| Nobuhiko Okamoto, Tatsuya Fujii, Junko Tanaka, Kazumasa Saito, Takeshi Matsui, Naoki Harada |
Nobuhiko Okamoto, Tatsuya Fujii, Junko Tanaka, Kazumasa Saito, Takeshi Matsui, Naoki Harada |
Nobuhiko Okamoto, Tatsuya Fujii, Junko Tanaka, Kazumasa Saito, Takeshi Matsui, Naoki Harada |
A Clinical Study of Patients With Pericentromeric Deletion and Duplication Within 16p12.2-p11.2 |
A Clinical Study of Patients With Pericentromeric Deletion and Duplication Within 16p12.2-p11.2 |
A Clinical Study of Patients With Pericentromeric Deletion and Duplication Within 16p12.2-p11.2 |
AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 164, 1, 213-219 |
AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 164, 1, 213-219 |
AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 164, 1, 213-219 |
2014/01 |
有 |
英語 |
研究論文(学術雑誌) |
公開 |
| Fujita A, Suzumura H, Nakashima M, Tsurusaki Y, Saitsu H, Harada N, Matsumoto N, Miyake N |
Fujita A, Suzumura H, Nakashima M, Tsurusaki Y, Saitsu H, Harada N, Matsumoto N, Miyake N |
Fujita A, Suzumura H, Nakashima M, Tsurusaki Y, Saitsu H, Harada N, Matsumoto N, Miyake N |
A unique case of de novo 5q33.3-q34 triplication with uniparental isodisomy of 5q34-qter. |
A unique case of de novo 5q33.3-q34 triplication with uniparental isodisomy of 5q34-qter. |
A unique case of de novo 5q33.3-q34 triplication with uniparental isodisomy of 5q34-qter. |
American journal of medical genetics. Part A, 161A, 1904-1909 |
American journal of medical genetics. Part A, 161A, 1904-1909 |
American journal of medical genetics. Part A, 161A, 1904-1909 |
2013/08 |
有 |
|
|
公開 |
| Toshiki Takenouchi, Hironobu Okuno, Rika Kosaki, Daisuke Ariyasu, Chiharu Torii, Suketaka Momoshima, Naoki Harada, Hiroshi Yoshihashi, Takao Takahashi, Midori Awazu, Kenjiro Kosaki |
Toshiki Takenouchi, Hironobu Okuno, Rika Kosaki, Daisuke Ariyasu, Chiharu Torii, Suketaka Momoshima, Naoki Harada, Hiroshi Yoshihashi, Takao Takahashi, Midori Awazu, Kenjiro Kosaki |
Toshiki Takenouchi, Hironobu Okuno, Rika Kosaki, Daisuke Ariyasu, Chiharu Torii, Suketaka Momoshima, Naoki Harada, Hiroshi Yoshihashi, Takao Takahashi, Midori Awazu, Kenjiro Kosaki |
Microduplication of Xq24 and Hartsfield Syndrome With Holoprosencephaly, Ectrodactyly, and Clefting |
Microduplication of Xq24 and Hartsfield Syndrome With Holoprosencephaly, Ectrodactyly, and Clefting |
Microduplication of Xq24 and Hartsfield Syndrome With Holoprosencephaly, Ectrodactyly, and Clefting |
AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 158A, 10, 2537-2541 |
AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 158A, 10, 2537-2541 |
AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 158A, 10, 2537-2541 |
2012/10 |
有 |
英語 |
研究論文(学術雑誌) |
公開 |
| Kana Hosoki, Tohru Ohta, Jun Natsume, Sumiko Imai, Akihisa Okumura, Takeshi Matsui, Naoki Harada, Carlos A. Bacino, Fernando Scaglia, Jeremy Y. Jones, Norio Niikawa, Shinji Saitoh |
Kana Hosoki, Tohru Ohta, Jun Natsume, Sumiko Imai, Akihisa Okumura, Takeshi Matsui, Naoki Harada, Carlos A. Bacino, Fernando Scaglia, Jeremy Y. Jones, Norio Niikawa, Shinji Saitoh |
Kana Hosoki, Tohru Ohta, Jun Natsume, Sumiko Imai, Akihisa Okumura, Takeshi Matsui, Naoki Harada, Carlos A. Bacino, Fernando Scaglia, Jeremy Y. Jones, Norio Niikawa, Shinji Saitoh |
Clinical phenotype and candidate genes for the 5q31.3 microdeletion syndrome |
Clinical phenotype and candidate genes for the 5q31.3 microdeletion syndrome |
Clinical phenotype and candidate genes for the 5q31.3 microdeletion syndrome |
AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 158A, 8, 1891-1896 |
AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 158A, 8, 1891-1896 |
AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 158A, 8, 1891-1896 |
2012/08 |
有 |
英語 |
研究論文(学術雑誌) |
公開 |
| Saitsu H, Osaka H, Sugiyama S, Kurosawa K, Mizuguchi T, Nishiyama K, Nishimura A, Tsurusaki Y, Doi H, Miyake N, Harada N, Kato M, Matsumoto N |
Saitsu H, Osaka H, Sugiyama S, Kurosawa K, Mizuguchi T, Nishiyama K, Nishimura A, Tsurusaki Y, Doi H, Miyake N, Harada N, Kato M, Matsumoto N |
Saitsu H, Osaka H, Sugiyama S, Kurosawa K, Mizuguchi T, Nishiyama K, Nishimura A, Tsurusaki Y, Doi H, Miyake N, Harada N, Kato M, Matsumoto N |
Early infantile epileptic encephalopathy associated with the disrupted gene encoding Slit-Robo Rho GTPase activating protein 2 (SRGAP2). |
Early infantile epileptic encephalopathy associated with the disrupted gene encoding Slit-Robo Rho GTPase activating protein 2 (SRGAP2). |
Early infantile epileptic encephalopathy associated with the disrupted gene encoding Slit-Robo Rho GTPase activating protein 2 (SRGAP2). |
American journal of medical genetics. Part A, 158A, 1, 199-205 |
American journal of medical genetics. Part A, 158A, 1, 199-205 |
American journal of medical genetics. Part A, 158A, 1, 199-205 |
2012/01 |
有 |
|
|
公開 |
| Satoru Sakazume, Hirofumi Ohashi, Yuki Sasaki, Naoki Harada, Katsumi Nakanishi, Hidenori Sato, Mitsuru Emi, Kazushi Endoh, Ryoichi Sohma, Yasuhiro Kido, Toshiro Nagai, Takeo Kubota |
Satoru Sakazume, Hirofumi Ohashi, Yuki Sasaki, Naoki Harada, Katsumi Nakanishi, Hidenori Sato, Mitsuru Emi, Kazushi Endoh, Ryoichi Sohma, Yasuhiro Kido, Toshiro Nagai, Takeo Kubota |
Satoru Sakazume, Hirofumi Ohashi, Yuki Sasaki, Naoki Harada, Katsumi Nakanishi, Hidenori Sato, Mitsuru Emi, Kazushi Endoh, Ryoichi Sohma, Yasuhiro Kido, Toshiro Nagai, Takeo Kubota |
Spread of X-chromosome inactivation into chromosome 15 is associated with Prader-Willi syndrome phenotype in a boy with a t(X;15)(p21.1;q11.2) translocation |
Spread of X-chromosome inactivation into chromosome 15 is associated with Prader-Willi syndrome phenotype in a boy with a t(X;15)(p21.1;q11.2) translocation |
Spread of X-chromosome inactivation into chromosome 15 is associated with Prader-Willi syndrome phenotype in a boy with a t(X;15)(p21.1;q11.2) translocation |
HUMAN GENETICS, 131, 1, 121-130 |
HUMAN GENETICS, 131, 1, 121-130 |
HUMAN GENETICS, 131, 1, 121-130 |
2012/01 |
有 |
英語 |
研究論文(学術雑誌) |
公開 |
| Hidefumi Tonoki, Naoki Harada, Osamu Shimokawa, Ayako Yosozumi, Kadomi Monzaki, Kohei Satoh, Rika Kosaki, Atsushi Sato, Naomichi Matsumoto, Susumu Iizuka |
Hidefumi Tonoki, Naoki Harada, Osamu Shimokawa, Ayako Yosozumi, Kadomi Monzaki, Kohei Satoh, Rika Kosaki, Atsushi Sato, Naomichi Matsumoto, Susumu Iizuka |
Hidefumi Tonoki, Naoki Harada, Osamu Shimokawa, Ayako Yosozumi, Kadomi Monzaki, Kohei Satoh, Rika Kosaki, Atsushi Sato, Naomichi Matsumoto, Susumu Iizuka |
Axenfeld-Rieger anomaly and Axenfeld-Rieger syndrome: Clinical, molecular-cytogenetic, and DNA array analyses of three patients with chromosomal defects at 6p25 |
Axenfeld-Rieger anomaly and Axenfeld-Rieger syndrome: Clinical, molecular-cytogenetic, and DNA array analyses of three patients with chromosomal defects at 6p25 |
Axenfeld-Rieger anomaly and Axenfeld-Rieger syndrome: Clinical, molecular-cytogenetic, and DNA array analyses of three patients with chromosomal defects at 6p25 |
AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 155A, 12, 2925-2932 |
AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 155A, 12, 2925-2932 |
AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 155A, 12, 2925-2932 |
2011/12 |
有 |
英語 |
研究論文(学術雑誌) |
公開 |
| Sasaki K, Okamoto N, Kosaki K, Yorifuji T, Shimokawa O, Mishima H, Yoshiura K-i, Harada N |
Sasaki K, Okamoto N, Kosaki K, Yorifuji T, Shimokawa O, Mishima H, Yoshiura K-i, Harada N |
Sasaki K, Okamoto N, Kosaki K, Yorifuji T, Shimokawa O, Mishima H, Yoshiura K-i, Harada N |
Maternal uniparental isodisomy and heterodisomy on chromosome 6 encompassing a CUL7 gene mutation causing 3M syndrome. |
Maternal uniparental isodisomy and heterodisomy on chromosome 6 encompassing a CUL7 gene mutation causing 3M syndrome. |
Maternal uniparental isodisomy and heterodisomy on chromosome 6 encompassing a CUL7 gene mutation causing 3M syndrome. |
Clini Genet, 80, 5, 478-483 |
Clini Genet, 80, 5, 478-483 |
Clini Genet, 80, 5, 478-483 |
2011/11 |
有 |
英語 |
研究論文(学術雑誌) |
公開 |
| Hirotomo Saitsu, Noboru Igarashi, Mitsuhiro Kato, Ippei Okada, Tomoki Kosho, Osamu Shimokawa, Yuki Sasaki, Kiyomi Nishiyama, Yoshinori Tsurusaki, Hiroshi Doi, Noriko Miyake, Naoki Harada, Kiyoshi Hayasaka, Naomichi Matasumoto |
Hirotomo Saitsu, Noboru Igarashi, Mitsuhiro Kato, Ippei Okada, Tomoki Kosho, Osamu Shimokawa, Yuki Sasaki, Kiyomi Nishiyama, Yoshinori Tsurusaki, Hiroshi Doi, Noriko Miyake, Naoki Harada, Kiyoshi Hayasaka, Naomichi Matasumoto |
Hirotomo Saitsu, Noboru Igarashi, Mitsuhiro Kato, Ippei Okada, Tomoki Kosho, Osamu Shimokawa, Yuki Sasaki, Kiyomi Nishiyama, Yoshinori Tsurusaki, Hiroshi Doi, Noriko Miyake, Naoki Harada, Kiyoshi Hayasaka, Naomichi Matasumoto |
De Novo 5q14.3 Translocation 121.5-kb Upstream of MEF2C in a Patient With Severe Intellectual Disability and Early-Onset Epileptic Encephalopathy |
De Novo 5q14.3 Translocation 121.5-kb Upstream of MEF2C in a Patient With Severe Intellectual Disability and Early-Onset Epileptic Encephalopathy |
De Novo 5q14.3 Translocation 121.5-kb Upstream of MEF2C in a Patient With Severe Intellectual Disability and Early-Onset Epileptic Encephalopathy |
AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 155A, 11, 2879-2884 |
AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 155A, 11, 2879-2884 |
AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 155A, 11, 2879-2884 |
2011/11 |
有 |
英語 |
研究論文(学術雑誌) |
公開 |
| Fumiko Kinoshita, Tatsuro Kondoh, Kazuhiro Komori, Takeshi Matsui, Naoki Harada, Akinori Yanai, Masafumi Fukuda, Kanako Morifuji, Tadashi Matsumoto |
Fumiko Kinoshita, Tatsuro Kondoh, Kazuhiro Komori, Takeshi Matsui, Naoki Harada, Akinori Yanai, Masafumi Fukuda, Kanako Morifuji, Tadashi Matsumoto |
Fumiko Kinoshita, Tatsuro Kondoh, Kazuhiro Komori, Takeshi Matsui, Naoki Harada, Akinori Yanai, Masafumi Fukuda, Kanako Morifuji, Tadashi Matsumoto |
Miller syndrome with novel dihydroorotate dehydrogenase gene mutations |
Miller syndrome with novel dihydroorotate dehydrogenase gene mutations |
Miller syndrome with novel dihydroorotate dehydrogenase gene mutations |
PEDIATRICS INTERNATIONAL, 53, 4, 587-591 |
PEDIATRICS INTERNATIONAL, 53, 4, 587-591 |
PEDIATRICS INTERNATIONAL, 53, 4, 587-591 |
2011/08 |
有 |
英語 |
研究論文(学術雑誌) |
公開 |
| Jun Tohyama, Mitsuhiro Kato, Sari Kawasaki, Naoki Harada, Hiroki Kawara, Takeshi Matsui, Noriyuki Akasaka, Tsukasa Ohashi, Yu Kobayashi, Naomichi Matsumoto |
Jun Tohyama, Mitsuhiro Kato, Sari Kawasaki, Naoki Harada, Hiroki Kawara, Takeshi Matsui, Noriyuki Akasaka, Tsukasa Ohashi, Yu Kobayashi, Naomichi Matsumoto |
Jun Tohyama, Mitsuhiro Kato, Sari Kawasaki, Naoki Harada, Hiroki Kawara, Takeshi Matsui, Noriyuki Akasaka, Tsukasa Ohashi, Yu Kobayashi, Naomichi Matsumoto |
Dandy-Walker Malformation Associated With Heterozygous ZIC1 and ZIC4 Deletion: Report of a New Patient |
Dandy-Walker Malformation Associated With Heterozygous ZIC1 and ZIC4 Deletion: Report of a New Patient |
Dandy-Walker Malformation Associated With Heterozygous ZIC1 and ZIC4 Deletion: Report of a New Patient |
AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 155A, 1, 130-133 |
AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 155A, 1, 130-133 |
AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 155A, 1, 130-133 |
2011/01 |
有 |
英語 |
研究論文(学術雑誌) |
公開 |
| Tsuguhiro Horikoshi, Akihiko Kikuchi, Shunsuke Tamaru, Kyoko Ono, Mariko Kita, Kimiyo Takagi, Susumu Miyashita, Hiroshi Kawame, Osamu Shimokawa, Naoki Harada |
Tsuguhiro Horikoshi, Akihiko Kikuchi, Shunsuke Tamaru, Kyoko Ono, Mariko Kita, Kimiyo Takagi, Susumu Miyashita, Hiroshi Kawame, Osamu Shimokawa, Naoki Harada |
Tsuguhiro Horikoshi, Akihiko Kikuchi, Shunsuke Tamaru, Kyoko Ono, Mariko Kita, Kimiyo Takagi, Susumu Miyashita, Hiroshi Kawame, Osamu Shimokawa, Naoki Harada |
Prenatal findings in a fetus with contiguous gene syndrome caused by deletion of Xp22.3 that includes locus for X-linked recessive type of chondrodysplasia punctata (CDPX1) |
Prenatal findings in a fetus with contiguous gene syndrome caused by deletion of Xp22.3 that includes locus for X-linked recessive type of chondrodysplasia punctata (CDPX1) |
Prenatal findings in a fetus with contiguous gene syndrome caused by deletion of Xp22.3 that includes locus for X-linked recessive type of chondrodysplasia punctata (CDPX1) |
JOURNAL OF OBSTETRICS AND GYNAECOLOGY RESEARCH, 36, 3, 671-675 |
JOURNAL OF OBSTETRICS AND GYNAECOLOGY RESEARCH, 36, 3, 671-675 |
JOURNAL OF OBSTETRICS AND GYNAECOLOGY RESEARCH, 36, 3, 671-675 |
2010/06 |
有 |
英語 |
研究論文(学術雑誌) |
公開 |
| Hirotomo Saitsu, Kenji Kurosawa, Hiroki Kawara, Maki Eguchi, Takeshi Mizuguchi, Naoki Harada, Tadashi Kaname, Hiroki Kano, Noriko Miyake, Tatsushi Toda, Naomichi Matsumoto |
Hirotomo Saitsu, Kenji Kurosawa, Hiroki Kawara, Maki Eguchi, Takeshi Mizuguchi, Naoki Harada, Tadashi Kaname, Hiroki Kano, Noriko Miyake, Tatsushi Toda, Naomichi Matsumoto |
Hirotomo Saitsu, Kenji Kurosawa, Hiroki Kawara, Maki Eguchi, Takeshi Mizuguchi, Naoki Harada, Tadashi Kaname, Hiroki Kano, Noriko Miyake, Tatsushi Toda, Naomichi Matsumoto |
Characterization of the Complex 7q21.3 Rearrangement in a Patient With Bilateral Split-Foot Malformation and Hearing Loss |
Characterization of the Complex 7q21.3 Rearrangement in a Patient With Bilateral Split-Foot Malformation and Hearing Loss |
Characterization of the Complex 7q21.3 Rearrangement in a Patient With Bilateral Split-Foot Malformation and Hearing Loss |
AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 149A, 6, 1224-1230 |
AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 149A, 6, 1224-1230 |
AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 149A, 6, 1224-1230 |
2009/06 |
有 |
英語 |
研究論文(学術雑誌) |
公開 |
| Hideo Kuniba, Ritsuko K. Pooh, Kensaku Sasaki, Osamu Shimokawa, Naoki Harada, Tatsuro Kondoh, Masanori Egashira, Hiroyuki Moriuchi, Koh-ichiro Yoshiura, Norio Niikawa |
Hideo Kuniba, Ritsuko K. Pooh, Kensaku Sasaki, Osamu Shimokawa, Naoki Harada, Tatsuro Kondoh, Masanori Egashira, Hiroyuki Moriuchi, Koh-ichiro Yoshiura, Norio Niikawa |
Hideo Kuniba, Ritsuko K. Pooh, Kensaku Sasaki, Osamu Shimokawa, Naoki Harada, Tatsuro Kondoh, Masanori Egashira, Hiroyuki Moriuchi, Koh-ichiro Yoshiura, Norio Niikawa |
Prenatal Diagnosis of Costello Syndrome Using 3D Ultrasonography Amniocentesis Confirmation of the Rare HRAS Mutation G12D |
Prenatal Diagnosis of Costello Syndrome Using 3D Ultrasonography Amniocentesis Confirmation of the Rare HRAS Mutation G12D |
Prenatal Diagnosis of Costello Syndrome Using 3D Ultrasonography Amniocentesis Confirmation of the Rare HRAS Mutation G12D |
AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 149A, 4, 785-787 |
AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 149A, 4, 785-787 |
AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 149A, 4, 785-787 |
2009/04 |
有 |
英語 |
|
公開 |
| Takeshi Mizuguchi, Ryota Hashimoto, Masanari Itokawa, Akira Sano, Osamu Shimokawa, Yukiko Yoshimura, Naoki Harada, Noriko Miyake, Akira Nishimura, Hirotomo Saitsu, Nadiya Sosonkina, Norio Niikawa, Hiroshi Kunugi, Naomichi Matsumoto |
Takeshi Mizuguchi, Ryota Hashimoto, Masanari Itokawa, Akira Sano, Osamu Shimokawa, Yukiko Yoshimura, Naoki Harada, Noriko Miyake, Akira Nishimura, Hirotomo Saitsu, Nadiya Sosonkina, Norio Niikawa, Hiroshi Kunugi, Naomichi Matsumoto |
Takeshi Mizuguchi, Ryota Hashimoto, Masanari Itokawa, Akira Sano, Osamu Shimokawa, Yukiko Yoshimura, Naoki Harada, Noriko Miyake, Akira Nishimura, Hirotomo Saitsu, Nadiya Sosonkina, Norio Niikawa, Hiroshi Kunugi, Naomichi Matsumoto |
Microarray comparative genomic hybridization analysis of 59 patients with schizophrenia |
Microarray comparative genomic hybridization analysis of 59 patients with schizophrenia |
Microarray comparative genomic hybridization analysis of 59 patients with schizophrenia |
Journal of Human Genetics, 53, 10, 914-919 |
Journal of Human Genetics, 53, 10, 914-919 |
Journal of Human Genetics, 53, 10, 914-919 |
2008/10 |
有 |
|
研究論文(学術雑誌) |
公開 |
| Masanori Egashira, Tatsuro Kondoh, Hiroki Kawara, Hideki Motomura, Masato Tagawa, Naoki Harada, Hiroyuki Moriuchi |
Masanori Egashira, Tatsuro Kondoh, Hiroki Kawara, Hideki Motomura, Masato Tagawa, Naoki Harada, Hiroyuki Moriuchi |
Masanori Egashira, Tatsuro Kondoh, Hiroki Kawara, Hideki Motomura, Masato Tagawa, Naoki Harada, Hiroyuki Moriuchi |
Mirror duplication of chromosome 21 with complete phenotype of Down syndrome |
Mirror duplication of chromosome 21 with complete phenotype of Down syndrome |
Mirror duplication of chromosome 21 with complete phenotype of Down syndrome |
PEDIATRICS INTERNATIONAL, 50, 4, 597-599 |
PEDIATRICS INTERNATIONAL, 50, 4, 597-599 |
PEDIATRICS INTERNATIONAL, 50, 4, 597-599 |
2008/08 |
有 |
英語 |
研究論文(学術雑誌) |
公開 |
| Yoko Hiraki, Miyuki Moriuchi, Nobuhiko Okamoto, Nobutsune Ishikawa, Yosuke Sugimoto, Kuniki Eguchi, Haruya Sakai, Hirotomo Saitsu, Takeshi Mizuguchi, Naoki Harada, Naomichi Matsumoto |
Yoko Hiraki, Miyuki Moriuchi, Nobuhiko Okamoto, Nobutsune Ishikawa, Yosuke Sugimoto, Kuniki Eguchi, Haruya Sakai, Hirotomo Saitsu, Takeshi Mizuguchi, Naoki Harada, Naomichi Matsumoto |
Yoko Hiraki, Miyuki Moriuchi, Nobuhiko Okamoto, Nobutsune Ishikawa, Yosuke Sugimoto, Kuniki Eguchi, Haruya Sakai, Hirotomo Saitsu, Takeshi Mizuguchi, Naoki Harada, Naomichi Matsumoto |
Craniosynostosis in a patient with a de novo 15q15-q22 deletion |
Craniosynostosis in a patient with a de novo 15q15-q22 deletion |
Craniosynostosis in a patient with a de novo 15q15-q22 deletion |
AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 146A, 11, 1462-1465 |
AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 146A, 11, 1462-1465 |
AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 146A, 11, 1462-1465 |
2008/06 |
有 |
英語 |
研究論文(学術雑誌) |
公開 |
| Toshiyuki Yamamoto, Yuri Dowa, Hideaki Ueda, Motoyoshi Kawataki, Toshihide Asou, Yuki Sasaki, Naoki Harada, Naomichi Matsumoto, Rumiko Matsuoka, Kenji Kurosawa |
Toshiyuki Yamamoto, Yuri Dowa, Hideaki Ueda, Motoyoshi Kawataki, Toshihide Asou, Yuki Sasaki, Naoki Harada, Naomichi Matsumoto, Rumiko Matsuoka, Kenji Kurosawa |
Toshiyuki Yamamoto, Yuri Dowa, Hideaki Ueda, Motoyoshi Kawataki, Toshihide Asou, Yuki Sasaki, Naoki Harada, Naomichi Matsumoto, Rumiko Matsuoka, Kenji Kurosawa |
Tetralogy of Fallot associated with pulmonary atresia and major aortopulmonary collateral arteries in a patient with interstitial deletion of 16q21-q22.1 |
Tetralogy of Fallot associated with pulmonary atresia and major aortopulmonary collateral arteries in a patient with interstitial deletion of 16q21-q22.1 |
Tetralogy of Fallot associated with pulmonary atresia and major aortopulmonary collateral arteries in a patient with interstitial deletion of 16q21-q22.1 |
AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 146A, 12, 1575-1580 |
AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 146A, 12, 1575-1580 |
AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 146A, 12, 1575-1580 |
2008/06 |
有 |
英語 |
研究論文(学術雑誌) |
公開 |
| Yoko Hiraki, Nobuhiko Okamoto, Tomoko Ida, Yusei Nakata, Masahiro Kamada, Yonehiro Kanemura, Mami Yamasaki, Hiroko Fujita, Gen Nishimura, Mitsuhiro Kato, Naoki Harada, Naomichi Matsumoto |
Yoko Hiraki, Nobuhiko Okamoto, Tomoko Ida, Yusei Nakata, Masahiro Kamada, Yonehiro Kanemura, Mami Yamasaki, Hiroko Fujita, Gen Nishimura, Mitsuhiro Kato, Naoki Harada, Naomichi Matsumoto |
Yoko Hiraki, Nobuhiko Okamoto, Tomoko Ida, Yusei Nakata, Masahiro Kamada, Yonehiro Kanemura, Mami Yamasaki, Hiroko Fujita, Gen Nishimura, Mitsuhiro Kato, Naoki Harada, Naomichi Matsumoto |
Two new cases of pure 1q terminal deletion presenting with brain malformations |
Two new cases of pure 1q terminal deletion presenting with brain malformations |
Two new cases of pure 1q terminal deletion presenting with brain malformations |
AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 146A, 10, 1241-1247 |
AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 146A, 10, 1241-1247 |
AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 146A, 10, 1241-1247 |
2008/05 |
有 |
英語 |
研究論文(学術雑誌) |
公開 |
| Marco T. Paez, Toshiyuki Yamamoto, Ken-ichi Hayashi, Toshiyuki Yasuda, Naoki Harada, Naomichi Matsumoto, Kenji Kurosawa, Yoshiyuki Furutani, Shuichi Asakawa, Nobuyoshi Shimizu, Rumiko Matsuoka |
Marco T. Paez, Toshiyuki Yamamoto, Ken-ichi Hayashi, Toshiyuki Yasuda, Naoki Harada, Naomichi Matsumoto, Kenji Kurosawa, Yoshiyuki Furutani, Shuichi Asakawa, Nobuyoshi Shimizu, Rumiko Matsuoka |
Marco T. Paez, Toshiyuki Yamamoto, Ken-ichi Hayashi, Toshiyuki Yasuda, Naoki Harada, Naomichi Matsumoto, Kenji Kurosawa, Yoshiyuki Furutani, Shuichi Asakawa, Nobuyoshi Shimizu, Rumiko Matsuoka |
Two patients with atypical interstitial deletions of 8p23.1: Mapping of phenotypical traits |
Two patients with atypical interstitial deletions of 8p23.1: Mapping of phenotypical traits |
Two patients with atypical interstitial deletions of 8p23.1: Mapping of phenotypical traits |
AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 146A, 9, 1158-1165 |
AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 146A, 9, 1158-1165 |
AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 146A, 9, 1158-1165 |
2008/05 |
有 |
英語 |
研究論文(学術雑誌) |
公開 |
| Lingqian Wu, Zhigao Long, Desheng Liang, Naoki Harada, Qian Pan, Koh-Ichiro Yoshiura, Kun Xia, Heping Dai, Norio Niikawa, Jiahui Xia |
Lingqian Wu, Zhigao Long, Desheng Liang, Naoki Harada, Qian Pan, Koh-Ichiro Yoshiura, Kun Xia, Heping Dai, Norio Niikawa, Jiahui Xia |
Lingqian Wu, Zhigao Long, Desheng Liang, Naoki Harada, Qian Pan, Koh-Ichiro Yoshiura, Kun Xia, Heping Dai, Norio Niikawa, Jiahui Xia |
Pre- and postnatal overgrowth in a patient with proximal 4p deletion |
Pre- and postnatal overgrowth in a patient with proximal 4p deletion |
Pre- and postnatal overgrowth in a patient with proximal 4p deletion |
AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 146A, 6, 791-794 |
AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 146A, 6, 791-794 |
AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 146A, 6, 791-794 |
2008/03 |
有 |
英語 |
|
公開 |
| Daisuke Sato, Hiroki Kawara, Osamu Shimokawa, Naoki Harada, Hidefumi Tonoki, Nobuhiro Takahashi, Yumi Imai, Hiromi Kimura, Naomichi Matsumoto, Tadashi Ariga, Norio Niikawa, Koh-ichiro Yoshiura |
Daisuke Sato, Hiroki Kawara, Osamu Shimokawa, Naoki Harada, Hidefumi Tonoki, Nobuhiro Takahashi, Yumi Imai, Hiromi Kimura, Naomichi Matsumoto, Tadashi Ariga, Norio Niikawa, Koh-ichiro Yoshiura |
Daisuke Sato, Hiroki Kawara, Osamu Shimokawa, Naoki Harada, Hidefumi Tonoki, Nobuhiro Takahashi, Yumi Imai, Hiromi Kimura, Naomichi Matsumoto, Tadashi Ariga, Norio Niikawa, Koh-ichiro Yoshiura |
A girl with Down syndrome and partial trisomy for 21pter-q22.13: A clue to narrow the Down syndrome critical region |
A girl with Down syndrome and partial trisomy for 21pter-q22.13: A clue to narrow the Down syndrome critical region |
A girl with Down syndrome and partial trisomy for 21pter-q22.13: A clue to narrow the Down syndrome critical region |
AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 146A, 1, 124-127 |
AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 146A, 1, 124-127 |
AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 146A, 1, 124-127 |
2008/01 |
有 |
英語 |
|
公開 |
| Daisuke Sato, Osamu Shimokawa, Naoki Harada, Oystein E. Olsen, Jia-Woei Hou, Wolfgang Muhlbauer, Ellen Blinkenberg, Nobuhiko Okamoto, Akira Kinoshita, Naomichi Matsumoto, Shinji Kondo, Tatsuya Kishino, Nobutomo Miwa, Tadashi Ariga, Norio Niikawa, Koh-ichiro Yoshiura |
Daisuke Sato, Osamu Shimokawa, Naoki Harada, Oystein E. Olsen, Jia-Woei Hou, Wolfgang Muhlbauer, Ellen Blinkenberg, Nobuhiko Okamoto, Akira Kinoshita, Naomichi Matsumoto, Shinji Kondo, Tatsuya Kishino, Nobutomo Miwa, Tadashi Ariga, Norio Niikawa, Koh-ichiro Yoshiura |
Daisuke Sato, Osamu Shimokawa, Naoki Harada, Oystein E. Olsen, Jia-Woei Hou, Wolfgang Muhlbauer, Ellen Blinkenberg, Nobuhiko Okamoto, Akira Kinoshita, Naomichi Matsumoto, Shinji Kondo, Tatsuya Kishino, Nobutomo Miwa, Tadashi Ariga, Norio Niikawa, Koh-ichiro Yoshiura |
Congenital arhinia: Molecular-genetic analysis of five patients |
Congenital arhinia: Molecular-genetic analysis of five patients |
Congenital arhinia: Molecular-genetic analysis of five patients |
AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 143A, 6, 546-552 |
AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 143A, 6, 546-552 |
AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 143A, 6, 546-552 |
2007/03 |
有 |
英語 |
研究論文(学術雑誌) |
公開 |
| Kikuchi T, Nomura M, Tomita H, Harada N, Kanai K, Konishi T, Yasuda A, Matsuura M, Kato N, Yoshiura K, Niikawa N |
Kikuchi T, Nomura M, Tomita H, Harada N, Kanai K, Konishi T, Yasuda A, Matsuura M, Kato N, Yoshiura K, Niikawa N |
Kikuchi T, Nomura M, Tomita H, Harada N, Kanai K, Konishi T, Yasuda A, Matsuura M, Kato N, Yoshiura K, Niikawa N |
Paroxysmal kinesigenic choreoathetosis (PKC): confirmation of linkage to 16p11-q21, but unsuccessful detection of mutations among 157 genes at the PKC-critical region in seven PKC families. |
Paroxysmal kinesigenic choreoathetosis (PKC): confirmation of linkage to 16p11-q21, but unsuccessful detection of mutations among 157 genes at the PKC-critical region in seven PKC families. |
Paroxysmal kinesigenic choreoathetosis (PKC): confirmation of linkage to 16p11-q21, but unsuccessful detection of mutations among 157 genes at the PKC-critical region in seven PKC families. |
Journal of human genetics, 52, 4, 334-341 |
Journal of human genetics, 52, 4, 334-341 |
Journal of human genetics, 52, 4, 334-341 |
2007 |
有 |
|
|
公開 |
| Kanako Sato, Mie Iwakoshi, Osamu Shimokawa, Haruya Sakai, Tohru Ohta, Shinji Saitoh, Noriko Miyake, Norio Niikawa, Naoki Harada, Hirotomo Saitsu, Takeshi Mizuguchi, Naomichi Matsumoto |
Kanako Sato, Mie Iwakoshi, Osamu Shimokawa, Haruya Sakai, Tohru Ohta, Shinji Saitoh, Noriko Miyake, Norio Niikawa, Naoki Harada, Hirotomo Saitsu, Takeshi Mizuguchi, Naomichi Matsumoto |
Kanako Sato, Mie Iwakoshi, Osamu Shimokawa, Haruya Sakai, Tohru Ohta, Shinji Saitoh, Noriko Miyake, Norio Niikawa, Naoki Harada, Hirotomo Saitsu, Takeshi Mizuguchi, Naomichi Matsumoto |
Angelman syndrome caused by an identical familial 1,487-kb deletion |
Angelman syndrome caused by an identical familial 1,487-kb deletion |
Angelman syndrome caused by an identical familial 1,487-kb deletion |
AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 143A, 1, 98-101 |
AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 143A, 1, 98-101 |
AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 143A, 1, 98-101 |
2007/01 |
有 |
英語 |
|
公開 |
| Kiyonori Miura, Koh-ichiro Yoshiura, Shoko Miura, Tatsuro Kondoh, Naoki Harada, Kentaro Yamasaki, Yoko Fujimoto, Yoko Yamasaki, Terunii Tanigawa, Yuriko Kitajima, Takako Shimada, Atsushi Yoshida, Daisuke Nakayama, Masato Tagawa, Shuichiro Yoshimura, Joseph Wagstaff, Yoshihiro Jinno, Tadayuki Ishimaru, Norio Niikawa, Hideaki Masuzaki |
Kiyonori Miura, Koh-ichiro Yoshiura, Shoko Miura, Tatsuro Kondoh, Naoki Harada, Kentaro Yamasaki, Yoko Fujimoto, Yoko Yamasaki, Terunii Tanigawa, Yuriko Kitajima, Takako Shimada, Atsushi Yoshida, Daisuke Nakayama, Masato Tagawa, Shuichiro Yoshimura, Joseph Wagstaff, Yoshihiro Jinno, Tadayuki Ishimaru, Norio Niikawa, Hideaki Masuzaki |
Kiyonori Miura, Koh-ichiro Yoshiura, Shoko Miura, Tatsuro Kondoh, Naoki Harada, Kentaro Yamasaki, Yoko Fujimoto, Yoko Yamasaki, Terunii Tanigawa, Yuriko Kitajima, Takako Shimada, Atsushi Yoshida, Daisuke Nakayama, Masato Tagawa, Shuichiro Yoshimura, Joseph Wagstaff, Yoshihiro Jinno, Tadayuki Ishimaru, Norio Niikawa, Hideaki Masuzaki |
Clinical outcome of infants with confined placental mosaicism and intrauterine growth restriction of unknown cause |
Clinical outcome of infants with confined placental mosaicism and intrauterine growth restriction of unknown cause |
Clinical outcome of infants with confined placental mosaicism and intrauterine growth restriction of unknown cause |
AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 140A, 17, 1827-1833 |
AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 140A, 17, 1827-1833 |
AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 140A, 17, 1827-1833 |
2006/09 |
有 |
英語 |
研究論文(学術雑誌) |
公開 |
| Osamu Shimokawa, Naoki Harada, Noriko Miyake, Kanako Satoh, Takeshi Mizuguchi, Norio Niikawa, Naomichi Matsumoto |
Osamu Shimokawa, Naoki Harada, Noriko Miyake, Kanako Satoh, Takeshi Mizuguchi, Norio Niikawa, Naomichi Matsumoto |
Osamu Shimokawa, Naoki Harada, Noriko Miyake, Kanako Satoh, Takeshi Mizuguchi, Norio Niikawa, Naomichi Matsumoto |
Array comparative genomic hybridization analysis in first-trimester spontaneous abortions with 'normal' karyotypes |
Array comparative genomic hybridization analysis in first-trimester spontaneous abortions with 'normal' karyotypes |
Array comparative genomic hybridization analysis in first-trimester spontaneous abortions with 'normal' karyotypes |
AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 140A, 18, 1931-1935 |
AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 140A, 18, 1931-1935 |
AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 140A, 18, 1931-1935 |
2006/09 |
有 |
英語 |
研究論文(学術雑誌) |
公開 |
| Shoko Miura, Kiyonori Miura, Toshiyuki Yamamoto, Michiko Yamanaka, Keisuki Saito, Tomoo Hirabuki, Kenji Kurosawa, Naoki Harada, Yoko Ishizaki-Yamasaki, Naomichi Matsumoto, Fumiki Hirahara, Koh-ichiro Yoshiura, Hideaki Masuzaki, Norio Niikawa |
Shoko Miura, Kiyonori Miura, Toshiyuki Yamamoto, Michiko Yamanaka, Keisuki Saito, Tomoo Hirabuki, Kenji Kurosawa, Naoki Harada, Yoko Ishizaki-Yamasaki, Naomichi Matsumoto, Fumiki Hirahara, Koh-ichiro Yoshiura, Hideaki Masuzaki, Norio Niikawa |
Shoko Miura, Kiyonori Miura, Toshiyuki Yamamoto, Michiko Yamanaka, Keisuki Saito, Tomoo Hirabuki, Kenji Kurosawa, Naoki Harada, Yoko Ishizaki-Yamasaki, Naomichi Matsumoto, Fumiki Hirahara, Koh-ichiro Yoshiura, Hideaki Masuzaki, Norio Niikawa |
Origin and mechanisms of formation of fetus-in-fetu: Two cases with genotype and methylation analyses |
Origin and mechanisms of formation of fetus-in-fetu: Two cases with genotype and methylation analyses |
Origin and mechanisms of formation of fetus-in-fetu: Two cases with genotype and methylation analyses |
AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 140A, 16, 1737-1743 |
AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 140A, 16, 1737-1743 |
AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 140A, 16, 1737-1743 |
2006/08 |
有 |
英語 |
研究論文(学術雑誌) |
公開 |
| Yoko Hiraki, Hiroko Fujita, Shunji Yamamori, Hirofumi Ohashi, Maki Eguchi, Naoki Harada, Takeshi Mizuguchi, Naomichi Matsumoto |
Yoko Hiraki, Hiroko Fujita, Shunji Yamamori, Hirofumi Ohashi, Maki Eguchi, Naoki Harada, Takeshi Mizuguchi, Naomichi Matsumoto |
Yoko Hiraki, Hiroko Fujita, Shunji Yamamori, Hirofumi Ohashi, Maki Eguchi, Naoki Harada, Takeshi Mizuguchi, Naomichi Matsumoto |
Mild craniosynostosis with 1p36.3 trisomy and 1p36.3 deletion syndrome caused by familial translocation t(Y;1) |
Mild craniosynostosis with 1p36.3 trisomy and 1p36.3 deletion syndrome caused by familial translocation t(Y;1) |
Mild craniosynostosis with 1p36.3 trisomy and 1p36.3 deletion syndrome caused by familial translocation t(Y;1) |
AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 140A, 16, 1773-1777 |
AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 140A, 16, 1773-1777 |
AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 140A, 16, 1773-1777 |
2006/08 |
有 |
英語 |
研究論文(学術雑誌) |
公開 |
| Haruya Sakai, Remco Visser, Shiro Ikegawa, Etsuro Ito, Hironao Numabe, Yoriko Watanabe, Haruo Mikami, Tatsuro Kondoh, Hiroshi Kitoh, Ryusuke Sugiyama, Nobuhiko Okamoto, Tsutomu Ogata, Riccardo Fodde, Seiji Mizuno, Kyoko Takamura, Masayuki Egashira, Nozomu Sasaki, Sachiro Watanabe, Shigeru Nishimaki, Fumlo Takada, Toshiro Nagai, Yasushi Okada, Yoshikazu Aoka, Kazushi Yasuda, Mitsuji Iwasa, Shigetoyo Kogaki, Naoki Harada, Takeshi Mizuguchi, Naomichi Matsumoto |
Haruya Sakai, Remco Visser, Shiro Ikegawa, Etsuro Ito, Hironao Numabe, Yoriko Watanabe, Haruo Mikami, Tatsuro Kondoh, Hiroshi Kitoh, Ryusuke Sugiyama, Nobuhiko Okamoto, Tsutomu Ogata, Riccardo Fodde, Seiji Mizuno, Kyoko Takamura, Masayuki Egashira, Nozomu Sasaki, Sachiro Watanabe, Shigeru Nishimaki, Fumlo Takada, Toshiro Nagai, Yasushi Okada, Yoshikazu Aoka, Kazushi Yasuda, Mitsuji Iwasa, Shigetoyo Kogaki, Naoki Harada, Takeshi Mizuguchi, Naomichi Matsumoto |
Haruya Sakai, Remco Visser, Shiro Ikegawa, Etsuro Ito, Hironao Numabe, Yoriko Watanabe, Haruo Mikami, Tatsuro Kondoh, Hiroshi Kitoh, Ryusuke Sugiyama, Nobuhiko Okamoto, Tsutomu Ogata, Riccardo Fodde, Seiji Mizuno, Kyoko Takamura, Masayuki Egashira, Nozomu Sasaki, Sachiro Watanabe, Shigeru Nishimaki, Fumlo Takada, Toshiro Nagai, Yasushi Okada, Yoshikazu Aoka, Kazushi Yasuda, Mitsuji Iwasa, Shigetoyo Kogaki, Naoki Harada, Takeshi Mizuguchi, Naomichi Matsumoto |
Comprehensive genetic analysis of relevant four genes in 49 patients with Marfan syndrome or marfan-related phenotypes |
Comprehensive genetic analysis of relevant four genes in 49 patients with Marfan syndrome or marfan-related phenotypes |
Comprehensive genetic analysis of relevant four genes in 49 patients with Marfan syndrome or marfan-related phenotypes |
AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 140A, 16, 1719-1725 |
AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 140A, 16, 1719-1725 |
AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 140A, 16, 1719-1725 |
2006/08 |
有 |
英語 |
研究論文(学術雑誌) |
公開 |
| Y Dowa, T Yamamoto, Y Abe, M Kobayashi, R Hoshino, K Tanaka, N Aida, H Take, K Kato, Y Tanaka, J Ariyama, N Harada, N Matsumoto, K Kurosawa |
Y Dowa, T Yamamoto, Y Abe, M Kobayashi, R Hoshino, K Tanaka, N Aida, H Take, K Kato, Y Tanaka, J Ariyama, N Harada, N Matsumoto, K Kurosawa |
Y Dowa, T Yamamoto, Y Abe, M Kobayashi, R Hoshino, K Tanaka, N Aida, H Take, K Kato, Y Tanaka, J Ariyama, N Harada, N Matsumoto, K Kurosawa |
Congenital neuroblastoma in a patient with partial trisomy of 2p |
Congenital neuroblastoma in a patient with partial trisomy of 2p |
Congenital neuroblastoma in a patient with partial trisomy of 2p |
JOURNAL OF PEDIATRIC HEMATOLOGY ONCOLOGY, 28, 6, 379-382 |
JOURNAL OF PEDIATRIC HEMATOLOGY ONCOLOGY, 28, 6, 379-382 |
JOURNAL OF PEDIATRIC HEMATOLOGY ONCOLOGY, 28, 6, 379-382 |
2006/06 |
有 |
英語 |
研究論文(学術雑誌) |
公開 |
| N Miyake, O Shimokawa, N Harada, N Sosonkina, A Okubo, H Kawara, N Okamoto, H Ohashi, K Kurosawa, K Naritomi, T Kaname, T Nagai, Shotelersuk, V, JW Hou, Y Fukushima, T Kondoh, T Matsumoto, T Shinoki, M Kato, H Tonoki, M Nomura, K Yoshiura, T Kishino, T Ohta, N Niikawa, N Matsumoto |
N Miyake, O Shimokawa, N Harada, N Sosonkina, A Okubo, H Kawara, N Okamoto, H Ohashi, K Kurosawa, K Naritomi, T Kaname, T Nagai, Shotelersuk, V, JW Hou, Y Fukushima, T Kondoh, T Matsumoto, T Shinoki, M Kato, H Tonoki, M Nomura, K Yoshiura, T Kishino, T Ohta, N Niikawa, N Matsumoto |
N Miyake, O Shimokawa, N Harada, N Sosonkina, A Okubo, H Kawara, N Okamoto, H Ohashi, K Kurosawa, K Naritomi, T Kaname, T Nagai, Shotelersuk, V, JW Hou, Y Fukushima, T Kondoh, T Matsumoto, T Shinoki, M Kato, H Tonoki, M Nomura, K Yoshiura, T Kishino, T Ohta, N Niikawa, N Matsumoto |
No detectable genomic aberrations by BAC array CGH in Kabuki make-up syndrome patients |
No detectable genomic aberrations by BAC array CGH in Kabuki make-up syndrome patients |
No detectable genomic aberrations by BAC array CGH in Kabuki make-up syndrome patients |
AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 140A, 3, 291-293 |
AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 140A, 3, 291-293 |
AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 140A, 3, 291-293 |
2006/02 |
有 |
英語 |
|
公開 |
| DS Liang, LQ Wu, Q Pan, N Harada, ZG Long, K Xia, K Yoshiura, HP Dai, N Niikawa, F Cai, JH Xia |
DS Liang, LQ Wu, Q Pan, N Harada, ZG Long, K Xia, K Yoshiura, HP Dai, N Niikawa, F Cai, JH Xia |
DS Liang, LQ Wu, Q Pan, N Harada, ZG Long, K Xia, K Yoshiura, HP Dai, N Niikawa, F Cai, JH Xia |
A father and son with mental retardation, a characteristic face, Inv(12), and insertion trisomy 12p12.3-p11.2 |
A father and son with mental retardation, a characteristic face, Inv(12), and insertion trisomy 12p12.3-p11.2 |
A father and son with mental retardation, a characteristic face, Inv(12), and insertion trisomy 12p12.3-p11.2 |
AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 140A, 3, 238-244 |
AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 140A, 3, 238-244 |
AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 140A, 3, 238-244 |
2006/02 |
有 |
英語 |
研究論文(学術雑誌) |
公開 |
| N Miyake, O Shimokawa, N Harada, N Sosonkina, A Okubo, H Kawara, N Okamoto, K Kurosawa, H Kawame, M Iwakoshi, T Kosho, Y Fukushima, Y Makita, Y Yokoyama, T Yamagata, M Kato, Y Hiraki, M Nomura, K Yoshiura, T Kishino, T Ohta, T Mizuguchi, N Niikawa, N Matsumoto |
N Miyake, O Shimokawa, N Harada, N Sosonkina, A Okubo, H Kawara, N Okamoto, K Kurosawa, H Kawame, M Iwakoshi, T Kosho, Y Fukushima, Y Makita, Y Yokoyama, T Yamagata, M Kato, Y Hiraki, M Nomura, K Yoshiura, T Kishino, T Ohta, T Mizuguchi, N Niikawa, N Matsumoto |
N Miyake, O Shimokawa, N Harada, N Sosonkina, A Okubo, H Kawara, N Okamoto, K Kurosawa, H Kawame, M Iwakoshi, T Kosho, Y Fukushima, Y Makita, Y Yokoyama, T Yamagata, M Kato, Y Hiraki, M Nomura, K Yoshiura, T Kishino, T Ohta, T Mizuguchi, N Niikawa, N Matsumoto |
BAC array CGH reveals genomic aberrations in idiopathic mental retardation |
BAC array CGH reveals genomic aberrations in idiopathic mental retardation |
BAC array CGH reveals genomic aberrations in idiopathic mental retardation |
AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 140A, 3, 205-211 |
AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 140A, 3, 205-211 |
AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 140A, 3, 205-211 |
2006/02 |
有 |
英語 |
研究論文(学術雑誌) |
公開 |
| H Kawara, T Yamamoto, N Harada, K Yoshiura, N Niikawa, A Nishimura, T Mizuguchi, N Matsumoto |
H Kawara, T Yamamoto, N Harada, K Yoshiura, N Niikawa, A Nishimura, T Mizuguchi, N Matsumoto |
H Kawara, T Yamamoto, N Harada, K Yoshiura, N Niikawa, A Nishimura, T Mizuguchi, N Matsumoto |
Narrowing candidate region for monosomy 9p syndrome to a 4.7-Mb segment at 9p22.2-p23 |
Narrowing candidate region for monosomy 9p syndrome to a 4.7-Mb segment at 9p22.2-p23 |
Narrowing candidate region for monosomy 9p syndrome to a 4.7-Mb segment at 9p22.2-p23 |
AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 140A, 4, 373-377 |
AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 140A, 4, 373-377 |
AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 140A, 4, 373-377 |
2006/02 |
有 |
英語 |
研究論文(学術雑誌) |
公開 |
| T Yamamoto, H Ueda, M Kawataki, M Yamanaka, T Asou, Y Kondoh, N Harada, N Matsumoto, K Kurosawa |
T Yamamoto, H Ueda, M Kawataki, M Yamanaka, T Asou, Y Kondoh, N Harada, N Matsumoto, K Kurosawa |
T Yamamoto, H Ueda, M Kawataki, M Yamanaka, T Asou, Y Kondoh, N Harada, N Matsumoto, K Kurosawa |
A large interstitial deletion of 17p13.1p11.2 involving the Smith-Magenis chromosome region in a girl with multiple congenital anomalies |
A large interstitial deletion of 17p13.1p11.2 involving the Smith-Magenis chromosome region in a girl with multiple congenital anomalies |
A large interstitial deletion of 17p13.1p11.2 involving the Smith-Magenis chromosome region in a girl with multiple congenital anomalies |
AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 140A, 1, 88-91 |
AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 140A, 1, 88-91 |
AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 140A, 1, 88-91 |
2006/01 |
有 |
英語 |
研究論文(学術雑誌) |
公開 |
| H Hamanoue, N Umezu, M Okuda, N Harada, T Ohata, H Sakai, T Mizuguchi, H Ishikawa, T Takahashi, K Miura, F Hirahara, N Matsumoto |
H Hamanoue, N Umezu, M Okuda, N Harada, T Ohata, H Sakai, T Mizuguchi, H Ishikawa, T Takahashi, K Miura, F Hirahara, N Matsumoto |
H Hamanoue, N Umezu, M Okuda, N Harada, T Ohata, H Sakai, T Mizuguchi, H Ishikawa, T Takahashi, K Miura, F Hirahara, N Matsumoto |
Complete hydatidiform mole and normal live birth following intracytoplasmic sperm injection |
Complete hydatidiform mole and normal live birth following intracytoplasmic sperm injection |
Complete hydatidiform mole and normal live birth following intracytoplasmic sperm injection |
JOURNAL OF HUMAN GENETICS, 51, 5, 477-479 |
JOURNAL OF HUMAN GENETICS, 51, 5, 477-479 |
JOURNAL OF HUMAN GENETICS, 51, 5, 477-479 |
2006 |
有 |
英語 |
研究論文(学術雑誌) |
公開 |
| S Miura, K Miura, H Masuzaki, N Miyake, K Yoshiura, N Sosonkina, N Harada, O Shimokawa, D Nakayama, S Yoshimura, N Matsumoto, N Niikawa, T Ishimaru |
S Miura, K Miura, H Masuzaki, N Miyake, K Yoshiura, N Sosonkina, N Harada, O Shimokawa, D Nakayama, S Yoshimura, N Matsumoto, N Niikawa, T Ishimaru |
S Miura, K Miura, H Masuzaki, N Miyake, K Yoshiura, N Sosonkina, N Harada, O Shimokawa, D Nakayama, S Yoshimura, N Matsumoto, N Niikawa, T Ishimaru |
Microarray comparative genomic hybridization (CGH)-based prenatal diagnosis for chromosome abnormalities using cell-free fetal DNA in amniotic fluid |
Microarray comparative genomic hybridization (CGH)-based prenatal diagnosis for chromosome abnormalities using cell-free fetal DNA in amniotic fluid |
Microarray comparative genomic hybridization (CGH)-based prenatal diagnosis for chromosome abnormalities using cell-free fetal DNA in amniotic fluid |
JOURNAL OF HUMAN GENETICS, 51, 5, 412-417 |
JOURNAL OF HUMAN GENETICS, 51, 5, 412-417 |
JOURNAL OF HUMAN GENETICS, 51, 5, 412-417 |
2006 |
有 |
英語 |
研究論文(学術雑誌) |
公開 |
| R Visser, O Shimokawa, N Harada, N Niikawa, N Matsumoto |
R Visser, O Shimokawa, N Harada, N Niikawa, N Matsumoto |
R Visser, O Shimokawa, N Harada, N Niikawa, N Matsumoto |
Non-hotspot-related breakpoints of common deletions in Sotos syndrome are located within destabilised DNA regions |
Non-hotspot-related breakpoints of common deletions in Sotos syndrome are located within destabilised DNA regions |
Non-hotspot-related breakpoints of common deletions in Sotos syndrome are located within destabilised DNA regions |
JOURNAL OF MEDICAL GENETICS, 42, 11 |
JOURNAL OF MEDICAL GENETICS, 42, 11 |
JOURNAL OF MEDICAL GENETICS, 42, 11 |
2005/11 |
有 |
英語 |
研究論文(学術雑誌) |
公開 |
| S Takahira, T Kondoh, M Sumi, M Tagawa, M Obatake, E Kinoshita, O Shimokawa, N Harada, N Miyake, N Matsumoto, H Moriuchi |
S Takahira, T Kondoh, M Sumi, M Tagawa, M Obatake, E Kinoshita, O Shimokawa, N Harada, N Miyake, N Matsumoto, H Moriuchi |
S Takahira, T Kondoh, M Sumi, M Tagawa, M Obatake, E Kinoshita, O Shimokawa, N Harada, N Miyake, N Matsumoto, H Moriuchi |
Klippel-Feil anomaly in a boy and Dubowitz syndrome with vertebral fusion in his brother: A new variant of Dubowitz syndrome? |
Klippel-Feil anomaly in a boy and Dubowitz syndrome with vertebral fusion in his brother: A new variant of Dubowitz syndrome? |
Klippel-Feil anomaly in a boy and Dubowitz syndrome with vertebral fusion in his brother: A new variant of Dubowitz syndrome? |
AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 138A, 3, 297-299 |
AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 138A, 3, 297-299 |
AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 138A, 3, 297-299 |
2005/10 |
有 |
英語 |
|
公開 |
| N Kurotaki, JJ Shen, M Touyama, T Kondoh, R Visser, T Ozaki, J Nishimoto, T Shiihara, K Uetake, Y Makita, N Harada, S Raskin, CW Brown, P Hoglund, N Okamoto, Lupski, JR |
N Kurotaki, JJ Shen, M Touyama, T Kondoh, R Visser, T Ozaki, J Nishimoto, T Shiihara, K Uetake, Y Makita, N Harada, S Raskin, CW Brown, P Hoglund, N Okamoto, Lupski, JR |
N Kurotaki, JJ Shen, M Touyama, T Kondoh, R Visser, T Ozaki, J Nishimoto, T Shiihara, K Uetake, Y Makita, N Harada, S Raskin, CW Brown, P Hoglund, N Okamoto, Lupski, JR |
Phenotypic consequences of genetic variation at hemizygous alleles: Sotos syndrome is a contiguous gene syndrome incorporating coagulation factor twelve (FXII) deficiency |
Phenotypic consequences of genetic variation at hemizygous alleles: Sotos syndrome is a contiguous gene syndrome incorporating coagulation factor twelve (FXII) deficiency |
Phenotypic consequences of genetic variation at hemizygous alleles: Sotos syndrome is a contiguous gene syndrome incorporating coagulation factor twelve (FXII) deficiency |
GENETICS IN MEDICINE, 7, 7, 479-483 |
GENETICS IN MEDICINE, 7, 7, 479-483 |
GENETICS IN MEDICINE, 7, 7, 479-483 |
2005/09 |
有 |
英語 |
研究論文(学術雑誌) |
公開 |
| N Okamoto, Y Hatsukawa, J Shiraishi, N Harada, N Matsumoto |
N Okamoto, Y Hatsukawa, J Shiraishi, N Harada, N Matsumoto |
N Okamoto, Y Hatsukawa, J Shiraishi, N Harada, N Matsumoto |
Chromosome 1q deletion and congenital glaucoma |
Chromosome 1q deletion and congenital glaucoma |
Chromosome 1q deletion and congenital glaucoma |
PEDIATRICS INTERNATIONAL, 47, 4, 477-479 |
PEDIATRICS INTERNATIONAL, 47, 4, 477-479 |
PEDIATRICS INTERNATIONAL, 47, 4, 477-479 |
2005/08 |
有 |
英語 |
研究論文(学術雑誌) |
公開 |
| O Shimokawa, N Miyake, T Yoshimura, N Sosonkina, N Harada, T Mizuguchi, S Kondoh, T Kishino, T Ohta, Remco, V, T Takashima, A Kinoshita, K Yoshiura, N Niikawa, N Matsumoto |
O Shimokawa, N Miyake, T Yoshimura, N Sosonkina, N Harada, T Mizuguchi, S Kondoh, T Kishino, T Ohta, Remco, V, T Takashima, A Kinoshita, K Yoshiura, N Niikawa, N Matsumoto |
O Shimokawa, N Miyake, T Yoshimura, N Sosonkina, N Harada, T Mizuguchi, S Kondoh, T Kishino, T Ohta, Remco, V, T Takashima, A Kinoshita, K Yoshiura, N Niikawa, N Matsumoto |
Molecular characterization of del(8)(p23.1p23.1) in a case of congenital diaphragmatic hernia |
Molecular characterization of del(8)(p23.1p23.1) in a case of congenital diaphragmatic hernia |
Molecular characterization of del(8)(p23.1p23.1) in a case of congenital diaphragmatic hernia |
AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 136A, 1, 49-51 |
AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 136A, 1, 49-51 |
AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 136A, 1, 49-51 |
2005/07 |
有 |
英語 |
研究論文(学術雑誌) |
公開 |
| N Miyake, R Visser, A Kinoshita, K Yoshiura, N Niikawa, T Kondoh, N Matsumoto, N Harada, N Okamoto, T Sonoda, K Naritomi, T Kaname, Y Chinen, H Tonoki, K Kurosawa |
N Miyake, R Visser, A Kinoshita, K Yoshiura, N Niikawa, T Kondoh, N Matsumoto, N Harada, N Okamoto, T Sonoda, K Naritomi, T Kaname, Y Chinen, H Tonoki, K Kurosawa |
N Miyake, R Visser, A Kinoshita, K Yoshiura, N Niikawa, T Kondoh, N Matsumoto, N Harada, N Okamoto, T Sonoda, K Naritomi, T Kaname, Y Chinen, H Tonoki, K Kurosawa |
Four novel NIPBL mutations in Japanese patients with Cornelia de Lange syndrome |
Four novel NIPBL mutations in Japanese patients with Cornelia de Lange syndrome |
Four novel NIPBL mutations in Japanese patients with Cornelia de Lange syndrome |
AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 135A, 1, 103-105 |
AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 135A, 1, 103-105 |
AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 135A, 1, 103-105 |
2005/05 |
有 |
英語 |
|
公開 |
| T Kondoh, O Shimokawa, N Harada, T Doi, C Yun, Y Gohda, K Fumiko, T Matsumoto, H Moriuchi |
T Kondoh, O Shimokawa, N Harada, T Doi, C Yun, Y Gohda, K Fumiko, T Matsumoto, H Moriuchi |
T Kondoh, O Shimokawa, N Harada, T Doi, C Yun, Y Gohda, K Fumiko, T Matsumoto, H Moriuchi |
Genotype-phenotype correlation of 5p-syndrome: pitfall of diagnosis |
Genotype-phenotype correlation of 5p-syndrome: pitfall of diagnosis |
Genotype-phenotype correlation of 5p-syndrome: pitfall of diagnosis |
JOURNAL OF HUMAN GENETICS, 50, 1, 26-29 |
JOURNAL OF HUMAN GENETICS, 50, 1, 26-29 |
JOURNAL OF HUMAN GENETICS, 50, 1, 26-29 |
2005 |
有 |
英語 |
研究論文(学術雑誌) |
公開 |
| R Visser, O Shimokawa, N Harada, A Kinoshita, T Ohta, N Niikawa, N Matsumoto |
R Visser, O Shimokawa, N Harada, A Kinoshita, T Ohta, N Niikawa, N Matsumoto |
R Visser, O Shimokawa, N Harada, A Kinoshita, T Ohta, N Niikawa, N Matsumoto |
Identification of a 3.0-kb major recombination hotspot in patients with Sotos syndrome who carry a common 1.9-mb microdeletion |
Identification of a 3.0-kb major recombination hotspot in patients with Sotos syndrome who carry a common 1.9-mb microdeletion |
Identification of a 3.0-kb major recombination hotspot in patients with Sotos syndrome who carry a common 1.9-mb microdeletion |
AMERICAN JOURNAL OF HUMAN GENETICS, 76, 1, 52-67 |
AMERICAN JOURNAL OF HUMAN GENETICS, 76, 1, 52-67 |
AMERICAN JOURNAL OF HUMAN GENETICS, 76, 1, 52-67 |
2005/01 |
有 |
英語 |
研究論文(学術雑誌) |
公開 |
| Kondoh T, Shimokawa O, Harada N, Doi T, Yun C, Gohda Y, Kinoshita F, Matsumoto T, Moriuchi H |
Kondoh T, Shimokawa O, Harada N, Doi T, Yun C, Gohda Y, Kinoshita F, Matsumoto T, Moriuchi H |
Kondoh T, Shimokawa O, Harada N, Doi T, Yun C, Gohda Y, Kinoshita F, Matsumoto T, Moriuchi H |
Genotype-phenotype correlation of 5p-syndrome: pitfall of diagnosis. |
Genotype-phenotype correlation of 5p-syndrome: pitfall of diagnosis. |
Genotype-phenotype correlation of 5p-syndrome: pitfall of diagnosis. |
Journal of human genetics, 50, 26-29 |
Journal of human genetics, 50, 26-29 |
Journal of human genetics, 50, 26-29 |
2005 |
有 |
|
|
公開 |
| K Kurosawa, N Harada, N Harada, N Sosonkina, N Niikawa, N Matsumoto, N Harada, N Sosonkina, N Niikawa, N Matsumoto, S Saitoh, N Matsumoto |
K Kurosawa, N Harada, N Harada, N Sosonkina, N Niikawa, N Matsumoto, N Harada, N Sosonkina, N Niikawa, N Matsumoto, S Saitoh, N Matsumoto |
K Kurosawa, N Harada, N Harada, N Sosonkina, N Niikawa, N Matsumoto, N Harada, N Sosonkina, N Niikawa, N Matsumoto, S Saitoh, N Matsumoto |
Unmasking 15q12 deletion using microarray-based comparative genomic hybridization in a mentally retarded boy with r(Y) |
Unmasking 15q12 deletion using microarray-based comparative genomic hybridization in a mentally retarded boy with r(Y) |
Unmasking 15q12 deletion using microarray-based comparative genomic hybridization in a mentally retarded boy with r(Y) |
AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 130A, 3, 322-324 |
AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 130A, 3, 322-324 |
AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 130A, 3, 322-324 |
2004/10 |
有 |
英語 |
|
公開 |
| T Mizuguchi, G Collod-Beroud, T Akiyama, M Abifadel, N Harada, T Morisaki, D Allard, M Varret, M Claustres, H Morisaki, M Ihara, A Kinoshita, K Yoshiura, C Junien, T Kajii, G Jondeau, T Ohta, T Kishino, Y Furukawa, Y Nakamura, N Niikawa, C Boileau, N Matsumoto |
T Mizuguchi, G Collod-Beroud, T Akiyama, M Abifadel, N Harada, T Morisaki, D Allard, M Varret, M Claustres, H Morisaki, M Ihara, A Kinoshita, K Yoshiura, C Junien, T Kajii, G Jondeau, T Ohta, T Kishino, Y Furukawa, Y Nakamura, N Niikawa, C Boileau, N Matsumoto |
T Mizuguchi, G Collod-Beroud, T Akiyama, M Abifadel, N Harada, T Morisaki, D Allard, M Varret, M Claustres, H Morisaki, M Ihara, A Kinoshita, K Yoshiura, C Junien, T Kajii, G Jondeau, T Ohta, T Kishino, Y Furukawa, Y Nakamura, N Niikawa, C Boileau, N Matsumoto |
Heterozygous TGFBR2 mutations in Marfan syndrome |
Heterozygous TGFBR2 mutations in Marfan syndrome |
Heterozygous TGFBR2 mutations in Marfan syndrome |
NATURE GENETICS, 36, 8, 855-860 |
NATURE GENETICS, 36, 8, 855-860 |
NATURE GENETICS, 36, 8, 855-860 |
2004/08 |
有 |
英語 |
研究論文(学術雑誌) |
公開 |
| O Shimokawa, K Kurosawa, T Ida, N Harada, T Kondoh, N Miyake, K Yoshiura, T Kishino, T Ohta, N Niikawa, N Matsumoto |
O Shimokawa, K Kurosawa, T Ida, N Harada, T Kondoh, N Miyake, K Yoshiura, T Kishino, T Ohta, N Niikawa, N Matsumoto |
O Shimokawa, K Kurosawa, T Ida, N Harada, T Kondoh, N Miyake, K Yoshiura, T Kishino, T Ohta, N Niikawa, N Matsumoto |
Molecular characterization of inv dup del(8p): Analysis of five cases |
Molecular characterization of inv dup del(8p): Analysis of five cases |
Molecular characterization of inv dup del(8p): Analysis of five cases |
AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 128A, 2, 133-137 |
AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 128A, 2, 133-137 |
AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 128A, 2, 133-137 |
2004/07 |
有 |
英語 |
研究論文(学術雑誌) |
公開 |
| J Kamimura, K Wakui, H Kadowaki, Y Watanabe, K Miyake, N Harada, M Sakamoto, A Kinoshita, K Yoshiura, T Ohta, T Kishino, M Ishikawa, M Kasuga, Y Fukushima, N Niikawa, N Matsumoto |
J Kamimura, K Wakui, H Kadowaki, Y Watanabe, K Miyake, N Harada, M Sakamoto, A Kinoshita, K Yoshiura, T Ohta, T Kishino, M Ishikawa, M Kasuga, Y Fukushima, N Niikawa, N Matsumoto |
J Kamimura, K Wakui, H Kadowaki, Y Watanabe, K Miyake, N Harada, M Sakamoto, A Kinoshita, K Yoshiura, T Ohta, T Kishino, M Ishikawa, M Kasuga, Y Fukushima, N Niikawa, N Matsumoto |
The IHPK1 gene is disrupted at the 3p21.31 breakpoint of t(3;9) in a family with type 2 diabetes mellitus |
The IHPK1 gene is disrupted at the 3p21.31 breakpoint of t(3;9) in a family with type 2 diabetes mellitus |
The IHPK1 gene is disrupted at the 3p21.31 breakpoint of t(3;9) in a family with type 2 diabetes mellitus |
JOURNAL OF HUMAN GENETICS, 49, 7, 360-365 |
JOURNAL OF HUMAN GENETICS, 49, 7, 360-365 |
JOURNAL OF HUMAN GENETICS, 49, 7, 360-365 |
2004/07 |
有 |
英語 |
研究論文(学術雑誌) |
公開 |
| N Miyake, N Harada, O Shimokawa, H Ohashi, K Kurosawa, T Matsumoto, Y Fukushima, T Nagai, Shotelersuk, V, K Yoshiura, T Ohta, T Kishino, N Niikawa, N Matsumoto |
N Miyake, N Harada, O Shimokawa, H Ohashi, K Kurosawa, T Matsumoto, Y Fukushima, T Nagai, Shotelersuk, V, K Yoshiura, T Ohta, T Kishino, N Niikawa, N Matsumoto |
N Miyake, N Harada, O Shimokawa, H Ohashi, K Kurosawa, T Matsumoto, Y Fukushima, T Nagai, Shotelersuk, V, K Yoshiura, T Ohta, T Kishino, N Niikawa, N Matsumoto |
On the reported 8p22-p23.1 duplication in Kabuki make-up syndrome (KMS) and its absence in patients with typical KMS |
On the reported 8p22-p23.1 duplication in Kabuki make-up syndrome (KMS) and its absence in patients with typical KMS |
On the reported 8p22-p23.1 duplication in Kabuki make-up syndrome (KMS) and its absence in patients with typical KMS |
AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 128A, 2, 170-172 |
AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 128A, 2, 170-172 |
AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 128A, 2, 170-172 |
2004/07 |
有 |
英語 |
研究論文(学術雑誌) |
公開 |
| Shimokawa O, Kurosawa K, Ida T, Harada N, Kondoh T, Miyake N, Yoshiura K, Kishino T, Ohta T, Niikawa N, Matsumoto N |
Shimokawa O, Kurosawa K, Ida T, Harada N, Kondoh T, Miyake N, Yoshiura K, Kishino T, Ohta T, Niikawa N, Matsumoto N |
Shimokawa O, Kurosawa K, Ida T, Harada N, Kondoh T, Miyake N, Yoshiura K, Kishino T, Ohta T, Niikawa N, Matsumoto N |
Molecular characterization of inv dup del(8p): analysis of five cases. |
Molecular characterization of inv dup del(8p): analysis of five cases. |
Molecular characterization of inv dup del(8p): analysis of five cases. |
American journal of medical genetics. Part A, 128A, 133-137 |
American journal of medical genetics. Part A, 128A, 133-137 |
American journal of medical genetics. Part A, 128A, 133-137 |
2004/07 |
有 |
|
|
公開 |
| Miyake N, Harada N, Shimokawa O, Ohashi H, Kurosawa K, Matsumoto T, Fukushima Y, Nagai T, Shotelersuk V, Yoshiura K, Ohta T, Kishino T, Niikawa N, Matsumoto N |
Miyake N, Harada N, Shimokawa O, Ohashi H, Kurosawa K, Matsumoto T, Fukushima Y, Nagai T, Shotelersuk V, Yoshiura K, Ohta T, Kishino T, Niikawa N, Matsumoto N |
Miyake N, Harada N, Shimokawa O, Ohashi H, Kurosawa K, Matsumoto T, Fukushima Y, Nagai T, Shotelersuk V, Yoshiura K, Ohta T, Kishino T, Niikawa N, Matsumoto N |
On the reported 8p22-p23.1 duplication in Kabuki make-up syndrome (KMS) and its absence in patients with typical KMS. |
On the reported 8p22-p23.1 duplication in Kabuki make-up syndrome (KMS) and its absence in patients with typical KMS. |
On the reported 8p22-p23.1 duplication in Kabuki make-up syndrome (KMS) and its absence in patients with typical KMS. |
American journal of medical genetics. Part A, 128A, 170-172 |
American journal of medical genetics. Part A, 128A, 170-172 |
American journal of medical genetics. Part A, 128A, 170-172 |
2004/07 |
有 |
|
|
公開 |
| N Miyake, H Tonoki, M Gallego, N Harada, O Shimokawa, K Yoshiura, T Ohta, T Kishino, N Niikawa, N Matsumoto |
N Miyake, H Tonoki, M Gallego, N Harada, O Shimokawa, K Yoshiura, T Ohta, T Kishino, N Niikawa, N Matsumoto |
N Miyake, H Tonoki, M Gallego, N Harada, O Shimokawa, K Yoshiura, T Ohta, T Kishino, N Niikawa, N Matsumoto |
Phenotype-genotype correlation in two patients with 12q proximal deletion |
Phenotype-genotype correlation in two patients with 12q proximal deletion |
Phenotype-genotype correlation in two patients with 12q proximal deletion |
JOURNAL OF HUMAN GENETICS, 49, 5, 282-284 |
JOURNAL OF HUMAN GENETICS, 49, 5, 282-284 |
JOURNAL OF HUMAN GENETICS, 49, 5, 282-284 |
2004/05 |
有 |
英語 |
研究論文(学術雑誌) |
公開 |
| M Iwakoshi, N Okamoto, N Harada, T Nakamura, S Yamamori, H Fujita, N Niikawa, N Matsumoto |
M Iwakoshi, N Okamoto, N Harada, T Nakamura, S Yamamori, H Fujita, N Niikawa, N Matsumoto |
M Iwakoshi, N Okamoto, N Harada, T Nakamura, S Yamamori, H Fujita, N Niikawa, N Matsumoto |
9q34.3 deletion syndrome in three unrelated children |
9q34.3 deletion syndrome in three unrelated children |
9q34.3 deletion syndrome in three unrelated children |
AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 126A, 3, 278-283 |
AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 126A, 3, 278-283 |
AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 126A, 3, 278-283 |
2004/04 |
有 |
英語 |
研究論文(学術雑誌) |
公開 |
| Iwakoshi M, Okamoto N, Harada N, Nakamura T, Yamamori S, Fujita H, Niikawa N, Matsumoto N |
Iwakoshi M, Okamoto N, Harada N, Nakamura T, Yamamori S, Fujita H, Niikawa N, Matsumoto N |
Iwakoshi M, Okamoto N, Harada N, Nakamura T, Yamamori S, Fujita H, Niikawa N, Matsumoto N |
9q34.3 deletion syndrome in three unrelated children. |
9q34.3 deletion syndrome in three unrelated children. |
9q34.3 deletion syndrome in three unrelated children. |
American journal of medical genetics. Part A, 126A, 278-283 |
American journal of medical genetics. Part A, 126A, 278-283 |
American journal of medical genetics. Part A, 126A, 278-283 |
2004/04 |
有 |
|
|
公開 |
| Harada N, Hatchwell E, Okamoto N, Tsukahara M, Kurosawa K, Kawame H, Kondoh T, Ohashi H, Tsukino R, Kondoh Y, Shimokawa O, Ida T, Nagai T, Fukushima Y, Yoshiura K, Niikawa N, Matsumoto N |
Harada N, Hatchwell E, Okamoto N, Tsukahara M, Kurosawa K, Kawame H, Kondoh T, Ohashi H, Tsukino R, Kondoh Y, Shimokawa O, Ida T, Nagai T, Fukushima Y, Yoshiura K, Niikawa N, Matsumoto N |
Harada N, Hatchwell E, Okamoto N, Tsukahara M, Kurosawa K, Kawame H, Kondoh T, Ohashi H, Tsukino R, Kondoh Y, Shimokawa O, Ida T, Nagai T, Fukushima Y, Yoshiura K, Niikawa N, Matsumoto N |
Subtelomere specific microarray based comparative genomic hybridisation: a rapid detection system for cryptic rearrangements in idiopathic mental retardation. |
Subtelomere specific microarray based comparative genomic hybridisation: a rapid detection system for cryptic rearrangements in idiopathic mental retardation. |
Subtelomere specific microarray based comparative genomic hybridisation: a rapid detection system for cryptic rearrangements in idiopathic mental retardation. |
J. Med Genet., 41, 2, 130-136 |
J. Med Genet., 41, 2, 130-136 |
J. Med Genet., 41, 2, 130-136 |
2004/02 |
有 |
英語 |
研究論文(学術雑誌) |
公開 |
| N Harada, R Visser, A Dawson, M Fukamachi, M Iwakoshi, N Okamoto, T Kishino, N Niikawa, N Matsumoto |
N Harada, R Visser, A Dawson, M Fukamachi, M Iwakoshi, N Okamoto, T Kishino, N Niikawa, N Matsumoto |
N Harada, R Visser, A Dawson, M Fukamachi, M Iwakoshi, N Okamoto, T Kishino, N Niikawa, N Matsumoto |
A 1-Mb critical region in six patients with 9q34.3 terminal deletion syndrome |
A 1-Mb critical region in six patients with 9q34.3 terminal deletion syndrome |
A 1-Mb critical region in six patients with 9q34.3 terminal deletion syndrome |
JOURNAL OF HUMAN GENETICS, 49, 8, 440-444 |
JOURNAL OF HUMAN GENETICS, 49, 8, 440-444 |
JOURNAL OF HUMAN GENETICS, 49, 8, 440-444 |
2004 |
有 |
英語 |
研究論文(学術雑誌) |
公開 |
| Kamimura J, Wakui K, Kadowaki H, Watanabe Y, Miyake K, Harada N, Sakamoto M, Kinoshita A, Yoshiura K, Ohta T, Kishino T, Ishikawa M, Kasuga M, Fukushima Y, Niikawa N, Matsumoto N |
Kamimura J, Wakui K, Kadowaki H, Watanabe Y, Miyake K, Harada N, Sakamoto M, Kinoshita A, Yoshiura K, Ohta T, Kishino T, Ishikawa M, Kasuga M, Fukushima Y, Niikawa N, Matsumoto N |
Kamimura J, Wakui K, Kadowaki H, Watanabe Y, Miyake K, Harada N, Sakamoto M, Kinoshita A, Yoshiura K, Ohta T, Kishino T, Ishikawa M, Kasuga M, Fukushima Y, Niikawa N, Matsumoto N |
The IHPK1 gene is disrupted at the 3p21.31 breakpoint of t(3;9) in a family with type 2 diabetes mellitus. |
The IHPK1 gene is disrupted at the 3p21.31 breakpoint of t(3;9) in a family with type 2 diabetes mellitus. |
The IHPK1 gene is disrupted at the 3p21.31 breakpoint of t(3;9) in a family with type 2 diabetes mellitus. |
Journal of human genetics, 49, 360-365 |
Journal of human genetics, 49, 360-365 |
Journal of human genetics, 49, 360-365 |
2004 |
有 |
|
|
公開 |
| Harada N, Visser R, Dawson A, Fukamachi M, Iwakoshi M, Okamoto N, Kishino T, Niikawa N, Matsumoto N |
Harada N, Visser R, Dawson A, Fukamachi M, Iwakoshi M, Okamoto N, Kishino T, Niikawa N, Matsumoto N |
Harada N, Visser R, Dawson A, Fukamachi M, Iwakoshi M, Okamoto N, Kishino T, Niikawa N, Matsumoto N |
A 1-Mb critical region in six patients with 9q34.3 terminal deletion syndrome. |
A 1-Mb critical region in six patients with 9q34.3 terminal deletion syndrome. |
A 1-Mb critical region in six patients with 9q34.3 terminal deletion syndrome. |
Journal of human genetics, 49, 440-444 |
Journal of human genetics, 49, 440-444 |
Journal of human genetics, 49, 440-444 |
2004 |
有 |
|
|
公開 |
| Miyake N, Tonoki H, Gallego M, Harada N, Shimokawa O, Yoshiura K, Ohta T, Kishino T, Niikawa N, Matsumoto N |
Miyake N, Tonoki H, Gallego M, Harada N, Shimokawa O, Yoshiura K, Ohta T, Kishino T, Niikawa N, Matsumoto N |
Miyake N, Tonoki H, Gallego M, Harada N, Shimokawa O, Yoshiura K, Ohta T, Kishino T, Niikawa N, Matsumoto N |
Phenotype-genotype correlation in two patients with 12q proximal deletion. |
Phenotype-genotype correlation in two patients with 12q proximal deletion. |
Phenotype-genotype correlation in two patients with 12q proximal deletion. |
Journal of human genetics, 49, 282-284 |
Journal of human genetics, 49, 282-284 |
Journal of human genetics, 49, 282-284 |
2004 |
有 |
|
|
公開 |
| Kamimura J, Endo Y, Kurotaki N, Kinoshita A, Miyake N, Shimokawa O, Harada N, Visser R, Ohashi H, Miyakawa K, Gerritsen J, Innes AM, Lagace L, Frydman M, Okamoto N, Puttinger R, Raskin S, Resic B, Culic V, Yoshiura K, Ohta T, Kishino T, Ishikawa M, Niikawa N, Matsumoto N |
Kamimura J, Endo Y, Kurotaki N, Kinoshita A, Miyake N, Shimokawa O, Harada N, Visser R, Ohashi H, Miyakawa K, Gerritsen J, Innes AM, Lagace L, Frydman M, Okamoto N, Puttinger R, Raskin S, Resic B, Culic V, Yoshiura K, Ohta T, Kishino T, Ishikawa M, Niikawa N, Matsumoto N |
Kamimura J, Endo Y, Kurotaki N, Kinoshita A, Miyake N, Shimokawa O, Harada N, Visser R, Ohashi H, Miyakawa K, Gerritsen J, Innes AM, Lagace L, Frydman M, Okamoto N, Puttinger R, Raskin S, Resic B, Culic V, Yoshiura K, Ohta T, Kishino T, Ishikawa M, Niikawa N, Matsumoto N |
Identification of eight novel NSD1 mutations in Sotos syndrome. |
Identification of eight novel NSD1 mutations in Sotos syndrome. |
Identification of eight novel NSD1 mutations in Sotos syndrome. |
J. Med. Genet., 40, 11, e126 |
J. Med. Genet., 40, 11, e126 |
J. Med. Genet., 40, 11, e126 |
2003/11 |
有 |
英語 |
研究論文(学術雑誌) |
公開 |
| N Kurotaki, N Harada, O Shimokawa, N Miyake, H Kawame, K Uetake, Y Makita, T Kondoh, T Ogata, T Hasegawa, T Nagai, T Ozaki, M Touyama, R Shenhav, H Ohashi, L Medne, T Shiihara, S Ohtsu, Z Kato, N Okamoto, J Nishimoto, D Lev, Y Miyoshi, S Ishikiriyama, T Sonoda, S Sakazume, Y Fukushima, K Kurosawa, JF Cheng, K Yoshiura, T Ohta, T Kishino, N Niikawa, N Matsumoto |
N Kurotaki, N Harada, O Shimokawa, N Miyake, H Kawame, K Uetake, Y Makita, T Kondoh, T Ogata, T Hasegawa, T Nagai, T Ozaki, M Touyama, R Shenhav, H Ohashi, L Medne, T Shiihara, S Ohtsu, Z Kato, N Okamoto, J Nishimoto, D Lev, Y Miyoshi, S Ishikiriyama, T Sonoda, S Sakazume, Y Fukushima, K Kurosawa, JF Cheng, K Yoshiura, T Ohta, T Kishino, N Niikawa, N Matsumoto |
N Kurotaki, N Harada, O Shimokawa, N Miyake, H Kawame, K Uetake, Y Makita, T Kondoh, T Ogata, T Hasegawa, T Nagai, T Ozaki, M Touyama, R Shenhav, H Ohashi, L Medne, T Shiihara, S Ohtsu, Z Kato, N Okamoto, J Nishimoto, D Lev, Y Miyoshi, S Ishikiriyama, T Sonoda, S Sakazume, Y Fukushima, K Kurosawa, JF Cheng, K Yoshiura, T Ohta, T Kishino, N Niikawa, N Matsumoto |
Fifty microdeletions among 112 cases of Sotos syndrome: low copy repeats possibly mediate the common deletion |
Fifty microdeletions among 112 cases of Sotos syndrome: low copy repeats possibly mediate the common deletion |
Fifty microdeletions among 112 cases of Sotos syndrome: low copy repeats possibly mediate the common deletion |
HUMAN MUTATION, 22, 5, 378-387 |
HUMAN MUTATION, 22, 5, 378-387 |
HUMAN MUTATION, 22, 5, 378-387 |
2003/11 |
有 |
英語 |
研究論文(学術雑誌) |
公開 |
| T Ida, N Miharu, M Hayashitani, O Shimokawa, N Harada, O Samura, T Kubota, N Niikawa, N Matsumoto |
T Ida, N Miharu, M Hayashitani, O Shimokawa, N Harada, O Samura, T Kubota, N Niikawa, N Matsumoto |
T Ida, N Miharu, M Hayashitani, O Shimokawa, N Harada, O Samura, T Kubota, N Niikawa, N Matsumoto |
Functional disomy for Xq22-q23 in a girl with complex rearrangements of chromosomes 3 and X |
Functional disomy for Xq22-q23 in a girl with complex rearrangements of chromosomes 3 and X |
Functional disomy for Xq22-q23 in a girl with complex rearrangements of chromosomes 3 and X |
AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 120A, 4, 557-561 |
AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 120A, 4, 557-561 |
AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 120A, 4, 557-561 |
2003/08 |
有 |
英語 |
研究論文(学術雑誌) |
公開 |
| H Sugawara, N Harada, T Ida, T Ishida, DH Ledbetter, KI Yoshiura, T Ohta, T Kishino, N Niikawa, N Matsumoto |
H Sugawara, N Harada, T Ida, T Ishida, DH Ledbetter, KI Yoshiura, T Ohta, T Kishino, N Niikawa, N Matsumoto |
H Sugawara, N Harada, T Ida, T Ishida, DH Ledbetter, KI Yoshiura, T Ohta, T Kishino, N Niikawa, N Matsumoto |
Complex low-copy repeats associated with a common polymorphic inversion at human chromosome 8p23 |
Complex low-copy repeats associated with a common polymorphic inversion at human chromosome 8p23 |
Complex low-copy repeats associated with a common polymorphic inversion at human chromosome 8p23 |
GENOMICS, 82, 2, 238-244 |
GENOMICS, 82, 2, 238-244 |
GENOMICS, 82, 2, 238-244 |
2003/08 |
有 |
英語 |
研究論文(学術雑誌) |
公開 |
| Ida T, Miharu N, Hayashitani M, Shimokawa O, Harada N, Samura O, Kubota T, Niikawa N, Matsumoto N |
Ida T, Miharu N, Hayashitani M, Shimokawa O, Harada N, Samura O, Kubota T, Niikawa N, Matsumoto N |
Ida T, Miharu N, Hayashitani M, Shimokawa O, Harada N, Samura O, Kubota T, Niikawa N, Matsumoto N |
Functional disomy for Xq22-q23 in a girl with complex rearrangements of chromosomes 3 and X. |
Functional disomy for Xq22-q23 in a girl with complex rearrangements of chromosomes 3 and X. |
Functional disomy for Xq22-q23 in a girl with complex rearrangements of chromosomes 3 and X. |
American journal of medical genetics. Part A, 120A, 557-561 |
American journal of medical genetics. Part A, 120A, 557-561 |
American journal of medical genetics. Part A, 120A, 557-561 |
2003/08 |
有 |
|
|
公開 |
| Y Kondoh, T Toma, H Ohashi, N Harada, K Yoshiura, T Ohta, T Kishino, N Niikawa, N Matsumoto |
Y Kondoh, T Toma, H Ohashi, N Harada, K Yoshiura, T Ohta, T Kishino, N Niikawa, N Matsumoto |
Y Kondoh, T Toma, H Ohashi, N Harada, K Yoshiura, T Ohta, T Kishino, N Niikawa, N Matsumoto |
Inv dup del(4) (: p14 -> p16.3 :: p16.3 -> qter) with manifestations of partial duplication 4p and Wolf-Hirschhorn syndrome |
Inv dup del(4) (: p14 -> p16.3 :: p16.3 -> qter) with manifestations of partial duplication 4p and Wolf-Hirschhorn syndrome |
Inv dup del(4) (: p14 -> p16.3 :: p16.3 -> qter) with manifestations of partial duplication 4p and Wolf-Hirschhorn syndrome |
AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 120A, 1, 123-126 |
AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 120A, 1, 123-126 |
AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 120A, 1, 123-126 |
2003/07 |
有 |
英語 |
研究論文(学術雑誌) |
公開 |
| Kondoh Y, Toma T, Ohashi H, Harada N, Yoshiura K, Ohta T, Kishino T, Niikawa N, Matsumoto N |
Kondoh Y, Toma T, Ohashi H, Harada N, Yoshiura K, Ohta T, Kishino T, Niikawa N, Matsumoto N |
Kondoh Y, Toma T, Ohashi H, Harada N, Yoshiura K, Ohta T, Kishino T, Niikawa N, Matsumoto N |
Inv dup del(4)(:p14 --> p16.3::p16.3 --> qter) with manifestations of partial duplication 4p and Wolf-Hirschhorn syndrome. |
Inv dup del(4)(:p14 --> p16.3::p16.3 --> qter) with manifestations of partial duplication 4p and Wolf-Hirschhorn syndrome. |
Inv dup del(4)(:p14 --> p16.3::p16.3 --> qter) with manifestations of partial duplication 4p and Wolf-Hirschhorn syndrome. |
American journal of medical genetics. Part A, 120A, 123-126 |
American journal of medical genetics. Part A, 120A, 123-126 |
American journal of medical genetics. Part A, 120A, 123-126 |
2003/07 |
有 |
|
|
公開 |
| N Miyake, N Kurotaki, H Sugawara, O Shimokawa, N Harada, T Kondoh, M Tsukahara, S Ishikiriyama, T Sonoda, Y Miyoshi, S Sakazume, Y Fukushima, H Ohashi, T Nagai, H Kawame, K Kurosawa, M Touyama, T Shiihara, N Okamoto, J Nishimoto, K Yoshiura, T Ohta, T Kishino, N Niikawa, N Matsumoto |
N Miyake, N Kurotaki, H Sugawara, O Shimokawa, N Harada, T Kondoh, M Tsukahara, S Ishikiriyama, T Sonoda, Y Miyoshi, S Sakazume, Y Fukushima, H Ohashi, T Nagai, H Kawame, K Kurosawa, M Touyama, T Shiihara, N Okamoto, J Nishimoto, K Yoshiura, T Ohta, T Kishino, N Niikawa, N Matsumoto |
N Miyake, N Kurotaki, H Sugawara, O Shimokawa, N Harada, T Kondoh, M Tsukahara, S Ishikiriyama, T Sonoda, Y Miyoshi, S Sakazume, Y Fukushima, H Ohashi, T Nagai, H Kawame, K Kurosawa, M Touyama, T Shiihara, N Okamoto, J Nishimoto, K Yoshiura, T Ohta, T Kishino, N Niikawa, N Matsumoto |
Preferential paternal origin of microdeletions caused by prezygotic chromosome or chromatid rearrangements in Sotos syndrome |
Preferential paternal origin of microdeletions caused by prezygotic chromosome or chromatid rearrangements in Sotos syndrome |
Preferential paternal origin of microdeletions caused by prezygotic chromosome or chromatid rearrangements in Sotos syndrome |
AMERICAN JOURNAL OF HUMAN GENETICS, 72, 5, 1331-1337 |
AMERICAN JOURNAL OF HUMAN GENETICS, 72, 5, 1331-1337 |
AMERICAN JOURNAL OF HUMAN GENETICS, 72, 5, 1331-1337 |
2003/05 |
有 |
英語 |
研究論文(学術雑誌) |
公開 |
| T Nagai, N Matsumoto, N Kurotaki, N Harada, N Niikawa, T Ogata, K Imaizumi, K Kurosawa, T Kondoh, H Ohashi, M Tsukahara, Y Makita, T Sugimoto, T Sonoda, T Yokoyama, K Uetake, S Sakazume, Y Fukushima, K Naritomi |
T Nagai, N Matsumoto, N Kurotaki, N Harada, N Niikawa, T Ogata, K Imaizumi, K Kurosawa, T Kondoh, H Ohashi, M Tsukahara, Y Makita, T Sugimoto, T Sonoda, T Yokoyama, K Uetake, S Sakazume, Y Fukushima, K Naritomi |
T Nagai, N Matsumoto, N Kurotaki, N Harada, N Niikawa, T Ogata, K Imaizumi, K Kurosawa, T Kondoh, H Ohashi, M Tsukahara, Y Makita, T Sugimoto, T Sonoda, T Yokoyama, K Uetake, S Sakazume, Y Fukushima, K Naritomi |
Sotos syndrome and haploinsufficiency of NSD1: clinical features of intragenic mutations and submicroscopic deletions |
Sotos syndrome and haploinsufficiency of NSD1: clinical features of intragenic mutations and submicroscopic deletions |
Sotos syndrome and haploinsufficiency of NSD1: clinical features of intragenic mutations and submicroscopic deletions |
JOURNAL OF MEDICAL GENETICS, 40, 4, 285-289 |
JOURNAL OF MEDICAL GENETICS, 40, 4, 285-289 |
JOURNAL OF MEDICAL GENETICS, 40, 4, 285-289 |
2003/04 |
有 |
英語 |
研究論文(学術雑誌) |
公開 |
| T Sonoda, K Kouno, K Sawada, J Takagi, H Nunoi, N Harada, N Matsumoto |
T Sonoda, K Kouno, K Sawada, J Takagi, H Nunoi, N Harada, N Matsumoto |
T Sonoda, K Kouno, K Sawada, J Takagi, H Nunoi, N Harada, N Matsumoto |
Duplication (22)(q11.22-q11.23) without coloboma and cleft lip or palate |
Duplication (22)(q11.22-q11.23) without coloboma and cleft lip or palate |
Duplication (22)(q11.22-q11.23) without coloboma and cleft lip or palate |
PEDIATRICS INTERNATIONAL, 45, 1, 97-100 |
PEDIATRICS INTERNATIONAL, 45, 1, 97-100 |
PEDIATRICS INTERNATIONAL, 45, 1, 97-100 |
2003/02 |
有 |
英語 |
研究論文(学術雑誌) |
公開 |
| T Nagai, O Shimokawa, N Harada, S Sakazume, H Ohashi, N Matsumoto, K Obata, A Yoshino, N Murakami, T Murai, R Sakuta, N Niikawa |
T Nagai, O Shimokawa, N Harada, S Sakazume, H Ohashi, N Matsumoto, K Obata, A Yoshino, N Murakami, T Murai, R Sakuta, N Niikawa |
T Nagai, O Shimokawa, N Harada, S Sakazume, H Ohashi, N Matsumoto, K Obata, A Yoshino, N Murakami, T Murai, R Sakuta, N Niikawa |
Postnatal overgrowth by 15q-trisomy and intrauterine growth retardation by 15q-monosomy due to familial translocation t(13;15): Dosage effect of IGF1R? |
Postnatal overgrowth by 15q-trisomy and intrauterine growth retardation by 15q-monosomy due to familial translocation t(13;15): Dosage effect of IGF1R? |
Postnatal overgrowth by 15q-trisomy and intrauterine growth retardation by 15q-monosomy due to familial translocation t(13;15): Dosage effect of IGF1R? |
AMERICAN JOURNAL OF MEDICAL GENETICS, 113, 2, 173-177 |
AMERICAN JOURNAL OF MEDICAL GENETICS, 113, 2, 173-177 |
AMERICAN JOURNAL OF MEDICAL GENETICS, 113, 2, 173-177 |
2002/11 |
有 |
英語 |
研究論文(学術雑誌) |
公開 |
| N Harada, J Takano, T Kondoh, H Ohashi, T Hasegawa, H Sugawara, T Ida, K Yoshiura, T Ohta, T Kishino, T Kajii, N Niikawa, N Matsumoto |
N Harada, J Takano, T Kondoh, H Ohashi, T Hasegawa, H Sugawara, T Ida, K Yoshiura, T Ohta, T Kishino, T Kajii, N Niikawa, N Matsumoto |
N Harada, J Takano, T Kondoh, H Ohashi, T Hasegawa, H Sugawara, T Ida, K Yoshiura, T Ohta, T Kishino, T Kajii, N Niikawa, N Matsumoto |
Duplication of 8p23.2: A benign cytogenetic variant? |
Duplication of 8p23.2: A benign cytogenetic variant? |
Duplication of 8p23.2: A benign cytogenetic variant? |
AMERICAN JOURNAL OF MEDICAL GENETICS, 111, 3, 285-288 |
AMERICAN JOURNAL OF MEDICAL GENETICS, 111, 3, 285-288 |
AMERICAN JOURNAL OF MEDICAL GENETICS, 111, 3, 285-288 |
2002/08 |
有 |
英語 |
研究論文(学術雑誌) |
公開 |
| K Nonomura, H Kakizaki, N Fukuzawa, K Fujieda, N Harada, N Niikawa, T Koyanagi |
K Nonomura, H Kakizaki, N Fukuzawa, K Fujieda, N Harada, N Niikawa, T Koyanagi |
K Nonomura, H Kakizaki, N Fukuzawa, K Fujieda, N Harada, N Niikawa, T Koyanagi |
Monozygotic twins with discordant sexual phenotypes due to different ratios of mosaicism of 47,X,idic(Y),idic(Y)/46,X,idic(Y)/45,X |
Monozygotic twins with discordant sexual phenotypes due to different ratios of mosaicism of 47,X,idic(Y),idic(Y)/46,X,idic(Y)/45,X |
Monozygotic twins with discordant sexual phenotypes due to different ratios of mosaicism of 47,X,idic(Y),idic(Y)/46,X,idic(Y)/45,X |
ENDOCRINE JOURNAL, 49, 4, 497-501 |
ENDOCRINE JOURNAL, 49, 4, 497-501 |
ENDOCRINE JOURNAL, 49, 4, 497-501 |
2002/08 |
有 |
英語 |
研究論文(学術雑誌) |
公開 |
| H. Sugawara, M. Egashira, N. Harada, T. C. Jakobs, K. Yoshiura, T. Kishino, T. Ohta, N. Niikawa, N. Matsumoto |
H. Sugawara, M. Egashira, N. Harada, T. C. Jakobs, K. Yoshiura, T. Kishino, T. Ohta, N. Niikawa, N. Matsumoto |
H. Sugawara, M. Egashira, N. Harada, T. C. Jakobs, K. Yoshiura, T. Kishino, T. Ohta, N. Niikawa, N. Matsumoto |
Breakpoint analysis of a familial balanced translocation t(2;8)(q31;p21) associated with mesomelic dysplasia. |
Breakpoint analysis of a familial balanced translocation t(2;8)(q31;p21) associated with mesomelic dysplasia. |
Breakpoint analysis of a familial balanced translocation t(2;8)(q31;p21) associated with mesomelic dysplasia. |
Journal of medical genetics, 39 |
Journal of medical genetics, 39 |
Journal of medical genetics, 39 |
2002/07/01 |
|
|
|
公開 |
| Sugawara H, Egashira M, Harada N, Jakobs TC, Yoshiura K, Kishino T, Ohta T, Niikawa N, Matsumoto N |
Sugawara H, Egashira M, Harada N, Jakobs TC, Yoshiura K, Kishino T, Ohta T, Niikawa N, Matsumoto N |
Sugawara H, Egashira M, Harada N, Jakobs TC, Yoshiura K, Kishino T, Ohta T, Niikawa N, Matsumoto N |
Breakpoint analysis of a familial balanced translocation t(2;8)(q31;p21) associated with mesomelic dysplasia. |
Breakpoint analysis of a familial balanced translocation t(2;8)(q31;p21) associated with mesomelic dysplasia. |
Breakpoint analysis of a familial balanced translocation t(2;8)(q31;p21) associated with mesomelic dysplasia. |
J. Med. Genet., 39, 7, e34 |
J. Med. Genet., 39, 7, e34 |
J. Med. Genet., 39, 7, e34 |
2002/07 |
有 |
英語 |
研究論文(学術雑誌) |
公開 |
| T Kayashima, M Katahira, N Harada, N Miwa, T Ohta, K Yoshiura, N Matsumoto, Y Nakane, Y Nakamura, T Kajii, N Niikawa, T Kishino |
T Kayashima, M Katahira, N Harada, N Miwa, T Ohta, K Yoshiura, N Matsumoto, Y Nakane, Y Nakamura, T Kajii, N Niikawa, T Kishino |
T Kayashima, M Katahira, N Harada, N Miwa, T Ohta, K Yoshiura, N Matsumoto, Y Nakane, Y Nakamura, T Kajii, N Niikawa, T Kishino |
Maternal Isodisomy for 14q21-q24 in a man with diabetes mellitus |
Maternal Isodisomy for 14q21-q24 in a man with diabetes mellitus |
Maternal Isodisomy for 14q21-q24 in a man with diabetes mellitus |
AMERICAN JOURNAL OF MEDICAL GENETICS, 111, 1, 38-42 |
AMERICAN JOURNAL OF MEDICAL GENETICS, 111, 1, 38-42 |
AMERICAN JOURNAL OF MEDICAL GENETICS, 111, 1, 38-42 |
2002/07 |
有 |
英語 |
研究論文(学術雑誌) |
公開 |
| N Kurotaki, K Imaizumi, N Harada, M Masuno, T Kondoh, T Nagai, H Ohashi, K Naritomi, M Tsukahara, Y Makita, T Sugimoto, T Sonoda, T Hasegawa, Y Chinen, H Tomita, A Kinoshita, T Mizuguchi, K Yoshiura, T Ohta, T Kishino, Y Fukushima, N Niikawa, N Matsumoto |
N Kurotaki, K Imaizumi, N Harada, M Masuno, T Kondoh, T Nagai, H Ohashi, K Naritomi, M Tsukahara, Y Makita, T Sugimoto, T Sonoda, T Hasegawa, Y Chinen, H Tomita, A Kinoshita, T Mizuguchi, K Yoshiura, T Ohta, T Kishino, Y Fukushima, N Niikawa, N Matsumoto |
N Kurotaki, K Imaizumi, N Harada, M Masuno, T Kondoh, T Nagai, H Ohashi, K Naritomi, M Tsukahara, Y Makita, T Sugimoto, T Sonoda, T Hasegawa, Y Chinen, H Tomita, A Kinoshita, T Mizuguchi, K Yoshiura, T Ohta, T Kishino, Y Fukushima, N Niikawa, N Matsumoto |
Haploinsufficiency of NSD1 causes Sotos syndrome |
Haploinsufficiency of NSD1 causes Sotos syndrome |
Haploinsufficiency of NSD1 causes Sotos syndrome |
NATURE GENETICS, 30, 4, 365-366 |
NATURE GENETICS, 30, 4, 365-366 |
NATURE GENETICS, 30, 4, 365-366 |
2002/04 |
有 |
英語 |
研究論文(学術雑誌) |
公開 |
| T Ida, N Harada, K Abe, T Kondoh, M Yoshinaga, T Maki, N Niikawa |
T Ida, N Harada, K Abe, T Kondoh, M Yoshinaga, T Maki, N Niikawa |
T Ida, N Harada, K Abe, T Kondoh, M Yoshinaga, T Maki, N Niikawa |
Identification of de novo chromosome rearrangements: Five cases analyzed with differential chromosome painting |
Identification of de novo chromosome rearrangements: Five cases analyzed with differential chromosome painting |
Identification of de novo chromosome rearrangements: Five cases analyzed with differential chromosome painting |
AMERICAN JOURNAL OF MEDICAL GENETICS, 108, 3, 182-186 |
AMERICAN JOURNAL OF MEDICAL GENETICS, 108, 3, 182-186 |
AMERICAN JOURNAL OF MEDICAL GENETICS, 108, 3, 182-186 |
2002/03 |
有 |
英語 |
研究論文(学術雑誌) |
公開 |
| S Kondoh, H Sugawara, N Harada, N Matsumoto, H Ohashi, M Sato, PN Kantaputra, T Ogino, H Tomita, T Ohta, T Kishino, Y Fukushima, N Niikawa, K Yoshiura |
S Kondoh, H Sugawara, N Harada, N Matsumoto, H Ohashi, M Sato, PN Kantaputra, T Ogino, H Tomita, T Ohta, T Kishino, Y Fukushima, N Niikawa, K Yoshiura |
S Kondoh, H Sugawara, N Harada, N Matsumoto, H Ohashi, M Sato, PN Kantaputra, T Ogino, H Tomita, T Ohta, T Kishino, Y Fukushima, N Niikawa, K Yoshiura |
A novel gene is disrupted at a 14q13 breakpoint of t(2;14) in a patient with mirror-image polydactyly of hands and feet |
A novel gene is disrupted at a 14q13 breakpoint of t(2;14) in a patient with mirror-image polydactyly of hands and feet |
A novel gene is disrupted at a 14q13 breakpoint of t(2;14) in a patient with mirror-image polydactyly of hands and feet |
JOURNAL OF HUMAN GENETICS, 47, 3, 136-139 |
JOURNAL OF HUMAN GENETICS, 47, 3, 136-139 |
JOURNAL OF HUMAN GENETICS, 47, 3, 136-139 |
2002 |
有 |
英語 |
研究論文(学術雑誌) |
公開 |
| Kurotaki N, Harada N, Yoshiura K, Sugano S, Niikawa N, Matsumoto N |
Kurotaki N, Harada N, Yoshiura K, Sugano S, Niikawa N, Matsumoto N |
Kurotaki N, Harada N, Yoshiura K, Sugano S, Niikawa N, Matsumoto N |
Molecular characterization of NSD1, a human homologue of the mouse Nsd1 gene. |
Molecular characterization of NSD1, a human homologue of the mouse Nsd1 gene. |
Molecular characterization of NSD1, a human homologue of the mouse Nsd1 gene. |
Gene, 279, 2, 197-204 |
Gene, 279, 2, 197-204 |
Gene, 279, 2, 197-204 |
2001/11 |
有 |
英語 |
研究論文(学術雑誌) |
公開 |
| M Higashino, N Harada, Hataya, I, N Nishimura, M Kato, N Niikawa |
M Higashino, N Harada, Hataya, I, N Nishimura, M Kato, N Niikawa |
M Higashino, N Harada, Hataya, I, N Nishimura, M Kato, N Niikawa |
Trizygotic pregnancy consisting of two fetuses and a complete hydatidiform mole with dispermic androgenesis |
Trizygotic pregnancy consisting of two fetuses and a complete hydatidiform mole with dispermic androgenesis |
Trizygotic pregnancy consisting of two fetuses and a complete hydatidiform mole with dispermic androgenesis |
AMERICAN JOURNAL OF MEDICAL GENETICS, 82, 1, 67-69 |
AMERICAN JOURNAL OF MEDICAL GENETICS, 82, 1, 67-69 |
AMERICAN JOURNAL OF MEDICAL GENETICS, 82, 1, 67-69 |
1999/01 |
有 |
英語 |
研究論文(学術雑誌) |
公開 |
| N Harada, K Abe, T Nishimura, K Sasaki, M Ishikawa, M Fujimoto, T Matsumoto, N Niikawa |
N Harada, K Abe, T Nishimura, K Sasaki, M Ishikawa, M Fujimoto, T Matsumoto, N Niikawa |
N Harada, K Abe, T Nishimura, K Sasaki, M Ishikawa, M Fujimoto, T Matsumoto, N Niikawa |
Origin and mechanism of formation of 45,X/47,XX,+21 mosaicism in a fetus |
Origin and mechanism of formation of 45,X/47,XX,+21 mosaicism in a fetus |
Origin and mechanism of formation of 45,X/47,XX,+21 mosaicism in a fetus |
AMERICAN JOURNAL OF MEDICAL GENETICS, 75, 4, 432-437 |
AMERICAN JOURNAL OF MEDICAL GENETICS, 75, 4, 432-437 |
AMERICAN JOURNAL OF MEDICAL GENETICS, 75, 4, 432-437 |
1998/02 |
有 |
英語 |
研究論文(学術雑誌) |
公開 |
| K Abe, N Harada, T Itoh, O Hirakawa, N Niikawa |
K Abe, N Harada, T Itoh, O Hirakawa, N Niikawa |
K Abe, N Harada, T Itoh, O Hirakawa, N Niikawa |
Trisomy 13 trisomy 18 mosaicism in an infant |
Trisomy 13 trisomy 18 mosaicism in an infant |
Trisomy 13 trisomy 18 mosaicism in an infant |
CLINICAL GENETICS, 50, 5, 300-303 |
CLINICAL GENETICS, 50, 5, 300-303 |
CLINICAL GENETICS, 50, 5, 300-303 |
1996/11 |
有 |
英語 |
研究論文(学術雑誌) |
公開 |
| T SAWAI, M YOSHIMOTO, E KINOSHITA, T BABA, T MATSUMOTO, Y TSUJI, S FUKUDA, N HARADA, N NIIKAWA |
T SAWAI, M YOSHIMOTO, E KINOSHITA, T BABA, T MATSUMOTO, Y TSUJI, S FUKUDA, N HARADA, N NIIKAWA |
T SAWAI, M YOSHIMOTO, E KINOSHITA, T BABA, T MATSUMOTO, Y TSUJI, S FUKUDA, N HARADA, N NIIKAWA |
CASE OF 46,XX/47,XY,+21 CHIMERISM IN A NEWBORN-INFANT WITH AMBIGUOUS GENITALIA |
CASE OF 46,XX/47,XY,+21 CHIMERISM IN A NEWBORN-INFANT WITH AMBIGUOUS GENITALIA |
CASE OF 46,XX/47,XY,+21 CHIMERISM IN A NEWBORN-INFANT WITH AMBIGUOUS GENITALIA |
AMERICAN JOURNAL OF MEDICAL GENETICS, 49, 4, 428-430 |
AMERICAN JOURNAL OF MEDICAL GENETICS, 49, 4, 428-430 |
AMERICAN JOURNAL OF MEDICAL GENETICS, 49, 4, 428-430 |
1994/02 |
有 |
英語 |
研究論文(学術雑誌) |
公開 |
| Saitoh S, Harada N, Jinno Y, Hashimoto K, Imaizumi K, Kuroki Y, Fukushima Y, Sugimoto T, Renedo M, Wagstaff J, Lalande M, Mutirangura A, Kuwano A, Ledbetter D.H, Niikawa N |
Saitoh S, Harada N, Jinno Y, Hashimoto K, Imaizumi K, Kuroki Y, Fukushima Y, Sugimoto T, Renedo M, Wagstaff J, Lalande M, Mutirangura A, Kuwano A, Ledbetter D.H, Niikawa N |
Saitoh S, Harada N, Jinno Y, Hashimoto K, Imaizumi K, Kuroki Y, Fukushima Y, Sugimoto T, Renedo M, Wagstaff J, Lalande M, Mutirangura A, Kuwano A, Ledbetter D.H, Niikawa N |
Molecular and clinical study of 61 Angelman syndrome patients |
Molecular and clinical study of 61 Angelman syndrome patients |
Molecular and clinical study of 61 Angelman syndrome patients |
American Journal of Medical Genetics, 52, 2, 158-163 |
American Journal of Medical Genetics, 52, 2, 158-163 |
American Journal of Medical Genetics, 52, 2, 158-163 |
1994 |
有 |
|
|
公開 |
| Tamura T, Tohma T, Ohta T, Soejima H, Harada N, Abe K, Niikawa N |
Tamura T, Tohma T, Ohta T, Soejima H, Harada N, Abe K, Niikawa N |
Tamura T, Tohma T, Ohta T, Soejima H, Harada N, Abe K, Niikawa N |
Ring chromosome 15 involving deletion of the insulin-like growth factor 1 receptor gene in a patient with features of Silver-Russell syndrome. |
Ring chromosome 15 involving deletion of the insulin-like growth factor 1 receptor gene in a patient with features of Silver-Russell syndrome. |
Ring chromosome 15 involving deletion of the insulin-like growth factor 1 receptor gene in a patient with features of Silver-Russell syndrome. |
Clin Dysmorphol, 2, 2, 106-113 |
Clin Dysmorphol, 2, 2, 106-113 |
Clin Dysmorphol, 2, 2, 106-113 |
1993 |
有 |
|
|
公開 |
| Y JINNO, N HARADA, K YOSHIURA, T OHTA, T TOHMA, T HIROTA, K TSUKAMOTO, HX DENG, M OSHIMURA, N NIIKAWA |
Y JINNO, N HARADA, K YOSHIURA, T OHTA, T TOHMA, T HIROTA, K TSUKAMOTO, HX DENG, M OSHIMURA, N NIIKAWA |
Y JINNO, N HARADA, K YOSHIURA, T OHTA, T TOHMA, T HIROTA, K TSUKAMOTO, HX DENG, M OSHIMURA, N NIIKAWA |
A SIMPLE AND EFFICIENT AMPLIFICATION METHOD OF DNA WITH UNKNOWN SEQUENCES AND ITS APPLICATION TO MICRODISSECTION/MICROCLONING |
A SIMPLE AND EFFICIENT AMPLIFICATION METHOD OF DNA WITH UNKNOWN SEQUENCES AND ITS APPLICATION TO MICRODISSECTION/MICROCLONING |
A SIMPLE AND EFFICIENT AMPLIFICATION METHOD OF DNA WITH UNKNOWN SEQUENCES AND ITS APPLICATION TO MICRODISSECTION/MICROCLONING |
JOURNAL OF BIOCHEMISTRY, 112, 1, 75-80 |
JOURNAL OF BIOCHEMISTRY, 112, 1, 75-80 |
JOURNAL OF BIOCHEMISTRY, 112, 1, 75-80 |
1992/07 |
有 |
英語 |
研究論文(学術雑誌) |
公開 |
| T HIROTA, K TSUKAMOTO, HX DENG, K YOSHIURA, T OHTA, T TOHMA, T KIBE, N HARADA, Y JINNO, N NIIKAWA |
T HIROTA, K TSUKAMOTO, HX DENG, K YOSHIURA, T OHTA, T TOHMA, T KIBE, N HARADA, Y JINNO, N NIIKAWA |
T HIROTA, K TSUKAMOTO, HX DENG, K YOSHIURA, T OHTA, T TOHMA, T KIBE, N HARADA, Y JINNO, N NIIKAWA |
MICRODISSECTION OF HUMAN CHROMOSOMAL REGIONS 8Q23.3-Q24.11 AND 2Q33-QTER - CONSTRUCTION OF DNA LIBRARIES AND ISOLATION OF THEIR CLONES |
MICRODISSECTION OF HUMAN CHROMOSOMAL REGIONS 8Q23.3-Q24.11 AND 2Q33-QTER - CONSTRUCTION OF DNA LIBRARIES AND ISOLATION OF THEIR CLONES |
MICRODISSECTION OF HUMAN CHROMOSOMAL REGIONS 8Q23.3-Q24.11 AND 2Q33-QTER - CONSTRUCTION OF DNA LIBRARIES AND ISOLATION OF THEIR CLONES |
GENOMICS, 13, 2, 349-354 |
GENOMICS, 13, 2, 349-354 |
GENOMICS, 13, 2, 349-354 |
1992/06 |
有 |
英語 |
研究論文(学術雑誌) |
公開 |
| HX DENG, K YOSHIURA, RW DIRKS, N HARADA, T HIROTA, K TSUKAMOTO, Y JINNO, N NIIKAWA |
HX DENG, K YOSHIURA, RW DIRKS, N HARADA, T HIROTA, K TSUKAMOTO, Y JINNO, N NIIKAWA |
HX DENG, K YOSHIURA, RW DIRKS, N HARADA, T HIROTA, K TSUKAMOTO, Y JINNO, N NIIKAWA |
CHROMOSOME-BAND-SPECIFIC PAINTING - CHROMOSOME INSITU SUPPRESSION HYBRIDIZATION USING PCR PRODUCTS FROM A MICRODISSECTED CHROMOSOME BAND AS A PROBE POOL |
CHROMOSOME-BAND-SPECIFIC PAINTING - CHROMOSOME INSITU SUPPRESSION HYBRIDIZATION USING PCR PRODUCTS FROM A MICRODISSECTED CHROMOSOME BAND AS A PROBE POOL |
CHROMOSOME-BAND-SPECIFIC PAINTING - CHROMOSOME INSITU SUPPRESSION HYBRIDIZATION USING PCR PRODUCTS FROM A MICRODISSECTED CHROMOSOME BAND AS A PROBE POOL |
HUMAN GENETICS, 89, 1, 13-17 |
HUMAN GENETICS, 89, 1, 13-17 |
HUMAN GENETICS, 89, 1, 13-17 |
1992/04 |
有 |
英語 |
研究論文(学術雑誌) |
公開 |
| J HAMABE, Y FUKUSHIMA, N HARADA, K ABE, N MATSUO, T NAGAI, A YOSHIOKA, H TONOKI, R TSUKINO, N NIIKAWA |
J HAMABE, Y FUKUSHIMA, N HARADA, K ABE, N MATSUO, T NAGAI, A YOSHIOKA, H TONOKI, R TSUKINO, N NIIKAWA |
J HAMABE, Y FUKUSHIMA, N HARADA, K ABE, N MATSUO, T NAGAI, A YOSHIOKA, H TONOKI, R TSUKINO, N NIIKAWA |
MOLECULAR STUDY OF THE PRADER-WILLI SYNDROME - DELETION, RFLP, AND PHENOTYPE ANALYSES OF 50 PATIENTS |
MOLECULAR STUDY OF THE PRADER-WILLI SYNDROME - DELETION, RFLP, AND PHENOTYPE ANALYSES OF 50 PATIENTS |
MOLECULAR STUDY OF THE PRADER-WILLI SYNDROME - DELETION, RFLP, AND PHENOTYPE ANALYSES OF 50 PATIENTS |
AMERICAN JOURNAL OF MEDICAL GENETICS, 41, 1, 54-63 |
AMERICAN JOURNAL OF MEDICAL GENETICS, 41, 1, 54-63 |
AMERICAN JOURNAL OF MEDICAL GENETICS, 41, 1, 54-63 |
1991/10 |
有 |
英語 |
研究論文(学術雑誌) |
公開 |
| N NIIKAWA, HX DENG, K ABE, N HARADA, T OKADA, H TSUCHIYA, AKABOSHI, I, MATSUDA, I, Y FUKUSHIMA, Y KANEKO, A KUWANO, T KAJII |
N NIIKAWA, HX DENG, K ABE, N HARADA, T OKADA, H TSUCHIYA, AKABOSHI, I, MATSUDA, I, Y FUKUSHIMA, Y KANEKO, A KUWANO, T KAJII |
N NIIKAWA, HX DENG, K ABE, N HARADA, T OKADA, H TSUCHIYA, AKABOSHI, I, MATSUDA, I, Y FUKUSHIMA, Y KANEKO, A KUWANO, T KAJII |
POSSIBLE MAPPING OF THE GENE FOR TRANSIENT MYELOPROLIFERATIVE SYNDROME AT 21Q11.2 |
POSSIBLE MAPPING OF THE GENE FOR TRANSIENT MYELOPROLIFERATIVE SYNDROME AT 21Q11.2 |
POSSIBLE MAPPING OF THE GENE FOR TRANSIENT MYELOPROLIFERATIVE SYNDROME AT 21Q11.2 |
HUMAN GENETICS, 87, 5, 561-566 |
HUMAN GENETICS, 87, 5, 561-566 |
HUMAN GENETICS, 87, 5, 561-566 |
1991/09 |
有 |
英語 |
研究論文(学術雑誌) |
公開 |
| K ABE, HX DENG, N HARADA, K YOSHIURA, T OHHIRA, N NIIKAWA |
K ABE, HX DENG, N HARADA, K YOSHIURA, T OHHIRA, N NIIKAWA |
K ABE, HX DENG, N HARADA, K YOSHIURA, T OHHIRA, N NIIKAWA |
MONOSOMY FOR 21PTER-Q21 - CASE-REPORT AND ASSIGNMENT OF A DNA CLONE (FR8-77) TO THE DELETED SEGMENT |
MONOSOMY FOR 21PTER-Q21 - CASE-REPORT AND ASSIGNMENT OF A DNA CLONE (FR8-77) TO THE DELETED SEGMENT |
MONOSOMY FOR 21PTER-Q21 - CASE-REPORT AND ASSIGNMENT OF A DNA CLONE (FR8-77) TO THE DELETED SEGMENT |
JAPANESE JOURNAL OF HUMAN GENETICS, 35, 4, 303-310 |
JAPANESE JOURNAL OF HUMAN GENETICS, 35, 4, 303-310 |
JAPANESE JOURNAL OF HUMAN GENETICS, 35, 4, 303-310 |
1990/12 |
有 |
英語 |
研究論文(学術雑誌) |
公開 |
| N HARADA, K ABE, T KONDOH, T HIROTA, N NIIKAWA |
N HARADA, K ABE, T KONDOH, T HIROTA, N NIIKAWA |
N HARADA, K ABE, T KONDOH, T HIROTA, N NIIKAWA |
SATELLITED CHROMOSOME-9 IN A BOY WITH MULTIPLE ANOMALIES |
SATELLITED CHROMOSOME-9 IN A BOY WITH MULTIPLE ANOMALIES |
SATELLITED CHROMOSOME-9 IN A BOY WITH MULTIPLE ANOMALIES |
JAPANESE JOURNAL OF HUMAN GENETICS, 34, 4, 297-305 |
JAPANESE JOURNAL OF HUMAN GENETICS, 34, 4, 297-305 |
JAPANESE JOURNAL OF HUMAN GENETICS, 34, 4, 297-305 |
1989/12 |
有 |
英語 |
研究論文(学術雑誌) |
公開 |
| S ISHIKIRIYAMA, H TONOKI, Y SHIBUYA, S CHIN, N HARADA, K ABE, N NIIKAWA |
S ISHIKIRIYAMA, H TONOKI, Y SHIBUYA, S CHIN, N HARADA, K ABE, N NIIKAWA |
S ISHIKIRIYAMA, H TONOKI, Y SHIBUYA, S CHIN, N HARADA, K ABE, N NIIKAWA |
WAARDENBURG SYNDROME TYPE-I IN A CHILD WITH DENOVO INVERSION (2)(Q35Q37.3) |
WAARDENBURG SYNDROME TYPE-I IN A CHILD WITH DENOVO INVERSION (2)(Q35Q37.3) |
WAARDENBURG SYNDROME TYPE-I IN A CHILD WITH DENOVO INVERSION (2)(Q35Q37.3) |
AMERICAN JOURNAL OF MEDICAL GENETICS, 33, 4, 505-507 |
AMERICAN JOURNAL OF MEDICAL GENETICS, 33, 4, 505-507 |
AMERICAN JOURNAL OF MEDICAL GENETICS, 33, 4, 505-507 |
1989/08 |
有 |
英語 |
研究論文(学術雑誌) |
公開 |
| T KAMEI, J HAMABE, T MATSUMOTO, K ABE, N HARADA, S ISHIKIRIYAMA, T HASEGAWA, K MIYAZAKI, S MIZUNO, K NARAHARA, S YUKIZANE, N NIIKAWA |
T KAMEI, J HAMABE, T MATSUMOTO, K ABE, N HARADA, S ISHIKIRIYAMA, T HASEGAWA, K MIYAZAKI, S MIZUNO, K NARAHARA, S YUKIZANE, N NIIKAWA |
T KAMEI, J HAMABE, T MATSUMOTO, K ABE, N HARADA, S ISHIKIRIYAMA, T HASEGAWA, K MIYAZAKI, S MIZUNO, K NARAHARA, S YUKIZANE, N NIIKAWA |
A MOLECULAR DELETION STUDY WITH SOUTHERN HYBRIDIZATION ON TYPICAL PRADER-WILLI SYNDROME (PWS) PATIENTS WITH VARIOUS CHROMOSOME-ABNORMALITIES INVOLVING 15Q11-12 AND ON AN ATYPICAL PWS PATIENT WITH APPARENTLY NORMAL KARYOTYPE |
A MOLECULAR DELETION STUDY WITH SOUTHERN HYBRIDIZATION ON TYPICAL PRADER-WILLI SYNDROME (PWS) PATIENTS WITH VARIOUS CHROMOSOME-ABNORMALITIES INVOLVING 15Q11-12 AND ON AN ATYPICAL PWS PATIENT WITH APPARENTLY NORMAL KARYOTYPE |
A MOLECULAR DELETION STUDY WITH SOUTHERN HYBRIDIZATION ON TYPICAL PRADER-WILLI SYNDROME (PWS) PATIENTS WITH VARIOUS CHROMOSOME-ABNORMALITIES INVOLVING 15Q11-12 AND ON AN ATYPICAL PWS PATIENT WITH APPARENTLY NORMAL KARYOTYPE |
JAPANESE JOURNAL OF HUMAN GENETICS, 33, 4, 477-486 |
JAPANESE JOURNAL OF HUMAN GENETICS, 33, 4, 477-486 |
JAPANESE JOURNAL OF HUMAN GENETICS, 33, 4, 477-486 |
1988/12 |
有 |
英語 |
研究論文(学術雑誌) |
公開 |
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