Nishimura G - Search Results

1

A de novo deletion of 20q11.2-q12 in a boy presenting with abnormal hands and feet, retinal dysplasia, and intractable feeding difficulty.

Hiraki Y, Nishimura A, Hayashidani M, Terada Y, Nishimura G, Okamoto N, Nishina S, Tsurusaki Y, Doi H, Saitsu H, Miyake N, Matsumoto N. Hiraki Y, et al. Among authors: nishimura a, nishimura g. Am J Med Genet A. 2011 Feb;155A(2):409-14. doi: 10.1002/ajmg.a.33818. Epub 2011 Jan 13. Am J Med Genet A. 2011. PMID: 21271663

2

Congenital anomaly of cervical vertebrae is a major complication of Rubinstein-Taybi syndrome.

Yamamoto T, Kurosawa K, Masuno M, Okuzumi S, Kondo S, Miyama S, Okamoto N, Aida N, Nishimura G. Yamamoto T, et al. Among authors: nishimura g. Am J Med Genet A. 2005 Jun 1;135(2):130-3. doi: 10.1002/ajmg.a.30708. Am J Med Genet A. 2005. PMID: 15832359

3

Microdeletion in the SHOX 3' region associated with skeletal phenotypes of Langer mesomelic dysplasia in a 45,X/46,X,r(X) infant and Leri-Weill dyschondrosteosis in her 46,XX mother: implication for the SHOX enhancer.

Fukami M, Okuyama T, Yamamori S, Nishimura G, Ogata T. Fukami M, et al. Among authors: nishimura g. Am J Med Genet A. 2005 Aug 15;137(1):72-6. doi: 10.1002/ajmg.a.30852. Am J Med Genet A. 2005. PMID: 16007631 Review.

4

Segmental and full paternal isodisomy for chromosome 14 in three patients: narrowing the critical region and implication for the clinical features.

Kagami M, Nishimura G, Okuyama T, Hayashidani M, Takeuchi T, Tanaka S, Ishino F, Kurosawa K, Ogata T. Kagami M, et al. Among authors: nishimura g. Am J Med Genet A. 2005 Oct 1;138A(2):127-32. doi: 10.1002/ajmg.a.30941. Am J Med Genet A. 2005. PMID: 16152632 Review.

5

Nevo syndrome with an NSD1 deletion: a variant of Sotos syndrome?

Kanemoto N, Kanemoto K, Nishimura G, Kamoda T, Visser R, Shimokawa O, Matsumoto N. Kanemoto N, et al. Among authors: nishimura g. Am J Med Genet A. 2006 Jan 1;140(1):70-3. doi: 10.1002/ajmg.a.30776. Am J Med Genet A. 2006. PMID: 16329110

6

Two new cases of pure 1q terminal deletion presenting with brain malformations.

Hiraki Y, Okamoto N, Ida T, Nakata Y, Kamada M, Kanemura Y, Yamasaki M, Fujita H, Nishimura G, Kato M, Harada N, Matsumoto N. Hiraki Y, et al. Among authors: nishimura g. Am J Med Genet A. 2008 May 15;146A(10):1241-7. doi: 10.1002/ajmg.a.32275. Am J Med Genet A. 2008. PMID: 18384145

7

De novo deletion of 1q24.3-q31.2 in a patient with severe growth retardation.

Nishimura A, Hiraki Y, Shimoda H, Nishimura G, Tadaki H, Tsurusaki Y, Miyake N, Saitsu H, Matsumoto N. Nishimura A, et al. Among authors: nishimura g. Am J Med Genet A. 2010 May;152A(5):1322-5. doi: 10.1002/ajmg.a.33371. Am J Med Genet A. 2010. PMID: 20425845 No abstract available.

8

A new Ehlers-Danlos syndrome with craniofacial characteristics, multiple congenital contractures, progressive joint and skin laxity, and multisystem fragility-related manifestations.

Kosho T, Miyake N, Hatamochi A, Takahashi J, Kato H, Miyahara T, Igawa Y, Yasui H, Ishida T, Ono K, Kosuda T, Inoue A, Kohyama M, Hattori T, Ohashi H, Nishimura G, Kawamura R, Wakui K, Fukushima Y, Matsumoto N. Kosho T, et al. Among authors: nishimura g. Am J Med Genet A. 2010 Jun;152A(6):1333-46. doi: 10.1002/ajmg.a.33498. Am J Med Genet A. 2010. PMID: 20503305

9

Loss-of-function mutations of CHST14 in a new type of Ehlers-Danlos syndrome.

Miyake N, Kosho T, Mizumoto S, Furuichi T, Hatamochi A, Nagashima Y, Arai E, Takahashi K, Kawamura R, Wakui K, Takahashi J, Kato H, Yasui H, Ishida T, Ohashi H, Nishimura G, Shiina M, Saitsu H, Tsurusaki Y, Doi H, Fukushima Y, Ikegawa S, Yamada S, Sugahara K, Matsumoto N. Miyake N, et al. Among authors: nishimura g. Hum Mutat. 2010 Aug;31(8):966-74. doi: 10.1002/humu.21300. Hum Mutat. 2010. PMID: 20533528

10

CANT1 mutation is also responsible for Desbuquois dysplasia, type 2 and Kim variant.

Furuichi T, Dai J, Cho TJ, Sakazume S, Ikema M, Matsui Y, Baynam G, Nagai T, Miyake N, Matsumoto N, Ohashi H, Unger S, Superti-Furga A, Kim OH, Nishimura G, Ikegawa S. Furuichi T, et al. Among authors: nishimura g. J Med Genet. 2011 Jan;48(1):32-7. doi: 10.1136/jmg.2010.080226. Epub 2010 Oct 30. J Med Genet. 2011. PMID: 21037275

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