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3,351 results

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Life-threatening muscle complications of COL4A1-related disorder.
Okano S, Shimada S, Tanaka R, Okayama A, Kajihama A, Suzuki N, Nakau K, Takahashi S, Matsumoto N, Saitsu H, Tanboon J, Nishino I, Azuma H. Okano S, et al. Among authors: matsumoto n. Brain Dev. 2020 Jan;42(1):93-97. doi: 10.1016/j.braindev.2019.09.001. Epub 2019 Sep 18. Brain Dev. 2020. PMID: 31540749
Angelman syndrome caused by an identical familial 1,487-kb deletion.
Sato K, Iwakoshi M, Shimokawa O, Sakai H, Ohta T, Saitoh S, Miyake N, Niikawa N, Harada N, Saitsu H, Mizuguchi T, Matsumoto N. Sato K, et al. Among authors: matsumoto n. Am J Med Genet A. 2007 Jan 1;143A(1):98-101. doi: 10.1002/ajmg.a.31550. Am J Med Genet A. 2007. PMID: 17152063 No abstract available.
FBN2, FBN1, TGFBR1, and TGFBR2 analyses in congenital contractural arachnodactyly.
Nishimura A, Sakai H, Ikegawa S, Kitoh H, Haga N, Ishikiriyama S, Nagai T, Takada F, Ohata T, Tanaka F, Kamasaki H, Saitsu H, Mizuguchi T, Matsumoto N. Nishimura A, et al. Among authors: matsumoto n. Am J Med Genet A. 2007 Apr 1;143A(7):694-8. doi: 10.1002/ajmg.a.31639. Am J Med Genet A. 2007. PMID: 17345643
A locus for ophthalmo-acromelic syndrome mapped to 10p11.23.
Hamanoue H, Megarbane A, Tohma T, Nishimura A, Mizuguchi T, Saitsu H, Sakai H, Miura S, Toda T, Miyake N, Niikawa N, Yoshiura K, Hirahara F, Matsumoto N. Hamanoue H, et al. Among authors: matsumoto n. Am J Med Genet A. 2009 Mar;149A(3):336-42. doi: 10.1002/ajmg.a.32656. Am J Med Genet A. 2009. PMID: 19208380
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: matsumoto n. 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.
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: matsumoto n. Hum Mutat. 2010 Aug;31(8):966-74. doi: 10.1002/humu.21300. Hum Mutat. 2010. PMID: 20533528
3,351 results