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489 results

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A case of new PCDH12 gene variants presented as dyskinetic cerebral palsy with epilepsy.
Suzuki-Muromoto S, Wakusawa K, Miyabayashi T, Sato R, Okubo Y, Endo W, Inui T, Togashi N, Kato A, Oba H, Nakashima M, Saitsu H, Matsumoto N, Haginoya K. Suzuki-Muromoto S, et al. Among authors: saitsu h. J Hum Genet. 2018 Jun;63(6):749-753. doi: 10.1038/s10038-018-0432-0. Epub 2018 Mar 19. J Hum Genet. 2018. PMID: 29556033
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: saitsu h. 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: saitsu h. 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
Alu-related 5q35 microdeletions in Sotos syndrome.
Mochizuki J, Saitsu H, Mizuguchi T, Nishimura A, Visser R, Kurotaki N, Miyake N, Unno N, Matsumoto N. Mochizuki J, et al. Among authors: saitsu h. Clin Genet. 2008 Oct;74(4):384-91. doi: 10.1111/j.1399-0004.2008.01032.x. Epub 2008 May 25. Clin Genet. 2008. PMID: 18505455
Microarray comparative genomic hybridization analysis of 59 patients with schizophrenia.
Mizuguchi T, Hashimoto R, Itokawa M, Sano A, Shimokawa O, Yoshimura Y, Harada N, Miyake N, Nishimura A, Saitsu H, Sosonkina N, Niikawa N, Kunugi H, Matsumoto N. Mizuguchi T, et al. Among authors: saitsu h. J Hum Genet. 2008;53(10):914-919. doi: 10.1007/s10038-008-0327-6. Epub 2008 Aug 7. J Hum Genet. 2008. PMID: 18685808
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: saitsu h. 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
489 results