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Human genetic variation database, a reference database of genetic variations in the Japanese population.
Higasa K, Miyake N, Yoshimura J, Okamura K, Niihori T, Saitsu H, Doi K, Shimizu M, Nakabayashi K, Aoki Y, Tsurusaki Y, Morishita S, Kawaguchi T, Migita O, Nakayama K, Nakashima M, Mitsui J, Narahara M, Hayashi K, Funayama R, Yamaguchi D, Ishiura H, Ko WY, Hata K, Nagashima T, Yamada R, Matsubara Y, Umezawa A, Tsuji S, Matsumoto N, Matsuda F. Higasa K, et al. Among authors: saitsu h. J Hum Genet. 2016 Jun;61(6):547-53. doi: 10.1038/jhg.2016.12. Epub 2016 Feb 25. J Hum Genet. 2016. PMID: 26911352 Free PMC article.
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
Craniosynostosis in a patient with a de novo 15q15-q22 deletion.
Hiraki Y, Moriuchi M, Okamoto N, Ishikawa N, Sugimoto Y, Eguchi K, Sakai H, Saitsu H, Mizuguchi T, Harada N, Matsumoto N. Hiraki Y, et al. Among authors: saitsu h. Am J Med Genet A. 2008 Jun 1;146A(11):1462-5. doi: 10.1002/ajmg.a.32339. Am J Med Genet A. 2008. PMID: 18449934
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
476 results