Takada F - Search Results

1

Mutations of the fibroblast growth factor receptor-3 gene in one familial and six sporadic cases of achondroplasia in Japanese patients.

Ikegawa S, Fukushima Y, Isomura M, Takada F, Nakamura Y. Ikegawa S, et al. Among authors: takada f. Hum Genet. 1995 Sep;96(3):309-11. doi: 10.1007/BF00210413. Hum Genet. 1995. PMID: 7649548

2

Clinical application of array-based comparative genomic hybridization by two-stage screening for 536 patients with mental retardation and multiple congenital anomalies.

Hayashi S, Imoto I, Aizu Y, Okamoto N, Mizuno S, Kurosawa K, Okamoto N, Honda S, Araki S, Mizutani S, Numabe H, Saitoh S, Kosho T, Fukushima Y, Mitsubuchi H, Endo F, Chinen Y, Kosaki R, Okuyama T, Ohki H, Yoshihashi H, Ono M, Takada F, Ono H, Yagi M, Matsumoto H, Makita Y, Hata A, Inazawa J. Hayashi S, et al. Among authors: takada f. J Hum Genet. 2011 Feb;56(2):110-24. doi: 10.1038/jhg.2010.129. Epub 2010 Oct 28. J Hum Genet. 2011. PMID: 20981036

3

A -16C>T substitution in the 5' UTR of the puratrophin-1 gene is prevalent in autosomal dominant cerebellar ataxia in Nagano.

Ohata T, Yoshida K, Sakai H, Hamanoue H, Mizuguchi T, Shimizu Y, Okano T, Takada F, Ishikawa K, Mizusawa H, Yoshiura KI, Fukushima Y, Ikeda SI, Matsumoto N. Ohata T, et al. Among authors: takada f. J Hum Genet. 2006;51(5):461-466. doi: 10.1007/s10038-006-0385-6. Epub 2006 Apr 14. J Hum Genet. 2006. PMID: 16614795

4

Comprehensive genetic analysis of relevant four genes in 49 patients with Marfan syndrome or Marfan-related phenotypes.

Sakai H, Visser R, Ikegawa S, Ito E, Numabe H, Watanabe Y, Mikami H, Kondoh T, Kitoh H, Sugiyama R, Okamoto N, Ogata T, Fodde R, Mizuno S, Takamura K, Egashira M, Sasaki N, Watanabe S, Nishimaki S, Takada F, Nagai T, Okada Y, Aoka Y, Yasuda K, Iwasa M, Kogaki S, Harada N, Mizuguchi T, Matsumoto N. Sakai H, et al. Among authors: takada f. Am J Med Genet A. 2006 Aug 15;140(16):1719-25. doi: 10.1002/ajmg.a.31353. Am J Med Genet A. 2006. PMID: 16835936

5

Six years' accomplishment of the Initiative on Rare and Undiagnosed Diseases: nationwide project in Japan to discover causes, mechanisms, and cures.

Takahashi Y, Date H, Oi H, Adachi T, Imanishi N, Kimura E, Takizawa H, Kosugi S, Matsumoto N, Kosaki K, Matsubara Y; IRUD Consortium; Mizusawa H. Takahashi Y, et al. J Hum Genet. 2022 Sep;67(9):505-513. doi: 10.1038/s10038-022-01025-0. Epub 2022 Mar 23. J Hum Genet. 2022. PMID: 35318459 Free PMC article.

6

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: takada f. 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

7

Identification of a novel missense mutation of MAF in a Japanese family with congenital cataract by whole exome sequencing: a clinical report and review of literature.

Narumi Y, Nishina S, Tokimitsu M, Aoki Y, Kosaki R, Wakui K, Azuma N, Murata T, Takada F, Fukushima Y, Kosho T. Narumi Y, et al. Among authors: takada f. Am J Med Genet A. 2014 May;164A(5):1272-6. doi: 10.1002/ajmg.a.36433. Epub 2014 Mar 24. Am J Med Genet A. 2014. PMID: 24664492 Review.

8

Clinical Genetics in Japan: Efforts of Human Genetics Societies and Related Organizations.

Fukushima Y, Takada F. Fukushima Y, et al. Among authors: takada f. JMA J. 2020 Jan 15;3(1):1-8. doi: 10.31662/jmaj.2019-0019. Epub 2019 Sep 10. JMA J. 2020. PMID: 33324770 Free PMC article. Review.

9

Functional analysis of PTPN11/SHP-2 mutants identified in Noonan syndrome and childhood leukemia.

Niihori T, Aoki Y, Ohashi H, Kurosawa K, Kondoh T, Ishikiriyama S, Kawame H, Kamasaki H, Yamanaka T, Takada F, Nishio K, Sakurai M, Tamai H, Nagashima T, Suzuki Y, Kure S, Fujii K, Imaizumi M, Matsubara Y. Niihori T, et al. Among authors: takada f. J Hum Genet. 2005;50(4):192-202. doi: 10.1007/s10038-005-0239-7. Epub 2005 Apr 15. J Hum Genet. 2005. PMID: 15834506

10

[Frequent missense mutations of fibroblast growth factor receptor (FGFR) gene families in craniofacial syndromes in Japanese patients].

Ishigaki M, Wada C, Toyo-oka Y, Yamabe H, Ohnuki Y, Takada F, Yamazaki Y, Ohtani H. Ishigaki M, et al. Among authors: takada f. Rinsho Byori. 1996 May;44(5):439-43. Rinsho Byori. 1996. PMID: 8676563 Japanese.

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