Kosho T - Search Results

1

Breakpoint determination of X;autosome balanced translocations in four patients with premature ovarian failure.

Nishimura-Tadaki A, Wada T, Bano G, Gough K, Warner J, Kosho T, Ando N, Hamanoue H, Sakakibara H, Nishimura G, Tsurusaki Y, Doi H, Miyake N, Wakui K, Saitsu H, Fukushima Y, Hirahara F, Matsumoto N. Nishimura-Tadaki A, et al. Among authors: kosho t. J Hum Genet. 2011 Feb;56(2):156-60. doi: 10.1038/jhg.2010.155. Epub 2010 Dec 9. J Hum Genet. 2011. PMID: 21150920

2

Structural analysis of a rare rearranged Y chromosome and its bearing on genotype-phenotype correlation.

Ogata T, Wakui K, Kosho T, Muroya K, Yamanouchi Y, Takano T, Fukushima Y, Rappold G, Suzuki Y. Ogata T, et al. Among authors: kosho t. Am J Med Genet. 2000 Jun 5;92(4):256-9. Am J Med Genet. 2000. PMID: 10842291

3

Short stature homeobox-containing gene duplication on the der(X) chromosome in a female with 45,X/46,X, der(X), gonadal dysgenesis, and tall stature.

Ogata T, Kosho T, Wakui K, Fukushima Y, Yoshimoto M, Miharu N. Ogata T, et al. Among authors: kosho t. J Clin Endocrinol Metab. 2000 Aug;85(8):2927-30. doi: 10.1210/jcem.85.8.6745. J Clin Endocrinol Metab. 2000. PMID: 10946905

4

Ehlers-Danlos syndrome type VIB with characteristic facies, decreased curvatures of the spinal column, and joint contractures in two unrelated girls.

Kosho T, Takahashi J, Ohashi H, Nishimura G, Kato H, Fukushima Y. Kosho T, et al. Am J Med Genet A. 2005 Oct 15;138A(3):282-7. doi: 10.1002/ajmg.a.30965. Am J Med Genet A. 2005. PMID: 16158441

5

BAC array CGH reveals genomic aberrations in idiopathic mental retardation.

Miyake N, Shimokawa O, Harada N, Sosonkina N, Okubo A, Kawara H, Okamoto N, Kurosawa K, Kawame H, Iwakoshi M, Kosho T, Fukushima Y, Makita Y, Yokoyama Y, Yamagata T, Kato M, Hiraki Y, Nomura M, Yoshiura K, Kishino T, Ohta T, Mizuguchi T, Niikawa N, Matsumoto N. Miyake N, et al. Among authors: kosho t. Am J Med Genet A. 2006 Feb 1;140(3):205-11. doi: 10.1002/ajmg.a.31098. Am J Med Genet A. 2006. PMID: 16419101

6

Neonatal management of trisomy 18: clinical details of 24 patients receiving intensive treatment.

Kosho T, Nakamura T, Kawame H, Baba A, Tamura M, Fukushima Y. Kosho T, et al. Am J Med Genet A. 2006 May 1;140(9):937-44. doi: 10.1002/ajmg.a.31175. Am J Med Genet A. 2006. PMID: 16528744

7

[Beckwith-Wiedemann syndrome].

Kosho T, Fukushima Y. Kosho T, et al. Nihon Rinsho. 2006 Sep 28;Suppl 3:587-90. Nihon Rinsho. 2006. PMID: 17022614 Review. Japanese. No abstract available.

8

Genetic aspects of the vascular type of Ehlers-Danlos syndrome (vEDS, EDSIV) in Japan.

Watanabe A, Kosho T, Wada T, Sakai N, Fujimoto M, Fukushima Y, Shimada T. Watanabe A, et al. Among authors: kosho t. Circ J. 2007 Feb;71(2):261-5. doi: 10.1253/circj.71.261. Circ J. 2007. PMID: 17251678 Free article.

9

Molecular and clinical analyses of Japanese patients with carbamoylphosphate synthetase 1 (CPS1) deficiency.

Kurokawa K, Yorifuji T, Kawai M, Momoi T, Nagasaka H, Takayanagi M, Kobayashi K, Yoshino M, Kosho T, Adachi M, Otsuka H, Yamamoto S, Murata T, Suenaga A, Ishii T, Terada K, Shimura N, Kiwaki K, Shintaku H, Yamakawa M, Nakabayashi H, Wakutani Y, Nakahata T. Kurokawa K, et al. Among authors: kosho t. J Hum Genet. 2007;52(4):349-354. doi: 10.1007/s10038-007-0122-9. Epub 2007 Feb 20. J Hum Genet. 2007. PMID: 17310273

10

Mandibuloacral dysplasia and a novel LMNA mutation in a woman with severe progressive skeletal changes.

Kosho T, Takahashi J, Momose T, Nakamura A, Sakurai A, Wada T, Yoshida K, Wakui K, Suzuki T, Kasuga K, Nishimura G, Kato H, Fukushima Y. Kosho T, et al. Am J Med Genet A. 2007 Nov 1;143A(21):2598-603. doi: 10.1002/ajmg.a.31983. Am J Med Genet A. 2007. PMID: 17935239

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