Kosho T - Search Results

1

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: kosho t. Hum Mutat. 2010 Aug;31(8):966-74. doi: 10.1002/humu.21300. Hum Mutat. 2010. PMID: 20533528

2

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

3

Refined mapping of the gene for otopalatodigital syndrome type I.

Kosho T, Uemura T, Tanimura M, Ohashi H, Muroya K, Ogata T. Kosho T, et al. J Med Genet. 2002 Feb;39(2):E7. doi: 10.1136/jmg.39.2.e7. J Med Genet. 2002. PMID: 11836376 Free PMC article. No abstract available.

4

"Ring syndrome" involving chromosome 2 confirmed by FISH analysis using chromosome-specific subtelomeric probes.

Kosho T, Matsushima K, Sahashi T, Mitsui N, Fukushima Y, Sobajima H, Ohashi H. Kosho T, et al. Genet Couns. 2005;16(1):65-70. Genet Couns. 2005. PMID: 15844781 Review.

5

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

6

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

7

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

8

[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.

9

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.

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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