Hasegawa T - Search Results

1

PAPSS2 mutations cause autosomal recessive brachyolmia.

Miyake N, Elcioglu NH, Iida A, Isguven P, Dai J, Murakami N, Takamura K, Cho TJ, Kim OH, Hasegawa T, Nagai T, Ohashi H, Nishimura G, Matsumoto N, Ikegawa S. Miyake N, et al. Among authors: hasegawa t. J Med Genet. 2012 Aug;49(8):533-8. doi: 10.1136/jmedgenet-2012-101039. Epub 2012 Jul 11. J Med Genet. 2012. PMID: 22791835

2

PTPN11 (protein-tyrosine phosphatase, nonreceptor-type 11) mutations in seven Japanese patients with Noonan syndrome.

Kosaki K, Suzuki T, Muroya K, Hasegawa T, Sato S, Matsuo N, Kosaki R, Nagai T, Hasegawa Y, Ogata T. Kosaki K, et al. Among authors: hasegawa t, hasegawa y. J Clin Endocrinol Metab. 2002 Aug;87(8):3529-33. doi: 10.1210/jcem.87.8.8694. J Clin Endocrinol Metab. 2002. PMID: 12161469

3

Duplication of 8p23.2: a benign cytogenetic variant?

Harada N, Takano J, Kondoh T, Ohashi H, Hasegawa T, Sugawara H, Ida T, Yoshiura K, Ohta T, Kishino T, Kajii T, Niikawa N, Matsumoto N. Harada N, et al. Among authors: hasegawa t. Am J Med Genet. 2002 Aug 15;111(3):285-8. doi: 10.1002/ajmg.10584. Am J Med Genet. 2002. PMID: 12210324

4

Autopsy case of microcephalic osteodysplastic primordial "dwarfism" type II.

Fukuzawa R, Sato S, Sullivan MJ, Nishimura G, Hasegawa T, Matsuo N. Fukuzawa R, et al. Among authors: hasegawa t. Am J Med Genet. 2002 Nov 15;113(1):93-6. doi: 10.1002/ajmg.10716. Am J Med Genet. 2002. PMID: 12400072

5

Microcephalic osteodysplastic primordial short stature type II with cafe-au-lait spots and moyamoya disease.

Nishimura G, Hasegawa T, Fujino M, Hori N, Tomita Y. Nishimura G, et al. Among authors: hasegawa t. Am J Med Genet A. 2003 Mar 15;117A(3):299-301. doi: 10.1002/ajmg.a.10230. Am J Med Genet A. 2003. PMID: 12599197 No abstract available.

6

Ischiospinal dysostosis with cystic kidney disease: report of two cases.

Nishimura G, Kim OH, Sato S, Hasegawa T. Nishimura G, et al. Among authors: hasegawa t. Clin Dysmorphol. 2003 Apr;12(2):101-4. doi: 10.1097/00019605-200304000-00005. Clin Dysmorphol. 2003. PMID: 12868471

7

Spondyloepiphyseal dysplasia Maroteaux type: report of three patients from two families and exclusion of type II collagen defects.

Nishimura G, Kizu R, Kijima Y, Sakai K, Kawaguchi Y, Kimura T, Matsushita I, Shirahama S, Ikeda T, Ikegawa S, Hasegawa T. Nishimura G, et al. Among authors: hasegawa t. Am J Med Genet A. 2003 Aug 1;120A(4):498-502. doi: 10.1002/ajmg.a.20095. Am J Med Genet A. 2003. PMID: 12884428

8

Newly recognized syndrome of metaphyseal undermodeling, spondylar dysplasia, and overgrowth: report of two adolescents and a child.

Nishimura G, Hasegawa T, Kinoshita E, Tanaka Y, Kurosawa K, Yoshimoto M. Nishimura G, et al. Among authors: hasegawa t. Am J Med Genet A. 2004 Jul 15;128A(2):204-8. doi: 10.1002/ajmg.a.30030. Am J Med Genet A. 2004. PMID: 15214018

9

Two novel and one recurrent PTPN11 mutations in LEOPARD syndrome.

Yoshida R, Nagai T, Hasegawa T, Kinoshita E, Tanaka T, Ogata T. Yoshida R, et al. Among authors: hasegawa t. Am J Med Genet A. 2004 Nov 1;130A(4):432-4. doi: 10.1002/ajmg.a.30281. Am J Med Genet A. 2004. PMID: 15389709 No abstract available.

10

Cytochrome P450 oxidoreductase gene mutations and Antley-Bixler syndrome with abnormal genitalia and/or impaired steroidogenesis: molecular and clinical studies in 10 patients.

Fukami M, Horikawa R, Nagai T, Tanaka T, Naiki Y, Sato N, Okuyama T, Nakai H, Soneda S, Tachibana K, Matsuo N, Sato S, Homma K, Nishimura G, Hasegawa T, Ogata T. Fukami M, et al. Among authors: hasegawa t. J Clin Endocrinol Metab. 2005 Jan;90(1):414-26. doi: 10.1210/jc.2004-0810. Epub 2004 Oct 13. J Clin Endocrinol Metab. 2005. PMID: 15483095

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