Kosaki R - Search Results

1

Comprehensive clinical and molecular studies in split-hand/foot malformation: identification of two plausible candidate genes (LRP6 and UBA2).

Yamoto K, Saitsu H, Nishimura G, Kosaki R, Takayama S, Haga N, Tonoki H, Okumura A, Horii E, Okamoto N, Suzumura H, Ikegawa S, Kato F, Fujisawa Y, Nagata E, Takada S, Fukami M, Ogata T. Yamoto K, et al. Among authors: kosaki r. Eur J Hum Genet. 2019 Dec;27(12):1845-1857. doi: 10.1038/s41431-019-0473-7. Epub 2019 Jul 22. Eur J Hum Genet. 2019. PMID: 31332306 Free PMC article.

2

Imprinting of human GRB10 and its mutations in two patients with Russell-Silver syndrome.

Yoshihashi H, Maeyama K, Kosaki R, Ogata T, Tsukahara M, Goto Y, Hata J, Matsuo N, Smith RJ, Kosaki K. Yoshihashi H, et al. Among authors: kosaki r, kosaki k. Am J Hum Genet. 2000 Aug;67(2):476-82. doi: 10.1086/302997. Epub 2000 Jun 12. Am J Hum Genet. 2000. PMID: 10856193 Free PMC article.

3

Characterization of the aryl hydrocarbon receptor repressor gene and association of its Pro185Ala polymorphism with micropenis.

Fujita H, Kosaki R, Yoshihashi H, Ogata T, Tomita M, Hasegawa T, Takahashi T, Matsuo N, Kosaki K. Fujita H, et al. Among authors: kosaki r, kosaki k. Teratology. 2002 Jan;65(1):10-8. doi: 10.1002/tera.1093. Teratology. 2002. PMID: 11835227

4

A novel mutation in the FOXL2 gene in a patient with blepharophimosis syndrome: differential role of the polyalanine tract in the development of the ovary and the eyelid.

Kosaki K, Ogata T, Kosaki R, Sato S, Matsuo N. Kosaki K, et al. Among authors: kosaki r. Ophthalmic Genet. 2002 Mar;23(1):43-7. doi: 10.1076/opge.23.1.43.2202. Ophthalmic Genet. 2002. PMID: 11910558

5

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: kosaki r. J Clin Endocrinol Metab. 2002 Aug;87(8):3529-33. doi: 10.1210/jcem.87.8.8694. J Clin Endocrinol Metab. 2002. PMID: 12161469

6

Novel and recurrent mutations clustered in the von Willebrand factor A domain of MATN3 in multiple epiphyseal dysplasia.

Mabuchi A, Haga N, Maeda K, Nakashima E, Manabe N, Hiraoka H, Kitoh H, Kosaki R, Nishimura G, Ohashi H, Ikegawa S. Mabuchi A, et al. Among authors: kosaki r. Hum Mutat. 2004 Nov;24(5):439-40. doi: 10.1002/humu.9286. Hum Mutat. 2004. PMID: 15459972

7

Novel COL9A3 mutation in a family with multiple epiphyseal dysplasia.

Nakashima E, Kitoh H, Maeda K, Haga N, Kosaki R, Mabuchi A, Nishimura G, Ohashi H, Ikegawa S. Nakashima E, et al. Among authors: kosaki r. Am J Med Genet A. 2005 Jan 15;132A(2):181-4. doi: 10.1002/ajmg.a.30411. Am J Med Genet A. 2005. PMID: 15551337

8

Phenotypic spectrum of CHARGE syndrome with CHD7 mutations.

Aramaki M, Udaka T, Kosaki R, Makita Y, Okamoto N, Yoshihashi H, Oki H, Nanao K, Moriyama N, Oku S, Hasegawa T, Takahashi T, Fukushima Y, Kawame H, Kosaki K. Aramaki M, et al. Among authors: kosaki r, kosaki k. J Pediatr. 2006 Mar;148(3):410-4. doi: 10.1016/j.jpeds.2005.10.044. J Pediatr. 2006. PMID: 16615981

9

Comprehensive screening of multiple epiphyseal dysplasia mutations in Japanese population.

Itoh T, Shirahama S, Nakashima E, Maeda K, Haga N, Kitoh H, Kosaki R, Ohashi H, Nishimura G, Ikegawa S. Itoh T, et al. Among authors: kosaki r. Am J Med Genet A. 2006 Jun 15;140(12):1280-4. doi: 10.1002/ajmg.a.31292. Am J Med Genet A. 2006. PMID: 16691584

10

Screening for partial deletions in the CREBBP gene in Rubinstein-Taybi syndrome patients using multiplex PCR/liquid chromatography.

Udaka T, Kurosawa K, Izumi K, Yoshida S, Tsukahara M, Okamoto N, Torii C, Kosaki R, Masuno M, Hosokai N, Takahashi T, Kosaki K. Udaka T, et al. Among authors: kosaki r, kosaki k. Genet Test. 2006 Winter;10(4):265-71. doi: 10.1089/gte.2006.10.265. Genet Test. 2006. PMID: 17253932

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