Kosaki K - Search Results

1

Zimmer phocomelia: delineation by principal coordinate analysis.

Kosaki K, Jones MC, Stayboldt C. Kosaki K, et al. Am J Med Genet. 1996 Dec 2;66(1):55-9. doi: 10.1002/(SICI)1096-8628(19961202)66:1<55::AID-AJMG12>3.0.CO;2-P. Am J Med Genet. 1996. PMID: 8957512

2

Holoprosencephaly in RSH/Smith-Lemli-Opitz syndrome: does abnormal cholesterol metabolism affect the function of Sonic Hedgehog?

Kelley RL, Roessler E, Hennekam RC, Feldman GL, Kosaki K, Jones MC, Palumbos JC, Muenke M. Kelley RL, et al. Among authors: kosaki k. Am J Med Genet. 1996 Dec 30;66(4):478-84. doi: 10.1002/(SICI)1096-8628(19961230)66:4<478::AID-AJMG22>3.0.CO;2-Q. Am J Med Genet. 1996. PMID: 8989473

3

Ritscher-Schinzel (3C) syndrome: documentation of the phenotype.

Kosaki K, Curry CJ, Roeder E, Jones KL. Kosaki K, et al. Am J Med Genet. 1997 Feb 11;68(4):421-7. doi: 10.1002/(sici)1096-8628(19970211)68:4<421::aid-ajmg10>3.0.co;2-u. Am J Med Genet. 1997. PMID: 9021015 Review.

4

Prader-Willi and Angelman syndromes: diagnosis with a bisulfite-treated methylation-specific PCR method.

Kosaki K, McGinniss MJ, Veraksa AN, McGinnis WJ, Jones KL. Kosaki K, et al. Am J Med Genet. 1997 Dec 19;73(3):308-13. Am J Med Genet. 1997. PMID: 9415690

5

Random X-inactivation in a girl with duplication Xp11.21-p21.3: report of a patient and review of the literature.

Matsuo M, Muroya K, Kosaki K, Ishii T, Fukushima Y, Anzo M, Ogata T. Matsuo M, et al. Among authors: kosaki k. Am J Med Genet. 1999 Sep 3;86(1):44-50. Am J Med Genet. 1999. PMID: 10440827 Review.

6

Mother and daughter with 45,X/46,X,r(X)(p22.3q28) and mental retardation: analysis of the X-inactivation patterns.

Matsuo M, Muroya K, Nanao K, Hasegawa Y, Terasaki H, Kosaki K, Ogata T. Matsuo M, et al. Among authors: kosaki k. Am J Med Genet. 2000 Apr 10;91(4):267-72. Am J Med Genet. 2000. PMID: 10766981 Review.

7

X-linked cubitus valgus with mental retardation and typical face.

Jones KL, Kosaki K, Hall BD. Jones KL, et al. Among authors: kosaki k. Am J Med Genet A. 2003 Nov 15;123A(1):33-6. doi: 10.1002/ajmg.a.20494. Am J Med Genet A. 2003. PMID: 14556244

8

Marfanoid habitus with abnormal situs.

Kosaki K, Bird LM, Maeda J, Higuchi M, Jones MC, Matsumoto M. Kosaki K, et al. Am J Med Genet A. 2004 Jun 15;127A(3):310-2. doi: 10.1002/ajmg.a.30022. Am J Med Genet A. 2004. PMID: 15150786

9

Absent inner dynein arms in a fetus with familial hydrocephalus-situs abnormality.

Kosaki K, Ikeda K, Miyakoshi K, Ueno M, Kosaki R, Takahashi D, Tanaka M, Torikata C, Yoshimura Y, Takahashi T. Kosaki K, et al. Among authors: kosaki r. Am J Med Genet A. 2004 Sep 1;129A(3):308-11. doi: 10.1002/ajmg.a.30177. Am J Med Genet A. 2004. PMID: 15326634

10

Congenital hypothyroidism in Peters plus syndrome.

Kosaki R, Kamiishi A, Sugiyama R, Kawai M, Hasegawa T, Kosaki K. Kosaki R, et al. Among authors: kosaki k. Ophthalmic Genet. 2006 Jun;27(2):67-9. doi: 10.1080/13816810600678170. Ophthalmic Genet. 2006. PMID: 16754209

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