Nishimura G - Search Results

1

Joint laxity, vitreoretinal degeneration, facial abnormalities, and generalized skeletal alterations: a new syndrome?

Nishimura G, Hasegawa T, Sugii K, Tsuyama K, Matsuo N. Nishimura G, et al. J Hum Genet. 1998;43(3):191-4. doi: 10.1007/s100380050068. J Hum Genet. 1998. PMID: 9747034

2

Ischial hypoplasia, tibial hypoplasia and facial abnormalities: a new syndrome?

Nishimura G, Haga Y, Aoki K, Hasegawa T. Nishimura G, et al. Pediatr Radiol. 1998 Dec;28(12):975-7. doi: 10.1007/s002470050512. Pediatr Radiol. 1998. PMID: 9880644

3

Mutation of the type X collagen gene (COL10A1) causes spondylometaphyseal dysplasia.

Ikegawa S, Nishimura G, Nagai T, Hasegawa T, Ohashi H, Nakamura Y. Ikegawa S, et al. Among authors: nishimura g. Am J Hum Genet. 1998 Dec;63(6):1659-62. doi: 10.1086/302158. Am J Hum Genet. 1998. PMID: 9837818 Free PMC article.

4

Oto-palato-digital syndrome, type II: evidence for defective intramembranous ossification.

Ogata T, Matsuo N, Nishimura G, Hajikano H. Ogata T, et al. Among authors: nishimura g. Am J Med Genet. 1990 Jun;36(2):226-31. doi: 10.1002/ajmg.1320360217. Am J Med Genet. 1990. PMID: 2114799

5

A case of skeletal dysplasia with advanced carpal ossification and "monkey wrench" appearance of the femora: mild Desbuquois dysplasia?

Nishimura G, Sato S, Ogata T, Tamai S, Hasegawa T, Matsuo N. Nishimura G, et al. Eur J Pediatr. 1996 Dec;155(12):1040-2. doi: 10.1007/BF02532527. Eur J Pediatr. 1996. PMID: 8956941

6

A case of craniofacial dysmorphism, congenital heart defects, coccygeal skin folds, generalized skeletal alterations, and hemihypertrophy with linear skin hypopigmentation: a new syndrome?

Nishimura G, Nagai T. Nishimura G, et al. J Hum Genet. 1998;43(1):65-8. doi: 10.1007/s100380050040. J Hum Genet. 1998. PMID: 9610002

7

Broad proximal phalanx, facial anomalies, hallux valgus, and bronchomalacia: additional case.

Tanaka Y, Matsuo N, Nishimura G, Nagai T. Tanaka Y, et al. Among authors: nishimura g. Am J Med Genet. 1994 Apr 1;50(2):211-2. doi: 10.1002/ajmg.1320500214. Am J Med Genet. 1994. PMID: 8068091 No abstract available.

8

Propositus with Weaver syndrome and his mildly-affected mother: implication of nontraditional inheritance?

Nishimura G, Hasegawa T, Nagai T. Nishimura G, et al. Am J Med Genet. 1996 Oct 28;65(3):249-51. doi: 10.1002/ajmg.1320650403. Am J Med Genet. 1996. PMID: 9240753 No abstract available.

9

SHOX haploinsufficiency and overdosage: impact of gonadal function status.

Ogata T, Matsuo N, Nishimura G. Ogata T, et al. Among authors: nishimura g. J Med Genet. 2001 Jan;38(1):1-6. doi: 10.1136/jmg.38.1.1. J Med Genet. 2001. PMID: 11134233 Free PMC article. Review.

10

Syringohydromyelia in Hajdu-Cheney syndrome.

Nishimura G, Aoki K, Haga N, Hasegawa T. Nishimura G, et al. Pediatr Radiol. 1996;26(1):59-61. doi: 10.1007/BF01403708. Pediatr Radiol. 1996. PMID: 8598999

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