Robinson WP - Search Results

1

Angelman syndrome due to paternal uniparental disomy of chromosome 15: a milder phenotype?

Bottani A, Robinson WP, DeLozier-Blanchet CD, Engel E, Morris MA, Schmitt B, Thun-Hohenstein L, Schinzel A. Bottani A, et al. Among authors: robinson wp. Am J Med Genet. 1994 May 15;51(1):35-40. doi: 10.1002/ajmg.1320510109. Am J Med Genet. 1994. PMID: 8030667

2

Small nuclear ribonucleoprotein polypeptide N (SNRPN), an expressed gene in the Prader-Willi syndrome critical region.

Ozçelik T, Leff S, Robinson W, Donlon T, Lalande M, Sanjines E, Schinzel A, Francke U. Ozçelik T, et al. Nat Genet. 1992 Dec;2(4):265-9. doi: 10.1038/ng1292-265. Nat Genet. 1992. PMID: 1303277

3

Reduced recombination and paternal age effect in Klinefelter syndrome.

Lorda-Sanchez I, Binkert F, Maechler M, Robinson WP, Schinzel AA. Lorda-Sanchez I, et al. Among authors: robinson wp. Hum Genet. 1992 Jul;89(5):524-30. doi: 10.1007/BF00219178. Hum Genet. 1992. PMID: 1353053

4

Molecular, cytogenetic, and clinical investigations of Prader-Willi syndrome patients.

Robinson WP, Bottani A, Xie YG, Balakrishman J, Binkert F, Mächler M, Prader A, Schinzel A. Robinson WP, et al. Am J Hum Genet. 1991 Dec;49(6):1219-34. Am J Hum Genet. 1991. PMID: 1684085 Free PMC article.

5

Prader-Willi or Angelman syndrome in familial 15q11----q13 deletion of maternal origin?

Schinzel A, Robinson WP, Bottani A, Yagang X, Prader A. Schinzel A, et al. Among authors: robinson wp. Hum Genet. 1992 Jan;88(3):361-2. doi: 10.1007/BF00197279. Hum Genet. 1992. PMID: 1733842 No abstract available.

6

Familial congenital laryngeal abductor paralysis: different expression in a family with one male and three females affected.

Schinzel A, Hof E, Dangel P, Robinson W. Schinzel A, et al. J Med Genet. 1990 Nov;27(11):715-6. doi: 10.1136/jmg.27.11.715. J Med Genet. 1990. PMID: 2277390 Free PMC article.

7

An interstitial deletion of proximal 8q (q11-q13) in a girl with Silver-Russell syndrome-like features.

Schinzel AA, Robinson WP, Binkert F, Fanconi A. Schinzel AA, et al. Among authors: robinson wp. Clin Dysmorphol. 1994 Jan;3(1):63-9. Clin Dysmorphol. 1994. PMID: 7515753

8

Phenotype of the Williams-Beuren syndrome associated with hemizygosity at the elastin locus.

Kotzot D, Bernasconi F, Brecevic L, Robinson WP, Kiss P, Kosztolanyi G, Lurie IW, Superti-Furga A, Schinzel A. Kotzot D, et al. Among authors: robinson wp. Eur J Pediatr. 1995 Jun;154(6):477-82. doi: 10.1007/BF02029360. Eur J Pediatr. 1995. PMID: 7545578

9

Molecular characterization of two proximal deletion breakpoint regions in both Prader-Willi and Angelman syndrome patients.

Christian SL, Robinson WP, Huang B, Mutirangura A, Line MR, Nakao M, Surti U, Chakravarti A, Ledbetter DH. Christian SL, et al. Among authors: robinson wp. Am J Hum Genet. 1995 Jul;57(1):40-8. Am J Hum Genet. 1995. PMID: 7611294 Free PMC article.

10

Uniparental disomy 7 in Silver-Russell syndrome and primordial growth retardation.

Kotzot D, Schmitt S, Bernasconi F, Robinson WP, Lurie IW, Ilyina H, Méhes K, Hamel BC, Otten BJ, Hergersberg M, et al. Kotzot D, et al. Among authors: robinson wp. Hum Mol Genet. 1995 Apr;4(4):583-7. doi: 10.1093/hmg/4.4.583. Hum Mol Genet. 1995. PMID: 7633407 Free article.

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