Robinson WP - Search Results

1

Cho RY, Peñaherrera MS, Du Souich C, Huang L, Mwenifumbo J, Nelson TN, Elliott AM, Adam S; CAUSES Study; Eydoux P, Yang GX, Chijiwa C, Van Allen MI, Friedman JM, Robinson WP, Lehman A. Cho RY, et al. Among authors: robinson wp. Am J Med Genet A. 2020 Mar;182(3):498-503. doi: 10.1002/ajmg.a.61451. Epub 2019 Dec 16. Am J Med Genet A. 2020. PMID: 31840929

2

Intrachromosomal triplication of 15q11-q13.

Schinzel AA, Brecevic L, Bernasconi F, Binkert F, Berthet F, Wuilloud A, Robinson WP. Schinzel AA, et al. Among authors: robinson wp. J Med Genet. 1994 Oct;31(10):798-803. doi: 10.1136/jmg.31.10.798. J Med Genet. 1994. PMID: 7837257 Free PMC article.

3

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

4

Molecular studies of translocations and trisomy involving chromosome 13.

Robinson WP, Bernasconi F, Dutly F, Lefort G, Romain DR, Binkert F, Schinzel AA. Robinson WP, et al. Am J Med Genet. 1996 Jan 11;61(2):158-63. doi: 10.1002/(SICI)1096-8628(19960111)61:2<158::AID-AJMG11>3.0.CO;2-T. Am J Med Genet. 1996. PMID: 8669444

5

Comparison of phenotype in uniparental disomy and deletion Prader-Willi syndrome: sex specific differences.

Mitchell J, Schinzel A, Langlois S, Gillessen-Kaesbach G, Schuffenhauer S, Michaelis R, Abeliovich D, Lerer I, Christian S, Guitart M, McFadden DE, Robinson WP. Mitchell J, et al. Among authors: robinson wp. Am J Med Genet. 1996 Oct 16;65(2):133-6. doi: 10.1002/(SICI)1096-8628(19961016)65:2<133::AID-AJMG10>3.0.CO;2-R. Am J Med Genet. 1996. PMID: 8911605

6

Trisomy 7 CVS mosaicism: pregnancy outcome, placental and DNA analysis in 14 cases.

Kalousek DK, Langlois S, Robinson WP, Telenius A, Bernard L, Barrett IJ, Howard-Peebles PN, Wilson RD. Kalousek DK, et al. Among authors: robinson wp. Am J Med Genet. 1996 Nov 11;65(4):348-52. doi: 10.1002/(SICI)1096-8628(19961111)65:4<348::AID-AJMG19>3.0.CO;2-U. Am J Med Genet. 1996. PMID: 8923948

7

Novel case of del(17)(q23.1q23.3) further highlights a recognizable phenotype involving deletions of chromosome (17)(q21q24).

Mickelson EC, Robinson WP, Hrynchak MA, Lewis ME. Mickelson EC, et al. Among authors: robinson wp. Am J Med Genet. 1997 Aug 22;71(3):275-9. doi: 10.1002/(sici)1096-8628(19970822)71:3<275::aid-ajmg5>3.0.co;2-t. Am J Med Genet. 1997. PMID: 9268095 Review.

8

Skewed X-chromosome inactivation is common in fetuses or newborns associated with confined placental mosaicism.

Lau AW, Brown CJ, Peñaherrera M, Langlois S, Kalousek DK, Robinson WP. Lau AW, et al. Among authors: robinson wp. Am J Hum Genet. 1997 Dec;61(6):1353-61. doi: 10.1086/301651. Am J Hum Genet. 1997. PMID: 9399909 Free PMC article.

9

The mechanisms involved in formation of deletions and duplications of 15q11-q13.

Robinson WP, Dutly F, Nicholls RD, Bernasconi F, Peñaherrera M, Michaelis RC, Abeliovich D, Schinzel AA. Robinson WP, et al. J Med Genet. 1998 Feb;35(2):130-6. doi: 10.1136/jmg.35.2.130. J Med Genet. 1998. PMID: 9580159 Free PMC article.

10

Partial tetrasomy with triplication of chromosome (5) (p14-p15.33) in a patient with severe multiple congenital anomalies.

Harrison KJ, Teshima IE, Silver MM, Jay V, Unger S, Robinson WP, James A, Levin A, Chitayat D. Harrison KJ, et al. Among authors: robinson wp. Am J Med Genet. 1998 Sep 1;79(2):103-7. Am J Med Genet. 1998. PMID: 9741467

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