Robinson WP - Search Results

1

Beckwith-Wiedemann syndrome in sibs discordant for IC2 methylation.

Niederhoffer KY, Peñaherrera M, Pugash D, Rupps R, Arbour L, Tessier F, Choufani S, Zhao C, Manokhina I, Shuman C, Robinson WP, Weksberg R, Boerkoel CF. Niederhoffer KY, et al. Among authors: robinson wp. Am J Med Genet A. 2012 Jul;158A(7):1662-9. doi: 10.1002/ajmg.a.35377. Epub 2012 May 21. Am J Med Genet A. 2012. PMID: 22615066

2

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

3

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

4

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

5

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.

6

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.

7

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.

8

Frequency of meiotic trisomy depends on involved chromosome and mode of ascertainment.

Robinson WP, Bernasconi F, Lau A, McFadden DE. Robinson WP, et al. Am J Med Genet. 1999 May 7;84(1):34-42. Am J Med Genet. 1999. PMID: 10213044

9

Molecular and clinical correlation study of Williams-Beuren syndrome: No evidence of molecular factors in the deletion region or imprinting affecting clinical outcome.

Wang MS, Schinzel A, Kotzot D, Balmer D, Casey R, Chodirker BN, Gyftodimou J, Petersen MB, Lopez-Rangel E, Robinson WP. Wang MS, et al. Among authors: robinson wp. Am J Med Genet. 1999 Sep 3;86(1):34-43. Am J Med Genet. 1999. PMID: 10440826

10

Clinical and molecular findings in two patients with russell-silver syndrome and UPD7: comparison with non-UPD7 cases.

Bernard LE, Peñaherrera MS, Van Allen MI, Wang MS, Yong SL, Gareis F, Langlois S, Robinson WP. Bernard LE, et al. Among authors: robinson wp. Am J Med Genet. 1999 Nov 26;87(3):230-6. Am J Med Genet. 1999. PMID: 10564876

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