Robinson WP - Search Results

1

An association between skewed X-chromosome inactivation and abnormal outcome in mosaic trisomy 16 confined predominantly to the placenta.

Peñaherrera MS, Barrett IJ, Brown CJ, Langlois S, Yong SL, Lewis S, Bruyère H, Howard-Peebles PN, Kalousek DK, Robinson WP. Peñaherrera MS, et al. Among authors: robinson wp. Clin Genet. 2000 Dec;58(6):436-46. doi: 10.1034/j.1399-0004.2000.580603.x. Clin Genet. 2000. PMID: 11149612

2

Increased parental ages and uniparental disomy 15: a paternal age effect?

Robinson WP, Lorda-Sanchez I, Malcolm S, Langlois S, Schuffenhauer S, Knoblauch H, Horsthemke B, Schinzel AA. Robinson WP, et al. Eur J Hum Genet. 1993;1(4):280-6. doi: 10.1159/000472425. Eur J Hum Genet. 1993. PMID: 8081941

3

Parental origin of the supernumerary chromosome in trisomy 18.

Ya-gang X, Robinson WP, Spiegel R, Binkert F, Ruefenacht U, Schinzel AA. Ya-gang X, et al. Among authors: robinson wp. Clin Genet. 1993 Aug;44(2):57-61. doi: 10.1111/j.1399-0004.1993.tb03847.x. Clin Genet. 1993. PMID: 8275560

4

Nondisjunction of chromosome 15: origin and recombination.

Robinson WP, Bernasconi F, Mutirangura A, Ledbetter DH, Langlois S, Malcolm S, Morris MA, Schinzel AA. Robinson WP, et al. Am J Hum Genet. 1993 Sep;53(3):740-51. Am J Hum Genet. 1993. PMID: 8352279 Free PMC article.

5

Uniparental disomy explains the occurrence of the Angelman or Prader-Willi syndrome in patients with an additional small inv dup(15) chromosome.

Robinson WP, Wagstaff J, Bernasconi F, Baccichetti C, Artifoni L, Franzoni E, Suslak L, Shih LY, Aviv H, Schinzel AA. Robinson WP, et al. J Med Genet. 1993 Sep;30(9):756-60. doi: 10.1136/jmg.30.9.756. J Med Genet. 1993. PMID: 8411071 Free PMC article.

6

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

7

Complete paternal isodisomy for chromosome 8 unmasked by lipoprotein lipase deficiency.

Benlian P, Foubert L, Gagné E, Bernard L, De Gennes JL, Langlois S, Robinson W, Hayden M. Benlian P, et al. Am J Hum Genet. 1996 Aug;59(2):431-6. Am J Hum Genet. 1996. PMID: 8755931 Free PMC article.

8

Mosaicism most likely accounts for extended survival of trisomy 22.

Robinson WP, Kalousek DK. Robinson WP, et al. Am J Med Genet. 1996 Mar 1;62(1):100-1. doi: 10.1002/(SICI)1096-8628(19960301)62:1<100::AID-AJMG21>3.0.CO;2-V. Am J Med Genet. 1996. PMID: 8779317 No abstract available.

9

Kallmann syndrome in a boy with a t(1;10) translocation detected by reverse chromosome painting.

Schinzel A, Lorda-Sanchez I, Binkert F, Carter NP, Bebb CE, Ferguson-Smith MA, Eiholzer U, Zachmann M, Robinson WP. Schinzel A, et al. Among authors: robinson wp. J Med Genet. 1995 Dec;32(12):957-61. doi: 10.1136/jmg.32.12.957. J Med Genet. 1995. PMID: 8825924 Free PMC article.

10

Cytogenetic and age-dependent risk factors associated with uniparental disomy 15.

Robinson WP, Langlois S, Schuffenhauer S, Horsthemke B, Michaelis RC, Christian S, Ledbetter DH, Schinzel A. Robinson WP, et al. Prenat Diagn. 1996 Sep;16(9):837-44. doi: 10.1002/(SICI)1097-0223(199609)16:9<837::AID-PD956>3.0.CO;2-7. Prenat Diagn. 1996. PMID: 8905898

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