Robinson WP - Search Results

1

Pseudohypoparathyroidism type 1a and the GNAS p.R231H mutation: Somatic mosaicism in a mother with two affected sons.

Ngai YF, Chijiwa C, Mercimek-Mahmutoglu S, Stewart L, Yong SL, Robinson WP, Gibson WT. Ngai YF, et al. Among authors: robinson wp. Am J Med Genet A. 2010 Nov;152A(11):2784-90. doi: 10.1002/ajmg.a.33172. Am J Med Genet A. 2010. PMID: 20979189

2

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

3

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

4

Recurrent trisomy 21 in a couple with a child presenting trisomy 21 mosaicism and maternal uniparental disomy for chromosome 21 in the euploid cell line.

Bruyère H, Rupps R, Kuchinka BD, Friedman JM, Robinson WP. Bruyère H, et al. Among authors: robinson wp. Am J Med Genet. 2000 Sep 4;94(1):35-41. doi: 10.1002/1096-8628(20000904)94:1<35::aid-ajmg8>3.0.co;2-9. Am J Med Genet. 2000. PMID: 10982480

5

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

6

Two cases of confined placental mosaicism for chromosome 4, including one with maternal uniparental disomy.

Kuchinka BD, Barrett IJ, Moya G, Sánchez JM, Langlois S, Yong SL, Kalousek DK, Robinson WP. Kuchinka BD, et al. Among authors: robinson wp. Prenat Diagn. 2001 Jan;21(1):36-9. doi: 10.1002/1097-0223(200101)21:1<36::aid-pd979>3.0.co;2-1. Prenat Diagn. 2001. PMID: 11180238

7

Grandmaternal origin of an isochromosome 18p present in two maternal half-sisters.

Boyle J, Sangha K, Dill F, Robinson WP, Yong SL. Boyle J, et al. Among authors: robinson wp. Am J Med Genet. 2001 Jun 1;101(1):65-9. doi: 10.1002/ajmg.1295. Am J Med Genet. 2001. PMID: 11343341

8

Clinical aspects, prenatal diagnosis, and pathogenesis of trisomy 16 mosaicism.

Yong PJ, Barrett IJ, Kalousek DK, Robinson WP. Yong PJ, et al. Among authors: robinson wp. J Med Genet. 2003 Mar;40(3):175-82. doi: 10.1136/jmg.40.3.175. J Med Genet. 2003. PMID: 12624135 Free PMC article.

9

Methylation profiling in individuals with Russell-Silver syndrome.

Peñaherrera MS, Weindler S, Van Allen MI, Yong SL, Metzger DL, McGillivray B, Boerkoel C, Langlois S, Robinson WP. Peñaherrera MS, et al. Among authors: robinson wp. Am J Med Genet A. 2010 Feb;152A(2):347-55. doi: 10.1002/ajmg.a.33204. Am J Med Genet A. 2010. PMID: 20082469

10

Whole exome sequencing of families with 1q21.1 microdeletion or microduplication.

Qiao Y, Badduke C, Tang F, Cowieson D, Martell S, Lewis SME, Peñaherrera MS, Robinson WP, Volchuk A, Rajcan-Separovic E. Qiao Y, et al. Among authors: robinson wp. Am J Med Genet A. 2017 Jul;173(7):1782-1791. doi: 10.1002/ajmg.a.38247. Epub 2017 May 5. Am J Med Genet A. 2017. PMID: 28475290

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

301 results

Search Page

Filters