Ray P - Search Results

1

FISH detection of chromosome 15 deletions in Prader-Willi and Angelman syndromes.

Teshima I, Chadwick D, Chitayat D, Kobayashi J, Ray P, Shuman C, Siegel-Bartelt J, Strasberg P, Weksberg R. Teshima I, et al. Among authors: ray p. Am J Med Genet. 1996 Mar 29;62(3):217-23. doi: 10.1002/(sici)1096-8628(19960329)62:3<216::aid-ajmg3>3.3.co;2-0. Am J Med Genet. 1996. PMID: 8882776

2

FGFR2 mutation associated with clinical manifestations consistent with Antley-Bixler syndrome.

Chun K, Siegel-Bartelt J, Chitayat D, Phillips J, Ray PN. Chun K, et al. Among authors: ray pn. Am J Med Genet. 1998 May 18;77(3):219-24. doi: 10.1002/(sici)1096-8628(19980518)77:3<219::aid-ajmg6>3.0.co;2-k. Am J Med Genet. 1998. PMID: 9605588

3

Genetic analysis of patients with the Saethre-Chotzen phenotype.

Chun K, Teebi AS, Jung JH, Kennedy S, Laframboise R, Meschino WS, Nakabayashi K, Scherer SW, Ray PN, Teshima I. Chun K, et al. Am J Med Genet. 2002 Jun 15;110(2):136-43. doi: 10.1002/ajmg.10400. Am J Med Genet. 2002. PMID: 12116251

4

Constitutional UPD for chromosome 11p15 in individuals with isolated hemihyperplasia is associated with high tumor risk and occurs following assisted reproductive technologies.

Shuman C, Smith AC, Steele L, Ray PN, Clericuzio C, Zackai E, Parisi MA, Meadows AT, Kelly T, Tichauer D, Squire JA, Sadowski P, Weksberg R. Shuman C, et al. Among authors: ray pn. Am J Med Genet A. 2006 Jul 15;140(14):1497-503. doi: 10.1002/ajmg.a.31323. Am J Med Genet A. 2006. PMID: 16770802

5

Severe presentation of Beckwith-Wiedemann syndrome associated with high levels of constitutional paternal uniparental disomy for chromosome 11p15.

Smith AC, Shuman C, Chitayat D, Steele L, Ray PN, Bourgeois J, Weksberg R. Smith AC, et al. Am J Med Genet A. 2007 Dec 15;143A(24):3010-5. doi: 10.1002/ajmg.a.32030. Am J Med Genet A. 2007. PMID: 18000906

6

Molecular diagnosis of 22q11.2 deletion and duplication by multiplex ligation dependent probe amplification.

Stachon AC, Baskin B, Smith AC, Shugar A, Cytrynbaum C, Fishman L, Mendoza-Londono R, Klatt R, Teebi A, Ray PN, Weksberg R. Stachon AC, et al. Am J Med Genet A. 2007 Dec 15;143A(24):2924-30. doi: 10.1002/ajmg.a.32101. Am J Med Genet A. 2007. PMID: 18000985

7

Mosaicism for genome-wide paternal uniparental disomy with features of multiple imprinting disorders: diagnostic and management issues.

Inbar-Feigenberg M, Choufani S, Cytrynbaum C, Chen YA, Steele L, Shuman C, Ray PN, Weksberg R. Inbar-Feigenberg M, et al. Am J Med Genet A. 2013 Jan;161A(1):13-20. doi: 10.1002/ajmg.a.35651. Epub 2012 Dec 13. Am J Med Genet A. 2013. PMID: 23239666

8

Tissue-specific methylation differences and cognitive function in fragile X premutation females.

Allingham-Hawkins DJ, Brown CA, Babul R, Chitayat D, Krekewich K, Humphries T, Ray PN, Teshima IE. Allingham-Hawkins DJ, et al. Among authors: ray pn. Am J Med Genet. 1996 Aug 9;64(2):329-33. doi: 10.1002/(SICI)1096-8628(19960809)64:2<329::AID-AJMG19>3.0.CO;2-H. Am J Med Genet. 1996. PMID: 8844075

9

X linked spondyloepiphyseal dysplasia: a clinical, radiological, and molecular study of a large kindred.

MacKenzie JJ, Fitzpatrick J, Babyn P, Ferrero GB, Ballabio A, Billingsley G, Bulman DE, Strasberg P, Ray PN, Costa T. MacKenzie JJ, et al. Among authors: ray pn. J Med Genet. 1996 Oct;33(10):823-8. doi: 10.1136/jmg.33.10.823. J Med Genet. 1996. PMID: 8933334 Free PMC article.

10

Monozygotic twins with 45,X/46,XY mosaicism discordant for phenotypic sex.

Costa T, Lambert M, Teshima I, Ray PN, Richer CL, Dallaire L. Costa T, et al. Among authors: ray pn. Am J Med Genet. 1998 Jan 6;75(1):40-4. Am J Med Genet. 1998. PMID: 9450855 Review.

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 NCBI Filters

Text availability

Article attribute

Article type

Publication date

2,715 results

Search Page