Ray PN - Search Results

1

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. Among authors: ray pn. 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

2

Renal abnormalities in beckwith-wiedemann syndrome are associated with 11p15.5 uniparental disomy.

Goldman M, Smith A, Shuman C, Caluseriu O, Wei C, Steele L, Ray P, Sadowski P, Squire J, Weksberg R, Rosenblum ND. Goldman M, et al. J Am Soc Nephrol. 2002 Aug;13(8):2077-84. doi: 10.1097/01.asn.0000023431.16173.55. J Am Soc Nephrol. 2002. PMID: 12138139

3

Wilms tumour in Beckwith-Wiedemann Syndrome and loss of methylation at imprinting centre 2: revisiting tumour surveillance guidelines.

Brzezinski J, Shuman C, Choufani S, Ray P, Stavropoulos DJ, Basran R, Steele L, Parkinson N, Grant R, Thorner P, Lorenzo A, Weksberg R. Brzezinski J, et al. Eur J Hum Genet. 2017 Sep;25(9):1031-1039. doi: 10.1038/ejhg.2017.102. Epub 2017 Jul 12. Eur J Hum Genet. 2017. PMID: 28699632 Free PMC article.

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. Among authors: ray pn. 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. Among authors: ray pn. 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

Screening of patients with craniosynostosis: molecular strategy.

Chun K, Teebi AS, Azimi C, Steele L, Ray PN. Chun K, et al. Among authors: ray pn. Am J Med Genet A. 2003 Aug 1;120A(4):470-3. doi: 10.1002/ajmg.a.20258. Am J Med Genet A. 2003. PMID: 12884424

8

Whole genome scanning: resolving clinical diagnosis and management amidst complex data.

Ali-Khan SE, Daar AS, Shuman C, Ray PN, Scherer SW. Ali-Khan SE, et al. Among authors: ray pn. Pediatr Res. 2009 Oct;66(4):357-63. doi: 10.1203/PDR.0b013e3181b0cbd8. Pediatr Res. 2009. PMID: 19531980 Review.

9

Brain abnormalities in patients with Beckwith-Wiedemann syndrome.

Gardiner K, Chitayat D, Choufani S, Shuman C, Blaser S, Terespolsky D, Farrell S, Reiss R, Wodak S, Pu S, Ray PN, Baskin B, Weksberg R. Gardiner K, et al. Among authors: ray pn. Am J Med Genet A. 2012 Jun;158A(6):1388-94. doi: 10.1002/ajmg.a.35358. Epub 2012 May 14. Am J Med Genet A. 2012. PMID: 22585446

10

High frequency of copy number variations (CNVs) in the chromosome 11p15 region in patients with Beckwith-Wiedemann syndrome.

Baskin B, Choufani S, Chen YA, Shuman C, Parkinson N, Lemyre E, Micheil Innes A, Stavropoulos DJ, Ray PN, Weksberg R. Baskin B, et al. Among authors: ray pn. Hum Genet. 2014 Mar;133(3):321-30. doi: 10.1007/s00439-013-1379-z. Epub 2013 Oct 24. Hum Genet. 2014. PMID: 24154661

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