Weksberg R - Search Results

1

Molecular characterization of 13 patients with PIK3CA-related overgrowth spectrum using a targeted deep sequencing approach.

de Kock L, Cuillerier A, Gillespie M, Couse M, Hartley T, Mears W, Bernier FP, Chudley AE, Frosk P, Nikkel SM, Innes AM, Lauzon J, Thomas M, Guerin A, Armour CM, Weksberg R, Scott JN, Watkins D, Harvey S, Cytrynbaum C; Care4Rare Canada Consortium; Kernohan KD, Boycott KM. de Kock L, et al. Among authors: weksberg r. Am J Med Genet A. 2024 Mar;194(3):e63466. doi: 10.1002/ajmg.a.63466. Epub 2023 Nov 10. Am J Med Genet A. 2024. PMID: 37949664

2

Molecular genetics of Wiedemann-Beckwith syndrome.

Li M, Squire JA, Weksberg R. Li M, et al. Among authors: weksberg r. Am J Med Genet. 1998 Oct 2;79(4):253-9. Am J Med Genet. 1998. PMID: 9781904 Review.

3

GPC3 mutation analysis in a spectrum of patients with overgrowth expands the phenotype of Simpson-Golabi-Behmel syndrome.

Li M, Shuman C, Fei YL, Cutiongco E, Bender HA, Stevens C, Wilkins-Haug L, Day-Salvatore D, Yong SL, Geraghty MT, Squire J, Weksberg R. Li M, et al. Among authors: weksberg r. Am J Med Genet. 2001 Aug 1;102(2):161-8. doi: 10.1002/1096-8628(20010801)102:2<161::aid-ajmg1453>3.0.co;2-o. Am J Med Genet. 2001. PMID: 11477610

4

Music skills and the expressive interpretation of music in children with Williams-Beuren syndrome: pitch, rhythm, melodic imagery, phrasing, and musical affect.

Hopyan T, Dennis M, Weksberg R, Cytrynbaum C. Hopyan T, et al. Among authors: weksberg r. Child Neuropsychol. 2001 Mar;7(1):42-53. doi: 10.1076/chin.7.1.42.3147. Child Neuropsychol. 2001. PMID: 11815880

5

The adult phenotype in Costello syndrome.

White SM, Graham JM Jr, Kerr B, Gripp K, Weksberg R, Cytrynbaum C, Reeder JL, Stewart FJ, Edwards M, Wilson M, Bankier A. White SM, et al. Among authors: weksberg r. Am J Med Genet A. 2005 Jul 15;136(2):128-35. doi: 10.1002/ajmg.a.30747. Am J Med Genet A. 2005. PMID: 15940703

6

Advances in overgrowth syndromes: clinical classification to molecular delineation in Sotos syndrome and Beckwith-Wiedemann syndrome.

Cytrynbaum CS, Smith AC, Rubin T, Weksberg R. Cytrynbaum CS, et al. Among authors: weksberg r. Curr Opin Pediatr. 2005 Dec;17(6):740-6. doi: 10.1097/01.mop.0000187191.74295.97. Curr Opin Pediatr. 2005. PMID: 16282780 Review.

7

Overgrowth with severe developmental delay following IVF/ICSI: A newly recognized syndrome?

Shah PS, Weksberg R, Chitayat D. Shah PS, et al. Among authors: weksberg r. Am J Med Genet A. 2006 Jun 15;140(12):1312-5. doi: 10.1002/ajmg.a.31274. Am J Med Genet A. 2006. PMID: 16691625

8

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: weksberg r. 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

9

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: weksberg r. 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

10

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: weksberg r. 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

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