Weksberg R - Search Results

1

Beckwith-Wiedemann syndrome in sibs discordant for IC2 methylation.

Niederhoffer KY, Peñaherrera M, Pugash D, Rupps R, Arbour L, Tessier F, Choufani S, Zhao C, Manokhina I, Shuman C, Robinson WP, Weksberg R, Boerkoel CF. Niederhoffer KY, et al. Among authors: weksberg r. Am J Med Genet A. 2012 Jul;158A(7):1662-9. doi: 10.1002/ajmg.a.35377. Epub 2012 May 21. Am J Med Genet A. 2012. PMID: 22615066

2

Molecular characterization of Beckwith-Wiedemann syndrome (BWS) patients with partial duplication of chromosome 11p excludes the gene MYOD1 from the BWS region.

Weksberg R, Glaves M, Teshima I, Waziri M, Patil S, Williams BR. Weksberg R, et al. Genomics. 1990 Dec;8(4):693-8. doi: 10.1016/0888-7543(90)90256-t. Genomics. 1990. PMID: 2276740

3

Wiedemann-Beckwith syndrome: genomic imprinting revisited.

Weksberg R. Weksberg R. Am J Med Genet. 1994 Aug 15;52(2):235-6. doi: 10.1002/ajmg.1320520223. Am J Med Genet. 1994. PMID: 7802017 No abstract available.

4

Disruption of insulin-like growth factor 2 imprinting in Beckwith-Wiedemann syndrome.

Weksberg R, Shen DR, Fei YL, Song QL, Squire J. Weksberg R, et al. Nat Genet. 1993 Oct;5(2):143-50. doi: 10.1038/ng1093-143. Nat Genet. 1993. PMID: 8252039

5

Molecular characterization of cytogenetic alterations associated with the Beckwith-Wiedemann syndrome (BWS) phenotype refines the localization and suggests the gene for BWS is imprinted.

Weksberg R, Teshima I, Williams BR, Greenberg CR, Pueschel SM, Chernos JE, Fowlow SB, Hoyme E, Anderson IJ, Whiteman DA, et al. Weksberg R, et al. Hum Mol Genet. 1993 May;2(5):549-56. doi: 10.1093/hmg/2.5.549. Hum Mol Genet. 1993. PMID: 8518793

6

Linkage analysis of two Canadian families segregating for X linked spondyloepiphyseal dysplasia.

Bernard LE, Chitayat D, Weksberg R, Van Allen MI, Langlois S. Bernard LE, et al. Among authors: weksberg r. J Med Genet. 1996 May;33(5):432-4. doi: 10.1136/jmg.33.5.432. J Med Genet. 1996. PMID: 8733060 Free PMC article.

7

Molecular biology of Beckwith-Wiedemann syndrome.

Weksberg R, Squire JA. Weksberg R, et al. Med Pediatr Oncol. 1996 Nov;27(5):462-9. doi: 10.1002/(SICI)1096-911X(199611)27:5<462::AID-MPO13>3.0.CO;2-C. Med Pediatr Oncol. 1996. PMID: 8827075 Review.

8

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: weksberg r. 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

9

Molecular genetics of Beckwith-Wiedemann syndrome.

Li M, Squire JA, Weksberg R. Li M, et al. Among authors: weksberg r. Curr Opin Pediatr. 1997 Dec;9(6):623-9. doi: 10.1097/00008480-199712000-00012. Curr Opin Pediatr. 1997. PMID: 9425596 Review.

10

Overgrowth syndromes and genomic imprinting: from mouse to man.

Li M, Squire JA, Weksberg R. Li M, et al. Among authors: weksberg r. Clin Genet. 1998 Mar;53(3):165-70. Clin Genet. 1998. PMID: 9630066 Review.

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