Weksberg R - Search Results

1

DNA Methylation Signature for EZH2 Functionally Classifies Sequence Variants in Three PRC2 Complex Genes.

Choufani S, Gibson WT, Turinsky AL, Chung BHY, Wang T, Garg K, Vitriolo A, Cohen ASA, Cyrus S, Goodman S, Chater-Diehl E, Brzezinski J, Brudno M, Ming LH, White SM, Lynch SA, Clericuzio C, Temple IK, Flinter F, McConnell V, Cushing T, Bird LM, Splitt M, Kerr B, Scherer SW, Machado J, Imagawa E, Okamoto N, Matsumoto N, Testa G, Iascone M, Tenconi R, Caluseriu O, Mendoza-Londono R, Chitayat D, Cytrynbaum C, Tatton-Brown K, Weksberg R. Choufani S, et al. Among authors: weksberg r. Am J Hum Genet. 2020 May 7;106(5):596-610. doi: 10.1016/j.ajhg.2020.03.008. Epub 2020 Apr 2. Am J Hum Genet. 2020. PMID: 32243864 Free PMC article.

2

Infantile lethal variant of Simpson-Golabi-Behmel syndrome associated with hydrops fetalis.

Terespolsky D, Farrell SA, Siegel-Bartelt J, Weksberg R. Terespolsky D, et al. Among authors: weksberg r. Am J Med Genet. 1995 Nov 20;59(3):329-33. doi: 10.1002/ajmg.1320590310. Am J Med Genet. 1995. PMID: 8599356

3

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.

4

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

5

Phenotype of adults with the 22q11 deletion syndrome: A review.

Cohen E, Chow EW, Weksberg R, Bassett AS. Cohen E, et al. Among authors: weksberg r. Am J Med Genet. 1999 Oct 8;86(4):359-65. doi: 10.1002/(sici)1096-8628(19991008)86:4<359::aid-ajmg10>3.0.co;2-v. Am J Med Genet. 1999. PMID: 10494092 Free PMC article. Review.

6

Tumor development in the Beckwith-Wiedemann syndrome is associated with a variety of constitutional molecular 11p15 alterations including imprinting defects of KCNQ1OT1.

Weksberg R, Nishikawa J, Caluseriu O, Fei YL, Shuman C, Wei C, Steele L, Cameron J, Smith A, Ambus I, Li M, Ray PN, Sadowski P, Squire J. Weksberg R, et al. Hum Mol Genet. 2001 Dec 15;10(26):2989-3000. doi: 10.1093/hmg/10.26.2989. Hum Mol Genet. 2001. PMID: 11751681

7

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

8

Association of alveolar rhabdomyosarcoma with the Beckwith-Wiedemann syndrome.

Smith AC, Squire JA, Thorner P, Zielenska M, Shuman C, Grant R, Chitayat D, Nishikawa JL, Weksberg R. Smith AC, et al. Among authors: weksberg r. Pediatr Dev Pathol. 2001 Nov-Dec;4(6):550-8. doi: 10.1007/s10024001-0110-6. Pediatr Dev Pathol. 2001. PMID: 11826361

9

Molecular genetic studies of human chromosome 7 in Russell-Silver syndrome.

Nakabayashi K, Fernandez BA, Teshima I, Shuman C, Proud VK, Curry CJ, Chitayat D, Grebe T, Ming J, Oshimura M, Meguro M, Mitsuya K, Deb-Rinker P, Herbrick JA, Weksberg R, Scherer SW. Nakabayashi K, et al. Among authors: weksberg r. Genomics. 2002 Feb;79(2):186-96. doi: 10.1006/geno.2002.6695. Genomics. 2002. PMID: 11829489

10

Discordant KCNQ1OT1 imprinting in sets of monozygotic twins discordant for Beckwith-Wiedemann syndrome.

Weksberg R, Shuman C, Caluseriu O, Smith AC, Fei YL, Nishikawa J, Stockley TL, Best L, Chitayat D, Olney A, Ives E, Schneider A, Bestor TH, Li M, Sadowski P, Squire J. Weksberg R, et al. Hum Mol Genet. 2002 May 15;11(11):1317-25. doi: 10.1093/hmg/11.11.1317. Hum Mol Genet. 2002. PMID: 12019213

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

293 results

Search Page

Filters