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Beckwith-Wiedemann syndrome.
Weksberg R, Shuman C, Smith AC. Weksberg R, et al. Among authors: shuman c. Am J Med Genet C Semin Med Genet. 2005 Aug 15;137C(1):12-23. doi: 10.1002/ajmg.c.30058. Am J Med Genet C Semin Med Genet. 2005. PMID: 16010676 Review.
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: shuman c. 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
Serum alpha-fetoprotein levels in Beckwith-Wiedemann syndrome.
Everman DB, Shuman C, Dzolganovski B, O'riordan MA, Weksberg R, Robin NH. Everman DB, et al. Among authors: shuman c. J Pediatr. 2000 Jul;137(1):123-7. doi: 10.1067/mpd.2000.106217. J Pediatr. 2000. PMID: 10891834
Analphoid 3qter markers.
Teshima I, Bawle EV, Weksberg R, Shuman C, Van Dyke DL, Schwartz S. Teshima I, et al. Among authors: shuman c. Am J Med Genet. 2000 Sep 11;94(2):113-9. doi: 10.1002/1096-8628(20000911)94:2<113::aid-ajmg3>3.0.co;2-q. Am J Med Genet. 2000. PMID: 10982967
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. Among authors: shuman c. Hum Mol Genet. 2001 Dec 15;10(26):2989-3000. doi: 10.1093/hmg/10.26.2989. Hum Mol Genet. 2001. PMID: 11751681
247 results