Shuman C - Search Results

1

Paternal Uniparental Disomy of the Entire Chromosome 20 in a Child with Beckwith-Wiedemann Syndrome.

Choufani S, Ko JM, Lou Y, Shuman C, Fishman L, Weksberg R. Choufani S, et al. Among authors: shuman c. Genes (Basel). 2021 Jan 27;12(2):172. doi: 10.3390/genes12020172. Genes (Basel). 2021. PMID: 33513760 Free PMC article.

2

Natural history of Alström syndrome in early childhood: onset with dilated cardiomyopathy.

Michaud JL, Héon E, Guilbert F, Weill J, Puech B, Benson L, Smallhorn JF, Shuman CT, Buncic JR, Levin AV, Weksberg R, Brevière GM. Michaud JL, et al. Among authors: shuman ct. J Pediatr. 1996 Feb;128(2):225-9. doi: 10.1016/s0022-3476(96)70394-3. J Pediatr. 1996. PMID: 8636816

3

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

4

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

5

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

6

Imprinting status of 11p15 genes in Beckwith-Wiedemann syndrome patients with CDKN1C mutations.

Li M, Squire J, Shuman C, Fei YL, Atkin J, Pauli R, Smith A, Nishikawa J, Chitayat D, Weksberg R. Li M, et al. Among authors: shuman c. Genomics. 2001 Jun 15;74(3):370-6. doi: 10.1006/geno.2001.6549. Genomics. 2001. PMID: 11414765

7

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: shuman c. 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

8

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

9

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: shuman c. Pediatr Dev Pathol. 2001 Nov-Dec;4(6):550-8. doi: 10.1007/s10024001-0110-6. Pediatr Dev Pathol. 2001. PMID: 11826361

10

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: shuman c. Genomics. 2002 Feb;79(2):186-96. doi: 10.1006/geno.2002.6695. Genomics. 2002. PMID: 11829489

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