Weksberg R - Search Results

1

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: weksberg r. J Pediatr. 1996 Feb;128(2):225-9. doi: 10.1016/s0022-3476(96)70394-3. J Pediatr. 1996. PMID: 8636816

2

Absence of the greater sphenoid wing in neurofibromatosis type I: congenital or acquired: case report.

Macfarlane R, Levin AV, Weksberg R, Blaser S, Rutka JT. Macfarlane R, et al. Among authors: weksberg r. Neurosurgery. 1995 Jul;37(1):129-33. doi: 10.1227/00006123-199507000-00020. Neurosurgery. 1995. PMID: 8587673

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: 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

4

Alström syndrome: further evidence for linkage to human chromosome 2p13.

Collin GB, Marshall JD, Boerkoel CF, Levin AV, Weksberg R, Greenberg J, Michaud JL, Naggert JK, Nishina PM. Collin GB, et al. Among authors: weksberg r. Hum Genet. 1999 Nov;105(5):474-9. doi: 10.1007/s004390051133. Hum Genet. 1999. PMID: 10598815

5

Manifestations and treatment of Schimke immuno-osseous dysplasia: 14 new cases and a review of the literature.

Boerkoel CF, O'Neill S, André JL, Benke PJ, Bogdanovíć R, Bulla M, Burguet A, Cockfield S, Cordeiro I, Ehrich JH, Fründ S, Geary DF, Ieshima A, Illies F, Joseph MW, Kaitila I, Lama G, Leheup B, Ludman MD, McLeod DR, Medeira A, Milford DV, Ormälä T, Rener-Primec Z, Santava A, Santos HG, Schmidt B, Smith GC, Spranger J, Zupancic N, Weksberg R. Boerkoel CF, et al. Among authors: weksberg r. Eur J Pediatr. 2000 Jan-Feb;159(1-2):1-7. doi: 10.1007/s004310050001. Eur J Pediatr. 2000. PMID: 10653321

6

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: weksberg r. J Pediatr. 2000 Jul;137(1):123-7. doi: 10.1067/mpd.2000.106217. J Pediatr. 2000. PMID: 10891834

7

Analphoid 3qter markers.

Teshima I, Bawle EV, Weksberg R, Shuman C, Van Dyke DL, Schwartz S. Teshima I, et al. Among authors: weksberg r. 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

8

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: weksberg r. Genomics. 2001 Jun 15;74(3):370-6. doi: 10.1006/geno.2001.6549. Genomics. 2001. PMID: 11414765

9

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

10

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

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