White SM - Search Results

1

Broad phenotypic spectrum caused by an identical heterozygous CDMP-1 mutation in three unrelated families.

Savarirayan R, White SM, Goodman FR, Graham JM Jr, Delatycki MB, Lachman RS, Rimoin DL, Everman DB, Warman ML. Savarirayan R, et al. Among authors: white sm. Am J Med Genet A. 2003 Mar 1;117A(2):136-42. doi: 10.1002/ajmg.a.10924. Am J Med Genet A. 2003. PMID: 12567410

2

The mutational spectrum of brachydactyly type C.

Everman DB, Bartels CF, Yang Y, Yanamandra N, Goodman FR, Mendoza-Londono JR, Savarirayan R, White SM, Graham JM Jr, Gale RP, Svarch E, Newman WG, Kleckers AR, Francomano CA, Govindaiah V, Singh L, Morrison S, Thomas JT, Warman ML. Everman DB, et al. Among authors: white sm. Am J Med Genet. 2002 Oct 15;112(3):291-6. doi: 10.1002/ajmg.10777. Am J Med Genet. 2002. PMID: 12357473

3

Mutations in PHF6 are associated with Börjeson-Forssman-Lehmann syndrome.

Lower KM, Turner G, Kerr BA, Mathews KD, Shaw MA, Gedeon AK, Schelley S, Hoyme HE, White SM, Delatycki MB, Lampe AK, Clayton-Smith J, Stewart H, van Ravenswaay CM, de Vries BB, Cox B, Grompe M, Ross S, Thomas P, Mulley JC, Gécz J. Lower KM, et al. Among authors: white sm. Nat Genet. 2002 Dec;32(4):661-5. doi: 10.1038/ng1040. Epub 2002 Nov 4. Nat Genet. 2002. PMID: 12415272

4

Two further cases of Ohdo syndrome delineate the phenotypic variability of the condition.

White SM, Adès LC, Amor D, Liebelt J, Bankier A, Baker E, Wilson M, Savarirayan R. White SM, et al. Clin Dysmorphol. 2003 Apr;12(2):109-13. doi: 10.1097/00019605-200304000-00007. Clin Dysmorphol. 2003. PMID: 12868473

5

The clinical picture of the Börjeson-Forssman-Lehmann syndrome in males and heterozygous females with PHF6 mutations.

Turner G, Lower KM, White SM, Delatycki M, Lampe AK, Wright M, Smith JC, Kerr B, Schelley S, Hoyme HE, De Vries BB, Kleefstra T, Grompe M, Cox B, Gecz J, Partington M. Turner G, et al. Among authors: white sm. Clin Genet. 2004 Mar;65(3):226-32. doi: 10.1111/j.0009-9163.2004.00215.x. Clin Genet. 2004. PMID: 14756673

6

Growth, behavior, and clinical findings in 27 patients with Kabuki (Niikawa-Kuroki) syndrome.

White SM, Thompson EM, Kidd A, Savarirayan R, Turner A, Amor D, Delatycki MB, Fahey M, Baxendale A, White S, Haan E, Gibson K, Halliday JL, Bankier A. White SM, et al. Among authors: white s. Am J Med Genet A. 2004 Jun 1;127A(2):118-27. doi: 10.1002/ajmg.a.20674. Am J Med Genet A. 2004. PMID: 15108197

7

Unstable Robertsonian translocations der(13;15)(q10;q10): heritable chromosome fission without phenotypic effect in two kindreds.

Perry J, White SM, Nouri S, Bain SM, Hutchinson RG, La P, Northrop E, Eyre HJ, Pertile MD, Hocking TA, Thompson EM, Yu S, Choo KH, Slater HR. Perry J, et al. Among authors: white sm. Am J Med Genet A. 2005 Jul 1;136(1):25-30. doi: 10.1002/ajmg.a.30763. Am J Med Genet A. 2005. PMID: 15889410

8

The adult phenotype in Costello syndrome.

White SM, Graham JM Jr, Kerr B, Gripp K, Weksberg R, Cytrynbaum C, Reeder JL, Stewart FJ, Edwards M, Wilson M, Bankier A. White SM, et al. Am J Med Genet A. 2005 Jul 15;136(2):128-35. doi: 10.1002/ajmg.a.30747. Am J Med Genet A. 2005. PMID: 15940703

9

Prenatal magnetic resonance imaging in Gomez-Lopez-Hernandez syndrome and review of the literature.

Tan TY, McGillivray G, Goergen SK, White SM. Tan TY, et al. Among authors: white sm. Am J Med Genet A. 2005 Nov 1;138(4):369-73. doi: 10.1002/ajmg.a.30967. Am J Med Genet A. 2005. PMID: 16158443 Review.

10

Rapp-Hodgkin ectodermal dysplasia syndrome: the clinical and molecular overlap with Hay-Wells syndrome.

Kannu P, Savarirayan R, Ozoemena L, White SM, McGrath JA. Kannu P, et al. Among authors: white sm. Am J Med Genet A. 2006 Apr 15;140(8):887-91. doi: 10.1002/ajmg.a.31187. Am J Med Genet A. 2006. PMID: 16532463

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