Whiteman D - Search Results

1

Limb anomalies in DiGeorge and CHARGE syndromes.

Prasad C, Quackenbush EJ, Whiteman D, Korf B. Prasad C, et al. Among authors: whiteman d. Am J Med Genet. 1997 Jan 20;68(2):179-81. doi: 10.1002/(sici)1096-8628(19970120)68:2<179::aid-ajmg11>3.0.co;2-r. Am J Med Genet. 1997. PMID: 9028454

2

CHARGE association in a child with de novo inverted duplication (14)(q22-->q24.3).

North KN, Wu BL, Cao BN, Whiteman DA, Korf BR. North KN, et al. Among authors: whiteman da. Am J Med Genet. 1995 Jul 17;57(4):610-4. doi: 10.1002/ajmg.1320570419. Am J Med Genet. 1995. PMID: 7573139

3

Hypoglycinaemia and psychomotor delay in a child with xeroderma pigmentosum.

Quackenbush EJ, Kraemer KH, Gahl WA, Schirch V, Whiteman DA, Levine K, Levy HL. Quackenbush EJ, et al. Among authors: whiteman da. J Inherit Metab Dis. 1999 Dec;22(8):915-24. doi: 10.1023/a:1005691424004. J Inherit Metab Dis. 1999. PMID: 10604143

4

Identical twins with Cohen syndrome.

North KN, Fulton AB, Whiteman DA. North KN, et al. Among authors: whiteman da. Am J Med Genet. 1995 Jul 31;58(1):54-8. doi: 10.1002/ajmg.1320580112. Am J Med Genet. 1995. PMID: 7573157

5

Treacher Collins syndrome: phenotypic variability in a family including an infant with arhinia and uveal colobomas.

Hansen M, Lucarelli MJ, Whiteman DA, Mulliken JB. Hansen M, et al. Among authors: whiteman da. Am J Med Genet. 1996 Jan 2;61(1):71-4. doi: 10.1002/(SICI)1096-8628(19960102)61:1<71::AID-AJMG14>3.0.CO;2-T. Am J Med Genet. 1996. PMID: 8741923

6

Chromosome 7p--syndrome: craniosynostosis with preservation of region 7p2.

Aughton DJ, Cassidy SB, Whiteman DA, Delach JA, Guttmacher AE. Aughton DJ, et al. Among authors: whiteman da. Am J Med Genet. 1991 Sep 15;40(4):440-3. doi: 10.1002/ajmg.1320400412. Am J Med Genet. 1991. PMID: 1746608

7

A multicenter, open-label study evaluating safety and clinical outcomes in children (1.4-7.5 years) with Hunter syndrome receiving idursulfase enzyme replacement therapy.

Giugliani R, Hwu WL, Tylki-Szymanska A, Whiteman DA, Pano A. Giugliani R, et al. Genet Med. 2014 Jun;16(6):435-41. doi: 10.1038/gim.2013.162. Epub 2013 Nov 7. Genet Med. 2014. PMID: 24202085 Free PMC article. Clinical Trial.

8

Molecular characterization of cytogenetic alterations associated with the Beckwith-Wiedemann syndrome (BWS) phenotype refines the localization and suggests the gene for BWS is imprinted.

Weksberg R, Teshima I, Williams BR, Greenberg CR, Pueschel SM, Chernos JE, Fowlow SB, Hoyme E, Anderson IJ, Whiteman DA, et al. Weksberg R, et al. Among authors: whiteman da. Hum Mol Genet. 1993 May;2(5):549-56. doi: 10.1093/hmg/2.5.549. Hum Mol Genet. 1993. PMID: 8518793

9

Molecular bases of hearing loss in multi-systemic mitochondrial cytopathy.

Scaglia F, Hsu CH, Kwon H, Bai RK, Perng CL, Chang HM, Dai P, Smith EO, Whiteman DA, Feigenbaum A, Gropman A, Wong LJ. Scaglia F, et al. Genet Med. 2006 Oct;8(10):641-52. doi: 10.1097/01.gim.0000237781.10594.d1. Genet Med. 2006. PMID: 17079881 Free article.

10

Optic nerve coloboma associated with renal disease.

Weaver RG, Cashwell LF, Lorentz W, Whiteman D, Geisinger KR, Ball M. Weaver RG, et al. Among authors: whiteman d. Am J Med Genet. 1988 Mar;29(3):597-605. doi: 10.1002/ajmg.1320290318. Am J Med Genet. 1988. PMID: 3377002

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