Witt DR - Search Results

1

Identification of copy number variants associated with BPES-like phenotypes.

Gijsbers AC, D'haene B, Hilhorst-Hofstee Y, Mannens M, Albrecht B, Seidel J, Witt DR, Maisenbacher MK, Loeys B, van Essen T, Bakker E, Hennekam R, Breuning MH, De Baere E, Ruivenkamp CA. Gijsbers AC, et al. Among authors: witt dr. Hum Genet. 2008 Dec;124(5):489-98. doi: 10.1007/s00439-008-0574-9. Epub 2008 Oct 25. Hum Genet. 2008. PMID: 18953567

2

Detection of uniparental isodisomy in autosomal recessive mitochondrial DNA depletion syndrome by high-density SNP array analysis.

Douglas GV, Wiszniewska J, Lipson MH, Witt DR, McDowell T, Sifry-Platt M, Hirano M, Craigen WJ, Wong LJ. Douglas GV, et al. Among authors: witt dr. J Hum Genet. 2011 Dec;56(12):834-9. doi: 10.1038/jhg.2011.112. Epub 2011 Oct 20. J Hum Genet. 2011. PMID: 22011815 Free PMC article.

3

Mutations in ABCA12 underlie the severe congenital skin disease harlequin ichthyosis.

Kelsell DP, Norgett EE, Unsworth H, Teh MT, Cullup T, Mein CA, Dopping-Hepenstal PJ, Dale BA, Tadini G, Fleckman P, Stephens KG, Sybert VP, Mallory SB, North BV, Witt DR, Sprecher E, Taylor AE, Ilchyshyn A, Kennedy CT, Goodyear H, Moss C, Paige D, Harper JI, Young BD, Leigh IM, Eady RA, O'Toole EA. Kelsell DP, et al. Among authors: witt dr. Am J Hum Genet. 2005 May;76(5):794-803. doi: 10.1086/429844. Epub 2005 Mar 8. Am J Hum Genet. 2005. PMID: 15756637 Free PMC article.

4

Quantification by flow cytometry of chromosome-17 deletions in Smith-Magenis syndrome patients.

Trask BJ, Mefford H, van den Engh G, Massa HF, Juyal RC, Potocki L, Finucane B, Abuelo DN, Witt DR, Magenis E, Baldini A, Greenberg F, Lupski JR, Patel PI. Trask BJ, et al. Among authors: witt dr. Hum Genet. 1996 Dec;98(6):710-8. doi: 10.1007/s004390050291. Hum Genet. 1996. PMID: 8931707

5

Multiplex PCR amplification from the CFTR gene using DNA prepared from buccal brushes/swabs.

Richards B, Skoletsky J, Shuber AP, Balfour R, Stern RC, Dorkin HL, Parad RB, Witt D, Klinger KW. Richards B, et al. Hum Mol Genet. 1993 Feb;2(2):159-63. doi: 10.1093/hmg/2.2.159. Hum Mol Genet. 1993. PMID: 7684637

6

Cystic fibrosis heterozygote screening in 5,161 pregnant women.

Witt DR, Schaefer C, Hallam P, Wi S, Blumberg B, Fishbach A, Holtzman J, Kornfeld S, Lee R, Nemzer L, Palmer R. Witt DR, et al. Am J Hum Genet. 1996 Apr;58(4):823-35. Am J Hum Genet. 1996. PMID: 8644747 Free PMC article.

7

Partial deletion of the short arm of chromosome 3 (3p25----3pter). Further delineation of the clinical phenotype.

Witt DR, Biedermann B, Hall JG. Witt DR, et al. Clin Genet. 1985 Apr;27(4):402-7. doi: 10.1111/j.1399-0004.1985.tb02283.x. Clin Genet. 1985. PMID: 3995790

8

Restrictive dermopathy: a newly recognized autosomal recessive skin dysplasia.

Witt DR, Hayden MR, Holbrook KA, Dale BA, Baldwin VJ, Taylor GP. Witt DR, et al. Am J Med Genet. 1986 Aug;24(4):631-48. doi: 10.1002/ajmg.1320240408. Am J Med Genet. 1986. PMID: 2426945

9

Clinical phenotypes of different MPZ (P0) mutations may include Charcot-Marie-Tooth type 1B, Dejerine-Sottas, and congenital hypomyelination.

Warner LE, Hilz MJ, Appel SH, Killian JM, Kolodry EH, Karpati G, Carpenter S, Watters GV, Wheeler C, Witt D, Bodell A, Nelis E, Van Broeckhoven C, Lupski JR. Warner LE, et al. Neuron. 1996 Sep;17(3):451-60. doi: 10.1016/s0896-6273(00)80177-4. Neuron. 1996. PMID: 8816708 Free article.

10

Arrested epidermal morphogenesis in three newborn infants with a fatal genetic disorder (restrictive dermopathy).

Holbrook KA, Dale BA, Witt DR, Hayden MR, Toriello HV. Holbrook KA, et al. Among authors: witt dr. J Invest Dermatol. 1987 Mar;88(3):330-9. doi: 10.1111/1523-1747.ep12466219. J Invest Dermatol. 1987. PMID: 2434579

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