Witt D - Search Results

1

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. Among authors: witt d. Hum Mol Genet. 1993 Feb;2(2):159-63. doi: 10.1093/hmg/2.2.159. Hum Mol Genet. 1993. PMID: 7684637

2

Cystic fibrosis population carrier screening: 2004 revision of American College of Medical Genetics mutation panel.

Watson MS, Cutting GR, Desnick RJ, Driscoll DA, Klinger K, Mennuti M, Palomaki GE, Popovich BW, Pratt VM, Rohlfs EM, Strom CM, Richards CS, Witt DR, Grody WW. Watson MS, et al. Genet Med. 2004 Sep-Oct;6(5):387-91. doi: 10.1097/01.gim.0000139506.11694.7c. Genet Med. 2004. PMID: 15371902 Free PMC article. No abstract available.

3

Issues in implementing prenatal screening for cystic fibrosis: results of a working conference.

Haddow JE, Bradley LA, Palomaki GE, Doherty RA, Bernhardt BA, Brock DJ, Cheuvront B, Cunningham GC, Donnenfeld AE, Erickson JL, Erlich HA, Ferrie RM, FitzSimmons SC, Greene MF, Grody WW, Haddow PK, Harris H, Holmes LB, Howell RR, Katz M, Klinger KW, Kloza EM, LeFevre ML, Little S, Loeben G, McGovern M, Pyeritz RE, Rowley PT, Saiki RK, Short MP, Tabone J, Wald NJ, Wilker NL, Witt DR. Haddow JE, et al. Among authors: witt dr. Genet Med. 1999 May-Jun;1(4):129-35. doi: 10.1097/00125817-199905000-00003. Genet Med. 1999. PMID: 11258347 Free article.

4

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.

5

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. 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.

6

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, d haene b. Hum Genet. 2008 Dec;124(5):489-98. doi: 10.1007/s00439-008-0574-9. Epub 2008 Oct 25. Hum Genet. 2008. PMID: 18953567

7

Lymphedema in Noonan syndrome: clues to pathogenesis and prenatal diagnosis and review of the literature.

Witt DR, Hoyme HE, Zonana J, Manchester DK, Fryns JP, Stevenson JG, Curry CJ, Hall JG. Witt DR, et al. Am J Med Genet. 1987 Aug;27(4):841-56. doi: 10.1002/ajmg.1320270412. Am J Med Genet. 1987. PMID: 3321992 Review.

8

Bleeding diathesis in Noonan syndrome: a common association.

Witt DR, McGillivray BC, Allanson JE, Hughes HE, Hathaway WE, Zipursky A, Hall JG. Witt DR, et al. Am J Med Genet. 1988 Oct;31(2):305-17. doi: 10.1002/ajmg.1320310208. Am J Med Genet. 1988. PMID: 3232698

9

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.

10

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

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