Seltzer WK - Search Results

1

A multicenter study of the frequency and distribution of GJB2 and GJB6 mutations in a large North American cohort.

Putcha GV, Bejjani BA, Bleoo S, Booker JK, Carey JC, Carson N, Das S, Dempsey MA, Gastier-Foster JM, Greinwald JH Jr, Hoffmann ML, Jeng LJ, Kenna MA, Khababa I, Lilley M, Mao R, Muralidharan K, Otani IM, Rehm HL, Schaefer F, Seltzer WK, Spector EB, Springer MA, Weck KE, Wenstrup RJ, Withrow S, Wu BL, Zariwala MA, Schrijver I. Putcha GV, et al. Among authors: seltzer wk. Genet Med. 2007 Jul;9(7):413-26. Genet Med. 2007. PMID: 17666888 Free article.

2

An empirical estimate of carrier frequencies for 400+ causal Mendelian variants: results from an ethnically diverse clinical sample of 23,453 individuals.

Lazarin GA, Haque IS, Nazareth S, Iori K, Patterson AS, Jacobson JL, Marshall JR, Seltzer WK, Patrizio P, Evans EA, Srinivasan BS. Lazarin GA, et al. Among authors: seltzer wk. Genet Med. 2013 Mar;15(3):178-86. doi: 10.1038/gim.2012.114. Epub 2012 Sep 13. Genet Med. 2013. PMID: 22975760 Free PMC article.

3

Assignment of electron transfer flavoprotein-ubiquinone oxidoreductase (ETF-QO) to human chromosome 4q33 by fluorescence in situ hybridization and somatic cell hybridization.

Spector EB, Seltzer WK, Goodman SI. Spector EB, et al. Among authors: seltzer wk. Mol Genet Metab. 1999 Aug;67(4):364-7. doi: 10.1006/mgme.1999.2873. Mol Genet Metab. 1999. PMID: 10444348

4

Mental retardation locus in Xp21 chromosome microdeletion.

Fries MH, Lebo RV, Schonberg SA, Golabi M, Seltzer WK, Gitelman SE, Golbus MS. Fries MH, et al. Among authors: seltzer wk. Am J Med Genet. 1993 Jun 1;46(4):363-8. doi: 10.1002/ajmg.1320460404. Am J Med Genet. 1993. PMID: 8357005

5

Congenital adrenal hypoplasia and selective absence of pituitary luteinizing hormone: a new autosomal recessive syndrome.

Burke BA, Wick MR, King R, Thompson T, Hansen J, Darrae BT, Francke U, Seltzer WK, McCabe ER, Scheithauer BW. Burke BA, et al. Among authors: seltzer wk. Am J Med Genet. 1988 Sep;31(1):75-97. doi: 10.1002/ajmg.1320310111. Am J Med Genet. 1988. PMID: 2906226 Review.

6

Congenital adrenal hypoplasia, myopathy, and glycerol kinase deficiency: molecular genetic evidence for deletions.

Francke U, Harper JF, Darras BT, Cowan JM, McCabe ER, Kohlschütter A, Seltzer WK, Saito F, Goto J, Harpey JP, et al. Francke U, et al. Among authors: seltzer wk. Am J Hum Genet. 1987 Mar;40(3):212-27. Am J Hum Genet. 1987. PMID: 2883886 Free PMC article.

7

Characterization of patients with glycerol kinase deficiency utilizing cDNA probes for the Duchenne muscular dystrophy locus.

Towbin JA, Wu DR, Chamberlain J, Larsen PD, Seltzer WK, McCabe ER. Towbin JA, et al. Among authors: seltzer wk. Hum Genet. 1989 Sep;83(2):122-6. doi: 10.1007/BF00286703. Hum Genet. 1989. PMID: 2550352

8

Fluorescent multiplex linkage analysis and carrier detection for Duchenne/Becker muscular dystrophy.

Schwartz LS, Tarleton J, Popovich B, Seltzer WK, Hoffman EP. Schwartz LS, et al. Among authors: seltzer wk. Am J Hum Genet. 1992 Oct;51(4):721-9. Am J Hum Genet. 1992. PMID: 1415217 Free PMC article.

9

Negative-configuration electroretinogram in Oregon eye disease. Consistent phenotype in Xp21 deletion syndrome.

Pillers DA, Seltzer WK, Powell BR, Ray PN, Tremblay F, La Roche GR, Lewis RA, McCabe ER, Eriksson AW, Weleber RG. Pillers DA, et al. Among authors: seltzer wk. Arch Ophthalmol. 1993 Nov;111(11):1558-63. doi: 10.1001/archopht.1993.01090110124037. Arch Ophthalmol. 1993. PMID: 8240114

10

Congenital adrenal hypoplasia, Duchenne muscular dystrophy, and glycerol kinase deficiency: importance of laboratory investigations in delineating a contiguous gene deletion syndrome.

Cole DE, Clarke LA, Riddell DC, Samson KA, Seltzer WK, Salisbury S. Cole DE, et al. Among authors: seltzer wk. Clin Chem. 1994 Nov;40(11 Pt 1):2099-103. Clin Chem. 1994. PMID: 7955386

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