Sheffield VC - Search Results

1

Carrier rates in the midwestern United States for GJB2 mutations causing inherited deafness.

Green GE, Scott DA, McDonald JM, Woodworth GG, Sheffield VC, Smith RJ. Green GE, et al. Among authors: sheffield vc. JAMA. 1999 Jun 16;281(23):2211-6. doi: 10.1001/jama.281.23.2211. JAMA. 1999. PMID: 10376574

2

Performance of cochlear implant recipients with GJB2-related deafness.

Green GE, Scott DA, McDonald JM, Teagle HF, Tomblin BJ, Spencer LJ, Woodworth GG, Knutson JF, Gantz BJ, Sheffield VC, Smith RJ. Green GE, et al. Among authors: sheffield vc. Am J Med Genet. 2002 May 1;109(3):167-70. doi: 10.1002/ajmg.10330. Am J Med Genet. 2002. PMID: 11977173 Free PMC article.

3

Identification of mutations in the connexin 26 gene that cause autosomal recessive nonsyndromic hearing loss.

Scott DA, Kraft ML, Carmi R, Ramesh A, Elbedour K, Yairi Y, Srisailapathy CR, Rosengren SS, Markham AF, Mueller RF, Lench NJ, Van Camp G, Smith RJ, Sheffield VC. Scott DA, et al. Among authors: sheffield vc. Hum Mutat. 1998;11(5):387-94. doi: 10.1002/(SICI)1098-1004(1998)11:5<387::AID-HUMU6>3.0.CO;2-8. Hum Mutat. 1998. PMID: 9600457

4

Pendred syndrome, DFNB4, and PDS/SLC26A4 identification of eight novel mutations and possible genotype-phenotype correlations.

Campbell C, Cucci RA, Prasad S, Green GE, Edeal JB, Galer CE, Karniski LP, Sheffield VC, Smith RJ. Campbell C, et al. Among authors: sheffield vc. Hum Mutat. 2001 May;17(5):403-11. doi: 10.1002/humu.1116. Hum Mutat. 2001. PMID: 11317356

5

An autosomal recessive nonsyndromic-hearing-loss locus identified by DNA pooling using two inbred Bedouin kindreds.

Scott DA, Carmi R, Elbedour K, Yosefsberg S, Stone EM, Sheffield VC. Scott DA, et al. Among authors: sheffield vc. Am J Hum Genet. 1996 Aug;59(2):385-91. Am J Hum Genet. 1996. PMID: 8755925 Free PMC article.

6

A gene for autosomal dominant late-onset progressive non-syndromic hearing loss, DFNA10, maps to chromosome 6.

O'Neill ME, Marietta J, Nishimura D, Wayne S, Van Camp G, Van Laer L, Negrini C, Wilcox ER, Chen A, Fukushima K, Ni L, Sheffield VC, Smith RJ. O'Neill ME, et al. Among authors: sheffield vc. Hum Mol Genet. 1996 Jun;5(6):853-6. doi: 10.1093/hmg/5.6.853. Hum Mol Genet. 1996. PMID: 8776603

7

Localization of the Usher syndrome type ID gene (Ush1D) to chromosome 10.

Wayne S, Der Kaloustian VM, Schloss M, Polomeno R, Scott DA, Hejtmancik JF, Sheffield VC, Smith RJ. Wayne S, et al. Among authors: sheffield vc. Hum Mol Genet. 1996 Oct;5(10):1689-92. doi: 10.1093/hmg/5.10.1689. Hum Mol Genet. 1996. PMID: 8894709

8

New gene for autosomal recessive non-syndromic hearing loss maps to either chromosome 3q or 19p.

Chen A, Wayne S, Bell A, Ramesh A, Srisailapathy CR, Scott DA, Sheffield VC, Van Hauwe P, Zbar RI, Ashley J, Lovett M, Van Camp G, Smith RJ. Chen A, et al. Among authors: sheffield vc. Am J Med Genet. 1997 Sep 5;71(4):467-71. Am J Med Genet. 1997. PMID: 9286457

9

Construction of P1-derived artificial chromosome and yeast artificial chromosome contigs encompassing the DFNB7 and DFNB11 region of chromosome 9q13-21.

Greinwald JH Jr, Scott DA, Marietta JR, Carmi R, Manaligod J, Ramesh A, Zbar RI, Kraft ML, Elbedour K, Yairi Y, Musy M, Skvorak AB, Van Camp G, Srisailapathy CR, Lovett M, Morton CC, Sheffield VC, Smith RJ. Greinwald JH Jr, et al. Among authors: sheffield vc. Genome Res. 1997 Sep;7(9):879-86. doi: 10.1101/gr.7.9.879. Genome Res. 1997. PMID: 9314493 Free article.

10

Identification and mutation analysis of a cochlear-expressed, zinc finger protein gene at the DFNB7/11 and dn hearing-loss loci on human chromosome 9q and mouse chromosome 19.

Scott DA, Greinwald JH Jr, Marietta JR, Drury S, Swiderski RE, Viñas A, DeAngelis MM, Carmi R, Ramesh A, Kraft ML, Elbedour K, Skworak AB, Friedman RA, Srikumari Srisailapathy CR, Verhoeven K, Van Gamp G, Lovett M, Deininger PL, Batzer MA, Morton CC, Keats BJ, Smith RJ, Sheffield VC. Scott DA, et al. Among authors: sheffield vc. Gene. 1998 Jul 30;215(2):461-9. doi: 10.1016/s0378-1119(98)00316-3. Gene. 1998. PMID: 9758550

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