Deininger PL - Search Results

1

Dominant and recessive deafness caused by mutations of a novel gene, TMC1, required for cochlear hair-cell function.

Kurima K, Peters LM, Yang Y, Riazuddin S, Ahmed ZM, Naz S, Arnaud D, Drury S, Mo J, Makishima T, Ghosh M, Menon PS, Deshmukh D, Oddoux C, Ostrer H, Khan S, Riazuddin S, Deininger PL, Hampton LL, Sullivan SL, Battey JF Jr, Keats BJ, Wilcox ER, Friedman TB, Griffith AJ. Kurima K, et al. Among authors: deininger pl. Nat Genet. 2002 Mar;30(3):277-84. doi: 10.1038/ng842. Epub 2002 Feb 19. Nat Genet. 2002. PMID: 11850618

2

The USH1C 216G-->A splice-site mutation results in a 35-base-pair deletion.

Lentz J, Savas S, Ng SS, Athas G, Deininger P, Keats B. Lentz J, et al. Hum Genet. 2005 Feb;116(3):225-7. doi: 10.1007/s00439-004-1217-4. Epub 2004 Dec 1. Hum Genet. 2005. PMID: 15578223

3

Ush1c216A knock-in mouse survives Katrina.

Lentz J, Pan F, Ng SS, Deininger P, Keats B. Lentz J, et al. Mutat Res. 2007 Mar 1;616(1-2):139-44. doi: 10.1016/j.mrfmmm.2006.11.006. Epub 2006 Dec 15. Mutat Res. 2007. PMID: 17174357

4

The mouse deafness locus (dn) is associated with an inversion on chromosome 19.

Viñas AM, Drury SS, DeAngelis MM, Den Z, Huang JM, Berlin CI, Hunt JD, Batzer MA, Deininger PL, Keats BJ. Viñas AM, et al. Among authors: deininger pl. Biochim Biophys Acta. 1998 Sep 30;1407(3):257-62. doi: 10.1016/s0925-4439(98)00050-7. Biochim Biophys Acta. 1998. PMID: 9748617 Free article.

5

Tightly linked flanking microsatellite markers for the Usher syndrome type I locus on the short arm of chromosome 11.

Keats BJ, Nouri N, Pelias MZ, Deininger PL, Litt M. Keats BJ, et al. Among authors: deininger pl. Am J Hum Genet. 1994 Apr;54(4):681-6. Am J Hum Genet. 1994. PMID: 8128966 Free PMC article.

6

Comparative studies of the CAG repeats in the spinocerebellar ataxia type 1 (SCA1) gene.

Limprasert P, Nouri N, Nopparatana C, Deininger PL, Keats BJ. Limprasert P, et al. Among authors: deininger pl. Am J Med Genet. 1997 Sep 19;74(5):488-93. doi: 10.1002/(sici)1096-8628(19970919)74:5<488::aid-ajmg6>3.0.co;2-k. Am J Med Genet. 1997. PMID: 9342197

7

Structure, diversity, and evolution of the 45-bp VNTR in intron 5 of the USH1C gene.

Savas S, Frischhertz B, Batzer MA, Deininger PL, Keats BJ. Savas S, et al. Among authors: deininger pl. Genomics. 2004 Mar;83(3):439-44. doi: 10.1016/j.ygeno.2003.09.006. Genomics. 2004. PMID: 14962669

8

Analysis of CAG repeat of the Machado-Joseph gene in human, chimpanzee and monkey populations: a variant nucleotide is associated with the number of CAG repeats.

Limprasert P, Nouri N, Heyman RA, Nopparatana C, Kamonsilp M, Deininger PL, Keats BJ. Limprasert P, et al. Among authors: deininger pl. Hum Mol Genet. 1996 Feb;5(2):207-13. doi: 10.1093/hmg/5.2.207. Hum Mol Genet. 1996. PMID: 8824876

9

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: deininger pl. Gene. 1998 Jul 30;215(2):461-9. doi: 10.1016/s0378-1119(98)00316-3. Gene. 1998. PMID: 9758550

10

Phylogenetic analysis of the Friedreich ataxia GAA trinucleotide repeat.

Justice CM, Den Z, Nguyen SV, Stoneking M, Deininger PL, Batzer MA, Keats BJ. Justice CM, et al. Among authors: deininger pl. J Mol Evol. 2001 Mar;52(3):232-8. doi: 10.1007/s002390010151. J Mol Evol. 2001. PMID: 11428460

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