Kelley PM - Search Results

1

Tietz syndrome (hypopigmentation/deafness) caused by mutation of MITF.

Smith SD, Kelley PM, Kenyon JB, Hoover D. Smith SD, et al. Among authors: kelley pm. J Med Genet. 2000 Jun;37(6):446-8. doi: 10.1136/jmg.37.6.446. J Med Genet. 2000. PMID: 10851256 Free PMC article.

2

Novel mutations in the connexin 26 gene (GJB2) that cause autosomal recessive (DFNB1) hearing loss.

Kelley PM, Harris DJ, Comer BC, Askew JW, Fowler T, Smith SD, Kimberling WJ. Kelley PM, et al. Am J Hum Genet. 1998 Apr;62(4):792-9. doi: 10.1086/301807. Am J Hum Genet. 1998. PMID: 9529365 Free PMC article.

3

Molecular approaches to the genetic analysis of specific reading disability.

Smith SD, Kelley PM, Brower AM. Smith SD, et al. Among authors: kelley pm. Hum Biol. 1998 Apr;70(2):239-56. Hum Biol. 1998. PMID: 9549238 Review.

4

Novel mutation in the KCNQ4 gene in a large kindred with dominant progressive hearing loss.

Talebizadeh Z, Kelley PM, Askew JW, Beisel KW, Smith SD. Talebizadeh Z, et al. Among authors: kelley pm. Hum Mutat. 1999;14(6):493-501. doi: 10.1002/(SICI)1098-1004(199912)14:6<493::AID-HUMU8>3.0.CO;2-P. Hum Mutat. 1999. PMID: 10571947

5

Human connexin 30 (GJB6), a candidate gene for nonsyndromic hearing loss: molecular cloning, tissue-specific expression, and assignment to chromosome 13q12.

Kelley PM, Abe S, Askew JW, Smith SD, Usami Si, Kimberling WJ. Kelley PM, et al. Genomics. 1999 Dec 1;62(2):172-6. doi: 10.1006/geno.1999.6002. Genomics. 1999. PMID: 10610709

6

Reading disability and chromosome 6p21.3: evaluation of MOG as a candidate gene.

Smith SD, Kelley PM, Askew JW, Hoover DM, Deffenbacher KE, Gayán J, Brower AM, Olson RK. Smith SD, et al. Among authors: kelley pm. J Learn Disabil. 2001 Nov-Dec;34(6):512-9. doi: 10.1177/002221940103400604. J Learn Disabil. 2001. PMID: 15503566

7

Deafness linked to DFNA2: one locus but how many genes?

Van Hauwe P, Coucke PJ, Declau F, Kunst H, Ensink RJ, Marres HA, Cremers CW, Djelantik B, Smith SD, Kelley P, Van de Heyning PH, Van Camp G. Van Hauwe P, et al. Nat Genet. 1999 Mar;21(3):263. doi: 10.1038/6778. Nat Genet. 1999. PMID: 10080176 No abstract available.

8

Mutations in the KCNQ4 gene are responsible for autosomal dominant deafness in four DFNA2 families.

Coucke PJ, Van Hauwe P, Kelley PM, Kunst H, Schatteman I, Van Velzen D, Meyers J, Ensink RJ, Verstreken M, Declau F, Marres H, Kastury K, Bhasin S, McGuirt WT, Smith RJ, Cremers CW, Van de Heyning P, Willems PJ, Smith SD, Van Camp G. Coucke PJ, et al. Among authors: kelley pm. Hum Mol Genet. 1999 Jul;8(7):1321-8. doi: 10.1093/hmg/8.7.1321. Hum Mol Genet. 1999. PMID: 10369879

9

Genetic heterogeneity of Usher syndrome type II: localisation to chromosome 5q.

Pieke-Dahl S, Möller CG, Kelley PM, Astuto LM, Cremers CW, Gorin MB, Kimberling WJ. Pieke-Dahl S, et al. Among authors: kelley pm. J Med Genet. 2000 Apr;37(4):256-62. doi: 10.1136/jmg.37.4.256. J Med Genet. 2000. PMID: 10745043 Free PMC article.

10

Clinical phenotype and mutations in connexin 26 (DFNB1/GJB2), the most common cause of childhood hearing loss.

Cohn ES, Kelley PM. Cohn ES, et al. Among authors: kelley pm. Am J Med Genet. 1999 Sep 24;89(3):130-6. Am J Med Genet. 1999. PMID: 10704187 Review.

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