Kelley PM - Search Results

1

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.

2

Searching for evidence of DFNB2.

Astuto LM, Kelley PM, Askew JW, Weston MD, Smith RJ, Alswaid AF, Al-Rakaf M, Kimberling WJ. Astuto LM, et al. Among authors: kelley pm. Am J Med Genet. 2002 May 15;109(4):291-7. doi: 10.1002/ajmg.10384. Am J Med Genet. 2002. PMID: 11992483

3

Myosin VIIA mutation screening in 189 Usher syndrome type 1 patients.

Weston MD, Kelley PM, Overbeck LD, Wagenaar M, Orten DJ, Hasson T, Chen ZY, Corey D, Mooseker M, Sumegi J, Cremers C, Moller C, Jacobson SG, Gorin MB, Kimberling WJ. Weston MD, et al. Among authors: kelley pm. Am J Hum Genet. 1996 Nov;59(5):1074-83. Am J Hum Genet. 1996. PMID: 8900236 Free PMC article.

4

Clinical studies of families with hearing loss attributable to mutations in the connexin 26 gene (GJB2/DFNB1).

Cohn ES, Kelley PM, Fowler TW, Gorga MP, Lefkowitz DM, Kuehn HJ, Schaefer GB, Gobar LS, Hahn FJ, Harris DJ, Kimberling WJ. Cohn ES, et al. Among authors: kelley pm. Pediatrics. 1999 Mar;103(3):546-50. doi: 10.1542/peds.103.3.546. Pediatrics. 1999. PMID: 10049954

5

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

6

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

7

Prevalent connexin 26 gene (GJB2) mutations in Japanese.

Abe S, Usami S, Shinkawa H, Kelley PM, Kimberling WJ. Abe S, et al. Among authors: kelley pm. J Med Genet. 2000 Jan;37(1):41-3. doi: 10.1136/jmg.37.1.41. J Med Genet. 2000. PMID: 10633133 Free PMC article.

8

Connexin 26: required for normal auditory function.

Kelley PM, Cohn E, Kimberling WJ. Kelley PM, et al. Brain Res Brain Res Rev. 2000 Apr;32(1):184-8. doi: 10.1016/s0165-0173(99)00080-6. Brain Res Brain Res Rev. 2000. PMID: 10751669 Review.

9

Connexin 26 gene (GJB2) mutation modulates the severity of hearing loss associated with the 1555A-->G mitochondrial mutation.

Abe S, Kelley PM, Kimberling WJ, Usami SI. Abe S, et al. Among authors: kelley pm. Am J Med Genet. 2001 Nov 1;103(4):334-8. Am J Med Genet. 2001. PMID: 11746015

10

OTOF mutations revealed by genetic analysis of hearing loss families including a potential temperature sensitive auditory neuropathy allele.

Varga R, Avenarius MR, Kelley PM, Keats BJ, Berlin CI, Hood LJ, Morlet TG, Brashears SM, Starr A, Cohn ES, Smith RJ, Kimberling WJ. Varga R, et al. Among authors: kelley pm. J Med Genet. 2006 Jul;43(7):576-81. doi: 10.1136/jmg.2005.038612. Epub 2005 Dec 21. J Med Genet. 2006. PMID: 16371502 Free PMC article.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

72 results

Search Page