Kimberling WJ - Search Results

1

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: kimberling wj. 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.

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: kimberling wj. Am J Med Genet. 2002 May 15;109(4):291-7. doi: 10.1002/ajmg.10384. Am J Med Genet. 2002. PMID: 11992483

3

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. Among authors: kimberling wj. Am J Hum Genet. 1998 Apr;62(4):792-9. doi: 10.1086/301807. Am J Hum Genet. 1998. PMID: 9529365 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: kimberling wj. Pediatrics. 1999 Mar;103(3):546-50. doi: 10.1542/peds.103.3.546. Pediatrics. 1999. PMID: 10049954

5

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: kimberling wj. 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.

6

Connexin 26: required for normal auditory function.

Kelley PM, Cohn E, Kimberling WJ. Kelley PM, et al. Among authors: kimberling wj. 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.

7

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: kimberling wj. Am J Med Genet. 2001 Nov 1;103(4):334-8. Am J Med Genet. 2001. PMID: 11746015

8

Non-syndromic recessive auditory neuropathy is the result of mutations in the otoferlin (OTOF) gene.

Varga R, Kelley PM, Keats BJ, Starr A, Leal SM, Cohn E, Kimberling WJ. Varga R, et al. Among authors: kimberling wj. J Med Genet. 2003 Jan;40(1):45-50. doi: 10.1136/jmg.40.1.45. J Med Genet. 2003. PMID: 12525542 Free PMC article. No abstract available.

9

Frequency of Usher syndrome in two pediatric populations: Implications for genetic screening of deaf and hard of hearing children.

Kimberling WJ, Hildebrand MS, Shearer AE, Jensen ML, Halder JA, Trzupek K, Cohn ES, Weleber RG, Stone EM, Smith RJ. Kimberling WJ, et al. Genet Med. 2010 Aug;12(8):512-6. doi: 10.1097/GIM.0b013e3181e5afb8. Genet Med. 2010. PMID: 20613545 Free PMC article.

10

Is hearing loss due to mutations in the Connexin 26 gene progressive?

Gopalarao D, Kimberling WJ, Jesteadt W, Kelley PM, Beauchaine KL, Cohn ES. Gopalarao D, et al. Among authors: kimberling wj. Int J Audiol. 2008 Jan;47(1):11-20. doi: 10.1080/14992020701602087. Int J Audiol. 2008. PMID: 18196482

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