Cohn ES - Search Results

1

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. Pediatrics. 1999 Mar;103(3):546-50. doi: 10.1542/peds.103.3.546. Pediatrics. 1999. PMID: 10049954

2

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.

3

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. Am J Med Genet. 1999 Sep 24;89(3):130-6. Am J Med Genet. 1999. PMID: 10704187 Review.

4

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: cohn es. 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.

5

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: cohn es. Int J Audiol. 2008 Jan;47(1):11-20. doi: 10.1080/14992020701602087. Int J Audiol. 2008. PMID: 18196482

6

Tone burst auditory brain stem response latency estimates of cochlear travel time in Meniere's disease, cochlear hearing loss, and normal ears.

Murray JG, Cohn ES, Harker LA, Gorga MP. Murray JG, et al. Among authors: cohn es. Am J Otol. 1998 Nov;19(6):854-9. Am J Otol. 1998. PMID: 9831168

7

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. Among authors: cohn es. Genet Med. 2010 Aug;12(8):512-6. doi: 10.1097/GIM.0b013e3181e5afb8. Genet Med. 2010. PMID: 20613545 Free PMC article.

8

Fluctuating sensorineural hearing loss associated with enlarged vestibular aqueduct maps to 7q31, the region containing the Pendred gene.

Abe S, Usami S, Hoover DM, Cohn E, Shinkawa H, Kimberling WJ. Abe S, et al. Am J Med Genet. 1999 Feb 12;82(4):322-8. Am J Med Genet. 1999. PMID: 10051166

9

GJB2 mutations and degree of hearing loss: a multicenter study.

Snoeckx RL, Huygen PL, Feldmann D, Marlin S, Denoyelle F, Waligora J, Mueller-Malesinska M, Pollak A, Ploski R, Murgia A, Orzan E, Castorina P, Ambrosetti U, Nowakowska-Szyrwinska E, Bal J, Wiszniewski W, Janecke AR, Nekahm-Heis D, Seeman P, Bendova O, Kenna MA, Frangulov A, Rehm HL, Tekin M, Incesulu A, Dahl HH, du Sart D, Jenkins L, Lucas D, Bitner-Glindzicz M, Avraham KB, Brownstein Z, del Castillo I, Moreno F, Blin N, Pfister M, Sziklai I, Toth T, Kelley PM, Cohn ES, Van Maldergem L, Hilbert P, Roux AF, Mondain M, Hoefsloot LH, Cremers CW, Löppönen T, Löppönen H, Parving A, Gronskov K, Schrijver I, Roberson J, Gualandi F, Martini A, Lina-Granade G, Pallares-Ruiz N, Correia C, Fialho G, Cryns K, Hilgert N, Van de Heyning P, Nishimura CJ, Smith RJ, Van Camp G. Snoeckx RL, et al. Among authors: cohn es. Am J Hum Genet. 2005 Dec;77(6):945-57. doi: 10.1086/497996. Epub 2005 Oct 19. Am J Hum Genet. 2005. PMID: 16380907 Free PMC article.

10

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. 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.

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