Kimberling WJ - Search Results

1

Autosomal-dominant, prelingual, nonprogressive sensorineural hearing loss: localization of the gene (DFNA8) to chromosome 11q by linkage in an Austrian family.

Kirschhofer K, Kenyon JB, Hoover DM, Franz P, Weipoltshammer K, Wachtler F, Kimberling WJ. Kirschhofer K, et al. Among authors: kimberling wj. Cytogenet Cell Genet. 1998;82(1-2):126-30. doi: 10.1159/000015086. Cytogenet Cell Genet. 1998. PMID: 9763681

2

Reassignment of a cancer family syndrome gene to chromosome 18.

Boman BM, Lynch HT, Kimberling WJ, Wildrick DM. Boman BM, et al. Among authors: kimberling wj. Cancer Genet Cytogenet. 1988 Aug;34(1):153-4. doi: 10.1016/0165-4608(88)90182-3. Cancer Genet Cytogenet. 1988. PMID: 3395989 No abstract available.

3

Hearing loss in Usher syndrome type II is nonprogressive.

Reisser CF, Kimberling WJ, Otterstedde CR. Reisser CF, et al. Among authors: kimberling wj. Ann Otol Rhinol Laryngol. 2002 Dec;111(12 Pt 1):1108-11. doi: 10.1177/000348940211101208. Ann Otol Rhinol Laryngol. 2002. PMID: 12498372

4

Loss-of-function mutations of ILDR1 cause autosomal-recessive hearing impairment DFNB42.

Borck G, Ur Rehman A, Lee K, Pogoda HM, Kakar N, von Ameln S, Grillet N, Hildebrand MS, Ahmed ZM, Nürnberg G, Ansar M, Basit S, Javed Q, Morell RJ, Nasreen N, Shearer AE, Ahmad A, Kahrizi K, Shaikh RS, Ali RA, Khan SN, Goebel I, Meyer NC, Kimberling WJ, Webster JA, Stephan DA, Schiller MR, Bahlo M, Najmabadi H, Gillespie PG, Nürnberg P, Wollnik B, Riazuddin S, Smith RJ, Ahmad W, Müller U, Hammerschmidt M, Friedman TB, Riazuddin S, Leal SM, Ahmad J, Kubisch C. Borck G, et al. Among authors: kimberling wj. Am J Hum Genet. 2011 Feb 11;88(2):127-37. doi: 10.1016/j.ajhg.2010.12.011. Epub 2011 Jan 20. Am J Hum Genet. 2011. PMID: 21255762 Free PMC article.

5

Variable hearing impairment in a DFNB2 family with a novel MYO7A missense mutation.

Hildebrand MS, Thorne NP, Bromhead CJ, Kahrizi K, Webster JA, Fattahi Z, Bataejad M, Kimberling WJ, Stephan D, Najmabadi H, Bahlo M, Smith RJ. Hildebrand MS, et al. Among authors: kimberling wj. Clin Genet. 2010 Jun;77(6):563-71. doi: 10.1111/j.1399-0004.2009.01344.x. Epub 2010 Feb 4. Clin Genet. 2010. PMID: 20132242 Free PMC article.

6

Refined localization of the branchiootorenal syndrome gene by linkage and haplotype analysis.

Ni L, Wagner MJ, Kimberling WJ, Pembrey ME, Grundfast KM, Kumar S, Daiger SP, Wells DE, Johnson K, Smith RJ. Ni L, et al. Among authors: kimberling wj. Am J Med Genet. 1994 Jun 1;51(2):176-84. doi: 10.1002/ajmg.1320510222. Am J Med Genet. 1994. PMID: 8092199

7

Genetic heterogeneity of Usher syndrome type II.

Pieke Dahl S, Kimberling WJ, Gorin MB, Weston MD, Furman JM, Pikus A, Möller C. Pieke Dahl S, et al. Among authors: kimberling wj. J Med Genet. 1993 Oct;30(10):843-8. doi: 10.1136/jmg.30.10.843. J Med Genet. 1993. PMID: 7901420 Free PMC article.

8

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

9

Clinical and genetic features of nonsyndromic autosomal dominant sensorineural hearing loss: KCNQ4 is a gene responsible in Japanese.

Akita J, Abe S, Shinkawa H, Kimberling WJ, Usami S. Akita J, et al. Among authors: kimberling wj. J Hum Genet. 2001;46(7):355-61. doi: 10.1007/s100380170053. J Hum Genet. 2001. PMID: 11450843

10

Sensorineural hearing loss associated with the mitochondrial mutations.

Usami S, Abe S, Akita J, Shinkawa H, Kimberling WJ. Usami S, et al. Among authors: kimberling wj. Adv Otorhinolaryngol. 2000;56:203-11. doi: 10.1159/000059087. Adv Otorhinolaryngol. 2000. PMID: 10868237 Review. No abstract available.

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