Avraham KB - Search Results

1

Myo15 function is distinct from Myo6, Myo7a and pirouette genes in development of cochlear stereocilia.

Karolyi IJ, Probst FJ, Beyer L, Odeh H, Dootz G, Cha KB, Martin DM, Avraham KB, Kohrman D, Dolan DF, Raphael Y, Camper SA. Karolyi IJ, et al. Among authors: avraham kb. Hum Mol Genet. 2003 Nov 1;12(21):2797-805. doi: 10.1093/hmg/ddg308. Epub 2003 Sep 9. Hum Mol Genet. 2003. PMID: 12966030

2

The mouse Snell's waltzer deafness gene encodes an unconventional myosin required for structural integrity of inner ear hair cells.

Avraham KB, Hasson T, Steel KP, Kingsley DM, Russell LB, Mooseker MS, Copeland NG, Jenkins NA. Avraham KB, et al. Nat Genet. 1995 Dec;11(4):369-75. doi: 10.1038/ng1295-369. Nat Genet. 1995. PMID: 7493015

3

Characterization of unconventional MYO6, the human homologue of the gene responsible for deafness in Snell's waltzer mice.

Avraham KB, Hasson T, Sobe T, Balsara B, Testa JR, Skvorak AB, Morton CC, Copeland NG, Jenkins NA. Avraham KB, et al. Hum Mol Genet. 1997 Aug;6(8):1225-31. doi: 10.1093/hmg/6.8.1225. Hum Mol Genet. 1997. PMID: 9259267

4

Unconventional myosins and the genetics of hearing loss.

Friedman TB, Sellers JR, Avraham KB. Friedman TB, et al. Among authors: avraham kb. Am J Med Genet. 1999 Sep 24;89(3):147-57. doi: 10.1002/(sici)1096-8628(19990924)89:3<147::aid-ajmg5>3.0.co;2-6. Am J Med Genet. 1999. PMID: 10704189 Review.

5

The prevalence and expression of inherited connexin 26 mutations associated with nonsyndromic hearing loss in the Israeli population.

Sobe T, Vreugde S, Shahin H, Berlin M, Davis N, Kanaan M, Yaron Y, Orr-Urtreger A, Frydman M, Shohat M, Avraham KB. Sobe T, et al. Among authors: avraham kb. Hum Genet. 2000 Jan;106(1):50-7. doi: 10.1007/s004390051009. Hum Genet. 2000. PMID: 10982182

6

Connexin 31 (GJB3) is expressed in the peripheral and auditory nerves and causes neuropathy and hearing impairment.

López-Bigas N, Olivé M, Rabionet R, Ben-David O, Martínez-Matos JA, Bravo O, Banchs I, Volpini V, Gasparini P, Avraham KB, Ferrer I, Arbonés ML, Estivill X. López-Bigas N, et al. Among authors: avraham kb. Hum Mol Genet. 2001 Apr 15;10(9):947-52. doi: 10.1093/hmg/10.9.947. Hum Mol Genet. 2001. PMID: 11309368

7

MYO6, the human homologue of the gene responsible for deafness in Snell's waltzer mice, is mutated in autosomal dominant nonsyndromic hearing loss.

Melchionda S, Ahituv N, Bisceglia L, Sobe T, Glaser F, Rabionet R, Arbones ML, Notarangelo A, Di Iorio E, Carella M, Zelante L, Estivill X, Avraham KB, Gasparini P. Melchionda S, et al. Among authors: avraham kb. Am J Hum Genet. 2001 Sep;69(3):635-40. doi: 10.1086/323156. Epub 2001 Jul 20. Am J Hum Genet. 2001. PMID: 11468689 Free PMC article.

8

Beethoven, a mouse model for dominant, progressive hearing loss DFNA36.

Vreugde S, Erven A, Kros CJ, Marcotti W, Fuchs H, Kurima K, Wilcox ER, Friedman TB, Griffith AJ, Balling R, Hrabé De Angelis M, Avraham KB, Steel KP. Vreugde S, et al. Among authors: avraham kb. Nat Genet. 2002 Mar;30(3):257-8. doi: 10.1038/ng848. Epub 2002 Feb 19. Nat Genet. 2002. PMID: 11850623

9

Genetics of congenital deafness in the Palestinian population: multiple connexin 26 alleles with shared origins in the Middle East.

Shahin H, Walsh T, Sobe T, Lynch E, King MC, Avraham KB, Kanaan M. Shahin H, et al. Among authors: avraham kb. Hum Genet. 2002 Mar;110(3):284-9. doi: 10.1007/s00439-001-0674-2. Epub 2002 Feb 8. Hum Genet. 2002. PMID: 11935342

10

Multiple mutations of MYO1A, a cochlear-expressed gene, in sensorineural hearing loss.

Donaudy F, Ferrara A, Esposito L, Hertzano R, Ben-David O, Bell RE, Melchionda S, Zelante L, Avraham KB, Gasparini P. Donaudy F, et al. Among authors: avraham kb. Am J Hum Genet. 2003 Jun;72(6):1571-7. doi: 10.1086/375654. Epub 2003 May 6. Am J Hum Genet. 2003. PMID: 12736868 Free PMC article.

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