Avraham KB - Search Results

1

Cytoplasmic mislocalization of POU3F4 due to novel mutations leads to deafness in humans and mice.

Parzefall T, Shivatzki S, Lenz DR, Rathkolb B, Ushakov K, Karfunkel D, Shapira Y, Wolf M, Mohr M, Wolf E, Sabrautzki S, de Angelis MH, Frydman M, Brownstein Z, Avraham KB. Parzefall T, et al. Among authors: avraham kb. Hum Mutat. 2013 Aug;34(8):1102-10. doi: 10.1002/humu.22339. Epub 2013 May 8. Hum Mutat. 2013. PMID: 23606368 Free PMC article.

2

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

3

Mutation in transcription factor POU4F3 associated with inherited progressive hearing loss in humans.

Vahava O, Morell R, Lynch ED, Weiss S, Kagan ME, Ahituv N, Morrow JE, Lee MK, Skvorak AB, Morton CC, Blumenfeld A, Frydman M, Friedman TB, King MC, Avraham KB. Vahava O, et al. Among authors: avraham kb. Science. 1998 Mar 20;279(5358):1950-4. doi: 10.1126/science.279.5358.1950. Science. 1998. PMID: 9506947

4

Clinical characterization of genetic hearing loss caused by a mutation in the POU4F3 transcription factor.

Frydman M, Vreugde S, Nageris BI, Weiss S, Vahava O, Avraham KB. Frydman M, et al. Among authors: avraham kb. Arch Otolaryngol Head Neck Surg. 2000 May;126(5):633-7. doi: 10.1001/archotol.126.5.633. Arch Otolaryngol Head Neck Surg. 2000. PMID: 10807331

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

Auditory and vestibular mouse mutants: models for human deafness.

Ahituv N, Avraham KB. Ahituv N, et al. Among authors: avraham kb. J Basic Clin Physiol Pharmacol. 2000;11(3):181-91. doi: 10.1515/jbcpp.2000.11.3.181. J Basic Clin Physiol Pharmacol. 2000. PMID: 11041382 Review.

7

Mouse models for human deafness: current tools for new fashions.

Ahituv N, Avraham KB. Ahituv N, et al. Among authors: avraham kb. Trends Mol Med. 2002 Sep;8(9):447-51. doi: 10.1016/s1471-4914(02)02388-2. Trends Mol Med. 2002. PMID: 12223317 Review.

8

The R245X mutation of PCDH15 in Ashkenazi Jewish children diagnosed with nonsyndromic hearing loss foreshadows retinitis pigmentosa.

Brownstein Z, Ben-Yosef T, Dagan O, Frydman M, Abeliovich D, Sagi M, Abraham FA, Taitelbaum-Swead R, Shohat M, Hildesheimer M, Friedman TB, Avraham KB. Brownstein Z, et al. Among authors: avraham kb. Pediatr Res. 2004 Jun;55(6):995-1000. doi: 10.1203/01.PDR.0000125258.58267.56. Epub 2004 Mar 17. Pediatr Res. 2004. PMID: 15028842

In the Ashkenazi Jewish population, the R245X mutation of the PCDH15 gene may be the most common cause of USH1 (Ben-Yosef T, Ness SL, Madeo AC, Bar-Lev A, Wolfman JH, Ahmed ZM, Desnick RK, Willner JP, Avraham KB, Ostrer H, Oddoux C, Griffith AJ, Friedman TB N Engl J …

In the Ashkenazi Jewish population, the R245X mutation of the PCDH15 gene may be the most common cause of USH1 (Ben-Yosef T, Ness SL, Madeo …

9

An ENU-induced mutation in AP-2alpha leads to middle ear and ocular defects in Doarad mice.

Ahituv N, Erven A, Fuchs H, Guy K, Ashery-Padan R, Williams T, de Angelis MH, Avraham KB, Steel KP. Ahituv N, et al. Among authors: avraham kb. Mamm Genome. 2004 Jun;15(6):424-32. doi: 10.1007/s00335-004-2334-z. Mamm Genome. 2004. PMID: 15181535

10

Transcription profiling of inner ears from Pou4f3(ddl/ddl) identifies Gfi1 as a target of the Pou4f3 deafness gene.

Hertzano R, Montcouquiol M, Rashi-Elkeles S, Elkon R, Yücel R, Frankel WN, Rechavi G, Möröy T, Friedman TB, Kelley MW, Avraham KB. Hertzano R, et al. Among authors: avraham kb. Hum Mol Genet. 2004 Sep 15;13(18):2143-53. doi: 10.1093/hmg/ddh218. Epub 2004 Jul 14. Hum Mol Genet. 2004. PMID: 15254021

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