Avraham KB - Search Results

1

Genetic Heterogeneity and Core Clinical Features of NOG-Related-Symphalangism Spectrum Disorder.

Carlson RJ, Quesnel A, Wells D, Brownstein Z, Gilony D, Gulsuner S, Leppig KA, Avraham KB, King MC, Walsh T, Rubinstein J. Carlson RJ, et al. Among authors: avraham kb. Otol Neurotol. 2021 Sep 1;42(8):e1143-e1151. doi: 10.1097/MAO.0000000000003176. Otol Neurotol. 2021. PMID: 34049328 Free PMC article.

2

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

3

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

4

From flies' eyes to our ears: mutations in a human class III myosin cause progressive nonsyndromic hearing loss DFNB30.

Walsh T, Walsh V, Vreugde S, Hertzano R, Shahin H, Haika S, Lee MK, Kanaan M, King MC, Avraham KB. Walsh T, et al. Among authors: avraham kb. Proc Natl Acad Sci U S A. 2002 May 28;99(11):7518-23. doi: 10.1073/pnas.102091699. Proc Natl Acad Sci U S A. 2002. PMID: 12032315 Free PMC article.

5

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 …

6

Mutations in a novel isoform of TRIOBP that encodes a filamentous-actin binding protein are responsible for DFNB28 recessive nonsyndromic hearing loss.

Shahin H, Walsh T, Sobe T, Abu Sa'ed J, Abu Rayan A, Lynch ED, Lee MK, Avraham KB, King MC, Kanaan M. Shahin H, et al. Among authors: avraham kb. Am J Hum Genet. 2006 Jan;78(1):144-52. doi: 10.1086/499495. Epub 2005 Nov 21. Am J Hum Genet. 2006. PMID: 16385458 Free PMC article.

7

Genomic analysis of a heterogeneous Mendelian phenotype: multiple novel alleles for inherited hearing loss in the Palestinian population.

Walsh T, Abu Rayan A, Abu Sa'ed J, Shahin H, Shepshelovich J, Lee MK, Hirschberg K, Tekin M, Salhab W, Avraham KB, King MC, Kanaan M. Walsh T, et al. Among authors: avraham kb. Hum Genomics. 2006 Jan;2(4):203-11. doi: 10.1186/1479-7364-2-4-203. Hum Genomics. 2006. PMID: 16460646 Free PMC article.

8

Chromosomal mapping and phenotypic characterization of hereditary otosclerosis linked to the OTSC4 locus.

Brownstein Z, Goldfarb A, Levi H, Frydman M, Avraham KB. Brownstein Z, et al. Among authors: avraham kb. Arch Otolaryngol Head Neck Surg. 2006 Apr;132(4):416-24. doi: 10.1001/archotol.132.4.416. Arch Otolaryngol Head Neck Surg. 2006. PMID: 16618911

9

Connexin-associated deafness and speech perception outcome of cochlear implantation.

Taitelbaum-Swead R, Brownstein Z, Muchnik C, Kishon-Rabin L, Kronenberg J, Megirov L, Frydman M, Hildesheimer M, Avraham KB. Taitelbaum-Swead R, et al. Among authors: avraham kb. Arch Otolaryngol Head Neck Surg. 2006 May;132(5):495-500. doi: 10.1001/archotol.132.5.495. Arch Otolaryngol Head Neck Surg. 2006. PMID: 16702564

10

A novel SLC26A4 (PDS) deafness mutation retained in the endoplasmic reticulum.

Brownstein ZN, Dror AA, Gilony D, Migirov L, Hirschberg K, Avraham KB. Brownstein ZN, et al. Among authors: avraham kb. Arch Otolaryngol Head Neck Surg. 2008 Apr;134(4):403-7. doi: 10.1001/archotol.134.4.403. Arch Otolaryngol Head Neck Surg. 2008. PMID: 18427006

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