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Page 1
Molecular Features of SLC26A4 Common Variant p.L117F.
Matulevičius A, Bernardinelli E, Brownstein Z, Roesch S, Avraham KB, Dossena S. Matulevičius A, et al. Among authors: avraham kb. J Clin Med. 2022 Sep 22;11(19):5549. doi: 10.3390/jcm11195549. J Clin Med. 2022. PMID: 36233414 Free PMC article.
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 …
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
Calcium oxalate stone formation in the inner ear as a result of an Slc26a4 mutation.
Dror AA, Politi Y, Shahin H, Lenz DR, Dossena S, Nofziger C, Fuchs H, Hrabé de Angelis M, Paulmichl M, Weiner S, Avraham KB. Dror AA, et al. Among authors: avraham kb. J Biol Chem. 2010 Jul 9;285(28):21724-35. doi: 10.1074/jbc.M110.120188. Epub 2010 May 4. J Biol Chem. 2010. PMID: 20442411 Free PMC article.
Genomic duplication and overexpression of TJP2/ZO-2 leads to altered expression of apoptosis genes in progressive nonsyndromic hearing loss DFNA51.
Walsh T, Pierce SB, Lenz DR, Brownstein Z, Dagan-Rosenfeld O, Shahin H, Roeb W, McCarthy S, Nord AS, Gordon CR, Ben-Neriah Z, Sebat J, Kanaan M, Lee MK, Frydman M, King MC, Avraham KB. Walsh T, et al. Among authors: avraham kb. Am J Hum Genet. 2010 Jul 9;87(1):101-9. doi: 10.1016/j.ajhg.2010.05.011. Epub 2010 Jun 17. Am J Hum Genet. 2010. PMID: 20602916 Free PMC article.
SPIKE: a database of highly curated human signaling pathways.
Paz A, Brownstein Z, Ber Y, Bialik S, David E, Sagir D, Ulitsky I, Elkon R, Kimchi A, Avraham KB, Shiloh Y, Shamir R. Paz A, et al. Among authors: avraham kb. Nucleic Acids Res. 2011 Jan;39(Database issue):D793-9. doi: 10.1093/nar/gkq1167. Epub 2010 Nov 19. Nucleic Acids Res. 2011. PMID: 21097778 Free PMC article.
Targeted genomic capture and massively parallel sequencing to identify genes for hereditary hearing loss in Middle Eastern families.
Brownstein Z, Friedman LM, Shahin H, Oron-Karni V, Kol N, Abu Rayyan A, Parzefall T, Lev D, Shalev S, Frydman M, Davidov B, Shohat M, Rahile M, Lieberman S, Levy-Lahad E, Lee MK, Shomron N, King MC, Walsh T, Kanaan M, Avraham KB. Brownstein Z, et al. Among authors: avraham kb. Genome Biol. 2011 Sep 14;12(9):R89. doi: 10.1186/gb-2011-12-9-r89. Genome Biol. 2011. PMID: 21917145 Free PMC article.
187 results