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Results: 1 to 20 of 21

1.

The many faces of sensorineural hearing loss: one founder and two novel mutations affecting one family of mixed Jewish ancestry.

Behar DM, Davidov B, Brownstein Z, Ben-Yosef T, Avraham KB, Shohat M.

Genet Test Mol Biomarkers. 2014 Feb;18(2):123-6. doi: 10.1089/gtmb.2013.0328. Epub 2013 Dec 24.

PMID:
24367894
[PubMed - in process]
2.

Novel myosin mutations for hereditary hearing loss revealed by targeted genomic capture and massively parallel sequencing.

Brownstein Z, Abu-Rayyan A, Karfunkel-Doron D, Sirigu S, Davidov B, Shohat M, Frydman M, Houdusse A, Kanaan M, Avraham KB.

Eur J Hum Genet. 2014 Jun;22(6):768-75. doi: 10.1038/ejhg.2013.232. Epub 2013 Oct 9.

PMID:
24105371
[PubMed - in process]
3.

Advances in genetic diagnostics for hereditary hearing loss.

Idan N, Brownstein Z, Shivatzki S, Avraham KB.

J Basic Clin Physiol Pharmacol. 2013;24(3):165-70. doi: 10.1515/jbcpp-2013-0063. Review.

PMID:
24006325
[PubMed - indexed for MEDLINE]
4.

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.

Hum Mutat. 2013 Aug;34(8):1102-10. doi: 10.1002/humu.22339. Epub 2013 May 8.

PMID:
23606368
[PubMed - indexed for MEDLINE]
5.

The LINC complex is essential for hearing.

Horn HF, Brownstein Z, Lenz DR, Shivatzki S, Dror AA, Dagan-Rosenfeld O, Friedman LM, Roux KJ, Kozlov S, Jeang KT, Frydman M, Burke B, Stewart CL, Avraham KB.

J Clin Invest. 2013 Feb 1;123(2):740-50. doi: 10.1172/JCI66911. Epub 2013 Jan 25.

PMID:
23348741
[PubMed - indexed for MEDLINE]
Free PMC Article
6.

High-throughput sequencing to decipher the genetic heterogeneity of deafness.

Brownstein Z, Bhonker Y, Avraham KB.

Genome Biol. 2012 May 29;13(5):245. doi: 10.1186/gb-2012-13-5-245. Review.

PMID:
22647651
[PubMed - indexed for MEDLINE]
Free PMC Article
7.

Integration of human and mouse genetics reveals pendrin function in hearing and deafness.

Dror AA, Brownstein Z, Avraham KB.

Cell Physiol Biochem. 2011;28(3):535-44. doi: 10.1159/000335163. Epub 2011 Nov 18. Review.

PMID:
22116368
[PubMed - indexed for MEDLINE]
Free PMC Article
8.

Functional characterization of pendrin mutations found in the Israeli and Palestinian populations.

Dossena S, Nofziger C, Brownstein Z, Kanaan M, Avraham KB, Paulmichl M.

Cell Physiol Biochem. 2011;28(3):477-84. doi: 10.1159/000335109. Epub 2011 Nov 18.

PMID:
22116360
[PubMed - indexed for MEDLINE]
Free PMC Article
9.

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.

Genome Biol. 2011 Sep 14;12(9):R89. doi: 10.1186/gb-2011-12-9-r89.

PMID:
21917145
[PubMed - indexed for MEDLINE]
Free PMC Article
10.

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.

Nucleic Acids Res. 2011 Jan;39(Database issue):D793-9. doi: 10.1093/nar/gkq1167. Epub 2010 Nov 19.

PMID:
21097778
[PubMed - indexed for MEDLINE]
Free PMC Article
11.

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.

Am J Hum Genet. 2010 Jul 9;87(1):101-9. doi: 10.1016/j.ajhg.2010.05.011. Epub 2010 Jun 17.

PMID:
20602916
[PubMed - indexed for MEDLINE]
Free PMC Article
12.

Deafness genes in Israel: implications for diagnostics in the clinic.

Brownstein Z, Avraham KB.

Pediatr Res. 2009 Aug;66(2):128-34. doi: 10.1203/PDR.0b013e3181aabd7f. Review.

PMID:
19390476
[PubMed - indexed for MEDLINE]
13.

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

Brownstein ZN, Dror AA, Gilony D, Migirov L, Hirschberg K, Avraham KB.

Arch Otolaryngol Head Neck Surg. 2008 Apr;134(4):403-7. doi: 10.1001/archotol.134.4.403.

PMID:
18427006
[PubMed - indexed for MEDLINE]
14.

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.

Arch Otolaryngol Head Neck Surg. 2006 May;132(5):495-500.

PMID:
16702564
[PubMed - indexed for MEDLINE]
15.

Müllerian anomalies, hearing loss, and connexin 26 mutations.

Rabinson J, Orvieto R, Shapira A, Brownstein Z, Meltzer S, Tur-Kaspa I.

Fertil Steril. 2006 Jun;85(6):1824-5. Epub 2006 May 2.

PMID:
16650419
[PubMed - indexed for MEDLINE]
16.

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

Brownstein Z, Goldfarb A, Levi H, Frydman M, Avraham KB.

Arch Otolaryngol Head Neck Surg. 2006 Apr;132(4):416-24.

PMID:
16618911
[PubMed - indexed for MEDLINE]
17.

GJB2 mutations and degree of hearing loss: a multicenter study.

Snoeckx RL, Huygen PL, Feldmann D, Marlin S, Denoyelle F, Waligora J, Mueller-Malesinska M, Pollak A, Ploski R, Murgia A, Orzan E, Castorina P, Ambrosetti U, Nowakowska-Szyrwinska E, Bal J, Wiszniewski W, Janecke AR, Nekahm-Heis D, Seeman P, Bendova O, Kenna MA, Frangulov A, Rehm HL, Tekin M, Incesulu A, Dahl HH, du Sart D, Jenkins L, Lucas D, Bitner-Glindzicz M, Avraham KB, Brownstein Z, del Castillo I, Moreno F, Blin N, Pfister M, Sziklai I, Toth T, Kelley PM, Cohn ES, Van Maldergem L, Hilbert P, Roux AF, Mondain M, Hoefsloot LH, Cremers CW, Löppönen T, Löppönen H, Parving A, Gronskov K, Schrijver I, Roberson J, Gualandi F, Martini A, Lina-Granade G, Pallares-Ruiz N, Correia C, Fialho G, Cryns K, Hilgert N, Van de Heyning P, Nishimura CJ, Smith RJ, Van Camp G.

Am J Hum Genet. 2005 Dec;77(6):945-57. Epub 2005 Oct 19.

PMID:
16380907
[PubMed - indexed for MEDLINE]
Free PMC Article
18.

A novel deletion involving the connexin-30 gene, del(GJB6-d13s1854), found in trans with mutations in the GJB2 gene (connexin-26) in subjects with DFNB1 non-syndromic hearing impairment.

del Castillo FJ, Rodríguez-Ballesteros M, Alvarez A, Hutchin T, Leonardi E, de Oliveira CA, Azaiez H, Brownstein Z, Avenarius MR, Marlin S, Pandya A, Shahin H, Siemering KR, Weil D, Wuyts W, Aguirre LA, Martín Y, Moreno-Pelayo MA, Villamar M, Avraham KB, Dahl HH, Kanaan M, Nance WE, Petit C, Smith RJ, Van Camp G, Sartorato EL, Murgia A, Moreno F, del Castillo I.

J Med Genet. 2005 Jul;42(7):588-94. No abstract available.

PMID:
15994881
[PubMed - indexed for MEDLINE]
Free PMC Article
19.

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.

Pediatr Res. 2004 Jun;55(6):995-1000. Epub 2004 Mar 17.

PMID:
15028842
[PubMed - indexed for MEDLINE]
20.

Prevalence and evolutionary origins of the del(GJB6-D13S1830) mutation in the DFNB1 locus in hearing-impaired subjects: a multicenter study.

Del Castillo I, Moreno-Pelayo MA, Del Castillo FJ, Brownstein Z, Marlin S, Adina Q, Cockburn DJ, Pandya A, Siemering KR, Chamberlin GP, Ballana E, Wuyts W, Maciel-Guerra AT, Alvarez A, Villamar M, Shohat M, Abeliovich D, Dahl HH, Estivill X, Gasparini P, Hutchin T, Nance WE, Sartorato EL, Smith RJ, Van Camp G, Avraham KB, Petit C, Moreno F.

Am J Hum Genet. 2003 Dec;73(6):1452-8. Epub 2003 Oct 21.

PMID:
14571368
[PubMed - indexed for MEDLINE]
Free PMC Article

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