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Hereditary hearing loss: from human mutation to mechanism.
Lenz DR, Avraham KB. Lenz DR, et al. Hear Res. 2011 Nov;281(1-2):3-10. doi: 10.1016/j.heares.2011.05.021. Epub 2011 Jun 6. Hear Res. 2011. PMID: 21664957 Review.
Cell damage by excess CuZnSOD and Down's syndrome.
Groner Y, Elroy-Stein O, Avraham KB, Schickler M, Knobler H, Minc-Golomb D, Bar-Peled O, Yarom R, Rotshenker S. Groner Y, et al. Biomed Pharmacother. 1994;48(5-6):231-40. doi: 10.1016/0753-3322(94)90138-4. Biomed Pharmacother. 1994. PMID: 7999984
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. Science. 1998 Mar 20;279(5358):1950-4. doi: 10.1126/science.279.5358.1950. Science. 1998. PMID: 9506947
The genetics of hearing loss.
Ben-David O, Avraham KB. Ben-David O, et al. J Basic Clin Physiol Pharmacol. 1999;10(3):163-71. doi: 10.1515/jbcpp.1999.10.3.163. J Basic Clin Physiol Pharmacol. 1999. PMID: 10529903 Review. No abstract available.
Unconventional myosins and the genetics of hearing loss.
Friedman TB, Sellers JR, Avraham KB. Friedman TB, et al. 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.
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. 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
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. Hum Genet. 2000 Jan;106(1):50-7. doi: 10.1007/s004390051009. Hum Genet. 2000. PMID: 10982182
Auditory and vestibular mouse mutants: models for human deafness.
Ahituv N, Avraham KB. Ahituv N, et al. 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.
Genomic structure of the human unconventional myosin VI gene.
Ahituv N, Sobe T, Robertson NG, Morton CC, Taggart RT, Avraham KB. Ahituv N, et al. Gene. 2000 Dec 31;261(2):269-75. doi: 10.1016/s0378-1119(00)00535-7. Gene. 2000. PMID: 11167014
Human myosin VI is composed of 32 coding exons, spanning a genomic region of approximately 70 kb. Exon 30, containing a putative CKII site, was found to be alternatively spliced and appears only in fetal and adult human brain. ...
Human myosin VI is composed of 32 coding exons, spanning a genomic region of approximately 70 kb. Exon 30, containing a putative CKII …
Modifying with mitochondria.
Avraham KB. Avraham KB. Nat Genet. 2001 Feb;27(2):136-7. doi: 10.1038/84743. Nat Genet. 2001. PMID: 11175774
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