Detalhe da pesquisa
1.
Genomic analysis of inherited hearing loss in the Palestinian population.
Proc Natl Acad Sci U S A
; 117(33): 20070-20076, 2020 08 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-32747562
2.
PNPT1, MYO15A, PTPRQ, and SLC12A2-associated genetic and phenotypic heterogeneity among hearing impaired assortative mating families in Southern India.
Ann Hum Genet
; 86(1): 1-13, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34374074
3.
Autosomal dominant non-syndromic hearing loss maps to DFNA33 (13q34) and co-segregates with splice and frameshift variants in ATP11A, a phospholipid flippase gene.
Hum Genet
; 141(3-4): 431-444, 2022 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-35278131
4.
Spectrum of genes for inherited hearing loss in the Israeli Jewish population, including the novel human deafness gene ATOH1.
Clin Genet
; 98(4): 353-364, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-33111345
5.
[INNOVATIONS IN RESEARCH OF HEREDITARY DEAFNESS].
Harefuah
; 159(1): 117-122, 2020 Feb.
Artigo
em Hebraico
| MEDLINE | ID: mdl-32048492
6.
Consensus interpretation of the p.Met34Thr and p.Val37Ile variants in GJB2 by the ClinGen Hearing Loss Expert Panel.
Genet Med
; 21(11): 2442-2452, 2019 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-31160754
7.
Cytoplasmic mislocalization of POU3F4 due to novel mutations leads to deafness in humans and mice.
Hum Mutat
; 34(8): 1102-10, 2013 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-23606368
8.
Genomic duplication and overexpression of TJP2/ZO-2 leads to altered expression of apoptosis genes in progressive nonsyndromic hearing loss DFNA51.
Am J Hum Genet
; 87(1): 101-9, 2010 Jul 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-20602916
9.
SPIKE: a database of highly curated human signaling pathways.
Nucleic Acids Res
; 39(Database issue): D793-9, 2011 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-21097778
10.
Molecular Features of SLC26A4 Common Variant p.L117F.
J Clin Med
; 11(19)2022 Sep 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-36233414
11.
Integration of human and mouse genetics reveals pendrin function in hearing and deafness.
Cell Physiol Biochem
; 28(3): 535-44, 2011.
Artigo
em Inglês
| MEDLINE | ID: mdl-22116368
12.
Functional characterization of pendrin mutations found in the Israeli and Palestinian populations.
Cell Physiol Biochem
; 28(3): 477-84, 2011.
Artigo
em Inglês
| MEDLINE | ID: mdl-22116360
13.
Genetic Heterogeneity and Core Clinical Features of NOG-Related-Symphalangism Spectrum Disorder.
Otol Neurotol
; 42(8): e1143-e1151, 2021 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34049328
14.
A synonymous variant in MYO15A enriched in the Ashkenazi Jewish population causes autosomal recessive hearing loss due to abnormal splicing.
Eur J Hum Genet
; 29(6): 988-997, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33398081
15.
Deafness genes in Israel: implications for diagnostics in the clinic.
Pediatr Res
; 66(2): 128-34, 2009 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-19390476
16.
Genetics of hearing loss in the Arab population of Northern Israel.
Eur J Hum Genet
; 26(12): 1840-1847, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-30139988
17.
Chromosomal mapping and phenotypic characterization of hereditary otosclerosis linked to the OTSC4 locus.
Arch Otolaryngol Head Neck Surg
; 132(4): 416-24, 2006 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-16618911
18.
Connexin-associated deafness and speech perception outcome of cochlear implantation.
Arch Otolaryngol Head Neck Surg
; 132(5): 495-500, 2006 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-16702564
19.
Apparent phenotypic anticipation in autosomal dominant connexin 26 deafness.
J Basic Clin Physiol Pharmacol
; 25(3): 289-92, 2014 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-25153233
20.
The many faces of sensorineural hearing loss: one founder and two novel mutations affecting one family of mixed Jewish ancestry.
Genet Test Mol Biomarkers
; 18(2): 123-6, 2014 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-24367894