Detalhe da pesquisa
1.
Genetic etiology of non-syndromic hearing loss in Europe.
Hum Genet
; 141(3-4): 683-696, 2022 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-35044523
2.
Perrault syndrome with neurological features in a compound heterozygote for two TWNK mutations: overlap of TWNK-related recessive disorders.
J Transl Med
; 17(1): 290, 2019 08 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-31455392
3.
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
4.
Mutations in PRPS1 causing syndromic or nonsyndromic hearing impairment: intrafamilial phenotypic variation complicates genetic counseling.
Pediatr Res
; 78(1): 97-102, 2015 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-25785835
5.
Primary T-cell immunodeficiency with functional revertant somatic mosaicism in CD247.
J Allergy Clin Immunol
; 139(1): 347-349.e8, 2017 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27555457
6.
Novel Pathogenic Variants in the Gene Encoding Stereocilin (STRC) Causing Non-Syndromic Moderate Hearing Loss in Spanish and Argentinean Subjects.
Biomedicines
; 11(11)2023 Oct 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-38001944
7.
Evolution of CRISPR-associated endonucleases as inferred from resurrected proteins.
Nat Microbiol
; 8(1): 77-90, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36593295
8.
Genetic Evaluation of Prelingual Hearing Impairment: Recommendations of an European Network for Genetic Hearing Impairment.
Audiol Res
; 13(3): 341-346, 2023 May 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-37218840
9.
Novel Pathogenic Variants in PJVK, the Gene Encoding Pejvakin, in Subjects with Autosomal Recessive Non-Syndromic Hearing Impairment and Auditory Neuropathy Spectrum Disorder.
Genes (Basel)
; 13(1)2022 01 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-35052489
10.
DFNA8/12 caused by TECTA mutations is the most identified subtype of nonsyndromic autosomal dominant hearing loss.
Hum Mutat
; 32(7): 825-34, 2011 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-21520338
11.
Gly111Ser mutation in CD8A gene causing CD8 immunodeficiency is found in Spanish Gypsies.
Mol Immunol
; 45(2): 479-84, 2008 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-17658607
12.
A multicenter study on the prevalence and spectrum of mutations in the otoferlin gene (OTOF) in subjects with nonsyndromic hearing impairment and auditory neuropathy.
Hum Mutat
; 29(6): 823-31, 2008 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-18381613
13.
A Spanish sporadic case of deafness-dystonia (Mohr-Tranebjaerg) syndrome with a novel mutation in the gene encoding TIMM8a, a component of the mitochondrial protein translocase complexes.
Neuromuscul Disord
; 18(12): 979-81, 2008 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-18952432
14.
A deletion involving the connexin 30 gene in nonsyndromic hearing impairment.
N Engl J Med
; 346(4): 243-9, 2002 Jan 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-11807148
15.
Auditory neuropathy in patients carrying mutations in the otoferlin gene (OTOF).
Hum Mutat
; 22(6): 451-6, 2003 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-14635104
16.
Genetic and phenotypic heterogeneity in two novel cases of Waardenburg syndrome type IV.
Am J Med Genet A
; 149A(10): 2296-302, 2009 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-19764030
17.
A de novo missense mutation in the gene encoding the SOX10 transcription factor in a Spanish sporadic case of Waardenburg syndrome type IV.
Am J Med Genet A
; 146A(8): 1032-7, 2008 Apr 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-18348274
18.
A novel splice-site mutation in the GJB2 gene causing mild postlingual hearing impairment.
PLoS One
; 8(9): e73566, 2013.
Artigo
em Inglês
| MEDLINE | ID: mdl-24039984
19.
A leaky mutation in CD3D differentially affects αß and γδ T cells and leads to a Tαß-Tγδ+B+NK+ human SCID.
J Clin Invest
; 121(10): 3872-6, 2011 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-21926461
20.
High prevalence of the W24X mutation in the gene encoding connexin-26 (GJB2) in Spanish Romani (gypsies) with autosomal recessive non-syndromic hearing loss.
Am J Med Genet A
; 137A(3): 255-8, 2005 Sep 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-16088916