Detalles de la búsqueda
1.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-31455392
2.
Mutations of the gene encoding otogelin are a cause of autosomal-recessive nonsyndromic moderate hearing impairment.
Am J Hum Genet
; 91(5): 883-9, 2012 11 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-23122587
3.
Mutations in PRPS1 causing syndromic or nonsyndromic hearing impairment: intrafamilial phenotypic variation complicates genetic counseling.
Pediatr Res
; 78(1): 97-102, 2015 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-25785835
4.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-38001944
5.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-35052489
6.
A Novel Truncating Mutation in HOMER2 Causes Nonsyndromic Progressive DFNA68 Hearing Loss in a Spanish Family.
Genes (Basel)
; 12(3)2021 03 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-33809266
7.
Insights into the pathophysiology of DFNA10 hearing loss associated with novel EYA4 variants.
Sci Rep
; 10(1): 6213, 2020 04 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-32277154
8.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-18381613
9.
A mutational analysis of the SLC26A4 gene in Spanish hearing-impaired families provides new insights into the genetic causes of Pendred syndrome and DFNB4 hearing loss.
Eur J Hum Genet
; 16(8): 888-96, 2008 Aug.
Artículo
en Inglés
| MEDLINE | ID: mdl-18285825
10.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-18952432
11.
Parental Mosaicism in PAX6 Causes Intra-Familial Variability: Implications for Genetic Counseling of Congenital Aniridia and Microphthalmia.
Front Genet
; 9: 479, 2018.
Artículo
en Inglés
| MEDLINE | ID: mdl-30386378
12.
A deletion involving the connexin 30 gene in nonsyndromic hearing impairment.
N Engl J Med
; 346(4): 243-9, 2002 Jan 24.
Artículo
en Inglés
| MEDLINE | ID: mdl-11807148
13.
Genetic and phenotypic heterogeneity in two novel cases of Waardenburg syndrome type IV.
Am J Med Genet A
; 149A(10): 2296-302, 2009 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-19764030
14.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-18348274
15.
A novel splice-site mutation in the GJB2 gene causing mild postlingual hearing impairment.
PLoS One
; 8(9): e73566, 2013.
Artículo
en Inglés
| MEDLINE | ID: mdl-24039984
16.
Hypothesizing an ancient Greek origin of the GJB2 35delG mutation: can science meet history?
Genet Test Mol Biomarkers
; 14(2): 183-7, 2010 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-20073550
17.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-16088916
18.
Prevalence and evolutionary origins of the del(GJB6-D13S1830) mutation in the DFNB1 locus in hearing-impaired subjects: a multicenter study.
Am J Hum Genet
; 73(6): 1452-8, 2003 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-14571368
19.
Novel mutation in the gene encoding the GATA3 transcription factor in a Spanish familial case of hypoparathyroidism, deafness, and renal dysplasia (HDR) syndrome with female genital tract malformations.
Am J Med Genet A
; 143A(7): 757-62, 2007 Apr 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-17309062
20.
A novel mutation in the gene encoding TIMM8a, a component of the mitochondrial protein translocase complexes, in a Spanish familial case of deafness-dystonia (Mohr-Tranebjaerg) syndrome.
Am J Med Genet A
; 140(4): 392-7, 2006 Feb 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-16411215