Detalhe da pesquisa
1.
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
2.
Nonsense mutations in SMPX, encoding a protein responsive to physical force, result in X-chromosomal hearing loss.
Am J Hum Genet
; 88(5): 621-7, 2011 May 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-21549336
3.
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
4.
Functional assessment of allelic variants in the SLC26A4 gene involved in Pendred syndrome and nonsyndromic EVA.
Proc Natl Acad Sci U S A
; 105(47): 18608-13, 2008 Nov 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-19017801
5.
Early detection of lysosomal diseases by screening of cases of idiopathic splenomegaly and/or thrombocytopenia with a next-generation sequencing gene panel.
JIMD Rep
; 51(1): 53-61, 2020 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-32071839
6.
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.
Artigo
em Inglês
| MEDLINE | ID: mdl-18285825
7.
Progressive hearing loss and vestibular dysfunction caused by a homozygous nonsense mutation in CLIC5.
Eur J Hum Genet
; 23(2): 189-94, 2015 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-24781754
8.
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