Detalhe da pesquisa
1.
A murine model for the del(GJB6-D13S1830) deletion recapitulating the phenotype of human DFNB1 hearing impairment: generation and functional and histopathological study.
BMC Genomics
; 25(1): 359, 2024 Apr 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-38605287
2.
Genotyping of the rs1800440 Polymorphism in CYP1B1 Gene and the rs9258883 Polymorphism in HLA-B Gene in a Spanish Cohort of 223 Patients with Frontal Fibrosing Alopecia.
Acta Derm Venereol
; 103: adv9604, 2023 Sep 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-37721356
3.
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.
Artigo
em Inglês
| MEDLINE | ID: mdl-23122587
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.
Mutations in the gene encoding pejvakin, a newly identified protein of the afferent auditory pathway, cause DFNB59 auditory neuropathy.
Nat Genet
; 38(7): 770-8, 2006 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-16804542
6.
Hearing is normal without connexin30.
J Neurosci
; 33(2): 430-4, 2013 Jan 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-23303923
7.
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
8.
Clinical Outcomes of Patients with Chronic Neuropathic Form of Gaucher Disease in the Spanish Real-World Setting: A Retrospective Study.
Biomedicines
; 11(10)2023 Oct 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-37893235
9.
Consortin, a trans-Golgi network cargo receptor for the plasma membrane targeting and recycling of connexins.
Hum Mol Genet
; 19(2): 262-75, 2010 Jan 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-19864490
10.
Development and validation of a sequential two-step algorithm for the screening of individuals with potential polycythaemia vera.
Sci Rep
; 11(1): 209, 2021 01 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-33420222
11.
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
12.
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
13.
DFNB1 Non-syndromic Hearing Impairment: Diversity of Mutations and Associated Phenotypes.
Front Mol Neurosci
; 10: 428, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-29311818
14.
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
15.
Is granulomatous mastitis a localized form of hidradenitis suppurativa?
Eur J Dermatol
; 19(5): 513-4, 2009.
Artigo
em Inglês
| MEDLINE | ID: mdl-19527995
16.
Contribution of mutation load to the intrafamilial genetic heterogeneity in a large cohort of Spanish retinal dystrophies families.
Invest Ophthalmol Vis Sci
; 55(11): 7562-71, 2014 Oct 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-25342620
17.
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
18.
Genetics of isolated auditory neuropathies.
Front Biosci (Landmark Ed)
; 17(4): 1251-65, 2012 01 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-22201801
19.
The DFNB1 subtype of autosomal recessive non-syndromic hearing impairment.
Front Biosci (Landmark Ed)
; 16(9): 3252-74, 2011 06 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-21622233
20.
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.
Artigo
em Inglês
| MEDLINE | ID: mdl-14571368