Detalhe da pesquisa
1.
Dysfunction of GRAP, encoding the GRB2-related adaptor protein, is linked to sensorineural hearing loss.
Proc Natl Acad Sci U S A
; 116(4): 1347-1352, 2019 01 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-30610177
2.
FOXF2 is required for cochlear development in humans and mice.
Hum Mol Genet
; 28(8): 1286-1297, 2019 04 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-30561639
3.
Novel variant p.E269K confirms causative role of PLS1 mutations in autosomal dominant hearing loss.
Clin Genet
; 96(6): 575-578, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31432506
4.
ROR1 is essential for proper innervation of auditory hair cells and hearing in humans and mice.
Proc Natl Acad Sci U S A
; 113(21): 5993-8, 2016 May 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-27162350
5.
MPZL2 is a novel gene associated with autosomal recessive nonsyndromic moderate hearing loss.
Hum Genet
; 137(6-7): 479-486, 2018 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-29982980
6.
FAM65B is a membrane-associated protein of hair cell stereocilia required for hearing.
Proc Natl Acad Sci U S A
; 111(27): 9864-8, 2014 Jul 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-24958875
7.
Comprehensive analysis via exome sequencing uncovers genetic etiology in autosomal recessive nonsyndromic deafness in a large multiethnic cohort.
Genet Med
; 18(4): 364-71, 2016 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-26226137
8.
Characterization of ANKRD11 mutations in humans and mice related to KBG syndrome.
Hum Genet
; 134(2): 181-90, 2015 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-25413698
9.
Mutations in OTOGL, encoding the inner ear protein otogelin-like, cause moderate sensorineural hearing loss.
Am J Hum Genet
; 91(5): 872-82, 2012 11 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-23122586
10.
Novel mutations confirm that COL11A2 is responsible for autosomal recessive non-syndromic hearing loss DFNB53.
Mol Genet Genomics
; 290(4): 1327-34, 2015 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-25633957
11.
Whole-exome sequencing and its impact in hereditary hearing loss.
Genet Res (Camb)
; 97: e4, 2015 Mar 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-25825321
12.
De novo ACTG2 mutations cause congenital distended bladder, microcolon, and intestinal hypoperistalsis.
Hum Genet
; 133(6): 737-42, 2014 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-24337657
13.
DNASE1L3 mutations in hypocomplementemic urticarial vasculitis syndrome.
Arthritis Rheum
; 65(8): 2183-9, 2013 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-23666765
14.
Relationship of type 1 diabetes to ancestral proportions and HLA DR/DQ alleles in a sample of the admixed Cuban population.
Ann Hum Biol
; 37(6): 778-88, 2010 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-20569042
15.
Ripor2 is involved in auditory hair cell stereociliary bundle structure and orientation.
J Mol Med (Berl)
; 96(11): 1227-1238, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30280293
16.
Celiac disease associated antibodies in persons with latent autoimmune diabetes of adult and type 2 diabetes.
Autoimmunity
; 40(2): 103-7, 2007 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-17364501
17.
GPSM2 mutations in Chudley-McCullough syndrome.
Am J Med Genet A
; 158A(11): 2972-3, 2012 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-22987632
18.
Enteroviruses and causality of type 1 diabetes: how close are we?
Pediatr Diabetes
; 13(1): 92-9, 2012 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-22011004
19.
Effect of standard nicotinamide in the prevention of type 1 diabetes in first degree relatives of persons with type 1 diabetes.
Autoimmunity
; 39(4): 333-40, 2006 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-16891222
20.
Na/Ca exchanger overexpression induces endoplasmic reticulum-related apoptosis and caspase-12 activation in insulin-releasing BRIN-BD11 cells.
Diabetes
; 51(6): 1815-24, 2002 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-12031969