Detalhe da pesquisa
1.
TSPEAR variants are primarily associated with ectodermal dysplasia and tooth agenesis but not hearing loss: A novel cohort study.
Am J Med Genet A
; 185(8): 2417-2433, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-34042254
2.
Targeted broad-based genetic testing by next-generation sequencing informs diagnosis and facilitates management in patients with kidney diseases.
Nephrol Dial Transplant
; 36(2): 295-305, 2021 01 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-31738409
3.
Novel loss-of-function mutations in COCH cause autosomal recessive nonsyndromic hearing loss.
Hum Genet
; 139(12): 1565-1574, 2020 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-32562050
4.
A comparative analysis of genetic hearing loss phenotypes in European/American and Japanese populations.
Hum Genet
; 139(10): 1315-1323, 2020 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-32382995
5.
Comprehensive genetic testing in the clinical evaluation of 1119 patients with hearing loss.
Hum Genet
; 135(4): 441-450, 2016 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-26969326
6.
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
7.
A novel deletion in the RCA gene cluster causes atypical hemolytic uremic syndrome.
Nephrol Dial Transplant
; 26(2): 739-41, 2011 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-20974643
8.
Mutations in alternative pathway complement proteins in American patients with atypical hemolytic uremic syndrome.
Hum Mutat
; 31(6): E1445-60, 2010 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-20513133
9.
Is it Usher syndrome? Collaborative diagnosis and molecular genetics of patients with visual impairment and hearing loss.
Ophthalmic Genet
; 41(2): 151-158, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-32281467
10.
Recurrent atypical hemolytic uremic syndrome associated with factor I mutation in a living related renal transplant recipient.
Am J Kidney Dis
; 53(2): 321-6, 2009 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-18805611
11.
Genotype-phenotype correlations for SLC26A4-related deafness.
Hum Genet
; 122(5): 451-7, 2007 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-17690912
12.
Copy number variants are a common cause of non-syndromic hearing loss.
Genome Med
; 6(5): 37, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-24963352
13.
Phenotypic variability of patients homozygous for the GJB2 mutation 35delG cannot be explained by the influence of one major modifier gene.
Eur J Hum Genet
; 17(4): 517-24, 2009 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-18985073
14.
Identification of three novel TECTA mutations in Iranian families with autosomal recessive nonsyndromic hearing impairment at the DFNB21 locus.
Am J Med Genet A
; 143A(14): 1623-9, 2007 Jul 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-17431902
15.
Genetic association studies of cleft lip and/or palate with hypodontia outside the cleft region.
Cleft Palate Craniofac J
; 40(3): 274-9, 2003 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-12733956