Detalhe da pesquisa
1.
Unresolved questions regarding human hereditary deafness.
Oral Dis;
23(5): 551-558, 2017 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-27259978
2.
Mutations of SGO2 and CLDN14 collectively cause coincidental Perrault syndrome.
Clin Genet;
91(2): 328-332, 2017 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-27629923
3.
DFNB86, a novel autosomal recessive non-syndromic deafness locus on chromosome 16p13.3.
Clin Genet;
81(5): 498-500, 2012 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-22211675
4.
DFNB74, a novel autosomal recessive nonsyndromic hearing impairment locus on chromosome 12q14.2-q15.
Clin Genet;
76(3): 270-5, 2009 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-19650862
5.
Identities and frequencies of mutations of the otoferlin gene (OTOF) causing DFNB9 deafness in Pakistan.
Clin Genet;
75(3): 237-43, 2009 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-19250381
6.
USH1H, a novel locus for type I Usher syndrome, maps to chromosome 15q22-23.
Clin Genet;
75(1): 86-91, 2009 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-18505454
7.
A locus for autosomal dominant progressive non-syndromic hearing loss, DFNA27, is on chromosome 4q12-13.1.
Clin Genet;
73(4): 367-72, 2008 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-18279434
8.
Haplogroup analysis supports a pathogenic role for the 7510T>C mutation of mitochondrial tRNA(Ser(UCN)) in sensorineural hearing loss.
Clin Genet;
73(1): 50-4, 2008 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-18028453
9.
Identities, frequencies and origins of TMC1 mutations causing DFNB7/B11 deafness in Pakistan.
Clin Genet;
72(6): 546-50, 2007 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-17877751
10.
A novel mutation at the DFNA36 hearing loss locus reveals a critical function and potential genotype-phenotype correlation for amino acid-572 of TMC1.
Clin Genet;
71(2): 148-52, 2007 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-17250663
11.
Mutations of human TMHS cause recessively inherited non-syndromic hearing loss.
J Med Genet;
43(8): 634-40, 2006 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-16459341
12.
Mutations of ESPN cause autosomal recessive deafness and vestibular dysfunction.
J Med Genet;
41(8): 591-5, 2004 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-15286153
13.
Novel association of hypertrophic cardiomyopathy, sensorineural deafness, and a mutation in unconventional myosin VI (MYO6).
J Med Genet;
41(4): 309-14, 2004 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-15060111
14.
Genetic homogeneity and phenotypic variability among Ashkenazi Jews with Usher syndrome type III.
J Med Genet;
40(10): 767-72, 2003 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-14569126
15.
Distinctive audiometric profile associated with DFNB21 alleles of TECTA.
J Med Genet;
40(5): 360-3, 2003 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-12746400
16.
CDH23 mutation and phenotype heterogeneity: a profile of 107 diverse families with Usher syndrome and nonsyndromic deafness.
Am J Hum Genet;
71(2): 262-75, 2002 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-12075507
17.
Novel mutations of MYO15A associated with profound deafness in consanguineous families and moderately severe hearing loss in a patient with Smith-Magenis syndrome.
Hum Genet;
109(5): 535-41, 2001 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-11735029
18.
Myosin XVA expression in the pituitary and in other neuroendocrine tissues and tumors.
Am J Pathol;
159(4): 1375-82, 2001 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-11583965
19.
Audiologic aspects of the search for DFNA20: a gene causing late-onset, progressive, sensorineural hearing loss.
Ear Hear;
22(4): 279-88, 2001 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-11527035
20.
Mutations of the protocadherin gene PCDH15 cause Usher syndrome type 1F.
Am J Hum Genet;
69(1): 25-34, 2001 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-11398101