Detalhe da pesquisa
1.
Mainzer-Saldino syndrome is a ciliopathy caused by IFT140 mutations.
Am J Hum Genet;
90(5): 864-70, 2012 May 04.
Artigo
em Inglês
| MEDLINE
| ID: mdl-22503633
2.
TMEM126A is a mitochondrial located mRNA (MLR) protein of the mitochondrial inner membrane.
Biochim Biophys Acta;
1830(6): 3719-33, 2013 Jun.
Artigo
em Inglês
| MEDLINE
| ID: mdl-23500070
3.
TMEM126A, encoding a mitochondrial protein, is mutated in autosomal-recessive nonsyndromic optic atrophy.
Am J Hum Genet;
84(4): 493-8, 2009 Apr.
Artigo
em Inglês
| MEDLINE
| ID: mdl-19327736
4.
Spectrum of SPATA7 mutations in Leber congenital amaurosis and delineation of the associated phenotype.
Hum Mutat;
31(3): E1241-50, 2010 Mar.
Artigo
em Inglês
| MEDLINE
| ID: mdl-20104588
5.
Functional and clinical data of Best vitelliform macular dystrophy patients with mutations in the BEST1 gene.
Mol Vis;
15: 2960-72, 2009 Dec 31.
Artigo
em Inglês
| MEDLINE
| ID: mdl-20057903
6.
Population history and infrequent mutations: how old is a rare mutation? GUCY2D as a worked example.
Eur J Hum Genet;
16(1): 115-23, 2008 Jan.
Artigo
em Inglês
| MEDLINE
| ID: mdl-17684531
7.
Spectrum of NPHP6/CEP290 mutations in Leber congenital amaurosis and delineation of the associated phenotype.
Hum Mutat;
28(4): 416, 2007 Apr.
Artigo
em Inglês
| MEDLINE
| ID: mdl-17345604
8.
Mutations in LCA5 are an uncommon cause of Leber congenital amaurosis (LCA) type II.
Hum Mutat;
28(12): 1245, 2007 Dec.
Artigo
em Inglês
| MEDLINE
| ID: mdl-18000884
9.
Comprehensive survey of mutations in RP2 and RPGR in patients affected with distinct retinal dystrophies: genotype-phenotype correlations and impact on genetic counseling.
Hum Mutat;
28(1): 81-91, 2007 Jan.
Artigo
em Inglês
| MEDLINE
| ID: mdl-16969763
10.
A new insertion in the HIV-1 reverse transcriptase gene inducing major resistance to non-nucleoside reverse transcriptase inhibitors.
AIDS;
19(16): 1922-4, 2005 Nov 04.
Artigo
em Inglês
| MEDLINE
| ID: mdl-16227805
11.
Peptide insertions in reverse transcriptase pol gene of human immunodeficiency virus type 1 as a rare cause of persistent antiretroviral therapeutic failure.
Clin Microbiol Infect;
10(2): 127-36, 2004 Feb.
Artigo
em Inglês
| MEDLINE
| ID: mdl-14759237
12.
Union makes strength: a worldwide collaborative genetic and clinical study to provide a comprehensive survey of RD3 mutations and delineate the associated phenotype.
PLoS One;
8(1): e51622, 2013.
Artigo
em Inglês
| MEDLINE
| ID: mdl-23308101
13.
Intellectual disability associated with retinal dystrophy in the Xp11.3 deletion syndrome: ZNF674 on trial. Guilty or innocent?
Eur J Hum Genet;
20(3): 352-6, 2012 Mar.
Artigo
em Inglês
| MEDLINE
| ID: mdl-22126752
14.
Mutations in NMNAT1 cause Leber congenital amaurosis with early-onset severe macular and optic atrophy.
Nat Genet;
44(9): 975-7, 2012 Sep.
Artigo
em Inglês
| MEDLINE
| ID: mdl-22842229
15.
The spectrum of subclinical Best vitelliform macular dystrophy in subjects with mutations in BEST1 gene.
Invest Ophthalmol Vis Sci;
52(7): 4678-84, 2011 Jun 28.
Artigo
em Inglês
| MEDLINE
| ID: mdl-21436265