Detalhe da pesquisa
1.
Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling.
Cell
; 150(3): 533-48, 2012 Aug 03.
Artigo
Inglês
| MEDLINE | ID: mdl-22863007
2.
Comparative analysis of in-silico tools in identifying pathogenic variants in dominant inherited retinal diseases.
Hum Mol Genet
; 33(11): 945-957, 2024 May 18.
Artigo
Inglês
| MEDLINE | ID: mdl-38453143
3.
Systematic assessment of the contribution of structural variants to inherited retinal diseases.
Hum Mol Genet
; 32(12): 2005-2015, 2023 06 05.
Artigo
Inglês
| MEDLINE | ID: mdl-36811936
4.
Olfactory Dysfunction in a Mexican Population Outside of COVID-19 Pandemic: Prevalence and Associated Factors (the OLFAMEX Study).
Curr Allergy Asthma Rep
; 20(12): 78, 2020 11 08.
Artigo
Inglês
| MEDLINE | ID: mdl-33161494
5.
Mutations in POMGNT1 cause non-syndromic retinitis pigmentosa.
Hum Mol Genet
; 25(8): 1479-88, 2016 Apr 15.
Artigo
Inglês
| MEDLINE | ID: mdl-26908613
6.
Hypomorphic mutations identified in the candidate Leber congenital amaurosis gene CLUAP1.
Genet Med
; 18(10): 1044-51, 2016 10.
Artigo
Inglês
| MEDLINE | ID: mdl-26820066
7.
Mutations in LCA5, encoding the ciliary protein lebercilin, cause Leber congenital amaurosis.
Nat Genet
; 39(7): 889-95, 2007 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-17546029
8.
Contribution of growth differentiation factor 6-dependent cell survival to early-onset retinal dystrophies.
Hum Mol Genet
; 22(7): 1432-42, 2013 Apr 01.
Artigo
Inglês
| MEDLINE | ID: mdl-23307924
9.
GPR179 is required for depolarizing bipolar cell function and is mutated in autosomal-recessive complete congenital stationary night blindness.
Am J Hum Genet
; 90(2): 331-9, 2012 Feb 10.
Artigo
Inglês
| MEDLINE | ID: mdl-22325362
10.
Comprehensive analysis of patients with Stargardt macular dystrophy reveals new genotype-phenotype correlations and unexpected diagnostic revisions.
Genet Med
; 17(4): 262-70, 2015 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-25474345
11.
Next generation sequencing-based molecular diagnosis of retinitis pigmentosa: identification of a novel genotype-phenotype correlation and clinical refinements.
Hum Genet
; 133(3): 331-45, 2014 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-24154662
12.
Comprehensive molecular diagnosis of 179 Leber congenital amaurosis and juvenile retinitis pigmentosa patients by targeted next generation sequencing.
J Med Genet
; 50(10): 674-88, 2013 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-23847139
13.
Temporal trend data (2005-2020) in density and biomass of 13 herbivorous fishes in the Gulf of California.
Data Brief
; 54: 110470, 2024 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-38725556
14.
Screening of a large cohort of leber congenital amaurosis and retinitis pigmentosa patients identifies novel LCA5 mutations and new genotype-phenotype correlations.
Hum Mutat
; 34(11): 1537-1546, 2013 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-23946133
15.
TOPORS, implicated in retinal degeneration, is a cilia-centrosomal protein.
Hum Mol Genet
; 20(5): 975-87, 2011 Mar 01.
Artigo
Inglês
| MEDLINE | ID: mdl-21159800
16.
A (H1N1) pdm09 HA D222 variants associated with severity and mortality in patients during a second wave in Mexico.
Virol J
; 10: 41, 2013 Jan 31.
Artigo
Inglês
| MEDLINE | ID: mdl-23369604
17.
Loss of lysophosphatidylcholine acyltransferase 1 leads to photoreceptor degeneration in rd11 mice.
Proc Natl Acad Sci U S A
; 107(35): 15523-8, 2010 Aug 31.
Artigo
Inglês
| MEDLINE | ID: mdl-20713727
18.
Physicochemical, calorimetric and texture profile characteristics of various gluten-free flours.
Food Sci Technol Int
; : 10820132231166723, 2023 Apr 24.
Artigo
Inglês
| MEDLINE | ID: mdl-37093761
19.
Systematic assessment of the contribution of structural variants to inherited retinal diseases.
bioRxiv
; 2023 Jan 03.
Artigo
Inglês
| MEDLINE | ID: mdl-36789417
20.
Mutations in SPATA7 cause Leber congenital amaurosis and juvenile retinitis pigmentosa.
Am J Hum Genet
; 84(3): 380-7, 2009 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-19268277