Detalhe da pesquisa
1.
USMG5 Ashkenazi Jewish founder mutation impairs mitochondrial complex V dimerization and ATP synthesis.
Hum Mol Genet
; 27(19): 3305-3312, 2018 10 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29917077
2.
Mutations in IFT172 cause isolated retinal degeneration and Bardet-Biedl syndrome.
Hum Mol Genet
; 24(1): 230-42, 2015 Jan 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-25168386
3.
Copy-number variation is an important contributor to the genetic causality of inherited retinal degenerations.
Genet Med
; 19(6): 643-651, 2017 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-27735924
4.
Mutations in FBXL4, encoding a mitochondrial protein, cause early-onset mitochondrial encephalomyopathy.
Am J Hum Genet
; 93(3): 482-95, 2013 Sep 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-23993194
5.
Serum molecular signature for proliferative diabetic retinopathy in Saudi patients with type 2 diabetes.
Mol Vis
; 22: 636-45, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-27307695
6.
A novel HSD17B10 mutation impairing the activities of the mitochondrial RNase P complex causes X-linked intractable epilepsy and neurodevelopmental regression.
RNA Biol
; 13(5): 477-85, 2016 05 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-26950678
7.
Panel-based genetic diagnostic testing for inherited eye diseases is highly accurate and reproducible, and more sensitive for variant detection, than exome sequencing.
Genet Med
; 17(4): 253-261, 2015 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-25412400
8.
The transmembrane protein meckelin (MKS3) is mutated in Meckel-Gruber syndrome and the wpk rat.
Nat Genet
; 38(2): 191-6, 2006 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-16415887
9.
Evidence of a third ADPKD locus is not supported by re-analysis of designated PKD3 families.
Kidney Int
; 85(2): 383-92, 2014 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-23760289
10.
Transcriptome analyses of the human retina identify unprecedented transcript diversity and 3.5 Mb of novel transcribed sequence via significant alternative splicing and novel genes.
BMC Genomics
; 14: 486, 2013 Jul 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-23865674
11.
B9D1 is revealed as a novel Meckel syndrome (MKS) gene by targeted exon-enriched next-generation sequencing and deletion analysis.
Hum Mol Genet
; 20(13): 2524-34, 2011 Jul 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-21493627
12.
A novel mutation of LAMB2 in a multigenerational mennonite family reveals a new phenotypic variant of Pierson syndrome.
Ophthalmology
; 118(6): 1137-44, 2011 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-21236492
13.
Incompletely penetrant PKD1 alleles suggest a role for gene dosage in cyst initiation in polycystic kidney disease.
Kidney Int
; 75(8): 848-55, 2009 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-19165178
14.
Characterization of large rearrangements in autosomal dominant polycystic kidney disease and the PKD1/TSC2 contiguous gene syndrome.
Kidney Int
; 74(11): 1468-79, 2008 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-18818683
15.
Whole exome sequencing identification of novel candidate genes in patients with proliferative diabetic retinopathy.
Vision Res
; 139: 168-176, 2017 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-28431867
16.
Clinical and molecular characterization defines a broadened spectrum of autosomal recessive polycystic kidney disease (ARPKD).
Medicine (Baltimore)
; 85(1): 1-21, 2006 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-16523049
17.
Investigation of primary cilia in the pathogenesis of biliary atresia.
J Pediatr Gastroenterol Nutr
; 52(4): 485-8, 2011 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-21407107
18.
Haplotype analysis improves molecular diagnostics of autosomal recessive polycystic kidney disease.
Am J Kidney Dis
; 45(1): 77-87, 2005 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-15696446
19.
Self-hydroxylation of perbenzoic acids at a nonheme iron(II) center.
Chem Commun (Camb)
; (45): 5644-6, 2005 Dec 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-16292376
20.
Efficient In Silico Identification of a Common Insertion in the MAK Gene which Causes Retinitis Pigmentosa.
PLoS One
; 10(11): e0142614, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-26558903