Detalhe da pesquisa
1.
Multidisciplinary approaches for elucidating genetics and molecular pathogenesis of urinary tract malformations.
Kidney Int
; 101(3): 473-484, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34780871
2.
Loss of δ-catenin function in severe autism.
Nature
; 520(7545): 51-6, 2015 Apr 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-25807484
3.
Genetic Drivers of Kidney Defects in the DiGeorge Syndrome.
N Engl J Med
; 376(8): 742-754, 2017 02 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-28121514
4.
A truncating mutation in CEP55 is the likely cause of MARCH, a novel syndrome affecting neuronal mitosis.
J Med Genet
; 54(7): 490-501, 2017 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-28264986
5.
A novel test for recessive contributions to complex diseases implicates Bardet-Biedl syndrome gene BBS10 in idiopathic type 2 diabetes and obesity.
Am J Hum Genet
; 95(5): 509-20, 2014 Nov 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-25439097
6.
Discovery and functional annotation of SIX6 variants in primary open-angle glaucoma.
PLoS Genet
; 10(5): e1004372, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-24875647
7.
Whole genome sequencing in patients with retinitis pigmentosa reveals pathogenic DNA structural changes and NEK2 as a new disease gene.
Proc Natl Acad Sci U S A
; 110(40): 16139-44, 2013 Oct 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-24043777
8.
Direct role of Bardet-Biedl syndrome proteins in transcriptional regulation.
J Cell Sci
; 125(Pt 2): 362-75, 2012 Jan 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-22302990
9.
Putative digenic inheritance of heterozygous RP1L1 and C2orf71 null mutations in syndromic retinal dystrophy.
Ophthalmic Genet
; 38(2): 127-132, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-27029556
10.
Ciliopathy proteins regulate paracrine signaling by modulating proteasomal degradation of mediators.
J Clin Invest
; 124(5): 2059-70, 2014 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-24691443