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
em Inglês
| MEDLINE | ID: mdl-22863007
2.
PCARE and WASF3 regulate ciliary F-actin assembly that is required for the initiation of photoreceptor outer segment disk formation.
Proc Natl Acad Sci U S A
; 117(18): 9922-9931, 2020 05 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32312818
3.
Phenotype based prediction of exome sequencing outcome using machine learning for neurodevelopmental disorders.
Genet Med
; 24(3): 645-653, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34906484
4.
Missense variants in ANKRD11 cause KBG syndrome by impairment of stability or transcriptional activity of the encoded protein.
Genet Med
; 24(10): 2051-2064, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35833929
5.
Liver cyst gene knockout in cholangiocytes inhibits cilium formation and Wnt signaling.
Hum Mol Genet
; 26(21): 4190-4202, 2017 11 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28973524
6.
Allelic Mutations of KITLG, Encoding KIT Ligand, Cause Asymmetric and Unilateral Hearing Loss and Waardenburg Syndrome Type 2.
Am J Hum Genet
; 97(5): 647-60, 2015 Nov 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-26522471
7.
Missense variants in ANKRD11 cause KBG syndrome by impairment of stability or transcriptional activity of the encoded protein.
Genet Med
; 25(11): 100962, 2023 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-37658852
8.
Clinical and genetic analyses of a Dutch cohort of 40 patients with a nephronophthisis-related ciliopathy.
Pediatr Nephrol
; 33(10): 1701-1712, 2018 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-29974258
9.
NINL and DZANK1 Co-function in Vesicle Transport and Are Essential for Photoreceptor Development in Zebrafish.
PLoS Genet
; 11(10): e1005574, 2015 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-26485514
10.
Spata7 is a retinal ciliopathy gene critical for correct RPGRIP1 localization and protein trafficking in the retina.
Hum Mol Genet
; 24(6): 1584-601, 2015 Mar 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-25398945
11.
Elution profile analysis of SDS-induced subcomplexes by quantitative mass spectrometry.
Mol Cell Proteomics
; 13(5): 1382-91, 2014 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-24563533
12.
Active transport and diffusion barriers restrict Joubert Syndrome-associated ARL13B/ARL-13 to an Inv-like ciliary membrane subdomain.
PLoS Genet
; 9(12): e1003977, 2013.
Artigo
em Inglês
| MEDLINE | ID: mdl-24339792
13.
Missense mutations in ß-1,3-N-acetylglucosaminyltransferase 1 (B3GNT1) cause Walker-Warburg syndrome.
Hum Mol Genet
; 22(9): 1746-54, 2013 May 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-23359570
14.
Disruption of an EHMT1-associated chromatin-modification module causes intellectual disability.
Am J Hum Genet
; 91(1): 73-82, 2012 Jul 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-22726846
15.
Regulation of E2F1 by the von Hippel-Lindau tumour suppressor protein predicts survival in renal cell cancer patients.
J Pathol
; 231(1): 117-29, 2013 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-23744542
16.
Autosomal recessive dilated cardiomyopathy due to DOLK mutations results from abnormal dystroglycan O-mannosylation.
PLoS Genet
; 7(12): e1002427, 2011 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-22242004
17.
MYCN haploinsufficiency is associated with reduced brain size and intestinal atresias in Feingold syndrome.
Nat Genet
; 37(5): 465-7, 2005 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-15821734
18.
Prevalence of comorbidities in individuals with neurodevelopmental disorders from the aggregated phenomics data of 51,227 pediatric individuals.
Nat Med
; 2024 May 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-38745008
19.
Genome sequencing as a generic diagnostic strategy for rare disease.
Genome Med
; 16(1): 32, 2024 Feb 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-38355605
20.
Scrutinizing ciliopathies by unraveling ciliary interaction networks.
Hum Mol Genet
; 20(R2): R149-57, 2011 Oct 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-21862450