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.
WGS Revealed Novel BBS5 Pathogenic Variants, Missed by WES, Causing Ciliary Structure and Function Defects.
Int J Mol Sci
; 24(10)2023 May 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-37240074
3.
Periodontal (formerly type VIII) Ehlers-Danlos syndrome: Description of 13 novel cases and expansion of the clinical phenotype.
Clin Genet
; 100(2): 206-212, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-33890303
4.
A BBS1 SVA F retrotransposon insertion is a frequent cause of Bardet-Biedl syndrome.
Clin Genet
; 99(2): 318-324, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33169370
5.
Novel IQCE variations confirm its role in postaxial polydactyly and cause ciliary defect phenotype in zebrafish.
Hum Mutat
; 41(1): 240-254, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31549751
6.
High prevalence of Bardet-Biedl syndrome in La Réunion Island is due to a founder variant in ARL6/BBS3.
Clin Genet
; 98(2): 166-171, 2020 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32361989
7.
Mutations in KARS cause a severe neurological and neurosensory disease with optic neuropathy.
Hum Mutat
; 40(10): 1826-1840, 2019 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-31116475
8.
AnnotSV: an integrated tool for structural variations annotation.
Bioinformatics
; 34(20): 3572-3574, 2018 10 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-29669011
9.
Bardet-Biedl syndrome: Antenatal presentation of forty-five fetuses with biallelic pathogenic variants in known Bardet-Biedl syndrome genes.
Clin Genet
; 95(3): 384-397, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30614526
10.
In vivo phenotypic and molecular characterization of retinal degeneration in mouse models of three ciliopathies.
Exp Eye Res
; 186: 107721, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-31302159
11.
Whole-genome sequencing in patients with ciliopathies uncovers a novel recurrent tandem duplication in IFT140.
Hum Mutat
; 39(7): 983-992, 2018 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29688594
12.
Mutations in TUBGCP4 alter microtubule organization via the γ-tubulin ring complex in autosomal-recessive microcephaly with chorioretinopathy.
Am J Hum Genet
; 96(4): 666-74, 2015 Apr 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-25817018
13.
Mutations in the latent TGF-beta binding protein 3 (LTBP3) gene cause brachyolmia with amelogenesis imperfecta.
Hum Mol Genet
; 24(11): 3038-49, 2015 Jun 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-25669657
14.
Identification of a novel mutation confirms the implication of IFT172 (BBS20) in Bardet-Biedl syndrome.
J Hum Genet
; 61(5): 447-50, 2016 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-26763875
15.
Neuropathy target esterase impairments cause Oliver-McFarlane and Laurence-Moon syndromes.
J Med Genet
; 52(2): 85-94, 2015 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-25480986
16.
Exome sequencing of Bardet-Biedl syndrome patient identifies a null mutation in the BBSome subunit BBIP1 (BBS18).
J Med Genet
; 51(2): 132-6, 2014 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-24026985
17.
BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus.
Nat Genet
; 38(5): 521-4, 2006 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-16582908
18.
Homozygosity mapping and candidate prioritization identify mutations, missed by whole-exome sequencing, in SMOC2, causing major dental developmental defects.
Am J Hum Genet
; 89(6): 773-81, 2011 Dec 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-22152679
19.
Pharmacological modulation of the retinal unfolded protein response in Bardet-Biedl syndrome reduces apoptosis and preserves light detection ability.
J Biol Chem
; 287(44): 37483-94, 2012 Oct 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-22869374
20.
Exome sequencing identifies mutations in LZTFL1, a BBSome and smoothened trafficking regulator, in a family with Bardet--Biedl syndrome with situs inversus and insertional polydactyly.
J Med Genet
; 49(5): 317-21, 2012 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-22510444