Detalhe da pesquisa
1.
Deleterious, protein-altering variants in the transcriptional coregulator ZMYM3 in 27 individuals with a neurodevelopmental delay phenotype.
Am J Hum Genet;
110(2): 215-227, 2023 02 02.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36586412
2.
Genetic compensation for cilia defects in cep290 mutants by upregulation of cilia-associated small GTPases.
J Cell Sci;
134(14)2021 07 15.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34155518
3.
Biallelic variants in PSMB1 encoding the proteasome subunit ß6 cause impairment of proteasome function, microcephaly, intellectual disability, developmental delay and short stature.
Hum Mol Genet;
29(7): 1132-1143, 2020 05 08.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32129449
4.
Deleterious Variation in BRSK2 Associates with a Neurodevelopmental Disorder.
Am J Hum Genet;
104(4): 701-708, 2019 04 04.
Artigo
em Inglês
| MEDLINE
| ID: mdl-30879638
5.
Mutations in ARMC9, which Encodes a Basal Body Protein, Cause Joubert Syndrome in Humans and Ciliopathy Phenotypes in Zebrafish.
Am J Hum Genet;
101(1): 23-36, 2017 Jul 06.
Artigo
em Inglês
| MEDLINE
| ID: mdl-28625504
6.
Healthcare recommendations for Joubert syndrome.
Am J Med Genet A;
182(1): 229-249, 2020 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31710777
7.
A new mouse model for the neurodevelopmental ciliopathy Joubert syndrome.
J Pathol;
248(4): 393-395, 2019 08.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31095728
8.
Loss-of-function of the ciliopathy protein Cc2d2a disorganizes the vesicle fusion machinery at the periciliary membrane and indirectly affects Rab8-trafficking in zebrafish photoreceptors.
PLoS Genet;
13(12): e1007150, 2017 12.
Artigo
em Inglês
| MEDLINE
| ID: mdl-29281629
9.
Further corroboration of distinct functional features in SCN2A variants causing intellectual disability or epileptic phenotypes.
Mol Med;
25(1): 6, 2019 02 27.
Artigo
em Inglês
| MEDLINE
| ID: mdl-30813884
10.
Elucidation of the phenotypic spectrum and genetic landscape in primary and secondary microcephaly.
Genet Med;
21(9): 2043-2058, 2019 09.
Artigo
em Inglês
| MEDLINE
| ID: mdl-30842647
11.
Interpreting the clinical significance of combined variants in multiple recessive disease genes: systematic investigation of Joubert syndrome yields little support for oligogenicity.
Genet Med;
20(2): 223-233, 2018 Feb.
Artigo
em Inglês
| MEDLINE
| ID: mdl-28771248
12.
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
13.
The Ciliopathy Protein CC2D2A Associates with NINL and Functions in RAB8-MICAL3-Regulated Vesicle Trafficking.
PLoS Genet;
11(10): e1005575, 2015 Oct.
Artigo
em Inglês
| MEDLINE
| ID: mdl-26485645
14.
Mutations in CSPP1 cause primary cilia abnormalities and Joubert syndrome with or without Jeune asphyxiating thoracic dystrophy.
Am J Hum Genet;
94(1): 62-72, 2014 Jan 02.
Artigo
em Inglês
| MEDLINE
| ID: mdl-24360808
15.
Mortality in Joubert syndrome.
Am J Med Genet A;
173(5): 1237-1242, 2017 May.
Artigo
em Inglês
| MEDLINE
| ID: mdl-28371402
16.
KIAA0586 is Mutated in Joubert Syndrome.
Hum Mutat;
36(9): 831-5, 2015 Sep.
Artigo
em Inglês
| MEDLINE
| ID: mdl-26096313
17.
[Genetic complexity of ciliopathies and novel genes identification]. / Complexité génétique des ciliopathies et identification de nouveaux gènes.
Med Sci (Paris);
30(11): 1011-23, 2014 Nov.
Artigo
em Francês
| MEDLINE
| ID: mdl-25388584
18.
The ciliopathy gene cc2d2a controls zebrafish photoreceptor outer segment development through a role in Rab8-dependent vesicle trafficking.
Hum Mol Genet;
20(20): 4041-55, 2011 Oct 15.
Artigo
em Inglês
| MEDLINE
| ID: mdl-21816947
19.
Genotype-phenotype correlation in CC2D2A-related Joubert syndrome reveals an association with ventriculomegaly and seizures.
J Med Genet;
49(2): 126-37, 2012 Feb.
Artigo
em Inglês
| MEDLINE
| ID: mdl-22241855
20.
Control of protein and lipid composition of photoreceptor outer segments-Implications for retinal disease.
Curr Top Dev Biol;
155: 165-225, 2023.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38043951