Detalhe da pesquisa
1.
Mapping the NPHP-JBTS-MKS protein network reveals ciliopathy disease genes and pathways.
Cell
; 145(4): 513-28, 2011 May 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-21565611
2.
Intellectual and developmental disabilities research centers: Fifty years of scientific accomplishments.
Ann Neurol
; 86(3): 332-343, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-31206741
3.
Joubert Syndrome: Ophthalmological Findings in Correlation with Genotype and Hepatorenal Disease in 99 Patients Prospectively Evaluated at a Single Center.
Ophthalmology
; 125(12): 1937-1952, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-30055837
4.
Molecular genetic findings and clinical correlations in 100 patients with Joubert syndrome and related disorders prospectively evaluated at a single center.
Genet Med
; 19(8): 875-882, 2017 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-28125082
5.
COL4A1-related disease: raised creatine kinase and cerebral calcification as useful pointers.
Neuropediatrics
; 43(5): 283-8, 2012 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-22932948
6.
Prospective Evaluation of Kidney Disease in Joubert Syndrome.
Clin J Am Soc Nephrol
; 12(12): 1962-1973, 2017 Dec 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29146704
7.
Hypomorphism for RPGRIP1L, a ciliary gene vicinal to the FTO locus, causes increased adiposity in mice.
Cell Metab
; 19(5): 767-79, 2014 May 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-24807221
8.
CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium.
Nat Genet
; 44(2): 193-9, 2012 Jan 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-22246503