Detalhe da pesquisa
1.
COLEC10 is mutated in 3MC patients and regulates early craniofacial development.
PLoS Genet
; 13(3): e1006679, 2017 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-28301481
2.
Bardet-Biedl syndrome proteins control the cilia length through regulation of actin polymerization.
Hum Mol Genet
; 22(19): 3858-68, 2013 Oct 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-23716571
3.
Mutations in lectin complement pathway genes COLEC11 and MASP1 cause 3MC syndrome.
Nat Genet
; 43(3): 197-203, 2011 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-21258343
4.
A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies.
Nat Genet
; 41(6): 739-45, 2009 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-19430481
5.
How to shape cells and influence polarized protein trafficking.
Dev Cell
; 15(6): 799-800, 2008 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-19081069
6.
Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome.
Nat Genet
; 40(4): 443-8, 2008 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-18327255
7.
RNAi-mediated inhibition of the glucosylceramide synthase (GCS) gene: A preliminary study towards a therapeutic strategy for Gaucher disease and other glycosphingolipid storage diseases.
Blood Cells Mol Dis
; 37(3): 197-203, 2006.
Artigo
em Inglês
| MEDLINE | ID: mdl-16959503
8.
A mutation within the saposin D domain in a Gaucher disease patient with normal glucocerebrosidase activity.
Hum Genet
; 117(2-3): 275-7, 2005 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-15856305
9.
Perinatal lethal phenotype with generalized ichthyosis in a type 2 Gaucher disease patient with the [L444P;E326K]/P182L genotype: effect of the E326K change in neonatal and classic forms of the disease.
Blood Cells Mol Dis
; 35(2): 253-8, 2005.
Artigo
em Inglês
| MEDLINE | ID: mdl-15967693
10.
Clinical and mutational characterization of three patients with multiple sulfatase deficiency: report of a new splicing mutation.
Mol Genet Metab
; 86(1-2): 206-11, 2005.
Artigo
em Inglês
| MEDLINE | ID: mdl-16125993
11.
Unsuccessful chimeraplast strategy for the correction of a mutation causing Gaucher disease.
Blood Cells Mol Dis
; 31(2): 183-6, 2003.
Artigo
em Inglês
| MEDLINE | ID: mdl-12972023
12.
Gene rearrangements in the glucocerebrosidase-metaxin region giving rise to disease-causing mutations and polymorphisms. Analysis of 25 Rec NciI alleles in Gaucher disease patients.
Hum Genet
; 112(4): 426-9, 2003 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-12589426