Detalhe da pesquisa
1.
ANKRD11 variants: KBG syndrome and beyond.
Clin Genet
; 100(2): 187-200, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-33955014
2.
Functional characterization of NIPBL physiological splice variants and eight splicing mutations in patients with Cornelia de Lange syndrome.
Int J Mol Sci
; 15(6): 10350-64, 2014 Jun 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-24918291
3.
Identification and Functional Characterization of Two Intronic NIPBL Mutations in Two Patients with Cornelia de Lange Syndrome.
Biomed Res Int
; 2016: 8742939, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-26925417
4.
Mutation analysis in the fibroblast growth factor 14 gene: frameshift mutation and polymorphisms in patients with inherited ataxias.
Eur J Hum Genet
; 13(1): 118-20, 2005 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-15470364
5.
Spinocerebellar ataxia type 17: report of a family with reduced penetrance of an unstable Gln49 TBP allele, haplotype analysis supporting a founder effect for unstable alleles and comparative analysis of SCA17 genotypes.
BMC Med Genet
; 6: 27, 2005 Jul 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-15989694
6.
Spinocerebellar ataxia type 1 (SCA1): phenotype-genotype correlation studies in intermediate alleles.
Eur J Hum Genet
; 10(3): 204-9, 2002 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-11973625
7.
Ciliary neurotrophic factor influences endocrine adipocyte function: inhibition of leptin via PI 3-kinase.
Mol Cell Endocrinol
; 224(1-2): 21-7, 2004 Sep 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-15353177
8.
Isolated NIBPL missense mutations that cause Cornelia de Lange syndrome alter MAU2 interaction.
Eur J Hum Genet
; 20(3): 271-6, 2012 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-21934712
9.
Mutation of the highly conserved cysteine residue 131 of the SCA14 associated PRKCG gene in a family with slow progressive cerebellar ataxia.
J Neurol
; 253(8): 1111-2, 2006 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-16649092