Detalhe da pesquisa
1.
X-Linked Hypohidrotic Ectodermal Dysplasia: New Features and a Novel EDA Gene Mutation.
Cytogenet Genome Res;
152(3): 111-116, 2017.
Artigo
em Inglês
| MEDLINE
| ID: mdl-28877528
2.
Expanding the mutational spectrum of CRLF1 in Crisponi/CISS1 syndrome.
Hum Mutat;
35(4): 424-33, 2014 Apr.
Artigo
em Inglês
| MEDLINE
| ID: mdl-24488861
3.
Remittent hyperammonemia in congenital portosystemic shunt.
Eur J Pediatr;
169(3): 369-72, 2010 Mar.
Artigo
em Inglês
| MEDLINE
| ID: mdl-19618212
4.
Blepharophimosis, ptosis, and epicanthus inversus syndrome: clinical and molecular analysis of a case.
J AAPOS;
10(3): 279-80, 2006 Jun.
Artigo
em Inglês
| MEDLINE
| ID: mdl-16814186
5.
Wilson's disease caused by alternative splicing and Alu exonization due to a homozygous 3039-bp deletion spanning from intron 1 to exon 2 of the ATP7B gene.
Gene;
569(2): 276-9, 2015 Sep 15.
Artigo
em Inglês
| MEDLINE
| ID: mdl-26031236
6.
Crisponi syndrome: a new case with additional features and new mutation in CRLF1.
Am J Med Genet A;
146A(24): 3237-9, 2008 Dec 15.
Artigo
em Inglês
| MEDLINE
| ID: mdl-19012339
7.
Differential secretion of the mutated protein is a major component affecting phenotypic severity in CRLF1-associated disorders.
Eur J Hum Genet;
19(5): 525-33, 2011 May.
Artigo
em Inglês
| MEDLINE
| ID: mdl-21326283
8.
Crisponi syndrome is caused by mutations in the CRLF1 gene and is allelic to cold-induced sweating syndrome type 1.
Am J Hum Genet;
80(5): 971-81, 2007 May.
Artigo
em Inglês
| MEDLINE
| ID: mdl-17436252
9.
FOXL2 inactivation by a translocation 171 kb away: analysis of 500 kb of chromosome 3 for candidate long-range regulatory sequences.
Genomics;
83(5): 757-64, 2004 May.
Artigo
em Inglês
| MEDLINE
| ID: mdl-15081106