Detalhe da pesquisa
1.
Feasibility of RNA studies on illegitimate transcription for molecular characterization of splicing mutations in the ATP7B gene: a case report.
Mol Cell Probes
; 26(2): 63-5, 2012 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-22019423
2.
Mutation analysis of the ATP7B gene in a new group of Wilson's disease patients: contribution to diagnosis.
Mol Cell Probes
; 26(4): 147-50, 2012 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-22484412
3.
DNA and RNA studies for molecular characterization of a gross deletion detected in homozygosity in the NH2-terminal region of the ATP7B gene in a Wilson disease patient.
Mol Cell Probes
; 25(5-6): 195-8, 2011.
Artigo
em Inglês
| MEDLINE | ID: mdl-21925265
4.
Development of TaqMan allelic specific discrimination assay for detection of the most common Sardinian Wilson's disease mutations. Implications for genetic screening.
Mol Cell Probes
; 24(4): 233-5, 2010 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-20138984
5.
High incidence and allelic homogeneity of Wilson disease in 2 isolated populations: a prerequisite for efficient disease prevention programs.
J Pediatr Gastroenterol Nutr
; 47(3): 334-8, 2008 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-18728530
6.
Twenty-four novel mutations in Wilson disease patients of predominantly Italian origin.
Genet Test
; 11(3): 328-32, 2007.
Artigo
em Inglês
| MEDLINE | ID: mdl-17949296
7.
The canine copper toxicosis gene MURR1 is not implicated in the pathogenesis of Wilson disease.
J Gastroenterol
; 41(6): 582-7, 2006 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-16868807
8.
ATP7B Gene Mutations in Croatian Patients with Wilson Disease.
Genet Test Mol Biomarkers
; 20(3): 112-7, 2016 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-26799313
9.
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
10.
"Acquired" hepatocerebral degeneration in a patient heterozygote carrier for a novel mutation in ATP7B gene.
Mov Disord
; 24(11): 1706-8, 2009 Aug 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-19514071
11.
Wilson's disease.
Pril (Makedon Akad Nauk Umet Odd Med Nauki)
; 35(1): 93-8, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-24798599
12.
The homozygosity index (HI) approach reveals high allele frequency for Wilson disease in the Sardinian population.
Eur J Hum Genet
; 21(11): 1308-11, 2013 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-23486543
13.
Wilson's disease in two consecutive generations: the detection of three mutated alleles in the ATP7B gene in two Sardinian families.
Dig Liver Dis
; 45(4): 342-5, 2013 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-23219664
14.
RNA analysis of consensus sequence splicing mutations: implications for the diagnosis of Wilson disease.
Genet Test Mol Biomarkers
; 13(2): 185-91, 2009 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-19371217
15.
Analysis of the T1288R mutation of the Wilson disease ATP7B gene in four generations of a family: possible genotype-phenotype correlation with hepatic onset.
Dig Dis Sci
; 52(10): 2570-5, 2007 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-17410460
16.
A new mutation of Wilson's disease P-type ATPase gene in a patient with cirrhosis and coombs-positive hemolytic anemia.
Dig Dis Sci
; 51(1): 34-8, 2006 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-16416207