Detalhe da pesquisa
1.
Going beyond the surface: a mixed-method exploration of infertility-related quality of life of women with endometriosis.
Psychol Health Med
; : 1-16, 2022 Dec 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-36535893
2.
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
3.
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
4.
Cancer Anxiety Mediates the Association Between Satisfaction With Medical Communication and Psychological Quality of Life After Prophylactic Bilateral Salpingo-Oophorectomy.
Front Psychol
; 13: 840931, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35356354
5.
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
6.
Acute Liver Failure Because of Wilson Disease With Overlapping Autoimmune Hepatitis Features: The Coexistence of Two Diseases?
J Pediatr Gastroenterol Nutr
; 63(2): e23-4, 2016 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-25199035
7.
Cognitive and Personality Factors Implicated in Pain Experience in Women With Endometriosis: A Mixed-Method Study.
Clin J Pain
; 35(12): 948-957, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31433322
8.
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
9.
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
10.
Wilson's disease.
Pril (Makedon Akad Nauk Umet Odd Med Nauki)
; 35(1): 93-8, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-24798599
11.
Bannayan-Riley-Ruvalcaba syndrome with posterior subcapsular congenital cataract and a consensus sequence splicing PTEN mutation.
Am J Med Genet A
; 146A(2): 257-60, 2008 Jan 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-18080326
12.
Allan-Herndon-Dudley syndrome (AHDS) in two consecutive generations caused by a missense MCT8 gene mutation. Phenotypic variability with the presence of normal serum T3 levels.
Eur J Med Genet
; 56(4): 207-10, 2013 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-23419639
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.
Allan-Herndon-Dudley syndrome (AHDS) caused by a novel SLC16A2 gene mutation showing severe neurologic features and unexpectedly low TRH-stimulated serum TSH.
Eur J Med Genet
; 53(6): 392-5, 2010.
Artigo
em Inglês
| MEDLINE | ID: mdl-20713192
15.
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
16.
Bannayan-Riley-Ruvalcaba syndrome with reactive nodular lymphoid hyperplasia and autism and a PTEN mutation.
Am J Med Genet A
; 140(18): 1965-9, 2006 Sep 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-16894538