Detalhe da pesquisa
1.
Classification of 101 BRCA1 and BRCA2 variants of uncertain significance by cosegregation study: A powerful approach.
Am J Hum Genet
; 108(10): 1907-1923, 2021 10 07.
Artigo
Inglês
| MEDLINE | ID: mdl-34597585
2.
Analysis of 11 candidate genes in 849 adult patients with suspected hereditary cancer predisposition.
Genes Chromosomes Cancer
; 60(2): 73-78, 2021 02.
Artigo
Inglês
| MEDLINE | ID: mdl-33099839
3.
Feedback of extended panel sequencing in 1530 patients referred for suspicion of hereditary predisposition to adult cancers.
Clin Genet
; 99(1): 166-175, 2021 01.
Artigo
Inglês
| MEDLINE | ID: mdl-33047316
4.
Is BRCA2 involved in early onset colorectal cancer risk?
Clin Genet
; 97(4): 668-669, 2020 04.
Artigo
Inglês
| MEDLINE | ID: mdl-31875949
5.
BRACAVENIR: an observational study of expectations and coping in young women with high hereditary risk of breast and ovarian cancer.
Hered Cancer Clin Pract
; 17: 7, 2019.
Artigo
Inglês
| MEDLINE | ID: mdl-30858899
6.
A novel 2q14.1q14.3 deletion involving GLI2 and RNU4ATAC genes associated with partial corpus callosum agenesis and severe intrauterine growth retardation.
Birth Defects Res A Clin Mol Teratol
; 106(9): 793-7, 2016 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-27346851
7.
Insertion of an extra copy of Xq22.2 into 1p36 results in functional duplication of the PLP1 gene in a girl with classical Pelizaeus-Merzbacher disease.
BMC Med Genet
; 16: 77, 2015 Sep 02.
Artigo
Inglês
| MEDLINE | ID: mdl-26329556
8.
Congenital diaphragmatic hernia may be associated with 17q12 microdeletion syndrome.
Am J Med Genet A
; 167A(1): 250-3, 2015 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-25425496
9.
De novo 2q36.1q36.3 interstitial deletion involving the PAX3 and EPHA4 genes in a fetus with spina bifida and cleft palate.
Birth Defects Res A Clin Mol Teratol
; 100(6): 507-11, 2014 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-24753315
10.
Detection Rate and Spectrum of Pathogenic Variations in a Cohort of 83 Patients with Suspected Hereditary Risk of Kidney Cancer.
Genes (Basel)
; 14(11)2023 Oct 25.
Artigo
Inglês
| MEDLINE | ID: mdl-38002934
11.
Case Series of 11 CDH1 Families (47 Carriers) Including Incidental Findings, Signet Ring Cell Colon Cancer and Review of the Literature.
Genes (Basel)
; 14(9)2023 Aug 25.
Artigo
Inglês
| MEDLINE | ID: mdl-37761816
12.
Diagnosis of PTEN mosaicism: the relevance of additional tumor DNA sequencing. A case report and review of the literature.
BMC Med Genomics
; 16(1): 166, 2023 07 13.
Artigo
Inglês
| MEDLINE | ID: mdl-37442961
13.
Rare duplication of the CDC73 gene and atypical hyperparathyroidism-jaw tumor syndrome: A case report and review of the literature.
Mol Genet Genomic Med
; 11(5): e2133, 2023 05.
Artigo
Inglês
| MEDLINE | ID: mdl-36639964
14.
PERCEPTION Trial protocol: Comparison of predictive and prognostic capacities of neutrophil, lymphocyte, and platelet counts and tumor-infiltrating lymphocytes in triple negative breast cancer.
Medicine (Baltimore)
; 99(50): e23418, 2020 Dec 11.
Artigo
Inglês
| MEDLINE | ID: mdl-33327268
15.
Refinement of the critical region in a new 7p22.1 microduplication syndrome including craniofacial dysmorphism and speech delay.
Am J Med Genet A
; 164A(11): 2964-7, 2014 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-25124455
16.
Early Onset Multiple Primary Tumors in Atypical Presentation of Cowden Syndrome Identified by Whole-Exome-Sequencing.
Front Genet
; 9: 353, 2018.
Artigo
Inglês
| MEDLINE | ID: mdl-30233642
17.
TERT promoter status and gene copy number gains: effect on TERT expression and association with prognosis in breast cancer.
Oncotarget
; 8(44): 77540-77551, 2017 Sep 29.
Artigo
Inglês
| MEDLINE | ID: mdl-29100407
18.
BRACAVENIR - impact of a psychoeducational intervention on expectations and coping in young women (aged 18-30 years) exposed to a high familial breast/ovarian cancer risk: study protocol for a randomized controlled trial.
Trials
; 17(1): 509, 2016 10 21.
Artigo
Inglês
| MEDLINE | ID: mdl-27769293
19.
ERCC1 and telomere status in breast tumours treated with neoadjuvant chemotherapy and their association with patient prognosis.
J Pathol Clin Res
; 2(4): 234-246, 2016 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-27785368
20.
Telomere status in chronic lymphocytic leukemia with TP53 disruption.
Oncotarget
; 7(35): 56976-56985, 2016 08 30.
Artigo
Inglês
| MEDLINE | ID: mdl-27486974