Detalhe da pesquisa
1.
MSH3: a confirmed predisposing gene for adenomatous polyposis.
J Med Genet
; 60(12): 1198-1205, 2023 Nov 27.
Artigo
Inglês
| MEDLINE | ID: mdl-37402566
2.
Testicular Sertoli cell tumour and potentially testicular Leydig cell tumour are features of DICER1 syndrome.
J Med Genet
; 59(4): 346-350, 2022 04.
Artigo
Inglês
| MEDLINE | ID: mdl-33782093
3.
Genetic, structural, and functional characterization of POLE polymerase proofreading variants allows cancer risk prediction.
Genet Med
; 22(9): 1533-1541, 2020 09.
Artigo
Inglês
| MEDLINE | ID: mdl-32424176
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.
Growth charts in Kabuki syndrome 1.
Am J Med Genet A
; 182(3): 446-453, 2020 03.
Artigo
Inglês
| MEDLINE | ID: mdl-31876365
6.
Targeted next-generation sequencing detects rare genetic events in pheochromocytoma and paraganglioma.
J Med Genet
; 56(8): 513-520, 2019 08.
Artigo
Inglês
| MEDLINE | ID: mdl-30877234
7.
Alu element insertion in the MLH1 exon 6 coding sequence as a mutation predisposing to Lynch syndrome.
Hum Mutat
; 40(6): 716-720, 2019 06.
Artigo
Inglês
| MEDLINE | ID: mdl-30815977
8.
Ovarian Clear Cell Carcinoma in Cowden Syndrome.
J Natl Compr Canc Netw
; 17(1): 7-11, 2019 01.
Artigo
Inglês
| MEDLINE | ID: mdl-30659124
9.
Psychosocial and clinical factors of probands impacting intrafamilial disclosure and uptake of genetic testing among families with BRCA1/2 or MMR gene mutations.
Psychooncology
; 28(8): 1679-1686, 2019 08.
Artigo
Inglês
| MEDLINE | ID: mdl-31152683
10.
Early onset breast cancer: differences in risk factors, tumor phenotype, and genotype between North African and South European women.
Breast Cancer Res Treat
; 166(2): 631-639, 2017 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-28779219
11.
Mutation Update for Kabuki Syndrome Genes KMT2D and KDM6A and Further Delineation of X-Linked Kabuki Syndrome Subtype 2.
Hum Mutat
; 37(9): 847-64, 2016 09.
Artigo
Inglês
| MEDLINE | ID: mdl-27302555
12.
Predominance of BRCA2 Mutation and Estrogen Receptor Positivity in Unselected Breast Cancer with BRCA1 or BRCA2 Mutation.
Cancers (Basel)
; 14(13)2022 Jul 04.
Artigo
Inglês
| MEDLINE | ID: mdl-35805038
13.
A Truncated NRIP1 Mutant Amplifies Microsatellite Instability of Colorectal Cancer by Regulating MSH2/MSH6 Expression, and Is a Prognostic Marker of Stage III Tumors.
Cancers (Basel)
; 13(17)2021 Sep 03.
Artigo
Inglês
| MEDLINE | ID: mdl-34503257
14.
No Association of Early-Onset Breast or Ovarian Cancer with Early-Onset Cancer in Relatives in BRCA1 or BRCA2 Mutation Families.
Genes (Basel)
; 12(7)2021 07 20.
Artigo
Inglês
| MEDLINE | ID: mdl-34356116
15.
Clinical practice guidelines for BRCA1 and BRCA2 genetic testing.
Eur J Cancer
; 146: 30-47, 2021 03.
Artigo
Inglês
| MEDLINE | ID: mdl-33578357
16.
National recommendations of the French Genetics and Cancer Group - Unicancer on the modalities of multi-genes panel analyses in hereditary predispositions to tumors of the digestive tract.
Eur J Med Genet
; 63(12): 104080, 2020 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-33039684
17.
Reprogramming of Human Peripheral Blood Mononuclear Cell (PBMC) from a patient suffering of a Werner syndrome resulting in iPSC line (REGUi003-A) maintaining a short telomere length.
Stem Cell Res
; 39: 101515, 2019 08.
Artigo
Inglês
| MEDLINE | ID: mdl-31404747
18.
Osteosarcoma without prior retinoblastoma related to RB1 low-penetrance germline pathogenic variants: A novel type of RB1-related hereditary predisposition syndrome?
Mol Genet Genomic Med
; 7(12): e913, 2019 12.
Artigo
Inglês
| MEDLINE | ID: mdl-31568710
19.
Mosaic complete tetrasomy 21 in a fetus with complete atrioventricular septal defect and minor morphological variations.
Mol Genet Genomic Med
; 7(11): e00895, 2019 11.
Artigo
Inglês
| MEDLINE | ID: mdl-31493343
20.
Role of the general practitioner in the care of BRCA1 and BRCA2 mutation carriers: General practitioner and patient perspectives.
Mol Genet Genomic Med
; 6(6): 957-965, 2018 11.
Artigo
Inglês
| MEDLINE | ID: mdl-30308700