Detalhe da pesquisa
1.
Mosaic BRCA1 promoter methylation contribution in hereditary breast/ovarian cancer pedigrees.
J Med Genet
; 61(3): 284-288, 2024 Feb 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-37748860
2.
Contribution of whole genome sequencing in the molecular diagnosis of mosaic partial deletion of the NF1 gene in neurofibromatosis type 1.
Hum Genet
; 142(1): 1-9, 2023 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-35941319
3.
Usefulness of anti-factor VIII IgG ELISA in acquired hemophilia A follow-up.
Ann Hematol
; 101(11): 2453-2460, 2022 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-36125542
4.
Cost-effectiveness analysis of pretreatment screening for NUDT15 defective alleles.
Pharmacogenet Genomics
; 30(8): 175-183, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32433339
5.
A de novo germline pathogenic BRCA1 variant identified following an osteosarcoma pangenomic molecular analysis.
Fam Cancer
; 2024 May 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-38763984
6.
Lynch syndrome: influence of additional susceptibility variants on cancer risk.
Eur J Hum Genet
; 31(9): 1078-1082, 2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37088804
7.
Noninvasive Prenatal Diagnosis of a Paternally Inherited MEN1 Pathogenic Splicing Variant.
J Clin Endocrinol Metab
; 107(4): e1367-e1373, 2022 03 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-34897474
8.
Identification of rare defective allelic variants in cases of thiopurine S-methyltransferase deficient activity.
Pharmacogenomics
; 21(17): 1217-1226, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-33118454
9.
Comment on Intragenic inversions in NF1 gene as pathogenic mechanism in neurofibromatosis type 1.
Eur J Hum Genet
; 31(4): 380-382, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36732663
10.
[Missense pathogenic variants in the exonuclease domain of polymerases Polε and Polδ in cancer: The risk of infidelity]. / Cancérogenèse et variants faux sens pathogènes du domaine exonucléasique des ADN polymérases ε et δ - Les risques de l'infidélité.
Med Sci (Paris)
; 38(10): 763-765, 2022 10.
Artigo
em Francês
| MEDLINE | ID: mdl-36219073
11.
Design, Synthesis, and Evaluation of 2,9-Bis[(substituted-aminomethyl)phenyl]-1,10-phenanthroline Derivatives as G-Quadruplex Ligands.
ChemMedChem
; 12(2): 146-160, 2017 01 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-27917615