Detalhe da pesquisa
1.
Frequency of de novo variants and parental mosaicism in vascular Ehlers-Danlos syndrome.
Genet Med
; 21(7): 1568-1575, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30474650
2.
Correction: Arterial tortuosity syndrome: 40 new families and literature review.
Genet Med
; 21(8): 1894-1895, 2019 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-30201961
3.
Pseudoxanthoma elasticum with prominent arterial calcifications evoking CD73 deficiency.
Vasc Med
; 24(5): 461-464, 2019 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-31164056
4.
PHACTR1 Is a Genetic Susceptibility Locus for Fibromuscular Dysplasia Supporting Its Complex Genetic Pattern of Inheritance.
PLoS Genet
; 12(10): e1006367, 2016 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-27792790
5.
Characteristics and clinical assessment of unexplained sudden cardiac arrest in the real-world setting: focus on idiopathic ventricular fibrillation.
Eur Heart J
; 39(21): 1981-1987, 2018 06 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29566157
6.
Arterial tortuosity syndrome: 40 new families and literature review.
Genet Med
; 20(10): 1236-1245, 2018 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-29323665
7.
Mutation spectrum in the ABCC6 gene and genotype-phenotype correlations in a French cohort with pseudoxanthoma elasticum.
Genet Med
; 19(8): 909-917, 2017 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-28102862
8.
Molecular diagnosis of PIK3CA-related overgrowth spectrum (PROS) in 162 patients and recommendations for genetic testing.
Genet Med
; 19(9): 989-997, 2017 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-28151489
9.
High prevalence of arrhythmic and myocardial complications in patients with cardiac glycogenosis due to PRKAG2 mutations.
Europace
; 19(4): 651-659, 2017 Apr 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28431061
10.
Clinical Utility of Genomic Tests Evaluating Homologous Recombination Repair Deficiency (HRD) for Treatment Decisions in Early and Metastatic Breast Cancer.
Cancers (Basel)
; 15(4)2023 Feb 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-36831640
11.
Advancing precision oncology through systematic germline and tumor genetic analysis: The oncogenetic point of view on findings from a prospective multicenter clinical trial of 666 patients.
Cancer Med
; 12(18): 18786-18796, 2023 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-37694493
12.
The "extreme phenotype approach" applied to male breast cancer allows the identification of rare variants of ATR as potential breast cancer susceptibility alleles.
Oncotarget
; 14: 111-125, 2023 02 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-36749285
13.
Novel Association of the NOTCH Pathway Regulator MIB1 Gene With the Development of Bicuspid Aortic Valve.
JAMA Cardiol
; 8(8): 721-731, 2023 08 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37405741
14.
Association and performance of polygenic risk scores for breast cancer among French women presenting or not a familial predisposition to the disease.
Eur J Cancer
; 179: 76-86, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36509001
15.
Assessing the impact of transgenerational epigenetic variation on complex traits.
PLoS Genet
; 5(6): e1000530, 2009 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-19557164
16.
Detection of relevant pharmacogenetic information through exome sequencing in oncology.
Pharmacogenomics
; 23(14): 759-770, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-36043386
17.
Is Bicuspid Aortic Valve Morphology Genetically Determined? A Family-Based Study.
Am J Cardiol
; 163: 85-90, 2022 01 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-34799086
18.
Custom multitumor nextgeneration sequencing panel for routine molecular diagnosis of solid tumors: Validation and results from threeyear clinical use.
Int J Mol Med
; 49(5)2022 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-35244186
19.
Efficacy of platinum-based chemotherapy in metastatic breast cancer and HRD biomarkers: utility of exome sequencing.
NPJ Breast Cancer
; 8(1): 28, 2022 Mar 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35246547
20.
Bicuspid Aortic Valve: Genetic and Clinical Insights.
Aorta (Stamford)
; 9(4): 139-146, 2021 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-34861740