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D

Dominique Stoppa-Lyonnet

Paris Cite University
H指数:83
被引数:3.4万

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Molecular evolution of mosaic chromosome 18 copy-number alterations from gametes to hepatoblastoma

嵌合染色体18在配子到肝母细胞瘤过程中的分子进化及拷贝数改变

2026-04-200
OAAI
A recurrent pathogenic BRCA2 truncating variant reveals a role for BRCA2-PCAF complex in modulating NF-κB-driven transcription

一种反复出现的致病性BRCA2截断变异揭示了BRCA2-PCAF复合物在调节NF-κB驱动的转录中的作用

2025-12-100
OA
A functional assay to classify RB1 variants of uncertain significance

一种功能实验用于分类RB1不确定意义变异

2025-11-130
PRE
Myeloid neoplasms risks for germline DDX41 pathogenic variants carriers

携带胚系DDX41致病性变异的髓系肿瘤风险

2025-10-030
PRE
Clinical implications of incorporating genetic and non-genetic risk factors in CanRisk-based breast cancer risk prediction

在基于canrik的乳腺癌风险预测中纳入遗传和非遗传危险因素的临床意义

BREAST
IF7.9
2024-02-014
OAAI
Male breast cancer: No evidence for mosaic BRCA1 promoter methylation involvement
BREAST
IF7.9
2024-02-010
OAAI
Familial uveal melanoma and other tumors in 25 families with monoallelic germline MBD4 variants
2023-12-070
PRE
Shallow whole genome sequencing approach to detect Homologous Recombination Deficiency in the PAOLA-1/ENGOT-OV25 phase-III trial
2023-11-098
OAAI
Mosaic BRCA1 promoter methylation contribution in hereditary breast/ovarian cancer pedigrees
2023-09-253
PRE
Germline HPF1 retrogene insertion in RB1 gene involved in cancer predisposition

生殖系HPF1逆转录基因插入RB1基因参与癌症易感性

2023-08-040
PRE
MSH3: a confirmed predisposing gene for adenomatous polyposis
2023-07-047
PRE
Knowledge, acceptability and personal attitude toward pre-implantation 1 genetic testing (PGT) and pre-natal diagnosis (PND) for females carrying BRCA pathogenic variant according to fertility preservation experience
2023-05-080
PRE
Clonal hematopoiesis driven by chromosome 1q/MDM4 trisomy defines a canonical route toward leukemia in Fanconi anemia
2023-02-0136
OAAI
Association and performance of polygenic risk scores for breast cancer among French women presenting or not a familial predisposition to the disease

在法国女性中,乳腺癌的多基因风险评分的关联和表现是否具有该疾病的家族性易感性

2023-01-013
OAAI
First estimates of diffuse gastric cancer risks for carriers of CTNNA1 germline pathogenic variants

首次估计CTNNA1种系致病变异携带者的弥漫性胃癌风险

2022-08-2912
PRE