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Sylvie Mazoyer

institut national de la santé et de la recherche médicale (inserm)
H指数:54
被引数:1.1万

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Deficiency of the minor spliceosome component U4atac snRNA secondarily results in ciliary defects in human and zebrafish
2023-02-213
OAAI
Altered regulation of BRCA1 exon 11 splicing is associated with breast cancer risk in carriers of BRCA1 pathogenic variants

BRCA1外显子11剪接调控的改变与BRCA1致病变异携带者的乳腺癌风险相关

2021-08-3110
OAAI
Diagnostic chest X-rays and breast cancer risk among women with a hereditary predisposition to breast cancer unexplained by a BRCA1 or BRCA2 mutation
2021-08-034
OAAI
Gene- and pathway-level analyses of iCOGS variants highlight novel signaling pathways underlying familial breast cancer susceptibility
2021-01-094
OAAI
Novel diagnostic tool for prediction of variant spliceogenicity derived from a set of 395 combined in silico/in vitro studies: an international collaborative effort (vol 46, pg 7913, 2018)
2019-12-216
OAAI
Familial breast cancer and DNA repair genes: Insights into known and novel susceptibility genes from the GENESIS study, and implications for multigene panel testing
2018-11-1356
OAAI
GEMO, a National Resource to Study Genetic Modifiers of Breast and Ovarian Cancer Risk in BRCA1 and BRCA2 Pathogenic Variant Carriers

GEMO,研究BRCA1和BRCA2致病性变异携带者中乳腺癌和卵巢癌风险的遗传修饰因素的国家资源

2018-10-3113
OAAI
Novel diagnostic tool for prediction of variant spliceogenicity derived from a set of 395 combined in silico/in vitro studies: an international collaborative effort (vol 46, pg 7913, 2018)
2018-10-134
OAAI
Novel diagnostic tool for prediction of variant spliceogenicity derived from a set of 395 combined in silico/in vitro studies: an international collaborative effort
2018-05-1068
OAAI
Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer

鉴定与雌激素受体阴性乳腺癌风险相关的十种变异

2017-10-23270
OAAI
Identification of 12 new susceptibility loci for different histotypes of epithelial ovarian cancer

不同组织型上皮性卵巢癌12个新的易感位点的鉴定

2017-03-27325
OAAI
Association of breast cancer risk in BRCA1 and BRCA2 mutation carriers with genetic variants showing differential allelic expression: identification of a modifier of breast cancer risk at locus 11q22.3

BRCA1和BRCA2突变携带者的乳腺癌风险与显示差异等位基因表达的遗传变异的关联: 在11 q28.3位点鉴定乳腺癌风险的修饰因子

2016-10-2831
OAAI
Identification of independent association signals and putative functional variants for breast cancer risk through fine-scale mapping of the 12p11 locus

通过12p11基因座的精细定位来识别独立关联信号和推定的乳腺癌风险功能变异

2016-06-2135
OAAI
Identification of four novel susceptibility loci for oestrogen receptor negative breast cancer

4个新的雌激素受体阴性乳腺癌易感位点的鉴定

2016-04-2785
OAAI
Breast cancer risk variants at 6q25 display different phenotype associations and regulate ESR1, RMND1 and CCDC170
2016-02-29114
OAAI