Rezultati - Anne‐Laure Todeschini
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A Hot-spot of In-frame Duplications Activates the Oncoprotein AKT1 in Juvenile Granulosa Cell Tumors od L Bessière, Anne‐Laure Todeschini, Aurélie Auguste, Sabine Sarnacki, Delphine Flatters, Bérangère Legois, Charles Sultan, Nicolas Kalfa, Louise Galmiche, Reiner A. Veitia
Izdano 2015Artigo -
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Transcription factor FOXL2 protects granulosa cells from stress and delays cell cycle: role of its regulation by the SIRT1 deacetylase od Bérénice A. Benayoun, Adrien Georges, David L’Hôte, Noora Andersson, Aurélie Dipietromaria, Anne‐Laure Todeschini, Sandrine Caburet, C. Bazin, Mikko Anttonen, Reiner A. Veitia
Izdano 2011Artigo -
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A truncating MEIOB mutation responsible for familial primary ovarian insufficiency abolishes its interaction with its partner SPATA22 and their recruitment to DNA double-strand bre... od Sandrine Caburet, Anne‐Laure Todeschini, Cynthia Petrillo, Emmanuelle Martini, Nada Danial‐Farran, Bérangère Legois, Gabriel Livera, Johnny S. Younis, Stavit A. Shalev, Reiner A. Veitia
Izdano 2019Artigo -
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NR5A1 is a novel disease gene for 46,XX testicular and ovotesticular disorders of sex development od Dorien Baetens, Hans Stoop, Frank Peelman, Anne‐Laure Todeschini, Toon Rosseel, Frauke Coppieters, Reiner A. Veitia, Leendert H. J. Looijenga, Elfride De Baere, Martine Cools
Izdano 2016Artigo -
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Identification of Multiple Gene Mutations Accounts for a new Genetic Architecture of Primary Ovarian Insufficiency od Justine Bouilly, Isabelle Beau, Sara Barraud, Valérie Bernard, K. Azibi, Jérôme Fagart, Anne Fèvre, Anne‐Laure Todeschini, Reiner A. Veitia, Chérif Beldjord, Brigitte Delemer, Catherine Dodé, Jacques Young, Nadine Binart
Izdano 2016Artigo -
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Functional Exploration of the Adult Ovarian Granulosa Cell Tumor-Associated Somatic FOXL2 Mutation p.Cys134Trp (c.402C>G) od Bérénice A. Benayoun, Sandrine Caburet, Aurélie Dipietromaria, Adrien Georges, Barbara D′haene, Eswari P. J. Pandaranayaka, David L’Hôte, Anne‐Laure Todeschini, S. Krishnaswamy, Marc Fellous, Elfride De Baere, Reiner A. Veitia
Izdano 2010Artigo -
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A missense in HSF2BP causing primary ovarian insufficiency affects meiotic recombination by its novel interactor C19ORF57/BRME1 od Natalia Felipe‐Medina, Sandrine Caburet, Fernando Sánchez-Sáez, Yazmine B. Condezo, Dirk G. de Rooij, Laura Gómez-H, Rodrigo García-Valiente, Anne‐Laure Todeschini, Paloma Duque, Manuel Sánchez‐Martín, Stavit A. Shalev, Elena Llano, Reiner A. Veitia, Alberto M. Pendás
Izdano 2020Artigo
Iskalna orodja:
Sorodne teme
Biology
Gene
Genetics
Mutation
Cell biology
Transcription factor
Cancer research
Germline mutation
Internal medicine
Medicine
Endocrinology
Somatic cell
Cancer
Downregulation and upregulation
Gene expression
Missense mutation
Molecular biology
Nuclear receptor
Ovary
AKT1
Alternative splicing
Andrology
Blepharophimosis
Breast cancer
Candidate gene
Carcinogenesis
Cell
Cell cycle
Chromosome
Context (archaeology)