المؤلفون: van Marcke, Cédric, Helaers, Raphaël, De Leener, Anne, Merhi, Ahmad, Schoonjans, Céline A, Ambroise, Jérôme, Galant, Christine, Delrée, Paul, Rothé, Françoise, Bar, Isabelle, Khoury, Elsa, Brouillard, Pascal, Canon, Jean-Luc, Vuylsteke, Peter, Machiels, Jean-Pascal, Berliere, Martine, Limaye, Nisha, Vikkula, Miikka, Duhoux, Francois

المساهمون: UCL - SSS/DDUV/GEHU - Génétique

المصدر: Breast cancer research : BCR, Vol. 22, no.1, p. 36 (2020)

مصطلحات موضوعية: Adult, Aged, BRCA1 Protein, BRCA2 Protein, Breast Neoplasms, DNA Copy Number Variations, Female, Genetic Predisposition to Disease, Genetic Testing, Germ-Line Mutation, Humans, Middle Aged, Neoplasm Grading, Risk Factors, Whole Exome Sequencing, Breast cancer, Germline, Mutational signatures, Predisposition, Second hit, Variant of unknown significance

العلاقة: boreal:259564; http://hdl.handle.net/2078.1/259564Test; info:pmid/32295625; urn:EISSN:1465-542X

الإتاحة: https://doi.org/10.1186/s13058-020-01273-yTest
http://hdl.handle.net/2078.1/259564Test

المؤلفون: Revencu, Nicole, Fastre, Elodie, Ravoet, Marie, Helaers, Raphaël, Brouillard, Pascal, Bisdorff-Bresson, Annouk, Chung, Clara W T, Gerard, Marion, Dvorakova, Veronika, Irvine, Alan D, Boon, Laurence M, Vikkula, Miikka

المساهمون: UCL - SSS/DDUV/GEHU - Génétique

المصدر: Journal of medical genetics, Vol. 57, no.1, p. 48-52 (2020)

مصطلحات موضوعية: Arteriovenous Malformations, Capillaries, DNA Mutational Analysis, High-Throughput Nucleotide Sequencing, Humans, Mosaicism, Mutation, Port-Wine Stain, p120 GTPase Activating Protein, RASA1, capillary malformation-arteriovenous malformation, mosaic mutation, second hit

العلاقة: boreal:230276; http://hdl.handle.net/2078.1/230276Test; info:pmid/31300548; urn:EISSN:1468-6244

الإتاحة: https://doi.org/10.1136/jmedgenet-2019-106024Test
http://hdl.handle.net/2078.1/230276Test

المؤلفون: Revencu, Nicole, Fastre, Elodie, Ravoet, Marie, Helaers, Raphaël, Brouillard, Pascal, Bisdorff-Bresson, Annouk, Chung, Clara, Gérard, Marion, Dvorakova, Veronika, Irvine, Alan, Boon, Laurence, Vikkula, Miikka

المساهمون: Laboratory of Human Molecular Genetics, Université Catholique de Louvain = Catholic University of Louvain (UCL)-de Duve Institute, Research Unit in Molecular Biology (URBM-NARILIS), Université de Namur Namur (UNamur), Université de Lorraine (UL)

المصدر: ISSN: 0022-2593.

مصطلحات موضوعية: RASA1, capillary malformation-arteriovenous malformation, mosaic mutation, second hit, [SDV.GEN]Life Sciences [q-bio]/Genetics

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/31300548; hal-02268420; https://normandie-univ.hal.science/hal-02268420Test; PUBMED: 31300548

الإتاحة: https://doi.org/10.1136/jmedgenet-2019-106024Test
https://normandie-univ.hal.science/hal-02268420Test