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Displaying 15 results.
    • Journal article
    Prenatally detected copy number variants in a national cohort: A postnatal follow-up study.
    Muys, Joke Jacquemyn, Yves Blaumeiser, Bettina Bourlard, Laura Brison, Nathalie Bulk, Saskia Chiarappa, Patrizia[UCL] De Leener, Anne[UCL] De Rademaeker, Marjan Désir, Julie Destrée, Anne Devriendt, Koenraad Dheedene, Annelies Duquenne, Armelle Fieuw, Annelies Fransen, Erik Gatot, Jean-Stéphane Jamar, Mauricette Janssens, Sandra Kerstjens, Jorien Keymolen, Kathelijn Lederer, Damien Menten, Björn Pichon, Bruno Rombout, Sonia Sznajer, Yves Van Den Bogaert, Ann Van Den Bogaert, Kris Vermeesch, Joris Janssens, Katrien (2020) Prenatal diagnosis — Vol. 40, no.10, p. 1272-1283 (2020)
    • Journal article
    Heterogeneous colonic content: A prenatal sonographic manifestation of lysinuric protein intolerance.
    Dimitriou, Christos Saliba, Souha Peyrassol, Xavier Ben Abbou, Wafa Nassogne, Marie-Cécile[UCL] Neugroschl, Carine Wiame, Elsa[UCL] De Leener, Anne[UCL] Cassart, Marie (2020) Clinical case reports — Vol. 8, no.6, p. 1010-1014 (2020)
    • Speech
    Real-life experience of familial fibrosis in a Belgian university
    Petit, Anne - Sophie[UCL] Dahlqvist, Caroline[UCL] De Leener, Anne[UCL] Kanengiesser, Caroline Borie, Raphaël Froidure, Antoine[UCL] (2019) European Respiratory Society Congress — Madrid
    • Journal article
    Hérédité du cancer du sein : place du médecin généraliste ?
    De Leener, Anne[UCL] (2017) Louvain médical — Vol. 136, no.5, p. 267-271 (2017)
    • Journal article
    Outcome of publicly funded nationwide first-tier noninvasive prenatal screening.
    Van Den Bogaert, Kris Lannoo, Lore Brison, Nathalie Gatinois, Vincent Baetens, Machteld Blaumeiser, Bettina Boemer, François Bourlard, Laura Bours, Vincent De Leener, Anne[UCL] De Rademaeker, Marjan Désir, Julie Dheedene, Annelies Duquenne, Armelle[UCL] Fieremans, Nathalie Fieuw, Annelies Gatot, Jean-Stéphane Grisart, Bernard Janssens, Katrien Janssens, Sandra Lederer, Damien Marichal, Axel Menten, Björn Meunier, Colombine Palmeira, Leonor Pichon, Bruno Sammels, Eva Smits, Guillaume Sznajer, Yves Vantroys, Elise Devriendt, Koenraad Vermeesch, Joris Robert (2021) Genetics in medicine — Vol. 23, no.6, p. 1137-1142 (2021)
    • Journal article
    Case Report: Aggressive neural crest tumors in a child with familial von Hippel Lindau syndrome associated with a germline mutation (c.414A>G) and a novel gene mutation.
    Landen, Lucie[UCL] De Leener, Anne[UCL] Le Roux, Manon[UCL] Brichard, Bénédicte[UCL] Aydin, Selda[UCL] Maiter, Dominique[UCL] Lysy, Philippe[UCL] (2023) Frontiers in endocrinology — Vol. 14, p. 1204793 [1-7] (2023)
    • Journal article
    Comparison of the mutation spectrum and association with pre and post treatment lipid measures of children with heterozygous familial hypercholesterolaemia (FH) from eight European countries.
    Futema, Marta Ramaswami, Uma Tichy, Lukas Bogsrud, Martin P Holven, Kirsten B Roeters van Lennep, Jeanine Wiegman, Albert Descamps, Olivier S De Leener, Anne[UCL] Fastre, Elodie[UCL] Vrablik, Michal Freiberger, Tomas Esterbauer, Harald Dieplinger, Hans Greber-Platzer, Susanne Medeiros, Ana M Bourbon, Mafalda Mollaki, Vasiliki Drogari, Euridiki Humphries, Steve E (2021) Atherosclerosis — Vol. 319, p. 108-117 (2021)
    • Journal article
    Haplotyping-based preimplantation genetic testing reveals parent-of-origin specific mechanisms of aneuploidy formation.
    Tšuiko, Olga Vanneste, Michiel Melotte, Cindy Ding, Jia Debrock, Sophie Masset, Heleen Peters, Maire Salumets, Andres De Leener, Anne[UCL] Pirard, Céline[UCL] Kluyskens, Candice[UCL] Hostens, Katleen van de Vijver, Arne Peeraer, Karen Denayer, Ellen Vermeesch, Joris Robert Dimitriadou, Eftychia (2021) NPJ genomic medicine — Vol. 6, no. 1, p. 81 [1-10] (2021)
    • Journal article
    Performance and Diagnostic Value of Genome-Wide Noninvasive Prenatal Testing in Multiple Gestations.
    van Riel, Margot Brison, Nathalie Baetens, Machteld Blaumeiser, Bettina Boemer, François Bourlard, Laura Bulk, Saskia De Leener, Anne[UCL] Désir, Julie Devriendt, Koenraad Dheedene, Annelies Duquenne, Armelle[UCL] Fieremans, Nathalie Fieuw, Annelies Gatot, Jean-Stéphane Grisart, Bernard Janssens, Sandra Khudashvili, Naïri Lannoo, Lore Marichal, Axel Meunier, Colombine Palmeira, Leonor Parijs, Ilse Pichon, Bruno Roets, Ellen Sammels, Eva Smits, Guillaume Suenaert, Marion Sznajer, Yves[UCL] Van den Bogaert, Kris Vancoillie, Leen Vandeputte, Lotte Vantroys, Elise Vermeesch, Joris Robert Janssens, Katrien (2021) Obstetrics and gynecology — Vol. 137, no. 6, p. 1102-1108 (2021)
    • Journal article
    Fibroses pulmonaires familiales et téloméropathies
    Plante-Bordeneuve, Thomas[UCL] De Leener, Anne[UCL] Poire, Xavier[UCL] Froidure, Antoine[UCL] (2019) Louvain médical — Vol. 138, no. 7, p. 431-438 (2019)
    • Speech
    Abstract P5-03-03: Tumor sequencing is useful to reclassify germline variants in unexplained high-risk breast cancer families
    van Marcke, Cédric[UCL] Helaers, Raphaël[UCL] Schoonjans, Céline[UCL] Berliere, Martine[UCL] De Leener, Anne[UCL] Canon, Jean-Luc Vuylsteke, Peter Machiels, Jean-Pascal[UCL] Limaye, Nisha[UCL] Vikkula, Miikka[UCL] Duhoux, Francois[UCL] (2020) Abstracts: 2019 San Antonio Breast Cancer Symposium; December 10-14, 2019; San Antonio, Texas — San Antonio, Texas
    • Journal article
    Congenital hydrocephalus: new Mendelian mutations and evidence for oligogenic inheritance.
    Jacquemin, Valerie Versbraegen, Nassim Duerinckx, Sarah Massart, Annick Soblet, Julie Perazzolo, Camille Deconinck, Nicolas Brischoux-Boucher, Elise De Leener, Anne[UCL] Revencu, Nicole[UCL] Janssens, Sandra Moorgat, Stèphanie Blaumeiser, Bettina Avela, Kristiina Touraine, Renaud Abou Jaoude, Imad Keymolen, Kathelijn Saugier-Veber, Pascale Lenaerts, Tom Abramowicz, Marc Pirson, Isabelle (2023) Human genomics — Vol. 17, no.1, p. 16 (2023)
    • Journal article
    Tumor sequencing is useful to refine the analysis of germline variants in unexplained high-risk breast cancer families.
    van Marcke, Cédric[UCL] Helaers, Raphaël[UCL] De Leener, Anne[UCL] Merhi, Ahmad[UCL] Schoonjans, Céline Ambroise, Jérôme[UCL] Galant, Christine[UCL] Delrée, Paul Rothé, Françoise Bar, Isabelle Khoury, Elsa[UCL] Brouillard, Pascal[UCL] Canon, Jean-Luc Vuylsteke, Peter[UCL] Machiels, Jean-Pascal[UCL] Berliere, Martine[UCL] Limaye, Nisha[UCL] Vikkula, Miikka[UCL] Duhoux, François[UCL] (2020) Breast cancer research — Vol. 22, no. 1, p. 36 (2020)
    • Speech
    Tumor sequencing is useful to reclassify germline variants in unexplained high-risk breast cancer
    van Marcke, Cédric[UCL] Helaers, Raphaël[UCL] Schoonjans, Céline[UCL] Berlière, Martine[UCL] De Leener, Anne[UCL] canon, Jean-Luc Vuylsteke, Peter[UCL] Machiels, Jean-Pascal[UCL] Limaye, Nisha[UCL] Vikkula, Miikka[UCL] Duhoux, François[UCL] (2019) San Antonio Breast Cancer Symposium — San Antonio
    • Journal article
    A Belgian consensus strategy to identify familial hypercholesterolaemia in the coronary care unit and its subsequent cascade screening and treatment: BEL-FaHST (The BELgium Familial Hypercholesterolaemia STrategy).
    Descamps, Olivier[UCL] Van Caenegem, Olivier[UCL] Hermans, Michel[UCL] Balligand, Jean-Luc[UCL] Beauloye, Christophe[UCL] Bondue, Antoine Carlier, Stéphane Castermans, Emilie Chenot, Fabien Claeys, Marc De Block, Christophe De Leener, Anne[UCL] De Meester, Antoine Demeure, Fabian[UCL] De Raedt, Herbert Desmet, Walter Elegeert, Ivan Guillaume, Michel Hoffer, Etienne Kacenelenbogen, Raymond Lancellotti, Patrizio Langlois, Michel Leone, Attilio Mertens, Ann Paquot, Nicolas Vanakker, Olivier Vanoverschelde, Jean-Louis[UCL] Verhaegen, Ann Vermeersch, Pieter Wallemacq, Caroline Rietzschel, Ernst (2018) Atherosclerosis — Vol. 277, p. 369-376 (2018)