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Congenital hydrocephalus: new Mendelian mutations and evidence for oligogenic inheritance.
Published in:
Human Genomics, 2023, v. 17, n. 1, p. 1, doi. 10.1186/s40246-023-00464-w
By:
- Jacquemin, Valerie;
- Versbraegen, Nassim;
- Duerinckx, Sarah;
- Massart, Annick;
- Soblet, Julie;
- Perazzolo, Camille;
- Deconinck, Nicolas;
- Brischoux-Boucher, Elise;
- De Leener, Anne;
- Revencu, Nicole;
- Janssens, Sandra;
- Moorgat, Stèphanie;
- Blaumeiser, Bettina;
- Avela, Kristiina;
- Touraine, Renaud;
- Abou Jaoude, Imad;
- Keymolen, Kathelijn;
- Saugier-Veber, Pascale;
- Lenaerts, Tom;
- Abramowicz, Marc
Publication type:
Article
A family with a novel TSH receptor activating germline mutation (p.Ala485Val).
Published in:
2008
By:
- Akcurin, Sema;
- Turkkahraman, Doga;
- Tysoe, Carolyn;
- Ellard, Sian;
- De Leener, Anne;
- Vassart, Gilbert;
- Costagliola, Sabine
Publication type:
journal article
Prenatally detected copy number variants in a national cohort: A postnatal follow‐up study.
Published in:
Prenatal Diagnosis, 2020, v. 40, n. 10, p. 1272, doi. 10.1002/pd.5751
By:
- Muys, Joke;
- Jacquemyn, Yves;
- Blaumeiser, Bettina;
- Bourlard, Laura;
- Brison, Nathalie;
- Bulk, Saskia;
- Chiarappa, Patrizia;
- De Leener, Anne;
- 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
Publication type:
Article
The Belgian MicroArray Prenatal (BEMAPRE) database: A systematic nationwide repository of fetal genomic aberrations.
Published in:
2018
By:
- Muys, Joke;
- Blaumeiser, Bettina;
- Jacquemyn, Yves;
- Bandelier, Claude;
- Brison, Nathalie;
- Bulk, Saskia;
- Chiarappa, Patrizia;
- Courtens, Winnie;
- De Leener, Anne;
- De Rademaeker, Marjan;
- Désir, Julie;
- Destrée, Anne;
- Devriendt, Koenraad;
- Dheedene, Annelies;
- Fieuw, Annelies;
- Fransen, Erik;
- Gatot, Jean‐Stéphane;
- Holmgren, Philip;
- Jamar, Mauricette;
- Janssens, Sandra
Publication type:
journal article
Case Report: Aggressive neural crest tumors in a child with familial von Hippel Lindau syndrome associated with a germline VHL mutation (c.414A>G) and a novel KIF1B gene mutation.
Published in:
Frontiers in Endocrinology, 2023, p. 1, doi. 10.3389/fendo.2023.1204793
By:
- Landen, Lucie;
- De Leener, Anne;
- Le Roux, Manon;
- Brichard, Bénédicte;
- Aydin, Selda;
- Maiter, Dominique;
- Lysy, Philippe A.
Publication type:
Article
A Familial Heterozygous Null Mutation of MET in Autism Spectrum Disorder.
Published in:
Autism Research: Official Journal of the International Society for Autism Research, 2014, v. 7, n. 5, p. 617, doi. 10.1002/aur.1396
By:
- Lambert, Nelle;
- Wermenbol, Vanessa;
- Pichon, Bruno;
- Acosta, Sandra;
- Ameele, Jelle;
- Perazzolo, Camille;
- Messina, Diana;
- Musumeci, Maria ‐ Franca;
- Dessars, Barbara;
- De Leener, Anne;
- Abramowicz, Marc;
- Vilain, Catheline
Publication type:
Article
Preclinical workup using long-read amplicon sequencing provides families with de novo pathogenic variants access to universal preimplantation genetic testing.
Published in:
Human Reproduction, 2023, v. 38, n. 3, p. 511, doi. 10.1093/humrep/deac273
By:
- Tsuiko, Olga;
- Ayeb, Yasmine El;
- Jatsenko, Tatjana;
- Allemeersch, Joke;
- Melotte, Cindy;
- Ding, Jia;
- Debrock, Sophie;
- Peeraer, Karen;
- Vanhie, Arne;
- Leener, Anne De;
- Pirard, Céline;
- Kluyskens, Candice;
- Denayer, Ellen;
- Legius, Eric;
- Vermeesch, Joris Robert;
- Brems, Hilde;
- Dimitriadou, Eftychia
Publication type:
Article
Metabolic characteristics of women who developed ovarian hyperstimulation syndrome.
Published in:
2002
By:
- Delvigne, Annick;
- Kostyla, Karol;
- De Leener, Anne;
- Lejeune, Bernard;
- Cantiniaux, Brigitte;
- Bergmann, Pierre;
- Rozenberg, Serge
Publication type:
journal article
Identification of the first germline mutation in the extracellular domain of the follitropin receptor responsible for spontaneous ovarian hyperstimulation syndrome.
Published in:
Human Mutation, 2008, v. 29, n. 1, p. 91, doi. 10.1002/humu.20604
By:
- De Leener, Anne;
- Caltabiano, Gianluigi;
- Erkan, Sanly;
- Idil, Mehmet;
- Vassart, Gilbert;
- Pardo, Leonardo;
- Costagliola, Sabine
Publication type:
Article
Haplotyping-based preimplantation genetic testing reveals parent-of-origin specific mechanisms of aneuploidy formation.
Published in:
NPJ Genomic Medicine, 2021, v. 6, n. 1, p. 1, doi. 10.1038/s41525-021-00246-0
By:
- Tšuiko, Olga;
- Vanneste, Michiel;
- Melotte, Cindy;
- Ding, Jia;
- Debrock, Sophie;
- Masset, Heleen;
- Peters, Maire;
- Salumets, Andres;
- De Leener, Anne;
- Pirard, Céline;
- Kluyskens, Candice;
- Hostens, Katleen;
- van de Vijver, Arne;
- Peeraer, Karen;
- Denayer, Ellen;
- Vermeesch, Joris Robert;
- Dimitriadou, Eftychia
Publication type:
Article
Heterogeneous colonic content: A prenatal sonographic manifestation of lysinuric protein intolerance.
Published in:
Clinical Case Reports, 2020, v. 8, n. 6, p. 1010, doi. 10.1002/ccr3.2780
By:
- Dimitriou, Christos;
- Saliba, Souha;
- Peyrassol, Xavier;
- Ben Abbou, Wafa;
- Nassogne, Marie Cécile;
- Neugroschl, Carine;
- Wiame, Elsa;
- De Leener, Anne;
- Cassart, Marie
Publication type:
Article
Tumor sequencing is useful to refine the analysis of germline variants in unexplained high-risk breast cancer families.
Published in:
2020
By:
- 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;
- Berlière, Martine;
- Limaye, Nisha;
- Vikkula, Miikka;
- Duhoux, François P.
Publication type:
journal article
Evaluation of a new generation of plastic evacuated blood-collection tubes in clinical chemistry, therapeutic drug monitoring, hormone and trace metal analysis.
Published in:
Clinical Chemistry & Laboratory Medicine, 2004, v. 42, n. 1, p. 67, doi. 10.1515/CCLM.2004.013
By:
- Boeynaems, Jean-Marie;
- De Leener, Anne;
- Dessars, Barbara;
- Rodriguez Villa-Lobos, Hector;
- Aubry, Jean-Claude;
- Cotton, Frédéric;
- Thiry, Philippe
Publication type:
Article

Found: 13