N
Nicole Revencu
Researcher at Cliniques Universitaires Saint-Luc
Publications - 80
Citations - 3257
Nicole Revencu is an academic researcher from Cliniques Universitaires Saint-Luc. The author has contributed to research in topics: Medicine & Biology. The author has an hindex of 25, co-authored 69 publications receiving 2710 citations. Previous affiliations of Nicole Revencu include Catholic University of Leuven & Université catholique de Louvain.
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Journal ArticleDOI
De novo mutations of SETBP1 cause Schinzel-Giedion syndrome
Alexander Hoischen,Bregje W.M. van Bon,Christian Gilissen,Peer Arts,Bart van Lier,Marloes Steehouwer,Petra de Vries,Rick de Reuver,Nienke Wieskamp,Geert Mortier,Koenraad Devriendt,Marta Z Amorim,Nicole Revencu,Alexa Kidd,Mafalda Barbosa,Anne M. Turner,Janine Smith,Christina Oley,Alex Henderson,Ian Hayes,Elizabeth Thompson,Han G. Brunner,Bert B.A. de Vries,Joris A. Veltman +23 more
TL;DR: The exomes of four affected individuals (cases) were sequenced and heterozygous de novo variants in SETBP1 in all four and mutations clustered to a highly conserved 11-bp exonic region, suggesting a dominant-negative or gain-of-function effect.
Journal ArticleDOI
Parkes Weber syndrome, vein of galen aneurysmal malformation, and other fast-flow vascular anomalies are caused by RASA1 mutations
Nicole Revencu,Laurence M. Boon,John B. Mulliken,Odile Enjolras,Maria R. Cordisco,Patricia E. Burrows,Philippe Clapuyt,Frank Hammer,Josée Dubois,Eulalia Baselga,Francesco Brancati,Robin Carder,José Miguel Ceballos Quintal,Bruno Dallapiccola,Gayle Fischer,Ilona J. Frieden,Maria C. Garzon,John Harper,Jennifer Johnson-Patel,Christine Labrèze,Loreto Martorell,Harriet J. Paltiel,Annette Pohl,Julie S. Prendiville,Isabelle Quéré,Dawn H. Siegel,Enza Maria Valente,Annet Van Hagen,Liselot Van Hest,Keith K. Vaux,Asunción Vicente,Lisa Weibel,David Chitayat,Miikka Vikkula +33 more
TL;DR: This first extensive study on the phenotypes associated with RASA1 mutations, and unravels their wide heterogeneity is reported, finding some CM‐AVM patients had neural tumors reminiscent of neurofibromatosis type 1 or 2.
Journal ArticleDOI
RASA1 Mutations and Associated Phenotypes in 68 Families with Capillary Malformation–Arteriovenous Malformation
Nicole Revencu,Laurence M. Boon,Antonella Mendola,Maria R. Cordisco,Josée Dubois,Philippe Clapuyt,Frank Hammer,David J. Amor,Alan D. Irvine,Eulalia Baselga,Anne Dompmartin,S. Syed,Ana Martín-Santiago,Lesley C. Adès,Felicity Collins,Janine Smith,Sarah A. Sandaradura,Victoria R. Barrio,Patricia E. Burrows,Francine Blei,Mariarosaria Cozzolino,Nicola Brunetti-Pierri,Asunción Vicente,Marc Abramowicz,Julie Désir,Catheline Vilain,Wendy K. Chung,Ashley Wilson,Carol A. Gardiner,Yim Dwight,David J.E. Lord,Leona Fishman,Cheryl Cytrynbaum,Sarah L. Chamlin,Fred Ghali,Yolanda Gilaberte,Shelagh Joss,María del Carmen Boente,Christine Léauté-Labrèze,Marie Ange Delrue,Susan J. Bayliss,Loreto Martorell,María Antonia González-Enseñat,Juliette Mazereeuw-Hautier,Brid O'Donnell,Didier Bessis,Reed E. Pyeritz,Aicha Salhi,Oon T. Tan,Orli Wargon,John B. Mulliken,Miikka Vikkula +51 more
TL;DR: In conclusion, mutations in RASA1 underscore the specific CM–AVM phenotype and the clinical diagnosis is based on identifying the characteristic CMs, and the high incidence of fast‐flow lesions warrants careful clinical and radiologic examination, and regular follow‐up.
Journal ArticleDOI
Germline Loss-of-Function Mutations in EPHB4 Cause a Second Form of Capillary Malformation-Arteriovenous Malformation (CM-AVM2) Deregulating RAS-MAPK Signaling
Mustapha Amyere,Nicole Revencu,Raphaël Helaers,Eleonore Pairet,Eulalia Baselga,Maria R. Cordisco,Wendy K. Chung,Josée Dubois,Jean-Philippe Lacour,Loreto Martorell,Juliette Mazereeuw-Hautier,Reed E. Pyeritz,David J. Amor,Annouk Bisdorff,Francine Blei,Hannah M Bombei,Anne Dompmartin,David G. Brooks,Juliette Dupont,María Antonia González-Enseñat,Ilona J. Frieden,Marion Gérard,Malin Kvarnung,Andrea Hanson-Kahn,Louanne Hudgins,Christine Léauté-Labrèze,Catherine McCuaig,Denise W. Metry,Philippe Parent,Carle Paul,Florence Petit,A. Phan,Isabelle Quéré,Aicha Salhi,Anne M. Turner,Pierre Vabres,Asunción Vicente,Orli Wargon,Shoji Watanabe,Lisa Weibel,Ashley Wilson,Marcia C. Willing,John B. Mulliken,Laurence M. Boon,Miikka Vikkula +44 more
TL;DR: The data highlight the pathogenetic importance of this interaction and indicts EPHB4-RAS-ERK signaling pathway as a major cause for AVMs.
Journal ArticleDOI
Cerebral cavernous malformation: new molecular and clinical insights
Nicole Revencu,Miikka Vikkula +1 more
TL;DR: In a large series of KRIT1 mutation carriers, clinical and neuroradiological features have been characterised and will help to elucidate the precise pathogenic mechanisms leading to CCM, contributing to a better understanding of normal and pathological angiogenesis and to the development of targeted treatment.