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Presse Medicale (Paris, France : 1983)|May 31, 2025
Genetic aspects of vascular malformationsNicole Revencu, Julien Coulie, Laurence M Boon, et al.
Research and Practice in Thrombosis and Haemostasis|May 13, 2024
Direct oral anticoagulants and venous malformations: literature review and retrospective study of 29 patientsEugénie Lagneaux, Laurence M Boon, Nicole Revencu, et al.
American Journal of Medical Genetics. Part A|July 21, 2026
Resolution of the Diagnostic Odyssey in a Familial Form of Hackmann-Di Donato Syndrome With Structural Brain AbnormalitiesCélia Gérard, Eric Olinger, Dana Dumitriu, et al.
European Journal of Medical Genetics|February 5, 2019
A novel RAD21 mutation in a boy with mild Cornelia de Lange presentation: Further delineation of the phenotypeSarah Dorval, Maura Masciadri, Mikaël Mathot, et al.
Journal of Cosmetic and Laser Therapy : Official Publication of the European Society for Laser Dermatology|January 21, 2015
Heredity of port-wine stains: investigation of families without a RASA1 mutationAgneta Troilius Rubin, Edgar Lauritzen, Bo Ljunggren, et al.
Molecular Genetics & Genomic Medicine|April 15, 2022
Somatic TEK variant with intraarticular venous malformation and knee hemarthrosis treated with rapamycinSalma Adham, Nicole Revencu, Sandrine Mestre, et al.
American Journal of Medical Genetics. Part A|November 22, 2018
Unmasking familial CPX by WES and identification of novel clinical signsBénédicte Demeer, Nicole Revencu, Raphael Helaers, et al.
European Journal of Pediatrics|October 31, 2003
Congenital diaphragmatic eventration and bilateral uretero-hydronephrosis in a patient with neonatal Marfan syndrome caused by a mutation in exon 25 of the FBN1 gene and review of the literatureNicole Revencu, Geneviève Quenum, Thierry Detaille, et al.
European Journal of Human Genetics : EJHG|September 1, 2005
Interferon regulatory factor-6: a gene predisposing to isolated cleft lip with or without cleft palate in the Belgian populationMichella Ghassibé, Benedicte Bayet, Nicole Revencu, et al.
Human Mutation|December 22, 2025
Likely Pathogenic/Pathogenic Variants in the Spliceosome Complex Genes SNRNP200, SF3B1, SF3B2, and SF3B4 Implicated in Nonsyndromic Orofacial CleftPeyman Ranji, Eleonore Pairet, Raphael Helaers, et al.
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