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Antonella Mendola
Researcher at Université catholique de Louvain
Publications - 17
Citations - 1321
Antonella Mendola is an academic researcher from Université catholique de Louvain. The author has contributed to research in topics: Lymphedema & Receptor tyrosine kinase. The author has an hindex of 11, co-authored 17 publications receiving 1058 citations. Previous affiliations of Antonella Mendola include Katholieke Universiteit Leuven.
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Journal ArticleDOI
Somatic Activating PIK3CA Mutations Cause Venous Malformation.
Nisha Limaye,Jaakko Kangas,Antonella Mendola,Catherine Godfraind,Matthieu J. Schlögel,Raphaël Helaers,Lauri Eklund,Laurence M. Boon,Miikka Vikkula +8 more
TL;DR: Significant genotype-phenotype correlations in lesion localization and histology are observed between individuals with mutations in PIK3CA versus TEK, pointing to gene-specific effects.
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.
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Spectrum and prevalence of FP/TMEM127 gene mutations in pheochromocytomas and paragangliomas
Li Yao,F. Schiavi,Alberto Cascón,Yuejuan Qin,Lucía Inglada-Pérez,Elizabeth E. King,Rodrigo A. Toledo,Tonino Ercolino,Elena Rapizzi,Christopher J. Ricketts,Luigi Mori,M. Giacchè,Antonella Mendola,Elisa Taschin,Francesca Boaretto,Paola Loli,Maurizio Iacobone,Gian Paolo Rossi,Bernadette Biondi,José Viana Lima-Junior,Claudio E. Kater,Marie Bex,Miikka Vikkula,Ashley B. Grossman,Stephen B. Gruber,Marta Barontini,Alexandre Persu,Maurizio Castellano,Sergio P. A. Toledo,Eamonn R. Maher,Massimo Mannelli,Giuseppe Opocher,Mercedes Robledo,Patricia L. M. Dahia +33 more
TL;DR: Germline mutations of FP/ TMEM127 were associated with pheochromocytoma but not paraganglioma and occurred in an age group frequently excluded from genetic screening algorithms, and disease-associated mutations disrupt intracellular distribution of the FP/TMEM127 protein.
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Rapamycin improves TIE2-mutated venous malformation in murine model and human subjects
Elisa Boscolo,Elisa Boscolo,Nisha Limaye,Lan Huang,Kyu Tae Kang,Kyu Tae Kang,Julie Soblet,Mélanie Uebelhoer,Antonella Mendola,Marjut Nätynki,Emmanuel Seront,Sophie Dupont,Jennifer Hammer,Catherine Legrand,Carlo Brugnara,Lauri Eklund,Miikka Vikkula,Joyce Bischoff,Laurence M. Boon +18 more
TL;DR: A VM model is generated that allows evaluation of potential therapeutic strategies and demonstrates that rapamycin provides clinical improvement in patients with venous malformation.
Journal ArticleDOI
Mutations in KIF11 Cause Autosomal-Dominant Microcephaly Variably Associated with Congenital Lymphedema and Chorioretinopathy
Pia Ostergaard,Michael A. Simpson,Antonella Mendola,Pradeep Vasudevan,Fiona Connell,Andreas van Impel,Anthony T. Moore,Bart Loeys,Arash Ghalamkarpour,Alexandros Onoufriadis,Ines Martinez-Corral,Sophie Devery,Jules G. Leroy,Lut Van Laer,Amihood Singer,Martin G. Bialer,Meriel McEntagart,Oliver Quarrell,Glen Brice,Richard C. Trembath,Stefan Schulte-Merker,Taija Makinen,Miikka Vikkula,Peter S. Mortimer,Sahar Mansour,Steve Jeffery +25 more
TL;DR: Identification of KIF11 mutations in patients with chorioretinopathy and lymphedema suggests that EG5 is involved in the development and maintenance of retinal and lymphatic structures.