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Alain Verloes
Researcher at University of Paris
Publications - 464
Citations - 21574
Alain Verloes is an academic researcher from University of Paris. The author has contributed to research in topics: Microcephaly & Noonan syndrome. The author has an hindex of 73, co-authored 450 publications receiving 19231 citations. Previous affiliations of Alain Verloes include Institut Universitaire de France & Max Planck Society.
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Journal ArticleDOI
Craniosynostosis: A rare complication of pycnodysostosis
Sara Osimani,Isabelle Husson,Sandrine Passemard,Monique Elmaleh,Laurence Perrin,Chloé Quélin,Isabelle Marey,Olivier Delalande,Mirella Filocamo,Alain Verloes +9 more
TL;DR: It is confirmed that intracranial hypertension represents a rare but life-threatening complication of pycnodysostosis, and strongly suggest including systematic examination of fundus oculi and monitoring of OFC in the systematic clinical follow-up of these patients.
Journal ArticleDOI
Identification of Nine New RAI1-Truncating Mutations in Smith-Magenis Syndrome Patients without 17p11.2 Deletions
Christèle Dubourg,Frédérique Bonnet-Brilhault,Annick Toutain,Cyril Mignot,Aurélia Jacquette,Anne Dieux,Marion Gérard,M.-P. Beaumont-Epinette,Sophie Julia,Bertrand Isidor,Massimiliano Rossi,Sylvie Odent,Claude Bendavid,Catherine Barthélémy,Alain Verloes,Véronique David +15 more
TL;DR: 9 new RAI1-truncating mutations in nonrelated individuals referred for molecular analysis due to a possible SMS diagnosis are reported, including 2 nonsense mutations and 7 heterozygous frameshift mutations leading to protein truncation.
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Cardiac involvement in Coffin-Lowry syndrome.
TL;DR: Clinical observation demonstrates clearly that a mitral valve malformation can occur in patients with the syndrome, but also the role of a dilated cardiomyopathy, which can be secondary to the mitral regurgitation, but is more likely a myocardial disorder occurring as part of the syndrome.
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Telemedicine strategy of the European Reference Network ITHACA for the diagnosis and management of patients with rare developmental disorders.
Michael Smith,Elizabeth Alexander,Ruta Marcinkute,Ruta Marcinkute,Dorica Dan,Myfanwy Rawson,Siddharth Banka,Siddharth Banka,Jason Gavin,Hany Mina,Con Hennessy,Florence Riccardi,Francesca Clementina Radio,Marketa Havlovicova,Matteo Cassina,Adela Chirita Emandi,Mélanie Fradin,Lianne Gompertz,Ann Nordgren,Rasa Traberg,Massimiliano Rossi,Aurélien Trimouille,Rasika Sowmyalakshmi,Bruno Dallapiccola,Alessandra Renieri,Laurence Faivre,Bronwyn Kerr,Bronwyn Kerr,Alain Verloes,Jill Clayton-Smith,Jill Clayton-Smith,Sofia Douzgou,Sofia Douzgou +32 more
TL;DR: The variability of the queries in just the first 28 cases submitted to the ERN ITHACA CPMS is a fair representation of the complexity and rarity of the patients referred, but also proof of the sophisticated and variable service that could be provided through a structured telemedicine approach for patients and families with rare developmental disorders.
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Numerical syndromology : a mathematical approach to the nosology of complex phenotypes
TL;DR: Results show that the 5 syndromes clearly constitute independent phenotypic entities, that some of the original diagnoses have to be reconsidered, and that many of the overlapping cases may be unambiguously set in one category.