A
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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Michels syndrome, Carnevale syndrome, OSA syndrome, and Malpuech syndrome: variable expression of a single disorder (3MC syndrome)?
Luigi Titomanlio,Selim Bennaceur,Dominique Bremond-Gignac,Clarisse Baumann,Olivier Dupuy,Alain Verloes +5 more
TL;DR: It appears that these four entities share multiple similarities in the facial Gestalt and the pattern of MCA, which lead us to postulate that they belong to the same spectrum, which could be referred to as “3MC syndrome” (Malpuech‐Michels‐Mingarelli‐Carnevale syndrome).
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Somatic mosaicism in Cornelia de Lange syndrome: a further contributor to the wide clinical expressivity?
Paola Castronovo,Andrée Delahaye-Duriez,Cristina Gervasini,Jacopo Azzollini,F. Minier,Silvia Russo,Maura Masciadri,Angelo Selicorni,Alain Verloes,Lidia Larizza +9 more
TL;DR: Somatic mosaicism in Cornelia de Lange syndrome: a further contributor to the wide clinical expressivity?
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Incomplete penetrance and phenotypic variability of 6q16 deletions including SIM1.
Laila El Khattabi,Fabien Guimiot,Eva Pipiras,Joris Andrieux,Clarisse Baumann,Sonia Bouquillon,Anne Lise Delezoide,Bruno Delobel,Florence Demurger,Hélène Dessuant,Séverine Drunat,Christelle Dubourg,Céline Dupont,Laurence Faivre,Muriel Holder-Espinasse,Sylvie Jaillard,Hubert Journel,Stanislas Lyonnet,Valérie Malan,Alice Masurel,Nathalie Marle,Chantal Missirian,Alexandre Moerman,Anne Moncla,Sylvie Odent,Orazio Palumbo,Pietro Palumbo,Aimé Ravel,Serge Romana,Anne Claude Tabet,Mylène Valduga,Marie Vermelle,Massimo Carella,Jean Michel Dupont,Alain Verloes,Brigitte Benzacken,Andrée Delahaye +36 more
TL;DR: Genotype–phenotype correlations confirmed the major role for SIM1 haploinsufficiency in obesity and the PWS-like phenotype, and only 8 of 13 patients with SIM1 deletion exhibited obesity, in agreement with incomplete penetrance of SIM1haploinsuffsiciency.
Clinical Report Michels Syndrome, Carnevale Syndrome, OSA Syndrome, and Malpuech Syndrome: Variable Expression of a Single Disorder (3MC Syndrome)?
Luigi Titomanlio,Selim Bennaceur,Dominique Bremond-Gignac,Clarisse Baumann,Olivier Dupuy,Alain Verloes +5 more
TL;DR: In this paper, a 3-year-old girl with Michel syndrome was reported, a rare condition characterized by craniosynostosis, blepharophimosis, ptosis, epi-canthus inversus, cleft lip/palate, abnormals upra-umbilical abdominal wall, and mental deficiency.
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BBS8 is rarely mutated in a cohort of 128 Bardet–Biedl syndrome families
Corinne Stoetzel,Virginie Laurier,Laurence Faivre,André Mégarbané,Fabienne Perrin-Schmitt,Alain Verloes,Dominique Bonneau,Jean-Louis Mandel,Mireille Cossée,Hélène Dollfus +9 more
TL;DR: Three additional families with BBS8 mutations from a series of 128 BBS families are reported, underlining the difficulty of genotyping heterogeneous conditions.