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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Journal ArticleDOI
The putative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndrome.
Laura Crisponi,Manila Deiana,Loi A,Francesca Chiappe,Manuela Uda,Patrizia Amati,Luigi Bisceglia,Leopoldo Zelante,Ramaiah Nagaraja,S. Porcu,Ristaldi Ms,R. Marzella,Mariano Rocchi,M Nicolino,Lienhardt-Roussie A,Annie Nivelon,Alain Verloes,David Schlessinger,Paolo Gasparini,Dominique Bonneau,Antonio Cao,Giuseppe Pilia +21 more
TL;DR: A novel, putative winged helix/forkhead transcription factor gene, FOXL2, that is mutated to produce truncated proteins in type I families and larger proteins inType II, represents a candidate gene for the polled/intersex syndrome XX sex-reversal goat.
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Identification of the gene altered in Berardinelli-Seip congenital lipodystrophy on chromosome 11q13.
Jocelyne Magré,Marc Delepine,Eliane Khallouf,Tobias Gedde-Dahl,Lionel Van Maldergem,Eric M. Sobel,Jeanette C. Papp,Muriel Meier,André Mégarbané,A. Bachy,Alain Verloes,F. H. D'abronzo,E. Seemanova,Roger Assan,N. Baudic,Bourut C,Paul Czernichow,Frédéric Huet,Florin Grigorescu,M. De Kerdanet,Didier Lacombe,Philippe Labrune,M. Lanza,H. Loret,Fumihiko Matsuda,J. Navarro,A. Nivelon-Chevalier,Meraida Polak,J.-J. Robert,P. Tric,N. Tubiana-Rufi,Corinne Vigouroux,Jean Weissenbach,S. Savasta,J. A. Maassen,O. Trygstad,P. Bogalho,P. Freitas,J. L. Medina,F. Bonnicci,Barry I Joffe,G. Loyson,Vanessa R. Panz,Frederick J. Raal,Stephen O'Rahilly,T. Stephenson,C R Kahn,Mark Lathrop,Jacqueline Capeau +48 more
TL;DR: A genome screen of nine BSCL families from two geographical clusters revealed mutations in a gene homologous to the murine guanine nucleotide-binding protein, γ3-linked gene (Gng3lg) in all BSCL2-linked families, of general importance for understanding the molecular mechanisms underlying regulation of body fat distribution and insulin resistance.
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Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome
Tetsuya Niihori,Yoko Aoki,Yoko Narumi,Giovanni Neri,Hélène Cavé,Alain Verloes,Nobuhiko Okamoto,Raoul C.M. Hennekam,Gabriele Gillessen-Kaesbach,Dagmar Wieczorek,Maria Ines Kavamura,Kenji Kurosawa,Hirofumi Ohashi,Louise C. Wilson,Delphine Héron,Dominique Bonneau,Giuseppina Corona,Tadashi Kaname,Kenji Naritomi,Clarisse Baumann,Naomichi Matsumoto,Kumi Kato,Shigeo Kure,Yoichi Matsubara +23 more
TL;DR: Dysregulation of the RAS-RAF-ERK pathway is a common molecular basis for the three related disorders of Cardio-facio-cutaneous syndrome, which phenotypically overlaps with Noonan and Costello syndrome.
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p63 Gene mutations in EEC syndrome, limb-mammary syndrome, and isolated split hand-split foot malformation suggest a genotype-phenotype correlation
Hans van Bokhoven,Ben C.J. Hamel,Michael J. Bamshad,Eugenio Sangiorgi,Fiorella Gurrieri,Pascal H.G. Duijf,Kaate R.J. Vanmolkot,Ellen van Beusekom,Sylvia E. C. van Beersum,Jacopo Celli,Gerard Merkx,Romano Tenconi,Jean Pierre Fryns,Alain Verloes,Ruth Newbury-Ecob,Annick Raas-Rotschild,Frank Majewski,Frits A. Beemer,Andreas R. Janecke,David Chitayat,Giangiorgio Crisponi,Hülya Kayserili,John R.W. Yates,Giovanni Neri,Han G. Brunner +24 more
TL;DR: In this paper, the p63 gene mutations were detected in almost all (40/43) individuals affected with EEC syndrome, in 35 individuals with nonsyndromic split hand-split foot malformation (SHFM), and in three families with the EEC-like condition limb-mammary syndrome (LMS), which is characterized by ectrodactyly, cleft palate, and mammary-gland abnormalities.
Journal ArticleDOI
Updated diagnostic criteria for CHARGE syndrome: a proposal.
TL;DR: Verloes et al. as discussed by the authors defined CHARGE association as the nonrandom cluster of developmentalanomalies that results from early teratogenic events that overlap in time and space.