A
Annie Nivelon
Publications - 3
Citations - 1110
Annie Nivelon is an academic researcher. The author has contributed to research in topics: Forkhead box L2 & MKKS. The author has an hindex of 3, co-authored 3 publications receiving 1061 citations.
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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.
Journal ArticleDOI
Hydrometrocolpos and polydactyly: a common neonatal presentation of Bardet-Biedl and McKusick-Kaufman syndromes
Albert David,Pierre Bitoun,Didier Lacombe,Jean-Claude Lambert,Annie Nivelon,Jacqueline Vigneron,Alain Verloes +6 more
TL;DR: A series of nine patients diagnosed in infancy with MKKS, who later developed obesity and retinal dystrophy, thus turning out to be instances of Bardet-Biedl syndrome are reported here.
Journal ArticleDOI
A proposed new contiguous gene syndrome on 8q consists of Branchio-Oto-Renal (BOR) syndrome, Duane syndrome, a dominant form of hydrocephalus and trapeze aplasia; implications for the mapping of the BOR gene
Christophe Vincent,Vasiliki Kalatzis,Sylvie Compain,Jacqueline Levilliers,Rima Slim,Fatima Graia,Maria de Lurdes Pereira,Annie Nivelon,Marie-France Croquette,Didier Lacombe,Jacqueline Vigneron,Jocelyne Hélias,Michel Broyer,David F. Callen,Eric Haan,Jean Weissenbach,Bruno Lacroix,Christine Bellané-Chantelot,Denis Le Paslier,Daniel Cohen,Christine Petit +20 more
TL;DR: The analysis of a de novo 8q12.2-q21.2 deletion suggests that reduced dosage of the relevant genes is sufficient to cause Duane syndrome, BOR syndrome and this dominant form of hydrocephalus.