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Cyril Mignot

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Céline Poirsier-Violle; Azzedine Abourra; Clarisse Baumann; Yline Capri; Séverine Drunat; Cyril Mignot; Sandrine Passemard; Laurence Perrin; Alain Verloes
A de novo 17q21.2 duplication in a boy with developmental delay and dysmorphic features.
Cyril Mignot; M Momtchilova; Sandra Whalen; Thierry Billette de Villemeur; Joseph Bursztyn; Delphine Héron; Anne Legall; Michèle Mayer; Lydie Burglen
Novel mutation in SLC9A6 gene in a patient with Christianson syndrome and retinitis pigmentosum.
Melanie Franco; Olivier Hermine; Caroline Le Van Kim; Nejma Ameziane; Nadia Belmatoug; Thierry Billette de Villemeur; Yves Colin; Emmanuel Collec; Philippe Connes; Emile van den Akker; Marieke von Lindern; Cyril Mignot
Abnormal properties of red blood cells suggest a role in the pathophysiology of Gaucher disease.

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All Publications

2013: Céline Poirsier-Violle; Azzedine Abourra; Clarisse Baumann; Yline Capri; Séverine Drunat; Cyril Mignot; Sandrine Passemard; Laurence Perrin; Alain Verloes
A de novo 17q21.2 duplication in a boy with developmental delay and dysmorphic features.
European journal of medical genetics 2013;56(4):226-8.
2013: Cyril Mignot; M Momtchilova; Sandra Whalen; Thierry Billette de Villemeur; Joseph Bursztyn; Delphine Héron; Anne Legall; Michèle Mayer; Lydie Burglen
Novel mutation in SLC9A6 gene in a patient with Christianson syndrome and retinitis pigmentosum.
Brain & development 2013;35(2):172-6.
2013: Melanie Franco; Olivier Hermine; Caroline Le Van Kim; Nejma Ameziane; Nadia Belmatoug; Thierry Billette de Villemeur; Yves Colin; Emmanuel Collec; Philippe Connes; Emile van den Akker; Marieke von Lindern; Cyril Mignot
Abnormal properties of red blood cells suggest a role in the pathophysiology of Gaucher disease.
Blood 2013;121(3):546-55.
2013: Cyril Mignot; Antoinette Gelot; Thierry Billette de Villemeur
Gaucher disease.
Handbook of clinical neurology 2013;113():1709-15.
2012: Essam Al Ageeli; Joseph Bursztyn; Nathalie Dorison; Béatrice Dubern; Blandine Esteva; Jean-François Le Gargasson; Michèle Mayer; Cyril Mignot; Marta Momtchilova; Sandra Whalen; Alexandra Afenjar; Delphine Héron
Retinal involvement in two unrelated patients with Myhre syndrome.
European journal of medical genetics 2012;55(10):541-7.
2012: Aurélie Méneret; Cyril Mignot; Fabienne Picard; Dominique Steschenko; Christine Tranchant; Marie Vidailhet; Mathieu Anheim; Thierry Billette de Villemeur; Delphine Bouteiller; Alexis Brice; Pierre Burbaud; Christel Depienne; David Devos; Diane Doummar; Alexandra Dürr; Cécile Gaudebout; David Grabli; Domitille Gras; Charles Pierre Jedynak; Isabelle Lagroua; Emmanuel Roze
PRRT2 mutations: a major cause of paroxysmal kinesigenic dyskinesia in the European population.
Neurology 2012;79(2):170-4.
2012: Jodi Warman Chardon; Delphine Héron; Anna Kaminska; Boris Keren; Cyril Mignot; Alexandra Afenjar; Swaroop Aradhya; Cherif Beldjord; Kym M Boycott
Deletion of filamin A in two female patients with periventricular nodular heterotopia.
American journal of medical genetics. Part A 2012;158A(6):1512-6.
2012: Alain Verloes; D Ville; Alexandra Afenjar; Nadia Bahi-Buisson; Clarisse Baumann; Thierry Billette de Villemeur; Lydie Burglen; Perrine Charles; Vincent des Portes; A Faudet; Delphine Héron; Aurélia Jacquette; Cyril Mignot; Marie-Laure Moutard; S Passemard; Marlène Rio; L Robel; C Rougeot
[Diagnostic investigations for an unexplained developmental disability].
Archives de pédiatrie : organe officiel de la Sociéte française de pédiatrie 2012;19(2):194-207.
2012: C Nava; D Périsse; A Rastetter; S Whalen; Alexandra Afenjar; T Bourgeron; D Bouteiller; A Brice; S Caillet; D Cohen; R Delorme; C Dupuits; A Faudet; C Gautier; M Gérard; C Gillberg; M Gilleron; Delphine Héron; G Huguet; Aurélia Jacquette; Boris Keren; F Lamari; C Laurent; M Leboyer; B Leheup; Cyril Mignot; Christel Depienne
Analysis of the chromosome X exome in patients with autism spectrum disorders identified novel candidate genes, including TMLHE.
Translational psychiatry 2012;2():e179.
2012: Jérôme Stirnemann; Vassili Valayanopoulos; marie T vanier; Marie Vigan; Marc G Berger; Catherine Caillaud; Fabrice Camou; Christine de Roux-Serratrice; Thierry Billette de Villemeur; Dries Dobbelaere; Olivier Fain; Bruno Fantin; Roselyne Froissart; Bernard Grosbois; dalil hamroun; Djazia Heraoui; Pierre Kaminsky; Thierry Levade; Agathe Masseau; France Mentré; Cyril Mignot; Alain Robert; Christian Rose; Linda Rossi-Semerano; Frédéric Sedel; Nadia Belmatoug
The French Gaucher's disease registry: clinical characteristics, complications and treatment of 562 patients.
Orphanet journal of rare diseases 2012;7():77.
2012: Aurélie Méneret; Cyril Mignot; Marie Vidailhet; Isabelle An; Thierry Bienvenu; Marie-Odile Habert; Aurélia Jacquette; Emmanuel Roze
Generalized dystonia, athetosis, and parkinsonism associated with FOXG1 mutation.
Movement disorders : official journal of the Movement Disorder Society 2012;27(1):160-1.
2011: Cyril Mignot; Fanny Morice-Picard; Marie-Laure Moutard; Oriane Trouillard; Dorothée Ville; Benoît Arveiler; Perrine Charles; Catherine Chiron; Christel Depienne; Isabelle Gourfinkel-An; Aurélia Jacquette; Didier Lacombe; Eric LeGuern; Delphine Héron
STXBP1-related encephalopathy presenting as infantile spasms and generalized tremor in three patients.
Epilepsia 2011;52(10):1820-7.
2007: Alexandra Afenjar; Marie-Laure Moutard; Diane Doummar; Agnés Guët; Daniel Rabier; Anne-Isabelle Vermersch; Cyril Mignot; Lydie Burglen; Delphine Heron; Elizabeth Thioulouse; Thierry Billette de Villemeur; Dominique Campion; Diana Rodriguez
Early neurological phenotype in 4 children with biallelic PRODH mutations.
Brain & development 2007;29(9):547-52.
2007: Cyril Mignot; Cécile Delarasse; Séverine Escaich; Bruno Della Gaspera; Eric Noé; Emma Colucci-Guyon; Charles Babinet; Milos Pekny; Patrick Vicart; Odile Boespflug-Tanguy; André Dautigny; Diana Rodriguez; Danielle Pham-Dinh
Dynamics of mutated GFAP aggregates revealed by real-time imaging of an astrocyte model of Alexander disease.
Experimental cell research 2007;313(13):2766-79.
2007: S Passemard; Antoinette Gelot; Anne Fogli; S N'guyen; C Barnerias; F Niel; Diane Doummar; A S Arbues; Cyril Mignot; Thierry Billette de Villemeur; Gérard Ponsot; Odile Boespflug-Tanguy; Diana Rodriguez
Progressive megalencephaly due to specific EIF2Bepsilon mutations in two unrelated families.
Neurology 2007;69(4):400-2.
2007: Alexandra Afenjar; Diana Rodriguez; Flore Rozenberg; N Dorison; Agnés Guët; Cyril Mignot; Diane Doummar; Thierry Billette de Villemeur; Gérard Ponsot
[Human herpes virus type 6, etiology of an acute encephalitis in childhood: case report].
Archives de pédiatrie : organe officiel de la Sociéte française de pédiatrie 2007;14(5):472-5.
2006: Armanda Casrouge; Shen-Ying Zhang; Céline Eidenschenk; Emmanuelle Jouanguy; Anne Puel; Kun Yang; Alexandre Alcais; Capucine Picard; Nora Mahfoufi; Nathalie Nicolas; Lazaro LORENZO; Sabine Plancoulaine; Brigitte Sénéchal; Frederic Geissmann; Koichi Tabeta; Kasper Hoebe; Xin Du; Richard L Miller; Bénédicte Héron; Cyril Mignot; Thierry Billette de Villemeur; Pierre Lebon; Olivier Dulac; Flore Rozenberg; Bruce Beutler; Marc Tardieu; Laurent Abel; Jean-Laurent Casanova
Herpes simplex virus encephalitis in human UNC-93B deficiency.
Science (New York, N.Y.) 2006;314(5797):308-12.
2006: Marie-Laure Moutard; Antoinette Gélot; Diana Rodriguez; Agnés Guët; Cyril Mignot; Gérard Ponsot; Thierry Billette de Villemeur
[Fetal neurology: conditions of diagnostic uncertainty].
Archives de pédiatrie : organe officiel de la Sociéte française de pédiatrie 2006;13(6):825-7.
2006: Cyril Mignot; Diane Doummar; Irène Maire; Thierry Billette de Villemeur
Type 2 Gaucher disease: 15 new cases and review of the literature.
Brain & development 2006;28(1):39-48.
2004: Anne Roubergue; Emmanuelle Apartis; Marie Vidailhet; Cyril Mignot; Anna Tullio-Pelet; Stanislas LYONNET; Thierry Billette de Villemeur
Myoclonus and generalized digestive dysmotility in triple A syndrome with AAAS gene mutation.
Movement disorders : official journal of the Movement Disorder Society 2004;19(3):344-6.
2004: Cyril Mignot; Odile Boespflug-Tanguy; Antoinette Gelot; André Dautigny; Danielle Pham-Dinh; Diana Rodriguez
Alexander disease: putative mechanisms of an astrocytic encephalopathy.
Cellular and molecular life sciences : CMLS 2004;61(3):369-85.
2003: Cyril Mignot; Antoinette Gelot; Bettina Bessières; Fernand Daffos; Marcel Voyer; Françoise Menez; Catherine Fallet-Bianco; Sylvie Odent; D Le Duff; Philippe Loget; P Fargier; J Costil; P Josset; Joelle Roume; marie T vanier; I Maire; Thierry Billette de Villemeur
Perinatal-lethal Gaucher disease.
American journal of medical genetics. Part A 2003;120A(3):338-44.
2002: Pascale de Lonlay; O Fenneteau; Guy Touati; Cyril Mignot; Thierry Billette de Villemeur; Daniel Rabier; S Blanche; Hélène Ogier de Baulny; Jean-Marie Saudubray
[Hematologic manifestations of inborn errors of metabolism].
Archives de pédiatrie : organe officiel de la Sociéte française de pédiatrie 2002;9(8):822-35.