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Ketogenic Diet Treatment of Defects in the Mitochondrial Malate Aspartate Shuttle and Pyruvate Carrier.
Published in:
Nutrients, 2022, v. 14, n. 17, p. 3605, doi. 10.3390/nu14173605
By:
- Bölsterli, Bigna K.;
- Boltshauser, Eugen;
- Palmieri, Luigi;
- Spenger, Johannes;
- Brunner-Krainz, Michaela;
- Distelmaier, Felix;
- Freisinger, Peter;
- Geis, Tobias;
- Gropman, Andrea L.;
- Häberle, Johannes;
- Hentschel, Julia;
- Jeandidier, Bruno;
- Karall, Daniela;
- Keren, Boris;
- Klabunde-Cherwon, Annick;
- Konstantopoulou, Vassiliki;
- Kottke, Raimund;
- Lasorsa, Francesco M.;
- Makowski, Christine;
- Mignot, Cyril
Publication type:
Article
A Novel Homozygous TBC1D24 Mutation Causing Multifocal Myoclonus With Cerebellar Involvement.
Published in:
2015
By:
- Doummar, Diane;
- Mignot, Cyril;
- Apartis, Emmanuelle;
- Villard, Laurent;
- Rodriguez, Diana;
- Chantot-Bastauraud, Sandra;
- Burglen, Lydie
Publication type:
case study
A Novel Homozygous TBC 1 D 24 Mutation Causing Multifocal Myoclonus With Cerebellar Involvement.
Published in:
Movement Disorders, 2015, v. 30, n. 10, p. 1431, doi. 10.1002/mds.26303
By:
- Doummar, Diane;
- Mignot, Cyril;
- Apartis, Emmanuelle;
- Villard, Laurent;
- Rodriguez, Diana;
- Chantot‐Bastauraud, Sandra;
- Burglen, Lydie
Publication type:
Article
Variant-specific effects define the phenotypic spectrum of HNRNPH2-associated neurodevelopmental disorders in males.
Published in:
Human Genetics, 2022, v. 141, n. 2, p. 257, doi. 10.1007/s00439-021-02412-x
By:
- Kreienkamp, Hans-Jürgen;
- Wagner, Matias;
- Weigand, Heike;
- McConkie-Rossell, Allyn;
- McDonald, Marie;
- Keren, Boris;
- Mignot, Cyril;
- Gauthier, Julie;
- Soucy, Jean-François;
- Michaud, Jacques L.;
- Dumas, Meghan;
- Smith, Rosemarie;
- Löbel, Ulrike;
- Hempel, Maja;
- Kubisch, Christian;
- Denecke, Jonas;
- Campeau, Philippe M.;
- Bain, Jennifer M.;
- Lessel, Davor
Publication type:
Article
Mutations in the KIF21B kinesin gene cause neurodevelopmental disorders through imbalanced canonical motor activity.
Published in:
Nature Communications, 2020, v. 11, n. 1, p. 1, doi. 10.1038/s41467-020-16294-6
By:
- Asselin, Laure;
- Rivera Alvarez, José;
- Heide, Solveig;
- Bonnet, Camille S.;
- Tilly, Peggy;
- Vitet, Hélène;
- Weber, Chantal;
- Bacino, Carlos A.;
- Baranaño, Kristin;
- Chassevent, Anna;
- Dameron, Amy;
- Faivre, Laurence;
- Hanchard, Neil A.;
- Mahida, Sonal;
- McWalter, Kirsty;
- Mignot, Cyril;
- Nava, Caroline;
- Rastetter, Agnès;
- Streff, Haley;
- Thauvin-Robinet, Christel
Publication type:
Article
Three novel patients with epileptic encephalopathy due to biallelic mutations in the PLCB1 gene.
Published in:
Clinical Genetics, 2020, v. 97, n. 3, p. 477, doi. 10.1111/cge.13696
By:
- Desprairies, Camille;
- Valence, Stéphanie;
- Maurey, Hélène;
- Helal, Suzette I.;
- Weckhuysen, Sarah;
- Soliman, Hala;
- Mefford, Heather C.;
- Spentchian, Myrtille;
- Héron, Delphine;
- Leguern, Eric;
- Nava, Caroline;
- Bouilleret, Viviane;
- Moretti, Raffaella;
- Mignot, Cyril
Publication type:
Article
FLOW CYTOMETRIC ANALYSIS AS A QUICK AND EFFICIENT METHOD FOR MORPHOLOGICAL CHANGES DETERMINATION IN HEMATOLOGICAL DISEASES. RBCs OF GAUCHER DISEASE AS A MODEL.
Published in:
Studia Universitatis Vasile Goldis Seria Stiintele Vietii (Life Sciences Series), 2010, v. 20, n. 2, p. 5
By:
- Gheorghe, Ana-Maria;
- Mignot, Cyril;
- Cotoraci, Coralia;
- Ardelean, Aurel;
- Montreuil, Jean;
- Bratosin, Daniela
Publication type:
Article
The phenotypic and genetic spectrum of patients with heterozygous mutations in cyclin M2 (CNNM2).
Published in:
Human Mutation, 2021, v. 42, n. 4, p. 473, doi. 10.1002/humu.24182
By:
- Franken, Gijs A. C.;
- Müller, Dominik;
- Mignot, Cyril;
- Keren, Boris;
- Lévy, Jonathan;
- Tabet, Anne‐Claude;
- Germanaud, David;
- Tejada, María‐Isabel;
- Kroes, Hester Y.;
- Nievelstein, Rutger A. J.;
- Brimble, Elise;
- Ruzhnikov, Maria;
- Claverie‐Martin, Felix;
- Szczepańska, Maria;
- Ćuk, Martin;
- Latta, Femke;
- Konrad, Martin;
- Martínez‐Cruz, Luis A.;
- Bindels, René J. M.;
- Hoenderop, Joost G. J.
Publication type:
Article
Loss‐of‐function variants in ARHGEF9 are associated with an X‐linked intellectual disability dominant disorder.
Published in:
Human Mutation, 2021, v. 42, n. 5, p. 498, doi. 10.1002/humu.24188
By:
- Ghesh, Leïla;
- Besnard, Thomas;
- Nizon, Mathilde;
- Trochu, Eva;
- Landeau‐Trottier, Gaëlle;
- Breheret, Flora;
- Thauvin‐Robinet, Christel;
- Bruel, Ange‐Line;
- Kuentz, Paul;
- Coubes, Christine;
- Cuisset, Laurence;
- Mignot, Cyril;
- Keren, Boris;
- Bézieau, Stéphane;
- Cogné, Benjamin
Publication type:
Article
Expanding the genetic and phenotypic relevance of KCNB1 variants in developmental and epileptic encephalopathies: 27 new patients and overview of the literature.
Published in:
Human Mutation, 2020, v. 41, n. 1, p. 69, doi. 10.1002/humu.23915
By:
- Bar, Claire;
- Barcia, Giulia;
- Jennesson, Mélanie;
- Le Guyader, Gwenaël;
- Schneider, Amy;
- Mignot, Cyril;
- Lesca, Gaetan;
- Breuillard, Delphine;
- Montomoli, Martino;
- Keren, Boris;
- Doummar, Diane;
- Billette de Villemeur, Thierry;
- Afenjar, Alexandra;
- Marey, Isabelle;
- Gerard, Marion;
- Isnard, Hervé;
- Poisson, Alice;
- Dupont, Sophie;
- Berquin, Patrick;
- Meyer, Pierre
Publication type:
Article
Prospective diagnostic analysis of copy number variants using SNP microarrays in individuals with autism spectrum disorders.
Published in:
European Journal of Human Genetics, 2014, v. 22, n. 1, p. 71, doi. 10.1038/ejhg.2013.88
By:
- Nava, Caroline;
- Keren, Boris;
- Mignot, Cyril;
- Rastetter, Agnès;
- Chantot-Bastaraud, Sandra;
- Faudet, Anne;
- Fonteneau, Eric;
- Amiet, Claire;
- Laurent, Claudine;
- Jacquette, Aurélia;
- Whalen, Sandra;
- Afenjar, Alexandra;
- Périsse, Didier;
- Doummar, Diane;
- Dorison, Nathalie;
- Leboyer, Marion;
- Siffroi, Jean-Pierre;
- Cohen, David;
- Brice, Alexis;
- Héron, Delphine
Publication type:
Article
Snijders Blok–Campeau Syndrome: Description of 20 Additional Individuals with Variants in CHD3 and Literature Review.
Published in:
Genes, 2023, v. 14, n. 9, p. 1664, doi. 10.3390/genes14091664
By:
- Pascual, Patricia;
- Tenorio-Castano, Jair;
- Mignot, Cyril;
- Afenjar, Alexandra;
- Arias, Pedro;
- Gallego-Zazo, Natalia;
- Parra, Alejandro;
- Miranda, Lucia;
- Cazalla, Mario;
- Silván, Cristina;
- Heron, Delphine;
- Keren, Boris;
- Popa, Ioana;
- Palomares, María;
- Rikeros, Emi;
- Ramos, Feliciano J.;
- Almoguera, Berta;
- Ayuso, Carmen;
- Swafiri, Saoud Tahsin;
- Barbero, Ana Isabel Sánchez
Publication type:
Article
Recessive mutations in ATP8A2 cause severe hypotonia, cognitive impairment, hyperkinetic movement disorders and progressive optic atrophy.
Published in:
2018
By:
- McMillan, Hugh J;
- Telegrafi, Aida;
- Singleton, Amanda;
- Cho, Megan T;
- Lelli, Daniel;
- Lynn, Francis C;
- Griffin, Julie;
- Asamoah, Alexander;
- Rinne, Tuula;
- Erasmus, Corrie E;
- Koolen, David A;
- Haaxma, Charlotte A;
- Keren, Boris;
- Doummar, Diane;
- Mignot, Cyril;
- Thompson, Islay;
- Velsher, Lea;
- Dehghani, Mohammadreza;
- Vahidi Mehrjardi, Mohammad Yahya;
- Maroofian, Reza
Publication type:
journal article
Hypomorphic variants of cationic amino acid transporter 3 in males with autism spectrum disorders.
Published in:
Amino Acids, 2015, v. 47, n. 12, p. 2647, doi. 10.1007/s00726-015-2057-3
By:
- Nava, Caroline;
- Rupp, Johanna;
- Boissel, Jean-Paul;
- Mignot, Cyril;
- Rastetter, Agnès;
- Amiet, Claire;
- Jacquette, Aurélia;
- Dupuits, Céline;
- Bouteiller, Delphine;
- Keren, Boris;
- Ruberg, Merle;
- Faudet, Anne;
- Doummar, Diane;
- Philippe, Anne;
- Périsse, Didier;
- Laurent, Claudine;
- Lebrun, Nicolas;
- Guillemot, Vincent;
- Chelly, Jamel;
- Cohen, David
Publication type:
Article
Two Novel Cases of Resistance to Thyroid Hormone Due to THRA Mutation.
Published in:
Thyroid, 2020, v. 30, n. 8, p. 1217, doi. 10.1089/thy.2019.0602
By:
- le Maire, Albane;
- Bouhours-Nouet, Natacha;
- Soamalala, Jessica;
- Mirebeau-Prunier, Delphine;
- Paloni, Matteo;
- Guee, Laura;
- Heron, Delphine;
- Mignot, Cyril;
- Illouz, Frédéric;
- Joubert, Florence;
- Briet, Claire;
- Rodien, Patrice;
- Bourguet, William;
- Flamant, Frédéric;
- Guyot, Romain
Publication type:
Article
Relapsing encephalopathy with cerebellar ataxia related to an ATP1A3 mutation.
Published in:
2015
By:
- Dard, Rodolphe;
- Mignot, Cyril;
- Durr, Alexandra;
- Lesca, Gaetan;
- Sanlaville, Damien;
- Roze, Emmanuel;
- Mochel, Fanny
Publication type:
journal article
Neurodevelopmental phenotypes in individuals with pathogenic variants in CHAMP1.
Published in:
Cold Spring Harbor Molecular Case Studies, 2021, v. 7, n. 4, p. 1, doi. 10.1101/mcs.a006092
By:
- Garrity, Madison;
- Kavus, Haluk;
- Rojas-Vasquez, Marta;
- Valenzuela, Irene;
- Larson, Austin;
- Reed, Sara;
- Bellus, Gary;
- Mignot, Cyril;
- Munnich, Arnold;
- Isidor, Bertrand;
- Chung, Wendy K.
Publication type:
Article
Management of Severe Developmental Regression in an Autistic Child with a 1q21.3 Microdeletion and Self-Injurious Blindness.
Published in:
Case Reports in Psychiatry, 2017, p. 1, doi. 10.1155/2017/7582780
By:
- Cravero, Cora;
- Guinchat, Vincent;
- Xavier, Jean;
- Meunier, Camille;
- Diaz, Lautaro;
- Mignot, Cyril;
- Doummar, Diane;
- Chantot-Bastaraud, Sandra;
- Consoli, Angèle;
- Cohen, David
Publication type:
Article
Novel mutations in PIEZO1 cause an autosomal recessive generalized lymphatic dysplasia with non-immune hydrops fetalis.
Published in:
Nature Communications, 2015, v. 6, n. 9, p. 8085, doi. 10.1038/ncomms9085
By:
- Fotiou, Elisavet;
- Martin-Almedina, Silvia;
- Simpson, Michael A.;
- Lin, Shin;
- Gordon, Kristiana;
- Brice, Glen;
- Atton, Giles;
- Jeffery, Iona;
- Rees, David C.;
- Mignot, Cyril;
- Vogt, Julie;
- Homfray, Tessa;
- Snyder, Michael P.;
- Rockson, Stanley G.;
- Jeffery, Steve;
- Mortimer, Peter S.;
- Mansour, Sahar;
- Ostergaard, Pia
Publication type:
Article
Demyelinating motor neuropathy associated with a homozygous GPT2 pathogenic variant.
Published in:
Muscle & Nerve, 2021, v. 63, n. 5, p. E41, doi. 10.1002/mus.27183
By:
- Ruaud, Lyse;
- Keren, Boris;
- Debs, Rabab;
- Mignot, Cyril;
- Mochel, Fanny
Publication type:
Article
Microcephaly: a radiological review.
Published in:
Pediatric Radiology, 2009, v. 39, n. 8, p. 772, doi. 10.1007/s00247-009-1266-x
By:
- Tarrant, Ailbhe;
- Garel, Catherine;
- Germanaud, David;
- de Villemeur, Thierry Billette;
- Mignot, Cyril;
- Lenoir, Marion;
- le Pointe, Hubert Ducou
Publication type:
Article
Phenotypic and genetic spectrum of ATP6V1A encephalopathy: a disorder of lysosomal homeostasis.
Published in:
2022
By:
- Guerrini, Renzo;
- Mei, Davide;
- Kerti-Szigeti, Katalin;
- Pepe, Sara;
- Koenig, Mary Kay;
- Allmen, Gretchen Von;
- Cho, Megan T;
- McDonald, Kimberly;
- Baker, Janice;
- Bhambhani, Vikas;
- Powis, Zöe;
- Rodan, Lance;
- Nabbout, Rima;
- Barcia, Giulia;
- Rosenfeld, Jill A;
- Bacino, Carlos A;
- Mignot, Cyril;
- Power, Lillian H;
- Harris, Catharine J;
- Marjanovic, Dragan
Publication type:
journal article
Novel GABRA2 variants in epileptic encephalopathy and intellectual disability with seizures.
Published in:
2019
By:
- Maljevic, Snezana;
- Keren, Boris;
- Aung, Ye Htet;
- Forster, Ian C;
- Mignot, Cyril;
- Buratti, Julien;
- Lafitte, Aurélie;
- Freihuber, Cécile;
- Rodan, Lance H;
- Bergin, Ann;
- Hubert, Laurence;
- Poirier, Karine;
- Munnich, Arnold;
- Besmond, Claude;
- Hauser, Natalie;
- Miller, Rebecca;
- McWalter, Kirsty;
- Nabbout, Rima;
- Héron, Delphine;
- Leguern, Eric
Publication type:
letter
GRIN2A-related disorders: genotype and functional consequence predict phenotype.
Published in:
2019
By:
- Strehlow, Vincent;
- Heyne, Henrike O;
- Vlaskamp, Danique R M;
- Marwick, Katie F M;
- Rudolf, Gabrielle;
- Bellescize, Julitta de;
- Biskup, Saskia;
- Brilstra, Eva H;
- Brouwer, Oebele F;
- Callenbach, Petra M C;
- Hentschel, Julia;
- Hirsch, Edouard;
- Kind, Peter C;
- Mignot, Cyril;
- Platzer, Konrad;
- Rump, Patrick;
- Skehel, Paul A;
- Wyllie, David J A;
- Hardingham, Giles E;
- Ravenswaaij-Arts, Conny M A van
Publication type:
journal article
Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders.
Published in:
2017
By:
- Wolff, Markus;
- Johannesen, Katrine M;
- Hedrich, Ulrike B S;
- Masnada, Silvia;
- Rubboli, Guido;
- Gardella, Elena;
- Lesca, Gaetan;
- Ville, Dorothée;
- Milh, Mathieu;
- Villard, Laurent;
- Afenjar, Alexandra;
- Chantot-Bastaraud, Sandra;
- Mignot, Cyril;
- Lardennois, Caroline;
- Nava, Caroline;
- Schwarz, Niklas;
- Gérard, Marion;
- Perrin, Laurence;
- Doummar, Diane;
- Auvin, Stéphane
Publication type:
journal article
ARID1B mutations are the major genetic cause of corpus callosum anomalies in patients with intellectual disability.
Published in:
2016
By:
- Mignot, Cyril;
- Moutard, Marie-Laure;
- Rastetter, Agnès;
- Boutaud, Lucile;
- Heide, Solveig;
- Billette, Thierry;
- Doummar, Diane;
- Garel, Catherine;
- Afenjar, Alexandra;
- Jacquette, Aurélia;
- Lacombe, Didier;
- Verloes, Alain;
- Bole-Feysot, Christine;
- Nitschké, Patrick;
- Masson, Cécile;
- Faudet, Anne;
- Lesne, Fabien;
- Bienvenu, Thierry;
- Alby, Caroline;
- Attié-Bitach, Tania
Publication type:
journal article
PMPCA mutations cause abnormal mitochondrial protein processing in patients with non-progressive cerebellar ataxia.
Published in:
2015
By:
- Jobling, Rebekah K;
- Assoum, Mirna;
- Gakh, Oleksandr;
- Blaser, Susan;
- Raiman, Julian A;
- Mignot, Cyril;
- Roze, Emmanuel;
- Dürr, Alexandra;
- Brice, Alexis;
- Lévy, Nicolas;
- Prasad, Chitra;
- Paton, Tara;
- Paterson, Andrew D;
- Roslin, Nicole M;
- Marshall, Christian R;
- Desvignes, Jean-Pierre;
- Roëckel-Trevisiol, Nathalie;
- Scherer, Stephen W;
- Rouleau, Guy A;
- Mégarbané, André
Publication type:
journal article
The tumour suppressor gene WWOX is mutated in autosomal recessive cerebellar ataxia with epilepsy and mental retardation.
Published in:
Brain: A Journal of Neurology, 2014, v. 137, n. 2, p. 411, doi. 10.1093/brain/awt338
By:
- Mallaret, Martial;
- Synofzik, Matthis;
- Lee, Jaeho;
- Sagum, Cari A.;
- Mahajnah, Muhammad;
- Sharkia, Rajech;
- Drouot, Nathalie;
- Renaud, Mathilde;
- Klein, Fabrice A. C.;
- Anheim, Mathieu;
- Tranchant, Christine;
- Mignot, Cyril;
- Mandel, Jean-Louis;
- Bedford, Mark;
- Bauer, Peter;
- Salih, Mustafa A.;
- Schüle, Rebecca;
- Schöls, Ludger;
- Aldaz, C. Marcelo;
- Koenig, Michel
Publication type:
Article
Molecular and clinical descriptions of patients with GABA<sub>A</sub> receptor gene variants (GABRA1, GABRB2, GABRB3, GABRG2): A cohort study, review of literature, and genotype–phenotype correlation.
Published in:
Epilepsia (Series 4), 2022, v. 63, n. 10, p. 2519, doi. 10.1111/epi.17336
By:
- Maillard, Pierre‐Yves;
- Baer, Sarah;
- Schaefer, Élise;
- Desnous, Béatrice;
- Villeneuve, Nathalie;
- Lépine, Anne;
- Fabre, Alexandre;
- Lacoste, Caroline;
- El Chehadeh, Salima;
- Piton, Amélie;
- Porter, Louise Frances;
- Perriard, Caroline;
- Wardé, Marie‐Thérèse Abi;
- Spitz, Marie‐Aude;
- Laugel, Vincent;
- Lesca, Gaëtan;
- Putoux, Audrey;
- Ville, Dorothée;
- Mignot, Cyril;
- Héron, Delphine
Publication type:
Article
Developmental and epilepsy spectrum of KCNB1 encephalopathy with long‐term outcome.
Published in:
Epilepsia (Series 4), 2020, v. 61, n. 11, p. 2461, doi. 10.1111/epi.16679
By:
- Bar, Claire;
- Kuchenbuch, Mathieu;
- Barcia, Giulia;
- Schneider, Amy;
- Jennesson, Mélanie;
- Le Guyader, Gwenaël;
- Lesca, Gaetan;
- Mignot, Cyril;
- Montomoli, Martino;
- Parrini, Elena;
- Isnard, Hervé;
- Rolland, Anne;
- Keren, Boris;
- Afenjar, Alexandra;
- Dorison, Nathalie;
- Sadleir, Lynette G.;
- Breuillard, Delphine;
- Levy, Raphael;
- Rio, Marlène;
- Dupont, Sophie
Publication type:
Article
Expanding the Phenotype Associated with NAA10-Related N-Terminal Acetylation Deficiency.
Published in:
Human Mutation, 2016, v. 37, n. 8, p. 755, doi. 10.1002/humu.23001
By:
- Saunier, Chloé;
- Støve, Svein Isungset;
- Popp, Bernt;
- Gérard, Bénédicte;
- Blenski, Marina;
- AhMew, Nicholas;
- Bie, Charlotte;
- Goldenberg, Paula;
- Isidor, Bertrand;
- Keren, Boris;
- Leheup, Bruno;
- Lampert, Laetitia;
- Mignot, Cyril;
- Tezcan, Kamer;
- Mancini, Grazia M.S.;
- Nava, Caroline;
- Wasserstein, Melissa;
- Bruel, Ange‐Line;
- Thevenon, Julien;
- Masurel, Alice
Publication type:
Article
Novel KCNQ2 and KCNQ3 Mutations in a Large Cohort of Families with Benign Neonatal Epilepsy: First Evidence for an Altered Channel Regulation by Syntaxin-1 A.
Published in:
Human Mutation, 2014, v. 35, n. 3, p. 356, doi. 10.1002/humu.22500
By:
- Soldovieri, Maria Virginia;
- Boutry‐Kryza, Nadia;
- Milh, Mathieu;
- Doummar, Diane;
- Heron, Benedicte;
- Bourel, Emilie;
- Ambrosino, Paolo;
- Miceli, Francesco;
- Maria, Michela;
- Dorison, Nathalie;
- Auvin, Stephane;
- Echenne, Bernard;
- Oertel, Julie;
- Riquet, Audrey;
- Lambert, Laetitia;
- Gerard, Marion;
- Roubergue, Anne;
- Calender, Alain;
- Mignot, Cyril;
- Taglialatela, Maurizio
Publication type:
Article
Novel comprehensive diagnostic strategy in Pitt-Hopkins syndrome: Clinical score and further delineation of the TCF4 mutational spectrum.
Published in:
Human Mutation, 2012, v. 33, n. 1, p. 64, doi. 10.1002/humu.21639
By:
- Whalen, Sandra;
- Héron, Delphine;
- Gaillon, Thierry;
- Moldovan, Oana;
- Rossi, Massimiliano;
- Devillard, Françoise;
- Giuliano, Fabienne;
- Soares, Gabriela;
- Mathieu-Dramard, Michelle;
- Afenjar, Alexandra;
- Charles, Perrine;
- Mignot, Cyril;
- Burglen, Lydie;
- Van Maldergem, Lionel;
- Piard, Juliette;
- Aftimos, Salim;
- Mancini, Grazia;
- Dias, Patricia;
- Philip, Nicole;
- Goldenberg, Alice
Publication type:
Article
Type I hyperprolinemia: genotype/phenotype correlations.
Published in:
Human Mutation, 2010, v. 31, n. 8, p. 961, doi. 10.1002/humu.21296
By:
- Guilmatre, Audrey;
- Legallic, Solenn;
- Steel, Gary;
- Willis, Alecia;
- Di Rosa, Gabriella;
- Goldenberg, Alice;
- Drouin-Garraud, Valérie;
- Guet, Agnès;
- Mignot, Cyril;
- Des Portes, Vincent;
- Valayannopoulos, Vassili;
- Van Maldergem, Lionel;
- Hoffman, Jodi D.;
- Izzi, Claudia;
- Espil-Taris, Caroline;
- Orcesi, Simona;
- Bonafé, Luisa;
- Le Galloudec, Eric;
- Maurey, Hélène;
- Ioos, Christine
Publication type:
Article
Author Correction: Deficiency of TET3 leads to a genome-wide DNA hypermethylation episignature in human whole blood.
Published in:
2021
By:
- Levy, Michael A.;
- Beck, David B.;
- Metcalfe, Kay;
- Douzgou, Sofia;
- Sithambaram, Sivagamy;
- Cottrell, Trudie;
- Ansar, Muhammad;
- Kerkhof, Jennifer;
- Mignot, Cyril;
- Nougues, Marie-Christine;
- Keren, Boris;
- Moore, Hannah W.;
- Oegema, Renske;
- Giltay, Jacques C.;
- Simon, Marleen;
- van Jaarsveld, Richard H.;
- Bos, Jessica;
- van Haelst, Mieke;
- Motazacker, M. Mahdi;
- Boon, Elles M. J.
Publication type:
Correction Notice
Deficiency of TET3 leads to a genome-wide DNA hypermethylation episignature in human whole blood.
Published in:
NPJ Genomic Medicine, 2021, v. 6, n. 1, p. 1, doi. 10.1038/s41525-021-00256-y
By:
- Levy, Michael A.;
- Beck, David B.;
- Metcalfe, Kay;
- Douzgou, Sofia;
- Sithambaram, Sivagamy;
- Cottrell, Trudie;
- Ansar, Muhammad;
- Kerkhof, Jennifer;
- Mignot, Cyril;
- Nougues, Marie-Christine;
- Keren, Boris;
- Moore, Hannah W.;
- Oegema, Renske;
- Giltay, Jacques C.;
- Simon, Marleen;
- van Jaarsveld, Richard H.;
- Bos, Jessica;
- van Haelst, Mieke;
- Motazacker, M. Mahdi;
- Boon, Elles M. J.
Publication type:
Article
Author Correction: A framework to identify contributing genes in patients with Phelan-McDermid syndrome.
Published in:
2019
By:
- Tabet, Anne-Claude;
- Rolland, Thomas;
- Ducloy, Marie;
- Lévy, Jonathan;
- Buratti, Julien;
- Mathieu, Alexandre;
- Haye, Damien;
- Perrin, Laurence;
- Dupont, Céline;
- Passemard, Sandrine;
- Capri, Yline;
- Verloes, Alain;
- Drunat, Séverine;
- Keren, Boris;
- Mignot, Cyril;
- Marey, Isabelle;
- Jacquette, Aurélia;
- Whalen, Sandra;
- Pipiras, Eva;
- Benzacken, Brigitte
Publication type:
Correction Notice
A framework to identify contributing genes in patients with Phelan-McDermid syndrome.
Published in:
NPJ Genomic Medicine, 2017, v. 2, n. 1, p. N.PAG, doi. 10.1038/s41525-017-0035-2
By:
- Tabet, Anne-Claude;
- Rolland, Thomas;
- Ducloy, Marie;
- Lévy, Jonathan;
- Buratti, Julien;
- Mathieu, Alexandre;
- Haye, Damien;
- Perrin, Laurence;
- Dupont, Céline;
- Passemard, Sandrine;
- Capri, Yline;
- Verloes, Alain;
- Drunat, Séverine;
- Keren, Boris;
- Mignot, Cyril;
- Marey, Isabelle;
- Jacquette, Aurélia;
- Whalen, Sandra;
- Pipiras, Eva;
- Benzacken, Brigitte
Publication type:
Article
A framework to identify contributing genes in patients with Phelan-McDermid syndrome.
Published in:
NPJ Genomic Medicine, 2017, v. 2, n. 1, p. N.PAG, doi. 10.1038/s41525-017-0035-2
By:
- Tabet, Anne-Claude;
- Rolland, Thomas;
- Ducloy, Marie;
- Lévy, Jonathan;
- Buratti, Julien;
- Mathieu, Alexandre;
- Haye, Damien;
- Perrin, Laurence;
- Dupont, Céline;
- Passemard, Sandrine;
- Capri, Yline;
- Verloes, Alain;
- Drunat, Séverine;
- Keren, Boris;
- Mignot, Cyril;
- Marey, Isabelle;
- Jacquette, Aurélia;
- Whalen, Sandra;
- Pipiras, Eva;
- Benzacken, Brigitte
Publication type:
Article
A novel ELOVL4 variant, L168S, causes early childhood-onset Spinocerebellar ataxia-34 and retinal dysfunction: a case report.
Published in:
Acta Neuropathologica Communications, 2023, v. 11, n. 1, p. 1, doi. 10.1186/s40478-023-01628-4
By:
- Gyening, Yeboah Kofi;
- Boris, Keren;
- Cyril, Mignot;
- Brush, Richard S.;
- Nassogne, Marie-Cécile;
- Agbaga, Martin-Paul
Publication type:
Article
The epileptology of GNB5 encephalopathy.
Published in:
Epilepsia (Series 4), 2019, v. 60, n. 11, p. e121, doi. 10.1111/epi.16372
By:
- Poke, Gemma;
- King, Chontelle;
- Muir, Alison;
- Valles‐Ibáñez, Guillem;
- Germano, Michele;
- Moura de Souza, Carolina F.;
- Fung, Jasmine;
- Chung, Brian;
- Fung, Cheuk Wing;
- Mignot, Cyril;
- Ilea, Adina;
- Keren, Boris;
- Vermersch, Anne‐Isabelle;
- Davis, Suzanne;
- Stanley, Thorsten;
- Moharir, Mahendranath;
- Kannu, Peter;
- Shao, Zhuo;
- Malerba, Natascia;
- Merla, Giuseppe
Publication type:
Article
Clinical study of 19 patients with SCN8A‐related epilepsy: Two modes of onset regarding EEG and seizures.
Published in:
Epilepsia (Series 4), 2019, v. 60, n. 5, p. 845, doi. 10.1111/epi.14727
By:
- Denis, Julien;
- Villeneuve, Nathalie;
- Cacciagli, Pierre;
- Mignon‐Ravix, Cecile;
- Lacoste, Caroline;
- Lefranc, Jeremie;
- Napuri, Sylvia;
- Damaj, Lena;
- Villega, Frederic;
- Pedespan, Jean‐Michel;
- Moutton, Sebastien;
- Mignot, Cyril;
- Doummar, Diane;
- Lion‐François, Laurence;
- Gataullina, Svetlana;
- Dulac, Olivier;
- Martin, Melanie;
- Gueden, Sophie;
- Lesca, Gaetan;
- Julia, Sophie
Publication type:
Article
Defining the phenotypic spectrum of <italic>SLC6A1</italic> mutations.
Published in:
Epilepsia (Series 4), 2018, v. 59, n. 2, p. 389, doi. 10.1111/epi.13986
By:
- Johannesen, Katrine M.;
- Gardella, Elena;
- Linnankivi, Tarja;
- Courage, Carolina;
- de Saint Martin, Anne;
- Lehesjoki, Anna‐Elina;
- Mignot, Cyril;
- Afenjar, Alexandra;
- Lesca, Gaetan;
- Abi‐Warde, Marie‐Thérèse;
- Chelly, Jamel;
- Piton, Amélie;
- Merritt, II, J. Lawrence;
- Rodan, Lance H.;
- Tan, Wen‐Hann;
- Bird, Lynne M.;
- Nespeca, Mark;
- Gleeson, Joseph G.;
- Yoo, Yongjin;
- Choi, Murim
Publication type:
Article
STXBP1-related encephalopathy presenting as infantile spasms and generalized tremor in three patients.
Published in:
Epilepsia (Series 4), 2011, v. 52, n. 10, p. 1820, doi. 10.1111/j.1528-1167.2011.03163.x
By:
- Mignot, Cyril;
- Moutard, Marie-Laure;
- Trouillard, Oriane;
- Gourfinkel-An, Isabelle;
- Jacquette, Aurélia;
- Arveiler, Benoit;
- Morice-Picard, Fanny;
- Lacombe, Didier;
- Chiron, Catherine;
- Ville, Dorothée;
- Charles, Perrine;
- LeGuern, Eric;
- Depienne, Christel;
- Héron, Delphine
Publication type:
Article
De novo mutations in the GTP/GDP-binding region of RALA, a RAS-like small GTPase, cause intellectual disability and developmental delay.
Published in:
PLoS Genetics, 2018, v. 14, n. 11, p. 1, doi. 10.1371/journal.pgen.1007671
By:
- Hiatt, Susan M.;
- Neu, Matthew B.;
- Ramaker, Ryne C.;
- Hardigan, Andrew A.;
- Prokop, Jeremy W.;
- Hancarova, Miroslava;
- Prchalova, Darina;
- Havlovicova, Marketa;
- Prchal, Jan;
- Stranecky, Viktor;
- Yim, Dwight K. C.;
- Powis, Zöe;
- Keren, Boris;
- Nava, Caroline;
- Mignot, Cyril;
- Rio, Marlene;
- Revah-Politi, Anya;
- Hemati, Parisa;
- Stong, Nicholas;
- Iglesias, Alejandro D.
Publication type:
Article
Validation of a clinical practice-based algorithm for the diagnosis of autosomal recessive cerebellar ataxias based on NGS identified cases.
Published in:
Journal of Neurology, 2016, v. 263, n. 7, p. 1314, doi. 10.1007/s00415-016-8112-5
By:
- Mallaret, Martial;
- Renaud, Mathilde;
- Redin, Claire;
- Drouot, Nathalie;
- Muller, Jean;
- Severac, Francois;
- Mandel, Jean;
- Hamza, Wahiba;
- Benhassine, Traki;
- Ali-Pacha, Lamia;
- Tazir, Meriem;
- Durr, Alexandra;
- Monin, Marie-Lorraine;
- Mignot, Cyril;
- Charles, Perrine;
- Maldergem, Lionel;
- Chamard, Ludivine;
- Thauvin-Robinet, Christel;
- Laugel, Vincent;
- Burglen, Lydie
Publication type:
Article
De novo variants in TCF7L2 are associated with a syndromic neurodevelopmental disorder.
Published in:
American Journal of Medical Genetics. Part A, 2021, v. 185, n. 8, p. 2384, doi. 10.1002/ajmg.a.62254
By:
- Dias, Caroline;
- Pfundt, Rolph;
- Kleefstra, Tjitske;
- Shuurs‐Hoeijmakers, Janneke;
- Boon, Elles M. J.;
- Hagen, Johanna M.;
- Zwijnenburg, Petra;
- Weiss, Marjan M.;
- Keren, Boris;
- Mignot, Cyril;
- Isapof, Arnaud;
- Weiss, Karin;
- Hershkovitz, Tova;
- Iascone, Maria;
- Maitz, Silvia;
- Feichtinger, René G.;
- Kotzot, Dieter;
- Mayr, Johannes A.;
- Ben‐Omran, Tawfeg;
- Mahmoud, Laila
Publication type:
Article
Expanding the genotype–phenotype correlation of de novo heterozygous missense variants in YWHAG as a cause of developmental and epileptic encephalopathy.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 4, p. 713, doi. 10.1002/ajmg.a.61483
By:
- Kanani, Farah;
- Titheradge, Hannah;
- Cooper, Nicola;
- Elmslie, Frances;
- Lees, Melissa M.;
- Juusola, Jane;
- Pisani, Laura;
- McKenna, Carolyn;
- Mignot, Cyril;
- Valence, Stephanie;
- Keren, Boris;
- Lachlan, Katherine;
- Balasubramanian, Meena
Publication type:
Article
Clinical and molecular cytogenetic characterization of four unrelated patients carrying 2p14 microdeletions.
Published in:
American Journal of Medical Genetics. Part A, 2017, v. 173, n. 8, p. 2268, doi. 10.1002/ajmg.a.38307
By:
- Mathieu, Marie‐Laure;
- Demily, Caroline;
- Chantot‐Bastaraud, Sandra;
- Afenjar, Alexandra;
- Mignot, Cyril;
- Andrieux, Joris;
- Gerard, Marion;
- Catala‐Mora, Jaume;
- Jouk, Pierre Simon;
- Labalme, Audrey;
- Edery, Patrick;
- Sanlaville, Damien;
- Rossi, Massimiliano
Publication type:
Article
Deletion of filamin A in two female patients with periventricular nodular heterotopia.
Published in:
American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 6, p. 1512, doi. 10.1002/ajmg.a.35409
By:
- Chardon, Jodi Warman;
- Mignot, Cyril;
- Aradhya, Swaroop;
- Keren, Boris;
- Afenjar, Alexandra;
- Kaminska, Anna;
- Beldjord, Cherif;
- Héron, Delphine;
- Boycott, Kym M.
Publication type:
Article

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