Found: 50

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  • Lessons from two series by physicians and caregivers' self‐reported data in DDX3X‐related disorders.

    Published in:
    Molecular Genetics & Genomic Medicine, 2024, v. 12, n. 1, p. 1, doi. 10.1002/mgg3.2363
    By:
    • Ruault, Valentin;
    • Burger, Pauline;
    • Gradels‐Hauguel, Johanna;
    • Ruiz, Nathalie;
    • Jamra, Rami Abou;
    • Afenjar, Alexandra;
    • Alembik, Yves;
    • Alessandri, Jean‐Luc;
    • Arpin, Stéphanie;
    • Barcia, Giulia;
    • Bendová, Šárka;
    • Bruel, Ange‐Line;
    • Charles, Perrine;
    • Chatron, Nicolas;
    • Chopra, Maya;
    • Conrad, Solène;
    • Daire, Valérie Cormier;
    • Cospain, Auriane;
    • Coubes, Christine;
    • Coursimault, Juliette
    Publication type:
    Article

  • Chromosome 14q32.2 Imprinted Region Disruption as an Alternative Molecular Diagnosis of Silver-Russell Syndrome.

    Published in:
    2018
    By:
    • Geoffron, Sophie;
    • Abi Habib, Walid;
    • Chantot-Bastaraud, Sandra;
    • Dubern, Béatrice;
    • Steunou, Virginie;
    • Azzi, Salah;
    • Afenjar, Alexandra;
    • Busa, Tiffanny;
    • Canton, Ana P;
    • Chalouhi, Christel;
    • Dufourg, Marie-Noëlle;
    • Esteva, Blandine;
    • Fradin, Mélanie;
    • Geneviève, David;
    • Heide, Solveig;
    • Isidor, Bertrand;
    • Linglart, Agnès;
    • Morice Picard, Fanny;
    • Naud-Saudreau, Catherine;
    • Oliver Petit, Isabelle
    Publication type:
    journal 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

  • Three new cases of ataxia‐telangiectasia‐like disorder: No impairment of the ATM pathway, but S‐phase checkpoint defect.

    Published in:
    Human Mutation, 2019, v. 40, n. 10, p. 1690, doi. 10.1002/humu.23773
    By:
    • Fiévet, Alice;
    • Bellanger, Dorine;
    • Valence, Stéphanie;
    • Mobuchon, Lenha;
    • Afenjar, Alexandra;
    • Giuliano, Fabienne;
    • Dubois d'Enghien, Catherine;
    • Parfait, Béatrice;
    • Pedespan, Jean‐Michel;
    • Auger, Nathalie;
    • Rieunier, Guillaume;
    • Collet, Agnès;
    • Burglen, Lydie;
    • Stoppa‐Lyonnet, Dominique;
    • Stern, Marc‐Henri
    Publication type:
    Article

  • Encephalopathies with KCNC1 variants: genotype‐phenotype‐functional correlations.

    Published in:
    Annals of Clinical & Translational Neurology, 2019, v. 6, n. 7, p. 1263, doi. 10.1002/acn3.50822
    By:
    • Cameron, Jillian M.;
    • Maljevic, Snezana;
    • Nair, Umesh;
    • Aung, Ye Htet;
    • Cogné, Benjamin;
    • Bézieau, Stéphane;
    • Blair, Edward;
    • Isidor, Bertrand;
    • Zweier, Christiane;
    • Reis, André;
    • Koenig, Mary Kay;
    • Maarup, Timothy;
    • Sarco, Dean;
    • Afenjar, Alexandra;
    • Huq, A. H. M. Mahbubul;
    • Kukolich, Mary;
    • Billette de Villemeur, Thierry;
    • Nava, Caroline;
    • Héron, Bénédicte;
    • Petrou, Steven
    Publication type:
    Article

  • Myhre and LAPS syndromes: clinical and molecular review of 32 patients.

    Published in:
    European Journal of Human Genetics, 2014, v. 22, n. 11, p. 1272, doi. 10.1038/ejhg.2013.288
    By:
    • Michot, Caroline;
    • Le Goff, Carine;
    • Mahaut, Clémentine;
    • Afenjar, Alexandra;
    • Brooks, Alice S;
    • Campeau, Philippe M;
    • Destree, Anne;
    • Di Rocco, Maja;
    • Donnai, Dian;
    • Hennekam, Raoul;
    • Heron, Delphine;
    • Jacquemont, Sébastien;
    • Kannu, Peter;
    • Lin, Angela E;
    • Manouvrier-Hanu, Sylvie;
    • Mansour, Sahar;
    • Marlin, Sandrine;
    • McGowan, Ruth;
    • Murphy, Helen;
    • Raas-Rothschild, Annick
    Publication type:
    Article

  • Myhre and LAPS syndromes: clinical and molecular review of 32 patients.

    Published in:
    European Journal of Human Genetics, 2014, v. 22, n. 11, p. 1340, doi. 10.1038/ejhg.2014.182
    By:
    • Michot, Caroline;
    • Le Goff, Carine;
    • Mahaut, Clémentine;
    • Afenjar, Alexandra;
    • Brooks, Alice S;
    • Campeau, Philippe M;
    • Destree, Anne;
    • Di Rocco, Maja;
    • Donnai, Dian;
    • Hennekam, Raoul;
    • Heron, Delphine;
    • Jacquemont, Sébastien;
    • Kannu, Peter;
    • Lin, Angela E;
    • Manouvrier-Hanu, Sylvie;
    • Mansour, Sahar;
    • Marlin, Sandrine;
    • McGowan, Ruth;
    • Murphy, Helen;
    • Raas-Rothschild, Annick
    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

  • RNA Sequencing and Pathway Analysis Identify Important Pathways Involved in Hypertrichosis and Intellectual Disability in Patients with Wiedemann-Steiner Syndrome.

    Published in:
    NeuroMolecular Medicine, 2018, v. 20, n. 3, p. 409, doi. 10.1007/s12017-018-8502-1
    By:
    • Mietton, Léo;
    • Lebrun, Nicolas;
    • Giurgea, Irina;
    • Goldenberg, Alice;
    • Saintpierre, Benjamin;
    • Hamroune, Juliette;
    • Afenjar, Alexandra;
    • Billuart, Pierre;
    • Bienvenu, Thierry
    Publication type:
    Article

  • Prenatal diagnosis of pontocerebellar hypoplasia with postnatal follow‐up.

    Published in:
    Prenatal Diagnosis, 2024, v. 44, n. 1, p. 35, doi. 10.1002/pd.6495
    By:
    • Jaillard, Alienor;
    • Valence, Stéphanie;
    • Vande Perre, Saskia;
    • Dhombres, Ferdinand;
    • Héron, Delphine;
    • Billette de Villemeur, Thierry;
    • Keren, Boris;
    • Afenjar, Alexandra;
    • Qebibo, Leila;
    • Harion, Madeleine;
    • Quenum‐Miraillet, Geneviève;
    • Rodriguez, Diana;
    • Jouannic, Jean‐Marie;
    • Burglen, Lydie;
    • Garel, Catherine
    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

  • Expanding the phenotypic spectrum of Allan-Herndon-Dudley syndrome in patients with SLC16A2 mutations.

    Published in:
    Developmental Medicine & Child Neurology, 2019, v. 61, n. 12, p. 1439, doi. 10.1111/dmcn.14332
    By:
    • Remerand, Ganaelle;
    • Boespflug‐Tanguy, Odile;
    • Tonduti, Davide;
    • Touraine, Renaud;
    • Rodriguez, Diana;
    • Curie, Aurore;
    • Perreton, Nathalie;
    • Des Portes, Vincent;
    • Sarret, Catherine;
    • Afenjar, Alexandra;
    • Burglen, Lydie;
    • Castellotti, Barbara;
    • Cuntz, Danielle;
    • Desguerre, Isabelle;
    • Doummar, Diane;
    • Estienne, Margherita;
    • Freri, Elena;
    • Heron, Delphine;
    • Moutard, Marie‐Laure;
    • Novara, Francesca
    Publication type:
    Article

  • Sporadic Infantile Epileptic Encephalopathy Caused by Mutations in PCDH19 Resembles Dravet Syndrome but Mainly Affects Females.

    Published in:
    PLoS Genetics, 2009, v. 5, n. 2, p. 1, doi. 10.1371/journal.pgen.1000381
    By:
    • Depienne, Christel;
    • Bouteiller, Delphine;
    • Keren, Boris;
    • Cheuret, Emmanuel;
    • Poirier, Karine;
    • Trouillard, Oriane;
    • Benyahia, Baya;
    • Quelin, Chloé;
    • Carpentier, Wassila;
    • Julia, Sophie;
    • Afenjar, Alexandra;
    • Gautier, Agnès;
    • Rivier, François;
    • Meyer, Sophie;
    • Berquin, Patrick;
    • Hélias, Marie;
    • Py, Isabelle;
    • Rivera, Serge;
    • Bahi-Buisson, Nadia;
    • Gourfinkel-An, Isabelle
    Publication type:
    Article

  • The 22q11 PRODH/DGCR6 deletion is frequent in hyperprolinemic subjects but is not a strong risk factor for ASD.

    Published in:
    American Journal of Medical Genetics. Part B: Neuropsychiatric Genetics, 2016, v. 171B, n. 3, p. 377, doi. 10.1002/ajmg.b.32416
    By:
    • Richard, Anne Claire;
    • Rovelet‐Lecrux, Anne;
    • Delaby, Elsa;
    • Charbonnier, Camille;
    • Thiruvahindrapuram, Bhooma;
    • Hatchwell, Eli;
    • Eis, Peggy S.;
    • Afenjar, Alexandra;
    • Gilbert Dussardier, Brigitte;
    • Scherer, Stephen W.;
    • Betancur, Catalina;
    • Campion, Dominique
    Publication type:
    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

  • Key clinical features to identify girls with CDKL5 mutations.

    Published in:
    Brain: A Journal of Neurology, 2008, v. 131, n. 10, p. 2647, doi. 10.1093/brain/awn197
    By:
    • Nadia Bahi-Buisson;
    • Juliette Nectoux;
    • Haydeé Rosas-Vargas;
    • Mathieu Milh;
    • Nathalie Boddaert;
    • Benoit Girard;
    • Claude Cances;
    • Dorothée Ville;
    • Alexandra Afenjar;
    • Marlène Rio;
    • Delphine Héron;
    • Marie Ange NGuyen Morel;
    • Alexis Arzimanoglou;
    • Christophe Philippe;
    • Philippe Jonveaux;
    • Jamel Chelly;
    • Thierry Bienvenu
    Publication type:
    Article

  • Mutations at a single codon in Mad homology 2 domain of SMAD4 cause Myhre syndrome.

    Published in:
    Nature Genetics, 2012, v. 44, n. 1, p. 85, doi. 10.1038/ng.1016
    By:
    • Le Goff, Carine;
    • Mahaut, Clémentine;
    • Abhyankar, Avinash;
    • Le Goff, Wilfried;
    • Serre, Valérie;
    • Afenjar, Alexandra;
    • Destrée, Anne;
    • di Rocco, Maja;
    • Héron, Delphine;
    • Jacquemont, Sébastien;
    • Marlin, Sandrine;
    • Simon, Marleen;
    • Tolmie, John;
    • Verloes, Alain;
    • Casanova, Jean-Laurent;
    • Munnich, Arnold;
    • Cormier-Daire, Valérie
    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

  • Lessons learned from 40 novel PIGA patients and a review of the literature.

    Published in:
    Epilepsia (Series 4), 2020, v. 61, n. 6, p. 1142, doi. 10.1111/epi.16545
    By:
    • Bayat, Allan;
    • Knaus, Alexej;
    • Pendziwiat, Manuela;
    • Afenjar, Alexandra;
    • Barakat, Tahsin Stefan;
    • Bosch, Friedrich;
    • Callewaert, Bert;
    • Calvas, Patrick;
    • Ceulemans, Berten;
    • Chassaing, Nicolas;
    • Depienne, Christel;
    • Endziniene, Milda;
    • Ferreira, Carlos R.;
    • Moura de Souza, Carolina Fischinger;
    • Freihuber, Cécile;
    • Ganesan, Shiva;
    • Gataullina, Svetlana;
    • Guerrini, Renzo;
    • Guerrot, Anne‐Marie;
    • Hansen, Lars
    Publication type:
    Article

  • Clinical and biological characterization of 20 patients with TANGO2 deficiency indicates novel triggers of metabolic crises and no primary energetic defect.

    Published in:
    Journal of Inherited Metabolic Disease, 2021, v. 44, n. 2, p. 415, doi. 10.1002/jimd.12314
    By:
    • Bérat, Claire‐Marine;
    • Montealegre, Sebastian;
    • Wiedemann, Arnaud;
    • Nuzum, Malou Le Corronc;
    • Blondel, Amélie;
    • Debruge, Hugo;
    • Cano, Aline;
    • Chabrol, Brigitte;
    • Hoebeke, Célia;
    • Polak, Michel;
    • Stoupa, Athanasia;
    • Feillet, François;
    • Torre, Stéphanie;
    • Boddaert, Nathalie;
    • Bruel, Henri;
    • Barth, Magalie;
    • Damaj, Lena;
    • Abi‐Wardé, Marie‐Thérèse;
    • Afenjar, Alexandra;
    • Benoist, Jean‐François
    Publication type:
    Article

  • Serum bikunin isoforms in congenital disorders of glycosylation and linkeropathies.

    Published in:
    Journal of Inherited Metabolic Disease, 2020, v. 43, n. 6, p. 1349, doi. 10.1002/jimd.12291
    By:
    • Haouari, Walid;
    • Dubail, Johanne;
    • Lounis‐Ouaras, Samra;
    • Prada, Pierre;
    • Bennani, Rizk;
    • Roseau, Charles;
    • Huber, Céline;
    • Afenjar, Alexandra;
    • Colin, Estelle;
    • Vuillaumier‐Barrot, Sandrine;
    • Seta, Nathalie;
    • Foulquier, François;
    • Poüs, Christian;
    • Cormier‐Daire, Valérie;
    • Bruneel, Arnaud
    Publication type:
    Article

  • Treatment by oral creatine, L-arginine and L-glycine in six severely affected patients with creatine transporter defect.

    Published in:
    Journal of Inherited Metabolic Disease, 2012, v. 35, n. 1, p. 151, doi. 10.1007/s10545-011-9358-9
    By:
    • Valayannopoulos, Vassili;
    • Boddaert, Nathalie;
    • Chabli, Allel;
    • Barbier, Valerie;
    • Desguerre, Isabelle;
    • Philippe, Anne;
    • Afenjar, Alexandra;
    • Mazzuca, Michel;
    • Cheillan, David;
    • Munnich, Arnold;
    • Keyzer, Yves;
    • Jakobs, Cornelis;
    • Salomons, Gajja;
    • Lonlay, Pascale
    Publication type:
    Article

  • A Distinct Class of Chromoanagenesis Events Characterized by Focal Copy Number Gains.

    Published in:
    Human Mutation, 2016, v. 37, n. 7, p. 661, doi. 10.1002/humu.22984
    By:
    • Masset, Heleen;
    • Hestand, Matthew S.;
    • Esch, Hilde;
    • Kleinfinger, Pascale;
    • Plaisancié, Julie;
    • Afenjar, Alexandra;
    • Molignier, Romain;
    • Schluth‐Bolard, Caroline;
    • Sanlaville, Damien;
    • Vermeesch, Joris R.
    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

  • Heterogeneity of NSD1 alterations in 116 patients with Sotos syndrome.

    Published in:
    Human Mutation, 2007, v. 28, n. 11, p. 1098, doi. 10.1002/humu.20568
    By:
    • Saugier-Veber, Pascale;
    • Bonnet, Céline;
    • Afenjar, Alexandra;
    • Drouin-Garraud, Valérie;
    • Coubes, Christine;
    • Fehrenbach, Séverine;
    • Holder-Espinasse, Muriel;
    • Roume, Joëlle;
    • Malan, Valérie;
    • Portnoi, Marie-France;
    • Jeanne, Nicolas;
    • Baumann, Clarisse;
    • Héron, Delphine;
    • David, Albert;
    • Gérard, Marion;
    • Bonneau, Dominique;
    • Lacombe, Didier;
    • Cormier-Daire, Valérie;
    • Billette de Villemeur, Thierry;
    • Frébourg, Thierry
    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

  • Epileptic patients with de novo STXBP1 mutations: Key clinical features based on 24 cases.

    Published in:
    Epilepsia (Series 4), 2015, v. 56, n. 12, p. 1931, doi. 10.1111/epi.13214
    By:
    • Di Meglio, Chloé;
    • Lesca, Gaetan;
    • Villeneuve, Nathalie;
    • Lacoste, Caroline;
    • Abidi, Affef;
    • Cacciagli, Pierre;
    • Altuzarra, Cécilia;
    • Roubertie, Agathe;
    • Afenjar, Alexandra;
    • Renaldo‐Robin, Florence;
    • Isidor, Bertrand;
    • Gautier, Agnes;
    • Husson, Marie;
    • Cances, Claude;
    • Metreau, Julia;
    • Laroche, Cécile;
    • Chouchane, Mondher;
    • Ville, Dorothée;
    • Marignier, Stéphanie;
    • Rougeot, Christelle
    Publication type:
    Article

  • The three stages of epilepsy in patients with CDKL5 mutations.

    Published in:
    Epilepsia (Series 4), 2008, v. 49, n. 6, p. 1027, doi. 10.1111/j.1528-1167.2007.01520.x
    By:
    • Bahi-Buisson, Nadia;
    • Kaminska, Anna;
    • Boddaert, Nathalie;
    • Rio, Marlène;
    • Afenjar, Alexandra;
    • Gérard, Marion;
    • Giuliano, Fabienne;
    • Motte, Jacques;
    • Héron, Delphine;
    • Morel, Marie Ange N'Guyen;
    • Plouin, Perrine;
    • Richelme, Christian;
    • des Portes, Vincent;
    • Dulac, Olivier;
    • Philippe, Christophe;
    • Chiron, Catherine;
    • Nabbout, Rima;
    • Bienvenu, Thierry
    Publication type:
    Article

  • Spectrum of epilepsy in terminal 1p36 deletion syndrome.

    Published in:
    Epilepsia (Series 4), 2008, v. 49, n. 3, p. 509, doi. 10.1111/j.1528-1167.2007.01424.x
    By:
    • Bahi-Buisson, Nadia;
    • Guttierrez-Delicado, Eva;
    • Soufflet, Christine;
    • Rio, Marlène;
    • Cormier Daire, Valérie;
    • Lacombe, Didier;
    • Héron, Delphine;
    • Verloes, Alain;
    • Zuberi, Sameer;
    • Burglen, Lydie;
    • Afenjar, Alexandra;
    • Moutard, Marie Laure;
    • Edery, Patrick;
    • Novelli, Antonio;
    • Bernardini, Laura;
    • Dulac, Olivier;
    • Nabbout, Rima;
    • Plouin, Perrine;
    • Battaglia, Agatino
    Publication type:
    Article

  • Efficacy of Exome-Targeted Capture Sequencing to Detect Mutations in Known Cerebellar Ataxia Genes.

    Published in:
    JAMA Neurology, 2018, v. 75, n. 5, p. 591, doi. 10.1001/jamaneurol.2017.5121
    By:
    • Coutelier, Marie;
    • Hammer, Monia B.;
    • Stevanin, Giovanni;
    • Monin, Marie-Lorraine;
    • Davoine, Claire-Sophie;
    • Mochel, Fanny;
    • Labauge, Pierre;
    • Ewenczyk, Claire;
    • Ding, Jinhui;
    • Gibbs, J. Raphael;
    • Hannequin, Didier;
    • Melki, Judith;
    • Toutain, Annick;
    • Laugel, Vincent;
    • Forlani, Sylvie;
    • Charles, Perrine;
    • Broussolle, Emmanuel;
    • Thobois, Stéphane;
    • Afenjar, Alexandra;
    • Anheim, Mathieu
    Publication type:
    Article

  • Growth charts in DYRK1A syndrome.

    Published in:
    American Journal of Medical Genetics. Part A, 2024, v. 194, n. 1, p. 9, doi. 10.1002/ajmg.a.63412
    By:
    • Lanvin, Pierre‐Louis;
    • Goronflot, Thomas;
    • Isidor, Bertrand;
    • Nizon, Mathilde;
    • Durand, Benjamin;
    • El Chehadeh, Salima;
    • Geneviève, David;
    • Ruault, Valentin;
    • Fradin, Mélanie;
    • Pasquier, Laurent;
    • Thévenon, Julien;
    • Delobel, Bruno;
    • Burglen, Lydie;
    • Afenjar, Alexandra;
    • Faivre, Laurence;
    • Francannet, Christine;
    • Guerrot, Anne‐Marie;
    • Goldenberg, Alice;
    • Mercier, Sandra;
    • Héron, Delphine
    Publication type:
    Article

  • 1p36 deletion syndrome: Review and mapping with further characterization of the phenotype, a new cohort of 86 patients.

    Published in:
    American Journal of Medical Genetics. Part A, 2023, v. 191, n. 2, p. 445, doi. 10.1002/ajmg.a.63041
    By:
    • Jacquin, Clémence;
    • Landais, Emilie;
    • Poirsier, Céline;
    • Afenjar, Alexandra;
    • Akhavi, Ahmad;
    • Bednarek, Nathalie;
    • Bénech, Caroline;
    • Bonnard, Adeline;
    • Bosquet, Damien;
    • Burglen, Lydie;
    • Callier, Patrick;
    • Chantot‐Bastaraud, Sandra;
    • Coubes, Christine;
    • Coutton, Charles;
    • Delobel, Bruno;
    • Descharmes, Margaux;
    • Dupont, Jean‐Michel;
    • Gatinois, Vincent;
    • Gruchy, Nicolas;
    • Guterman, Sarah
    Publication type:
    Article

  • Phenotypic characterization of seven individuals with Marbach–Schaaf neurodevelopmental syndrome.

    Published in:
    American Journal of Medical Genetics. Part A, 2022, v. 188, n. 9, p. 2627, doi. 10.1002/ajmg.a.62884
    By:
    • Marbach, Felix;
    • Lipska‐Ziętkiewicz, Beata S.;
    • Knurowska, Agata;
    • Michaud, Vincent;
    • Margot, Henri;
    • Lespinasse, James;
    • Tran Mau Them, Frédéric;
    • Coubes, Christine;
    • Park, Joohyun;
    • Grosch, Sarah;
    • Roggia, Cristiana;
    • Grasshoff, Ute;
    • Kalsner, Louisa;
    • Denommé‐Pichon, Anne‐Sophie;
    • Afenjar, Alexandra;
    • Héron, Bénédicte;
    • Keren, Boris;
    • Caro, Pilar;
    • Schaaf, Christian P.
    Publication type:
    Article

  • Pathogenic variants in KCNQ2 cause intellectual deficiency without epilepsy: Broadening the phenotypic spectrum of a potassium channelopathy.

    Published in:
    American Journal of Medical Genetics. Part A, 2021, v. 185, n. 6, p. 1803, doi. 10.1002/ajmg.a.62181
    By:
    • Mary, Laura;
    • Nourisson, Elsa;
    • Feger, Claire;
    • Laugel, Vincent;
    • Chaigne, Denys;
    • Keren, Boris;
    • Afenjar, Alexandra;
    • Billette, Thierry;
    • Trost, Detlef;
    • Cieuta‐Walti, Cécile;
    • Gerard, Bénédicte;
    • Piton, Amélie;
    • Schaefer, Elise
    Publication type:
    Article

  • How chromosomal deletions can unmask recessive mutations? Deletions in 10q11.2 associated with CHAT or SLC18A3 mutations lead to congenital myasthenic syndrome.

    Published in:
    American Journal of Medical Genetics. Part A, 2018, v. 176, n. 1, p. 151, doi. 10.1002/ajmg.a.38515
    By:
    • Schwartz, Mathias;
    • Sternberg, Damien;
    • Whalen, Sandra;
    • Afenjar, Alexandra;
    • Isapof, Arnaud;
    • Chabrol, Brigitte;
    • Portnoï, Marie‐France;
    • Heide, Solveig;
    • Keren, Boris;
    • Chantot‐Bastaraud, Sandra;
    • Siffroi, Jean‐Pierre
    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

  • Phenotype and Genotype in 52 Patients with Rubinstein-Taybi Syndrome Caused by EP300 Mutations.

    Published in:
    American Journal of Medical Genetics. Part A, 2016, v. 170, n. 12, p. 3069, doi. 10.1002/ajmg.a.37940
    By:
    • Fergelot, Patricia;
    • Van Belzen, Martine;
    • Van Gils, Julien;
    • Afenjar, Alexandra;
    • Armour, Christine M.;
    • Arveiler, Benoit;
    • Beets, Lex;
    • Burglen, Lydie;
    • Busa, Tiffany;
    • Collet, Marie;
    • Deforges, Julie;
    • de Vries, Bert B. A.;
    • Dominguez Garrido, Elena;
    • Dorison, Nathalie;
    • Dupont, Juliette;
    • Francannet, Christine;
    • Garciá‐Minaúr, Sixto;
    • Gabau Vila, Elisabeth;
    • Gebre‐Medhin, Samuel;
    • Gener Querol, Blanca
    Publication type:
    Article

  • Variable clinical expression in patients with mosaicism for KCNQ2 mutations.

    Published in:
    American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 10, p. 2314, doi. 10.1002/ajmg.a.37152
    By:
    • Milh, Mathieu;
    • Lacoste, Caroline;
    • Cacciagli, Pierre;
    • Abidi, Affef;
    • Sutera‐Sardo, Julie;
    • Tzelepis, Ilias;
    • Colin, Estelle;
    • Badens, Catherine;
    • Afenjar, Alexandra;
    • Coeslier, Anne Dieux;
    • Dailland, Thomas;
    • Lesca, Gaetan;
    • Philip, Nicole;
    • Villard, Laurent
    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

  • Similar early characteristics but variable neurological outcome of patients with a de novo mutation of KCNQ2.

    Published in:
    Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-80
    By:
    • Milh, Mathieu;
    • Boutry-Kryza, Nadia;
    • Sutera-Sardo, Julie;
    • Mignot, Cyril;
    • Auvin, Stéphane;
    • Lacoste, Caroline;
    • Villeneuve, Nathalie;
    • Roubertie, Agathe;
    • Heron, Bénédicte;
    • Carneiro, Maryline;
    • Kaminska, Anna;
    • Altuzarra, Cécilia;
    • Blanchard, Gaëlle;
    • Ville, Dorothée;
    • Barthez, Marie Anne;
    • Heron, Delphine;
    • Gras, Domitille;
    • Afenjar, Alexandra;
    • Dorison, Nathalie;
    • Doummar, Dianne
    Publication type:
    Article

  • The phenotype of Floating-Harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP.

    Published in:
    Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-63
    By:
    • Nikkel, Sarah M.;
    • Dauber, Andrew;
    • De Munnik, Sonja;
    • Connolly, Meghan;
    • Hood, Rebecca L.;
    • Caluseriu, Oana;
    • Hurst, Jane;
    • Kini, Usha;
    • Nowaczyk, Malgorzata J. M.;
    • Afenjar, Alexandra;
    • Albrecht, Beate;
    • Allanson, Judith E.;
    • Balestri, Paolo;
    • Ben-Omran, Tawfeg;
    • Brancati, Francesco;
    • Cordeiro, Isabel;
    • Santos da Cunha, Bruna;
    • Delaney, Louisa A.;
    • Destrée, Anne;
    • Fitzpatrick, David
    Publication type:
    Article

  • Similar early characteristics but variable neurological outcome of patients with a de novo mutation of KCNQ2.

    Published in:
    2013
    By:
    • Milh, Mathieu;
    • Boutry-Kryza, Nadia;
    • Sutera-Sardo, Julie;
    • Mignot, Cyril;
    • Auvin, Stéphane;
    • Lacoste, Caroline;
    • Villeneuve, Nathalie;
    • Roubertie, Agathe;
    • Heron, Bénédicte;
    • Carneiro, Maryline;
    • Kaminska, Anna;
    • Altuzarra, Cécilia;
    • Blanchard, Gaëlle;
    • Ville, Dorothée;
    • Barthez, Marie Anne;
    • Heron, Delphine;
    • Gras, Domitille;
    • Afenjar, Alexandra;
    • Dorison, Nathalie;
    • Doummar, Dianne
    Publication type:
    journal article

  • The phenotype of Floating-Harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP.

    Published in:
    2013
    By:
    • Nikkel, Sarah M;
    • Dauber, Andrew;
    • de Munnik, Sonja;
    • Connolly, Meghan;
    • Hood, Rebecca L;
    • Caluseriu, Oana;
    • Hurst, Jane;
    • Kini, Usha;
    • Nowaczyk, Malgorzata J M;
    • Afenjar, Alexandra;
    • Albrecht, Beate;
    • Allanson, Judith E;
    • Balestri, Paolo;
    • Ben-Omran, Tawfeg;
    • Brancati, Francesco;
    • Cordeiro, Isabel;
    • da Cunha, Bruna Santos;
    • Delaney, Louisa A;
    • Destrée, Anne;
    • Fitzpatrick, David
    Publication type:
    journal article

  • Screening for primary creatine deficiencies in French patients with unexplained neurological symptoms.

    Published in:
    Orphanet Journal of Rare Diseases, 2012, v. 7, n. 1, p. 96, doi. 10.1186/1750-1172-7-96
    By:
    • Cheillan, David;
    • Joncquel-Chevalier Curt, Marie;
    • Briand, Gilbert;
    • Salomons, Gajja S.;
    • Mention-Mulliez, Karine;
    • Dobbelaere, Dries;
    • Cuisset, Jean-Marie;
    • Lion-Fran‡ois, Laurence;
    • Des Portes, Vincent;
    • Chabli, Allel;
    • Valayannopoulos, Vassili;
    • Benoist, Jean-Fran‡ois;
    • Pinard, Jean-Marc;
    • Simard, Gilles;
    • Douay, Olivier;
    • Deiva, Kumaran;
    • Afenjar, Alexandra;
    • H‚ron, Delphine;
    • Rivier, Fran‡ois;
    • Chabrol, Brigitte
    Publication type:
    Article

  • Infantile hypokinetic-hypotonic syndrome due to two novel mutations of the tyrosine hydroxylase gene.

    Published in:
    Movement Disorders, 2009, v. 24, n. 6, p. 943, doi. 10.1002/mds.22455
    By:
    • Doummar, Diane;
    • Clot, Fabienne;
    • Vidailhet, Marie;
    • Afenjar, Alexandra;
    • Durr, Alexandra;
    • Brice, Alexis;
    • Mignot, Cyril;
    • Guet, Agnès;
    • de Villemeur, Thierry Billette;
    • Rodriguez, Diana
    Publication type:
    Article

  • Cerebral dural arteriovenous fistulas in patients with PTEN‐related hamartoma tumor syndrome.

    Published in:
    Clinical Genetics, 2024, v. 106, n. 1, p. 90, doi. 10.1111/cge.14515
    By:
    • Gerasimenko, Anna;
    • Mignot, Cyril;
    • Naggara, Olivier;
    • Coulet, Florence;
    • Ekram, Samar;
    • Heide, Solveig;
    • Sorato, Clarisse;
    • Mazowiecki, Maxime;
    • Perrin, Laurence;
    • Colas, Chrystelle;
    • Cusin, Veronica;
    • Caux, Frédéric;
    • Dardenne, Antoine;
    • El Chehadeh, Salima;
    • Verloes, Alain;
    • Maurey, Hélène;
    • Afenjar, Alexandra;
    • Petit, Florence;
    • Barete, Stéphane;
    • Boespflug‐Tanguy, Odile
    Publication type:
    Article

  • Characterization of novel CACNA1A splice variants by RNA‐sequencing in patients with episodic or congenital ataxia.

    Published in:
    Clinical Genetics, 2023, v. 104, n. 3, p. 365, doi. 10.1111/cge.14358
    By:
    • Riant, Florence;
    • Burglen, Lydie;
    • Corpechot, Michaelle;
    • Robert, Julien;
    • Durr, Alexandra;
    • Solé, Guilhem;
    • Petit, Florence;
    • Freihuber, Cécile;
    • De Marco, Olivier;
    • Sarret, Catherine;
    • Castelnovo, Giovanni;
    • Devillard, Françoise;
    • Afenjar, Alexandra;
    • Héron, Bénédicte;
    • Lasserve, Elisabeth Tournier
    Publication type:
    Article

  • Clinical and molecular delineation of PUS3‐associated neurodevelopmental disorders.

    Published in:
    Clinical Genetics, 2021, v. 100, n. 5, p. 628, doi. 10.1111/cge.14051
    By:
    • Nøstvik, Miriam;
    • Kateta, Sarah M.;
    • Schönewolf‐Greulich, Bitten;
    • Afenjar, Alexandra;
    • Barth, Magalie;
    • Boschann, Felix;
    • Doummar, Diane;
    • Haack, Tobias B.;
    • Keren, Boris;
    • Livshits, Ludmila A.;
    • Mei, Davide;
    • Park, Joohyun;
    • Pisano, Tiziana;
    • Prouteau, Clement;
    • Umair, Muhammad;
    • Waqas, Ahmed;
    • Ziegler, Alban;
    • Guerrini, Renzo;
    • Møller, Rikke S.;
    • Tümer, Zeynep
    Publication type:
    Article

  • Neuropsychological study in 19 French patients with White‐Sutton syndrome and POGZ mutations.

    Published in:
    Clinical Genetics, 2021, v. 99, n. 3, p. 407, doi. 10.1111/cge.13894
    By:
    • Garde, Aurore;
    • Cornaton, Jenny;
    • Sorlin, Arthur;
    • Moutton, Sébastien;
    • Nicolas, Claire;
    • Juif, Christine;
    • Geneviève, David;
    • Perrin, Laurence;
    • Khau‐Van‐Kien, Philippe;
    • Smol, Thomas;
    • Vincent‐Delorme, Catherine;
    • Isidor, Bertrand;
    • Cogné, Benjamin;
    • Afenjar, Alexandra;
    • Keren, Boris;
    • Coubes, Christine;
    • Prieur, Fabienne;
    • Toutain, Annick;
    • Trousselet, Yann;
    • Bourgouin, Solène
    Publication type:
    Article