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Genetic Counselling Pitfall: Co-Occurrence of an 11.8-Mb Xp22 Duplication and an Xp21.2 Duplication Disrupting IL1RAPL1.
Published in:
Molecular Syndromology, 2017, v. 8, n. 6, p. 325, doi. 10.1159/000479455
By:
- Chatron, Nicolas;
- Thibault, Lucie;
- Lespinasse, James;
- Labalme, Audrey;
- Schluth-Bolard, Caroline;
- Till, Marianne;
- Edery, Patrick;
- Touraine, Renaud;
- Portes, Vincent des;
- Lesca, Gaetan;
- Sanlaville, Damien
Publication type:
Article
Behavioral disturbance and treatment strategies in Smith-Magenis syndrome.
Published in:
Orphanet Journal of Rare Diseases, 2015, v. 10, n. 1, p. 1, doi. 10.1186/s13023-015-0330-x
By:
- Poisson, Alice;
- Nicolas, Alain;
- Cochat, Pierre;
- Sanlaville, Damien;
- Rigard, Caroline;
- de Leersnyder, Hélène;
- Franco, Patricia;
- Des Portes, Vincent;
- Edery, Patrick;
- Demily, Caroline
Publication type:
Article
Behavioral disturbance and treatment strategies in Smith-Magenis syndrome.
Published in:
Orphanet Journal of Rare Diseases, 2015, v. 10, n. 1, p. 1, doi. 10.1186/s13023-015-0330-x
By:
- Poisson, Alice;
- Nicolas, Alain;
- Cochat, Pierre;
- Sanlaville, Damien;
- Rigard, Caroline;
- de Leersnyder, Hélène;
- Franco, Patricia;
- Des Portes, Vincent;
- Edery, Patrick;
- Demily, Caroline
Publication type:
Article
The effect of methylphenidate on neurofibromatosis type 1: a randomised, doubleblind, placebo-controlled, crossover trial.
Published in:
Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. 2, doi. 10.1186/s13023-014-0142-4
By:
- Lion-François, Laurence;
- Gueyffier, François;
- Mercier, Catherine;
- Gérard, Daniel;
- Herbillon, Vania;
- Kemlin, Isabelle;
- Rodriguez, Diana;
- Ginhoux, Tiphanie;
- Peyric, Emeline;
- Coutinho, Virginie;
- Bréant, Valentine;
- Portes, Vincent des;
- Pinson, Stéphane;
- Combemale, Patrick;
- Kassaï, Behrouz
Publication type:
Article
The effect of methylphenidate on neurofibromatosis type 1: a randomised, double-blind, placebo-controlled, crossover trial.
Published in:
2014
By:
- Lion-François, Laurence;
- Gueyffier, François;
- Mercier, Catherine;
- Gérard, Daniel;
- Herbillon, Vania;
- Kemlin, Isabelle;
- Rodriguez, Diana;
- Ginhoux, Tiphanie;
- Peyric, Emeline;
- Coutinho, Virginie;
- Bréant, Valentine;
- des Portes, Vincent;
- Pinson, Stéphane;
- Combemale, Patrick;
- Kassaï, Behrouz;
- Réseau NF1 Rhône Alpes Auvergne-France
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
KCNT1 epilepsy with migrating focal seizures shows a temporal sequence with poor outcome, high mortality and SUDEP.
Published in:
2019
By:
- Kuchenbuch, Mathieu;
- Barcia, Giulia;
- Chemaly, Nicole;
- Carme, Emilie;
- Roubertie, Agathe;
- Gibaud, Marc;
- Bogaert, Patrick Van;
- Martin, Anne de Saint;
- Hirsch, Edouard;
- Dubois, Fanny;
- Sarret, Catherine;
- Tich, Sylvie Nguyen The;
- Laroche, Cecile;
- Portes, Vincent des;
- Villemeur, Thierry Billette de;
- Barthez, Marie-Anne;
- Auvin, Stéphane;
- Bahi-Buisson, Nadia;
- Desguerre, Isabelle;
- Kaminska, Anna
Publication type:
journal 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
Further delineation of the clinical spectrum of de novo TRIM8 truncating mutations.
Published in:
American Journal of Medical Genetics. Part A, 2018, v. 176, n. 11, p. 2470, doi. 10.1002/ajmg.a.40357
By:
- Assoum, Mirna;
- Lines, Matthew A.;
- Elpeleg, Orly;
- Darmency, Véronique;
- Whiting, Sharon;
- Edvardson, Simon;
- Devinsky, Orrin;
- Heinzen, Erin;
- Hernan, Rebecca Rose;
- Antignac, Corinne;
- Deleuze, Jean‐François;
- Des Portes, Vincent;
- Bertholet‐Thomas, Aurélie;
- Belot, Alexandre;
- Geller, Eric;
- Lemesle, Martine;
- Duffourd, Yannis;
- Thauvin‐Robinet, Christel;
- Thevenon, Julien;
- Chung, Wendy
Publication type:
Article
RPL10 mutation segregating in a family with X-linked syndromic Intellectual Disability.
Published in:
American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 8, p. 1908, doi. 10.1002/ajmg.a.37094
By:
- Thevenon, Julien;
- Michot, Caroline;
- Bole, Christine;
- Nitschke, Patrick;
- Nizon, Mathilde;
- Faivre, Laurence;
- Munnich, Arnold;
- Lyonnet, Stanislas;
- Bonnefont, Jean‐Paul;
- Portes, Vincent Des;
- Amiel, Jeanne
Publication type:
Article
Complex mosaic CDKL5 deletion with two distinct mutant alleles in a 4-year-old girl.
Published in:
American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 8, p. 2025, doi. 10.1002/ajmg.a.36547
By:
- Boutry‐Kryza, Nadia;
- Ville, Dorothée;
- Labalme, Audrey;
- Calender, Alain;
- Dupont, Jean‐Michel;
- Touraine, Renaud;
- Edery, Patrick;
- des Portes, Vincent;
- Sanlaville, Damien;
- Lesca, Gaetan
Publication type:
Article
Clinical and neurocognitive characterization of a family with a novel MED12 gene frameshift mutation.
Published in:
American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 12, p. 3063, doi. 10.1002/ajmg.a.36162
By:
- Lesca, Gaetan;
- Moizard, Marie‐Pierre;
- Bussy, Gerald;
- Boggio, Dominique;
- Hu, Hao;
- Haas, Stefan A.;
- Ropers, Hans‐Hilger;
- Kalscheuer, Vera M.;
- Des Portes, Vincent;
- Labalme, Audrey;
- Sanlaville, Damien;
- Edery, Patrick;
- Raynaud, Martine;
- Lespinasse, James
Publication type:
Article
FACL4, encoding fatty acid-CoA ligase 4, is mutated in nonspecific X-linked mental retardation.
Published in:
Nature Genetics, 2002, v. 30, n. 4, p. 436, doi. 10.1038/ng857
By:
- Meloni, Ilaria;
- Muscettola, Maddalena;
- Raynaud, Martine;
- Longo, Ilaria;
- Bruttini, Mirella;
- Moizard, Marie-Pierre;
- Gomot, Marie;
- Chelly, Jamel;
- des Portes, Vincent;
- Fryns, Jean-Pierre;
- Ropers, Hans-Hilger;
- Magi, Barbara;
- Bellan, Cristina;
- Volpi, Nila;
- Yntema, Helger G.;
- Lewis, Sarah E.;
- Schaffer, Jean E.;
- Renieri, Alessandra
Publication type:
Article
A new gene involved in X-linked mental retardation identified by analysis of an X;2 balanced translocation.
Published in:
Nature Genetics, 2000, v. 24, n. 2, p. 167, doi. 10.1038/72829
By:
- Zemni, Ramzi;
- Bienvenu, Thierry;
- Vinet, Marie C.;
- Sefiani, Aziz;
- Carrié, Alain;
- Billuart, Pierre;
- McDonell, Nathalie;
- Couvert, Philippe;
- Francis, Fiona;
- Chafey, Philippe;
- Fauchereau, Fabien;
- Friocourt, Gaelle;
- Portes, Vincent des;
- Cardona, Anna;
- Frints, Suzanna;
- Meindl, Alfonse;
- Brandau, Oliver;
- Ronce, Nathalie;
- Moraine, Claude
Publication type:
Article
Unexplained mental retardation: is brain MRI useful?
Published in:
2005
By:
- Decobert, Fabrice;
- Grabar, Sophie;
- Merzoug, Valerie;
- Kalifa, Gabriel;
- x00E9;rard#Ponsot, G&;
- Adamsbaum, Catherine;
- des Portes, Vincent;
- Ponsot, Gérard
Publication type:
journal article
Placebo Responses in Genetically Determined Intellectual Disability: A Meta-Analysis.
Published in:
PLoS ONE, 2015, v. 10, n. 7, p. 1, doi. 10.1371/journal.pone.0133316
By:
- Curie, Aurore;
- Yang, Kathy;
- Kirsch, Irving;
- Gollub, Randy L.;
- des Portes, Vincent;
- Kaptchuk, Ted J.;
- Jensen, Karin B.
Publication type:
Article
Syntax at Hand: Common Syntactic Structures for Actions and Language.
Published in:
PLoS ONE, 2013, v. 8, n. 8, p. 1, doi. 10.1371/journal.pone.0072677
By:
- Roy, Alice C.;
- Curie, Aurore;
- Nazir, Tatjana;
- Paulignan, Yves;
- des Portes, Vincent;
- Fourneret, Pierre;
- Deprez, Viviane
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
Ring 14 chromosome presenting as early-onset isolated partial epilepsy.
Published in:
Developmental Medicine & Child Neurology, 2009, v. 51, n. 11, p. 917, doi. 10.1111/j.1469-8749.2009.03292.x
By:
- VILLE, DOROTHÉE;
- DE BELLESCIZE, JULITTA;
- NGUYEN, MARIE ANGE;
- TESTARD, HERVÉ;
- GAUTIER, AGNÈS;
- PERRIER, JULIE;
- TILL, MARIANNE;
- DES PORTES, VINCENT
Publication type:
Article
Prenatal Imaging Features and Postnatal Outcome of Short Corpus Callosum: A Series of 42 Cases.
Published in:
Fetal Diagnosis & Therapy, 2021, v. 48, n. 3, p. 217, doi. 10.1159/000512953
By:
- Bartholmot, Caroline;
- Cabet, Sara;
- Massoud, Mona;
- Massardier, Jérôme;
- Fichez, Axel;
- Portes, Vincent Des;
- Guibaud, Laurent
Publication type:
Article
Expanding Porencephalic Cysts: Prenatal Imaging and Differential Diagnosis.
Published in:
2017
By:
- abergel, adva;
- Lacalm, audrey;
- Massoud, Mona;
- Massardier, Jérôme;
- des Portes, Vincent;
- Guibaud, Laurent
Publication type:
journal article
MCT8 mutation analysis and identification of the first female with Allan–Herndon–Dudley syndrome due to loss of MCT8 expression.
Published in:
European Journal of Human Genetics, 2008, v. 16, n. 9, p. 1029, doi. 10.1038/ejhg.2008.66
By:
- Frints, Suzanna Gerarda Maria;
- Lenzner, Steffen;
- Bauters, Mareike;
- Jensen, Lars Riff;
- Van Esch, Hilde;
- des Portes, Vincent;
- Moog, Ute;
- Macville, Merryn Victor Erik;
- van Roozendaal, Kees;
- Schrander-Stumpel, Constance Theresia Rimbertha Maria;
- Tzschach, Andreas;
- Marynen, Peter;
- Fryns, Jean-Pierre;
- Hamel, Ben;
- van Bokhoven, Hans;
- Chelly, Jamel;
- Beldjord, Chérif;
- Turner, Gillian;
- Gecz, Jozef;
- Moraine, Claude
Publication type:
Article
Linkage of X-linked myopathy with excessive autophagy (XMEA) to Xq28.
Published in:
European Journal of Human Genetics, 2000, v. 8, n. 2, p. 125, doi. 10.1038/sj.ejhg.5200432
By:
- Villard, Laurent;
- des Portes, Vincent;
- Levy, Nicolas;
- Louboutin, Jean-Pierre;
- Recan, Dominique;
- Coquet, Michelle;
- Chabrol, Brigitte;
- Figarella-Branger, Dominique;
- Chelly, Jamel;
- Pellissier, Jean-François;
- Fontes, Michel
Publication type:
Article
Identifying elevated plasma free triiodothyronine levels: age-adapted reference intervals for pediatrics.
Published in:
Journal of Pediatric Endocrinology & Metabolism, 2023, v. 36, n. 5, p. 478, doi. 10.1515/jpem-2022-0330
By:
- Janot, Clément;
- Perrin, Pauline;
- Bretones, Patricia;
- Plotton, Ingrid;
- Roucher-Boulez, Florence;
- des Portes, Vincent;
- Raverot, Véronique
Publication type:
Article
The French Version of the DABS: Adaptation Process and Preliminary Field Test.
Published in:
American Journal on Intellectual & Developmental Disabilities, 2023, v. 128, n. 2, p. 176, doi. 10.1352/1944-7558-128.2.176
By:
- von Rotz, Lorna;
- Courbois, Yannick;
- Portes, Vincent Des;
- Lacroix, Agnès;
- Reymond, Marie-Pierre;
- Tassé, Marc J.;
- Touil, Nathalie;
- Tsao, Raphaele;
- Straccia., Claudio
Publication type:
Article
GPR56-related bilateral frontoparietal polymicrogyria: further evidence for an overlap with the cobblestone complex.
Published in:
Brain: A Journal of Neurology, 2010, v. 133, n. 11, p. 3194, doi. 10.1093/brain/awq259
By:
- Bahi-Buisson, Nadia;
- Poirier, Karine;
- Boddaert, Nathalie;
- Fallet-Bianco, Catherine;
- Specchio, Nicola;
- Bertini, Enrico;
- Caglayan, Okay;
- Lascelles, Karine;
- Elie, Caroline;
- Rambaud, Jérôme;
- Baulac, Michel;
- An, Isabelle;
- Dias, Patricia;
- Portes, Vincent des;
- Moutard, Marie Laure;
- Soufflet, Christine;
- Maleh, Monique El;
- Beldjord, Cherif;
- Villard, Laurent;
- Chelly, Jamel
Publication type:
Article
GRIN1 variants associated with neurodevelopmental disorders reveal channel gating pathomechanisms.
Published in:
Epilepsia (Series 4), 2023, v. 64, n. 12, p. 3377, doi. 10.1111/epi.17776
By:
- Ragnarsson, Lotten;
- Zhang, Zihan;
- Das, Sooraj S.;
- Tran, Poanna;
- Andersson, Åsa;
- des Portes, Vincent;
- Desmettre Altuzarra, Cecilia;
- Remerand, Ganaelle;
- Labalme, Audrey;
- Chatron, Nicolas;
- Sanlaville, Damien;
- Lesca, Gaetan;
- Anggono, Victor;
- Vetter, Irina;
- Keramidas, Angelo
Publication type:
Article
PIGN encephalopathy: Characterizing the epileptology.
Published in:
Epilepsia (Series 4), 2022, v. 63, n. 4, p. 974, doi. 10.1111/epi.17173
By:
- Bayat, Allan;
- de Valles‐Ibáñez, Guillem;
- Pendziwiat, Manuela;
- Knaus, Alexej;
- Alt, Kerstin;
- Biamino, Elisa;
- Bley, Annette;
- Calvert, Sophie;
- Carney, Patrick;
- Caro‐Llopis, Alfonso;
- Ceulemans, Berten;
- Cousin, Janice;
- Davis, Suzanne;
- des Portes, Vincent;
- Edery, Patrick;
- England, Eleina;
- Ferreira, Carlos;
- Freeman, Jeremy;
- Gener, Blanca;
- Gorce, Magali
Publication type:
Article
Characterization of two familial cases presenting with a syndromic specific learning disorder and carrying (17q;21q) unbalanced translocations.
Published in:
Clinical Case Reports, 2018, v. 6, n. 5, p. 827, doi. 10.1002/ccr3.1450
By:
- Coton, Julie;
- Labalme, Audrey;
- Till, Marianne;
- Bussy, Gerald;
- Krifi Papoz, Sonia;
- Lesca, Gaetan;
- Heron, Delphine;
- Sanlaville, Damien;
- Edery, Patrick;
- des Portes, Vincent;
- Rossi, Massimiliano
Publication type:
Article
Mavoglurant in fragile X syndrome: Results of two randomized, double-blind, placebo-controlled trials.
Published in:
Science Translational Medicine, 2016, v. 8, n. 321, p. 1, doi. 10.1126/scitranslmed.aab4109
By:
- Berry-Kravis, Elizabeth;
- Des Portes, Vincent;
- Hagerman, Randi;
- Jacquemont, Sébastien;
- Charles, Perrine;
- Visootsak, Jeannie;
- Brinkman, Marc;
- Rerat, Karin;
- Koumaras, Barbara;
- Liansheng Zhu;
- Barth, Gottfried Maria;
- Jaecklin, Thomas;
- Apostol, George;
- von Raison, Florian
Publication type:
Article
The epilepsy phenotypic spectrum associated with a recurrent CUX2 variant.
Published in:
2018
By:
- Chatron, Nicolas;
- Møller, Rikke S.;
- Champaigne, Neena L.;
- Schneider, Amy L.;
- Kuechler, Alma;
- Labalme, Audrey;
- Simonet, Thomas;
- Baggett, Lauren;
- Bardel, Claire;
- Kamsteeg, Erik‐jan;
- Pfundt, Rolph;
- Romano, Corrado;
- Aronsson, Johan;
- Alberti, Antonino;
- Vinci, Mirella;
- Miranda, Maria J.;
- Lacroix, Amy;
- Marjanovic, Dragan;
- Des Portes, Vincent;
- Edery, Patrick
Publication type:
journal article
Pelizaeus-Merzbacher-Like disease presentation of MCT8 mutated male subjects.
Published in:
Annals of Neurology, 2009, v. 65, n. 1, p. 114, doi. 10.1002/ana.21579
By:
- Vaurs-Barrière, Catherine;
- Deville, Marlène;
- Sarret, Catherine;
- Giraud, Geneviève;
- Des Portes, Vincent;
- Prats-Viñas, José-Maria;
- De Michele, Giuseppe;
- Dan, Bernard;
- Brady, Angela F.;
- Boespflug-Tanguy, Odile;
- Touraine, Renaud
Publication type:
Article
Epigenetic Modification of the FMR1 Gene in Fragile X Syndrome Is Associated with Differential Response to the mGluR5 Antagonist AFQ056.
Published in:
Science Translational Medicine, 2011, v. 3, n. 64, p. 1, doi. 10.1126/scitranslmed.3001708
By:
- Jacquemont, Sébastien;
- Curie, Aurore;
- des Portes, Vincent;
- Torrioli, Maria Giulia;
- Berry-Kravis, Elizabeth;
- Hagerman, Randi J.;
- Ramos, Feliciano J.;
- Cornish, Kim;
- Yunsheng He;
- Paulding, Charles;
- Neri, Giovanni;
- Fei Chen;
- Hadjikhani, Nouchine;
- Martinet, Danielle;
- Meyer, Joanne;
- Beckmann, Jacques S.;
- Delange, Karine;
- Brun, Amandine;
- Bussy, Gerald;
- Gasparini, Fabrizio
Publication type:
Article
Motor resonance facilitates movement execution: an ERP and kinematic study.
Published in:
Frontiers in Human Neuroscience, 2013, v. 7, p. 1, doi. 10.3389/fnhum.2013.00646
By:
- Ménoret, Mathilde;
- Curie, Aurore;
- des Portes, Vincent;
- Nazir, Tatjana A.;
- Paulignan, Yves
Publication type:
Article
Motor resonance facilitates movement execution: an ERP and kinematic study.
Published in:
Frontiers in Human Neuroscience, 2013, v. 7, p. 1, doi. 10.3389/fnhum.2013.00646
By:
- Ménoret, Mathilde;
- Curie, Aurore;
- des-Portes, Vincent;
- Nazir, Tatjana A.;
- Paulignan, Yves
Publication type:
Article
Fetal and perinatal outcome associated with small cerebellar diameter based on second- or third-trimester ultrasonography.
Published in:
2019
By:
- Atallah, Anthony;
- Guibaud, Laurent;
- Gaucherand, Pascal;
- Massardier, Jerome;
- des Portes, Vincent;
- Massoud, Mona
Publication type:
journal article
Prenatal diagnosis of 'isolated' Dandy-Walker malformation: imaging findings and prenatal counseling.
Published in:
Prenatal Diagnosis, 2012, v. 32, n. 5, p. 506, doi. 10.1002/pd.3895
By:
- Guibaud, Laurent;
- Larroque, Anne;
- Ville, Dorothée;
- Sanlaville, Damien;
- Till, Marianne;
- Gaucherand, Pascal;
- Pracros, Jean-Pierre;
- des Portes, Vincent
Publication type:
Article
Relevance of Different Cellular Models in Determining the Effects of Mutations on SLC16 A2/ MCT8 Thyroid Hormone Transporter Function and Genotype-Phenotype Correlation.
Published in:
Human Mutation, 2013, v. 34, n. 7, p. 1018, doi. 10.1002/humu.22331
By:
- Capri, Yline;
- Friesema, Edith C.H.;
- Kersseboom, Simone;
- Touraine, Renaud;
- Monnier, Aurélie;
- Eymard‐Pierre, Eléonore;
- Des Portes, Vincent;
- De Michele, Giusseppe;
- Brady, Angela F.;
- Boespflug‐Tanguy, Odile;
- Visser, Theo J.;
- Vaurs‐Barriere, Catherine
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
Mavoglurant in Fragile X Syndrome: Results of two open-label, extension trials in adults and adolescents.
Published in:
Scientific Reports, 2018, v. 8, n. 1, p. 1, doi. 10.1038/s41598-018-34978-4
By:
- Hagerman, Randi;
- Jacquemont, Sebastien;
- Berry-Kravis, Elizabeth;
- Des Portes, Vincent;
- Stanfield, Andrew;
- Koumaras, Barbara;
- Rosenkranz, Gerd;
- Murgia, Alessandra;
- Wolf, Christian;
- Apostol, George;
- von Raison, Florian
Publication type:
Article
Anxiety, concerns and COVID-19: Cross-country perspectives from families and individuals with neurodevelopmental conditions.
Published in:
Journal of Global Health, 2023, v. 13, p. 1, doi. 10.7189/jogh.13.04081
By:
- Sideropoulos, Vassilis;
- Herwegen, Jo Van;
- Meuleman, Ben;
- Alessandri, Michael;
- Alnemary, Faisal M.;
- Rad, Jamal Amani;
- Lavenex, Pamela A. Banta;
- Bolshakov, Nikita;
- Bölte, Sven;
- Buffle, Paulina;
- Cai, Ru Y.;
- Campos, Ruth;
- Chirita-Emandi, Adela;
- Costa, Andreia P.;
- Costanzo, Floriana;
- Des Portes, Vincent;
- Dukes, Daniel;
- Faivre, Laurence;
- Famelart, Nawelle;
- Fisher, Marisa H.
Publication type:
Article
MECP2 is highly mutated in X-linked mental retardation.
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Human Molecular Genetics, 2001, v. 10, n. 9, p. 941, doi. 10.1093/hmg/10.9.941
By:
- Couvert, Philippe;
- Bienvenu, Thierry;
- Aquaviva, Cecile;
- Poirier, Karine;
- Moraine, Claude;
- Gendrot, Chantal;
- Verloes, Alain;
- Andrès, Christian;
- Le Fevre, Anne Celine;
- Souville, Isabelle;
- Steffann, Julie;
- des Portes, Vincent;
- Ropers, Hans-Hilger;
- Yntema, Helger G.;
- Fryns, Jean-Pierre;
- Briault, Sylvain;
- Chelly, Jamel;
- Cherif, Beldjord
Publication type:
Article
MECP2 is highly mutated in X-linked mental retardation.
Published in:
Human Molecular Genetics, 2001, v. 10, n. 9, p. 941, doi. 10.1093/hmg/10.9.941
By:
- Couvert, Philippe;
- Bienvenu, Thierry;
- Aquaviva, Cecile;
- Poirier, Karine;
- Moraine, Claude;
- Gendrot, Chantal;
- Verloes, Alain;
- Andrès, Christian;
- Le Fevre, Anne Celine;
- Souville, Isabelle;
- Steffann, Julie;
- des Portes, Vincent;
- Ropers, Hans-Hilger;
- Yntema, Helger G.;
- Fryns, Jean-Pierre;
- Briault, Sylvain;
- Chelly, Jamel
Publication type:
Article
Disruption of PHF21A causes syndromic intellectual disability with craniofacial anomalies, epilepsy, hypotonia, and neurobehavioral problems including autism.
Published in:
Molecular Autism, 2019, v. 10, n. 1, p. N.PAG, doi. 10.1186/s13229-019-0286-0
By:
- Kim, Hyung-Goo;
- Rosenfeld, Jill A.;
- Scott, Daryl A.;
- Bénédicte, Gerard;
- Labonne, Jonathan D.;
- Brown, Jason;
- McGuire, Marianne;
- Mahida, Sonal;
- Naidu, Sakkubai;
- Gutierrez, Jacqueline;
- Lesca, Gaetan;
- des Portes, Vincent;
- Bruel, Ange-Line;
- Sorlin, Arthur;
- Xia, Fan;
- Capri, Yline;
- Muller, Eric;
- McKnight, Dianalee;
- Torti, Erin;
- Rüschendorf, Franz
Publication type:
Article
Characterization of a de novo Supernumerary Neocentric Ring Chromosome Derived from Chromosome 7.
Published in:
Cytogenetic & Genome Research, 2016, v. 147, n. 2/3, p. 111, doi. 10.1159/000442265
By:
- Louvrier, Camille;
- Egea, Grégory;
- Labalme, audrey;
- Des Portes, Vincent;
- Gazzo, Sophie;
- Callet-Bauchu, Evelyne;
- Till, Marianne;
- Sanlaville, Damien;
- Edery, Patrick;
- Schluth-Bolard, Caroline
Publication type:
Article
Oligophrenin-1 encodes a rhoGAP protein involved in X-linked mental retardation.
Published in:
Nature, 1998, v. 392, n. 6679, p. 923, doi. 10.1038/31940
By:
- Billuart, Pierre;
- Bienvenu, Thierry;
- Ronce, Nathalie;
- des Portes, Vincent;
- Vinet, Marie Claude;
- Zemni, Ramzi;
- Crollius, Hughes Roest;
- Carrié, Alain;
- Fauchereau, Fabien;
- Cherry, Michele;
- Briault, Sylvain;
- Hamel, Ben;
- Fryns, Jean-Pierre;
- Beldjord, Cherif;
- Kahn, Axel;
- Moraine, Claude;
- Chelly, Jamel
Publication type:
Article
Non-specific X-linked semidominant mental retardation by mutations in a Rab GDP-dissociation inhibitor.
Published in:
Human Molecular Genetics, 1998, v. 7, n. 8, p. 1311, doi. 10.1093/hmg/7.8.1311
By:
- Bienvenu, Thierry;
- des Portes, Vincent;
- Saint Martin, Anne;
- McDonell, Nathalie;
- Billuart, Pierre;
- Carrié, Alain;
- Vinet, Marie‐Claude;
- Couvert, Philippe;
- Toniolo, Daniela;
- Ropers, Hans‐Hilger;
- Moraine, Claude;
- van Bokhoven, Hans;
- Fryns, Jean‐Pierre;
- Kahn, Axel;
- Beldjord, Cherif;
- Chelly, Jamel
Publication type:
Article
doublecortin is the major gene causing X-linked subcortical laminar heterotopia (SCLH).
Published in:
Human Molecular Genetics, 1998, v. 7, n. 7, p. 1063, doi. 10.1093/hmg/7.7.1063
By:
- des Portes, Vincent;
- Francis, Fiona;
- Pinard, Jean‐Marc;
- Desguerre, Isabelle;
- Moutard, Marie‐Laure;
- Snoeck, Irina;
- Meiners, Linda C.;
- Capron, François;
- Cusmai, Raffaella;
- Ricci, Stefano;
- Motte, Jacques;
- Echenne, Bernard;
- Ponsot, Gérard;
- Dulac, Olivier;
- Chelly, Jamel;
- Beldjord, Cherif
Publication type:
Article

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