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Douniol, Marie [Author]; Jacquette, Aurélia [Author]; Guilé, Jean-Marc [Author]; Tanguy, Marie-Laure [Author]; Angeard, Nathalie [Author]; Héron, Delphine [Author]; Plaza, Monique [Author]; Cohen, David [Author]

Psychiatric and cognitive phenotype in children and adolescents with myotonic dystrophy

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2009
Ricciardi, Sara; Kilstrup-Nielsen, Charlotte; Bienvenu, Thierry; Jacquette, Aurélia; Landsberger, Nicoletta; Broccoli, Vania

CDKL5 influences RNA splicing activity by its association to the nuclear speckle molecular machinery

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Oxford University Press (OUP), 2009

Published in: Human Molecular Genetics, 18 (2009) 23, Seite 4590-4602
Jacquette, Aurelia; Le Roux, Geneviève; Lacombe, Chantal; Goossens, Michel; Pissard, Serge

Compound Heterozygosity for Two New Mutations in the β‐Globin Gene [Codon 9 (+ TA) and Polyadenylation Site (AATAAA→AAAAAA)] Leads to Thalassemia Intermedia in a Tunisian Patient

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Informa UK Limited, 2004

Published in: Hemoglobin, 28 (2004) 3, Seite 243-248
Méneret, Aurélie; Mignot, Cyril; An, Isabelle; Habert, Marie‐Odile; Jacquette, Aurélia; Vidailhet, Marie; Bienvenu, Thierry; Roze, Emmanuel

Generalized dystonia, athetosis, and parkinsonism associated with FOXG1 mutation

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Wiley, 2012

Published in: Movement Disorders, 27 (2012) 1, Seite 160-162
Douniol, Marie; Jacquette, Aurélia; Guilé, Jean-Marc; Tanguy, Marie-Laure; Angeard, Nathalie; Héron, Delphine; Plaza, Monique; Cohen, David

Psychiatric and cognitive phenotype in children and adolescents with myotonic dystrophy

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Springer Science and Business Media LLC, 2009

Published in: European Child & Adolescent Psychiatry, 18 (2009) 12, Seite 705-715
DOUNIOL, MARIE; JACQUETTE, AURÉLIA; COHEN, DAVID; BODEAU, NICOLAS; RACHIDI, LINDA; ANGEARD, NATHALIE; CUISSET, JEAN‐MARIE; VALLÉE, LOUIS; EYMARD, BRUNO; PLAZA, MONIQUE; HÉRON, DELPHINE; GUILÉ, JEAN‐MARC

Psychiatric and cognitive phenotype of childhood myotonic dystrophy type 1

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Wiley, 2012

Published in: Developmental Medicine & Child Neurology, 54 (2012) 10, Seite 905-911
Bahi‐Buisson, Nadia; Villeneuve, Nathalie; Caietta, Emilie; Jacquette, Aurélia; Maurey, Helene; Matthijs, Gert; Van Esch, Hilde; Delahaye, Andrée; Moncla, Anne; Milh, Mathieu; Zufferey, Flore; Diebold, Bertrand; Bienvenu, Thierry

Recurrent mutations in the CDKL5 gene: Genotype–phenotype relationships

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Wiley, 2012

Published in: American Journal of Medical Genetics Part A, 158A (2012) 7, Seite 1612-1619
Keren, Boris; Jacquette, Aurélia; Depienne, Christel; Leite, Patricia; Durr, Alexandra; Carpentier, Wassila; Benyahia, Baya; Ponsot, Gerard; Soubrier, Florent; Brice, Alexis; Héron, Delphine

Evidence against haploinsuffiency of human ataxin 10 as a cause of spinocerebellar ataxia type 10

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Springer Science and Business Media LLC, 2010

Published in: neurogenetics, 11 (2010) 2, Seite 273-274
Geneviève, David; Héron, Delphine; El Ghouzzi, Vincent; Prost-Squarcioni, Catherine; Le Merrer, Martine; Jacquette, Aurélia; Sanlaville, Damien; Pinton, Florence; Villeneuve, Nathalie; Kalifa, Gabriel; Munnich, Arnold; Cormier-Daire, Valérie

Exclusion of the dymeclin and PAPSS2 genes in a novel form of spondyloepimetaphyseal dysplasia and mental retardation

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Springer Science and Business Media LLC, 2005

Published in: European Journal of Human Genetics, 13 (2005) 5, Seite 541-546
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

STXBP1-related encephalopathy presenting as infantile spasms and generalized tremor in three patients : STXBP1 Encephalopathy and Tremor : STXBP1 Encephalopathy and Tremor

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Wiley, 2011

Published in: Epilepsia, 52 (2011) 10, Seite 1820-1827
Rouxel, Flavien; Yauy, Kevin; Boursier, Guilaine; Gatinois, Vincent; Barat-Houari, Mouna; Sanchez, Elodie; Lacombe, Didier; Arpin, Stéphanie; Giuliano, Fabienne; Haye, Damien; Rio, Marlène; Toutain, Annick; Dieterich, Klaus; Brischoux-Boucher, Elise; Julia, Sophie; Nizon, Mathilde; Afenjar, Alexandra; Keren, Boris; Jacquette, Aurelia; Moutton, Sebastien; Jacquemont, Marie-Line; Duflos, Claire; Capri, Yline; Amiel, Jeanne; [...]

Using deep-neural-network-driven facial recognition to identify distinct Kabuki syndrome 1 and 2 gestalt

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Springer Science and Business Media LLC, 2022

Published in: European Journal of Human Genetics, 30 (2022) 6, Seite 682-686
Tessarech, Marine; Gorce, Magali; Boussion, Françoise; Bault, Jean‐Philippe; Triau, Stéphane; Charif, Majida; Khiaty, Salim; Delorme, Benoit; Guichet, Agnès; Ziegler, Alban; Bris, Céline; Laquerrière, Annie; Fallet‐Bianco, Catherine; Jacquette, Aurélia; Salhi, Houria; Héron, Delphine; Reynier, Pascal; Procaccio, Vincent; Bonneau, Dominique; Colin, Estelle

Second report of RING finger protein 113A (RNF113A) involvement in a Mendelian disorder

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Wiley, 2020

Published in: American Journal of Medical Genetics Part A, 182 (2020) 3, Seite 565-569
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; Depienne, Christel; Nava, Caroline; Héron, Delphine

ARID1Bmutations are the major genetic cause of corpus callosum anomalies in patients with intellectual disability

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Oxford University Press (OUP), 2016

Published in: Brain, 139 (2016) 11, Seite e64-e64
Tabet, Anne-Claude; Verloes, Alain; Pilorge, Marion; Delaby, Elsa; Delorme, Richard; Nygren, Gudrun; Devillard, Françoise; Gérard, Marion; Passemard, Sandrine; Héron, Delphine; Siffroi, Jean-Pierre; Jacquette, Aurelia; Delahaye, Andrée; Perrin, Laurence; Dupont, Céline; Aboura, Azzedine; Bitoun, Pierre; Coleman, Mary; Leboyer, Marion; Gillberg, Christopher; Benzacken, Brigitte; Betancur, Catalina

Complex nature of apparently balanced chromosomal rearrangements in patients with autism spectrum disorder

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Springer Science and Business Media LLC, 2015

Published in: Molecular Autism, 6 (2015) 1
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; Héron, Delphine; Brice, Alexis; Closs, Ellen I.; Depienne, Christel

Hypomorphic variants of cationic amino acid transporter 3 in males with autism spectrum disorders

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Springer Science and Business Media LLC, 2015

Published in: Amino Acids, 47 (2015) 12, Seite 2647-2658
Monin, Marie-Lorraine; Mignot, Cyril; De Lonlay, Pascale; Héron, Bénédicte; Masurel, Alice; Mathieu-Dramard, Michèle; Lenaerts, Catherine; Thauvin, Christel; Gérard, Marion; Roze, Emmanuel; Jacquette, Aurélia; Charles, Perrine; de Baracé, Claire; Drouin-Garraud, Valérie; Van Kien, Philippe Khau; Cormier-Daire, Valérie; Mayer, Michèle; Ogier, Hélène; Brice, Alexis; Seta, Nathalie; Héron, Delphine

29 French adult patients with PMM2-congenital disorder of glycosylation: outcome of the classical pediatric phenotype and depiction of a late-onset phenotype

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Springer Science and Business Media LLC, 2014

Published in: Orphanet Journal of Rare Diseases, 9 (2014) 1
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; Depienne, Christel

Prospective diagnostic analysis of copy number variants using SNP microarrays in individuals with autism spectrum disorders

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Springer Science and Business Media LLC, 2014

Published in: European Journal of Human Genetics, 22 (2014) 1, Seite 71-78
Giannuzzi, Giuliana; Chatron, Nicolas; Mannik, Katrin; Auwerx, Chiara; Pradervand, Sylvain; Willemin, Gilles; Hoekzema, Kendra; Nuttle, Xander; Chrast, Jacqueline; Sadler, Marie C.; Porcu, Eleonora; Männik, Katrin; Sanlaville, Damien; Schluth-Bolard, Caroline; Le Caignec, Cédric; Nizon, Mathilde; Martin, Sandra; Jacquemont, Sébastien; Bottani, Armand; Gérard, Marion; Weber, Sacha; Jacquette, Aurélia; Vincent-Delorme, Catherine; Currò, Aurora; [...]

Author Correction: Possible association of 16p11.2 copy number variation with altered lymphocyte and neutrophil counts

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Springer Science and Business Media LLC, 2023

Published in: npj Genomic Medicine, 8 (2023) 1
Giannuzzi, Giuliana; Chatron, Nicolas; Mannik, Katrin; Auwerx, Chiara; Pradervand, Sylvain; Willemin, Gilles; Hoekzema, Kendra; Nuttle, Xander; Chrast, Jacqueline; Sadler, Marie C.; Porcu, Eleonora; Männik, Katrin; Sanlaville, Damien; Schluth-Bolard, Caroline; Le Caignec, Cédric; Nizon, Mathilde; Martin, Sandra; Jacquemont, Sébastien; Bottani, Armand; Gérard, Marion; Weber, Sacha; Jacquette, Aurélia; Vincent-Delorme, Catherine; Currò, Aurora; [...]

Possible association of 16p11.2 copy number variation with altered lymphocyte and neutrophil counts

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Springer Science and Business Media LLC, 2022

Published in: npj Genomic Medicine, 7 (2022) 1
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; Heron, Delphine; Gras, Domitille; Afenjar, Alexandra; Dorison, Nathalie; Doummar, Dianne; Billette de Villemeur, Thierry; An, Isabelle; Jacquette, Aurélia; Charles, Perrine; [...]

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

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Springer Science and Business Media LLC, 2013

Published in: Orphanet Journal of Rare Diseases, 8 (2013) 1, Seite 80

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