Works matching AU Héron, Delphine

Results: 41

Some DNM2 mutations cause extremely severe congenital myopathy and phenocopy myotubular myopathy.

Published in:

2018

By:

Biancalana, Valérie;
Romero, Norma B.;
Thuestad, Inger Johanne;
Ignatius, Jaakko;
Kataja, Janne;
Gardberg, Maria;
Héron, Delphine;
Malfatti, Edoardo;
Oldfors, Anders;
Laporte, Jocelyn

Publication type:

Letter

Brief Report: Visual-Spatial Deficit in a 16-year-old Girl with Maternally Derived Duplication of Proximal 15q.

Published in:

Journal of Autism & Developmental Disorders, 2007, v. 37, n. 8, p. 1585, doi. 10.1007/s10803-006-0228-5

By:

Cohen, David;
Martel, Claire;
Wilson, Anna;
Déchambre, Nicole;
Amy, Céline;
Duverger, Ludovic;
Guile, Jean-Marc;
Pipiras, Eva;
Benzacken, Brigitte;
Cavé, Hélène;
Cohen, Laurent;
Héron, Delphine;
Plaza, Monique

Publication type:

Article

Brief Report: Visual–Spatial Deficit in a 16-year-old Girl with Maternally derived Duplication of Proximal 15q.

Published in:

2007

By:

Cohen, David;
Martel, Claire;
Wilson, Anna;
Déchambre, Nicole;
Amy, Céline;
Duverger, Ludovic;
Guile, Jean-Marc;
Pipiras, Eva;
Benzacken, Brigitte;
Cavé, Hélène;
Cohen, Laurent;
Héron, Delphine;
Plaza, Monique

Publication type:

Correction Notice

Specific Genetic Disorders and Autism: Clinical Contribution Towards their Identification.

Published in:

Journal of Autism & Developmental Disorders, 2005, v. 35, n. 1, p. 103, doi. 10.1007/s10803-004-1038-2

By:

Cohen, David;
Pichard, Nadège;
Tordjman, Sylvie;
Baumann, Clarisse;
Burglen, Lydie;
Excoffier, Elsa;
Lazar, Gabriela;
Mazet, Philippe;
Pinquier, Clément;
Verloes, Alain;
Héron, Delphine

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

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

A Male Fetus with Aqueductal Stenosis and Four Accessory Spleens.

Published in:

Pediatric Neurosurgery, 1996, v. 25, n. 1, p. 36, doi. 10.1159/000121094

By:

Catala, Martin;
Aubert, Valérie;
Lesourd, Sylvie;
Héron, Delphine;
Vauthier-Brouzes, Danièle;
Harpey, Jean-Paul

Publication type:

Article

Psychiatric and cognitive phenotype in children and adolescents with myotonic dystrophy.

Published in:

European Child & Adolescent Psychiatry, 2009, v. 18, n. 12, p. 705, doi. 10.1007/s00787-009-0037-4

By:

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

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

A Novel Lamin A Mutant Responsible for Congenital Muscular Dystrophy Causes Distinct Abnormalities of the Cell Nucleus.

Published in:

PLoS ONE, 2017, v. 12, n. 1, p. 1, doi. 10.1371/journal.pone.0169189

By:

Barateau, Alice;
Vadrot, Nathalie;
Vicart, Patrick;
Ferreiro, Ana;
Mayer, Michèle;
Héron, Delphine;
Vigouroux, Corinne;
Buendia, Brigitte

Publication type:

Article

Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders.

Published in:

Nature Genetics, 2007, v. 39, n. 1, p. 25, doi. 10.1038/ng1933

By:

Durand, Christelle M;
Betancur, Catalina;
Boeckers, Tobias M;
Bockmann, Juergen;
Chaste, Pauline;
Fauchereau, Fabien;
Nygren, Gudrun;
Rastam, Maria;
Gillberg, I Carina;
Anckarsäter, Henrik;
Sponheim, Eili;
Goubran-Botros, Hany;
Delorme, Richard;
Chabane, Nadia;
Mouren-Simeoni, Marie-Christine;
de Mas, Philippe;
Bieth, Eric;
Rogé, Bernadette;
Héron, Delphine;
Burglen, Lydie

Publication type:

Article

Genetic variants in components of the NALCN-UNC80-UNC79 ion channel complex cause a broad clinical phenotype (NALCN channelopathies).

Published in:

Human Genetics, 2018, v. 137, n. 9, p. 753, doi. 10.1007/s00439-018-1929-5

By:

Bramswig, Nuria C.;
Bertoli-Avella, Aida M.;
Albrecht, Beate;
Al Aqeel, Aida I.;
Alhashem, Amal;
Al-Sannaa, Nouriya;
Bah, Maissa;
Bröhl, Katharina;
Depienne, Christel;
Dorison, Nathalie;
Doummar, Diane;
Ehmke, Nadja;
Elbendary, Hasnaa M.;
Gorokhova, Svetlana;
Héron, Delphine;
Horn, Denise;
James, Kiely;
Keren, Boris;
Kuechler, Alma;
Ismail, Samira

Publication type:

Article

Stratification of the risk of ovarian dysfunction by studying the complexity of intermediate and premutation alleles of the FMR1 gene.

Published in:

American Journal of Medical Genetics. Part A, 2024, v. 194, n. 4, p. 1, doi. 10.1002/ajmg.a.63479

By:

Quilichini, Juliette;
Perol, Sandrine;
Cuisset, Laurence;
Grotto, Sarah;
Fouveaut, Corinne;
Barbot, Jean Claude;
Verebi, Camille;
Jordan, Pénélope;
Héron, Delphine;
Molina‐Gomes, Denise;
Pipiras, Eva;
Grynberg, Michael;
Catteau‐Jonard, Sophie;
Touraine, Philippe;
Christin‐Maître, Sophie;
Plu‐Bureau, Geneviève;
El Khattabi, Laila;
Bienvenu, Thierry

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

Toward clinical and molecular dissection of frontonasal dysplasia with facial skin polyps: From Pai syndrome to differential diagnosis through a series of 27 patients.

Published in:

American Journal of Medical Genetics. Part A, 2022, v. 188, n. 7, p. 2036, doi. 10.1002/ajmg.a.62739

By:

Lehalle, Daphné;
Bruel, Ange‐Line;
Vitobello, Antonio;
Denommé‐Pichon, Anne‐Sophie;
Duffourd, Yannis;
Assoum, Mirna;
Amiel, Jeanne;
Baujat, Geneviève;
Bessieres, Bettina;
Bigoni, Stefania;
Burglen, Lydie;
Captier, Guillaume;
Dard, Rodolphe;
Edery, Patrick;
Fortunato, Fernanda;
Geneviève, David;
Goldenberg, Alice;
Guibaud, Laurent;
Héron, Delphine;
Holder‐Espinasse, Muriel

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

A missense mutation within the fork-head domain of the forkhead box G1 Gene (FOXG1) affects its nuclear localization.

Published in:

Human Mutation, 2011, v. 32, n. 2, p. E2026, doi. 10.1002/humu.21422

By:

Tangui Le Guen;
Yann Fichou;
Nectoux, Juliette;
Bahi-Buisson, Nadia;
Rivier, François;
Boddaert, Nathalie;
Diebold, Bertrand;
Héron, Delphine;
Chelly, Jamel;
Bienvenu, Thierry

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

Identification of novel L1CAM mutations using fluorescence-assisted mismatch analysis.

Published in:

Human Mutation, 1998, v. 12, n. 4, p. 259, doi. 10.1002/(SICI)1098-1004(1998)12:4<259::AID-HUMU7>3.0.CO;2-A

By:

Saugier-Veber, Pascale;
Martin, Cosette;
Le Meur, Nathalie;
Lyonnet, Stanislas;
Munnich, Arnold;
David, Albert;
Hénocq, Alain;
Héron, Delphine;
Jonveaux, Philippe;
Odent, Sylvie;
Manouvrier, Sylvie;
Moncla, Anne;
Morichon, Nicole;
Philip, Nicole;
Satge, Daniel;
Tosi, Mario;
Frébourg, T

Publication type:

Article

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

Published in:

Molecular Autism, 2015, v. 6, n. 1, p. 1, doi. 10.1186/s13229-015-0015-2

By:

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

Publication type:

Article

Prenatal molecular diagnosis in hypertrophic cardiomyopathy: report of the first case.

Published in:

Prenatal Diagnosis, 2004, v. 24, n. 9, p. 701, doi. 10.1002/pd.969

By:

Charron, Philippe;
Héron, Delphine;
Gargiulo, Marcela;
Feingold, Josué;
Oury, Jean-François;
Richard, Pascale;
Komajda, Michel

Publication type:

Article

Séquençage de l'exome ou du génome et données additionnelles: Quels enjeux pour la génétique médicale ?

Published in:

Médecine Sciences, 2024, v. 40, n. 4, p. 377, doi. 10.1051/medsci/2024029

By:

Amiel, Jeanne;
Héron, Delphine;
Isidor, Bertrand

Publication type:

Article

Psychiatric and cognitive phenotype of childhood myotonic dystrophy type 1.

Published in:

Developmental Medicine & Child Neurology, 2012, v. 54, n. 10, p. 905, doi. 10.1111/j.1469-8749.2012.04379.x

By:

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

Publication type:

Article

Smith‐Magenis syndrome: Clinical and behavioral characteristics in a large retrospective cohort.

Published in:

Clinical Genetics, 2021, v. 99, n. 4, p. 519, doi. 10.1111/cge.13906

By:

Rive Le Gouard, Nicolas;
Jacquinet, Adeline;
Ruaud, Lyse;
Deleersnyder, Hélène;
Ageorges, Faustine;
Gallard, Jennifer;
Lacombe, Didier;
Odent, Sylvie;
Mikaty, Myriam;
Manouvrier‐Hanu, Sylvie;
Ghoumid, Jamal;
Geneviève, David;
Lehman, Natacha;
Philip, Nicole;
Edery, Patrick;
Héron, Delphine;
Rastel, Coralie;
Chancenotte, Sophie;
Thauvin‐Robinet, Christel;
Faivre, Laurence

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

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

Mutation in the SLC9A6 gene is not a frequent cause of sporadic Angelman-like syndrome.

Published in:

European Journal of Human Genetics, 2009, v. 17, n. 11, p. 1378, doi. 10.1038/ejhg.2009.82

By:

Fichou, Yann;
Bahi-Buisson, Nadia;
Nectoux, Juliette;
Chelly, Jamel;
Héron, Delphine;
Cuisset, Laurence;
Bienvenu, Thierry

Publication type:

Article

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

Published in:

European Journal of Human Genetics, 2005, v. 13, n. 5, p. 541, doi. 10.1038/sj.ejhg.5201339

By:

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

Publication type:

Article

Mutations in CNTNAP1 and ADCY6 are responsible for severe arthrogryposis multiplex congenita with axoglial defects.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 9, p. 2279, doi. 10.1093/hmg/ddt618

By:

Laquérriere, Annie;
Maluenda, Jérome;
Camus, Adrien;
Fontenas, Laura;
Dieterich, Klaus;
Nolent, Flora;
Zhou, Jié;
Monnier, Nicole;
Latour, Philippe;
Gentil, Damien;
Héron, Delphine;
Desguerres, Isabelle;
Landrieu, Pierre;
Beneteau, Claire;
Delaporte, Benoit;
Bellesme, Céline;
Baumann, Clarisse;
Capri, Yline;
Goldenberg, Alice;
Lyonnet, Stanislas

Publication type:

Article

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

Published in:

2010

By:

Keren, Boris;
Jacquette, Aurélia;
Depienne, Christel;
Leite, Patricia;
Durr, Alexandra;
Carpentier, Wassila;
Benyahia, Baya;
Ponsot, Gerard;
Soubrier, Florent;
Brice, Alexis;
Héron, Delphine

Publication type:

Letter

Use of Prenatal Exome Sequencing: Opinion Statement of the French Federation of Human Genetics Working Group.

Published in:

Prenatal Diagnosis, 2025, v. 45, n. 3, p. 299, doi. 10.1002/pd.6692

By:

Cogan, Guillaume;
Troadec, Marie‐Bérengère;
Devillard, Françoise;
Saint‐Frison, Marie‐Hélène;
Geneviève, David;
Vialard, François;
Rial‐Sebbag, Emmanuelle;
Héron, Delphine;
Attie‐Bitach, Tania;
Benachi, Alexandra;
Saugier‐Veber, Pascale

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

COL4A1/COL4A2 and inherited platelet disorder gene variants in fetuses showing intracranial hemorrhage.

Published in:

Prenatal Diagnosis, 2022, v. 42, n. 5, p. 601, doi. 10.1002/pd.6113

By:

Coste, Thibault;
Vincent‐Delorme, Catherine;
Stichelbout, Morgane;
Devisme, Louise;
Gelot, Antoinette;
Deryabin, Igor;
Pelluard, Fanny;
Aloui, Chaker;
Leutenegger, Anne‐Louise;
Jouannic, Jean‐Marie;
Héron, Delphine;
Gould, Douglas B;
Tournier‐Lasserve, Elisabeth

Publication type:

Article

De novo heterozygous missense and loss‐of‐function variants in CDC42BPB are associated with a neurodevelopmental phenotype.

Published in:

American Journal of Medical Genetics. Part A, 2020, v. 182, n. 5, p. 962, doi. 10.1002/ajmg.a.61505

By:

Chilton, Ilana;
Okur, Volkan;
Vitiello, Giuseppina;
Selicorni, Angelo;
Mariani, Milena;
Goldenberg, Alice;
Husson, Thomas;
Campion, Dominique;
Lichtenbelt, Klaske D.;
Gassen, Koen;
Steinraths, Michelle;
Rice, Jennifer;
Roeder, Elizabeth R.;
Littlejohn, Rebecca O.;
Srour, Myriam;
Sebire, Guillaume;
Accogli, Andrea;
Héron, Delphine;
Heide, Solveig;
Nava, Caroline

Publication type:

Article

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

Published in:

American Journal of Medical Genetics. Part A, 2020, v. 182, n. 3, p. 565, doi. 10.1002/ajmg.a.61384

By:

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

Publication type:

Article

The oculoauriculofrontonasal syndrome: Further clinical characterization and additional evidence suggesting a nontraditional mode of inheritance.

Published in:

American Journal of Medical Genetics. Part A, 2018, v. 176, n. 12, p. 2740, doi. 10.1002/ajmg.a.40662

By:

Lehalle, Daphné;
Altunoglu, Umut;
Bruel, Ange‐Line;
Assoum, Mirna;
Duffourd, Yannis;
Masurel, Alice;
Baujat, Geneviève;
Bessieres, Bettina;
Captier, Guillaume;
Edery, Patrick;
Elçioğlu, Nursel H.;
Geneviève, David;
Goldenberg, Alice;
Héron, Delphine;
Grotto, Sarah;
Marlin, Sandrine;
Putoux, Audrey;
Rossi, Massimiliano;
Saugier‐Veber, Pascale;
Triau, Stéphane

Publication type:

Article

Phenotype-genotype correlations in 17 new patients with an Xp11.23p11.22 microduplication and review of the literature.

Published in:

American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 1, p. 111, doi. 10.1002/ajmg.a.36807

By:

Nizon, Mathilde;
Andrieux, Joris;
Rooryck, Caroline;
de Blois, Marie‐Christine;
Bourel‐Ponchel, Emilie;
Bourgois, Béatrice;
Boute, Odile;
David, Albert;
Delobel, Bruno;
Duban‐Bedu, Bénédicte;
Giuliano, Fabienne;
Goldenberg, Alice;
Grotto, Sarah;
Héron, Delphine;
Karmous‐Benailly, Houda;
Keren, Boris;
Lacombe, Didier;
Lapierre, Jean‐Michel;
Le Caignec, Cédric;
Le Galloudec, Eric

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

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

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