Found: 21

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  • Type I Interferonopathy due to a Homozygous Loss-of-Inhibitory Function Mutation in STAT2.

    Published in:
    Journal of Clinical Immunology, 2023, v. 43, n. 4, p. 808, doi. 10.1007/s10875-023-01445-3
    By:
    • Zhu, Gaofeng;
    • Badonyi, Mihaly;
    • Franklin, Lina;
    • Seabra, Luis;
    • Rice, Gillian I.;
    • Anne-Boland-Auge;
    • Deleuze, Jean-François;
    • El-Chehadeh, Salima;
    • Anheim, Mathieu;
    • de Saint-Martin, Anne;
    • Pellegrini, Sandra;
    • Marsh, Joseph A.;
    • Crow, Yanick J.;
    • El-Daher, Marie-Therese
    Publication type:
    Article

  • IRAK1 Duplication in MECP2 Duplication Syndrome Does Not Increase Canonical NF-κB–Induced Inflammation.

    Published in:
    Journal of Clinical Immunology, 2023, v. 43, n. 2, p. 421, doi. 10.1007/s10875-022-01390-7
    By:
    • Gottschalk, Ilona;
    • Kölsch, Uwe;
    • Wagner, Dimitrios L.;
    • Kath, Jonas;
    • Martini, Stefania;
    • Krüger, Renate;
    • Puel, Anne;
    • Casanova, Jean-Laurent;
    • Jezela-Stanek, Aleksandra;
    • Rossi, Rainer;
    • Chehadeh, Salima El;
    • Van Esch, Hilde;
    • von Bernuth, Horst
    Publication type:
    Article

  • MYT1L-associated neurodevelopmental disorder: description of 40 new cases and literature review of clinical and molecular aspects.

    Published in:
    Human Genetics, 2022, v. 141, n. 1, p. 65, doi. 10.1007/s00439-021-02383-z
    By:
    • Coursimault, Juliette;
    • Guerrot, Anne-Marie;
    • Morrow, Michelle M.;
    • Schramm, Catherine;
    • Zamora, Francisca Millan;
    • Shanmugham, Anita;
    • Liu, Shuxi;
    • Zou, Fanggeng;
    • Bilan, Frédéric;
    • Le Guyader, Gwenaël;
    • Bruel, Ange-Line;
    • Denommé-Pichon, Anne-Sophie;
    • Faivre, Laurence;
    • Tran Mau-Them, Frédéric;
    • Tessarech, Marine;
    • Colin, Estelle;
    • El Chehadeh, Salima;
    • Gérard, Bénédicte;
    • Schaefer, Elise;
    • Cogne, Benjamin
    Publication type:
    Article

  • SLITRK2 variants associated with neurodevelopmental disorders impair excitatory synaptic function and cognition in mice.

    Published in:
    Nature Communications, 2022, v. 13, n. 1, p. 1, doi. 10.1038/s41467-022-31566-z
    By:
    • El Chehadeh, Salima;
    • Han, Kyung Ah;
    • Kim, Dongwook;
    • Jang, Gyubin;
    • Bakhtiari, Somayeh;
    • Lim, Dongseok;
    • Kim, Hee Young;
    • Kim, Jinhu;
    • Kim, Hyeonho;
    • Wynn, Julia;
    • Chung, Wendy K.;
    • Vitiello, Giuseppina;
    • Cutcutache, Ioana;
    • Page, Matthew;
    • Gecz, Jozef;
    • Harper, Kelly;
    • Han, Ah-reum;
    • Kim, Ho Min;
    • Wessels, Marja;
    • Bayat, Allan
    Publication type:
    Article

  • Development of primary early-onset colorectal cancers due to biallelic mutations of the FANCD1/BRCA2 gene.

    Published in:
    European Journal of Human Genetics, 2014, v. 22, n. 8, p. 979, doi. 10.1038/ejhg.2013.278
    By:
    • Degrolard-Courcet, Emilie;
    • Sokolowska, Joanna;
    • Padeano, Marie-Martine;
    • Guiu, Séverine;
    • Bronner, Myriam;
    • Chery, Carole;
    • Coron, Fanny;
    • Lepage, Côme;
    • Chapusot, Caroline;
    • Loustalot, Catherine;
    • Jouve, Jean-Louis;
    • Hatem, Cyril;
    • Ferrant, Emmanuelle;
    • Martin, Laurent;
    • Coutant, Charles;
    • Baurand, Amandine;
    • Couillault, Gérard;
    • Delignette, Alexandra;
    • El Chehadeh, Salima;
    • Lizard, Sarab
    Publication type:
    Article

  • Changing facial phenotype in Cohen syndrome: towards clues for an earlier diagnosis.

    Published in:
    European Journal of Human Genetics, 2013, v. 21, n. 7, p. 736, doi. 10.1038/ejhg.2012.251
    By:
    • El Chehadeh-Djebbar, Salima;
    • Blair, Edward;
    • Holder-Espinasse, Muriel;
    • Moncla, Anne;
    • Frances, Anne-Marie;
    • Rio, Marlène;
    • Debray, François-Guillaume;
    • Rump, Patrick;
    • Masurel-Paulet, Alice;
    • Gigot, Nadège;
    • Callier, Patrick;
    • Duplomb, Laurence;
    • Aral, Bernard;
    • Huet, Frédéric;
    • Thauvin-Robinet, Christel;
    • Faivre, Laurence
    Publication type:
    Article

  • Serpin B1 defect and increased apoptosis of neutrophils in Cohen syndrome neutropenia.

    Published in:
    Journal of Molecular Medicine, 2019, v. 97, n. 5, p. 633, doi. 10.1007/s00109-019-01754-4
    By:
    • Duplomb, Laurence;
    • Rivière, Julie;
    • Jego, Gaëtan;
    • Da Costa, Romain;
    • Hammann, Arlette;
    • Racine, Jessica;
    • Schmitt, Alain;
    • Droin, Nathalie;
    • Capron, Claude;
    • Gougerot-Pocidalo, Marie-Anne;
    • Dubrez, Laurence;
    • Aral, Bernard;
    • Lafon, Arnaud;
    • Edery, Patrick;
    • Ghoumid, Jamal;
    • Blair, Edward;
    • El Chehadeh-Djebbar, Salima;
    • Carmignac, Virginie;
    • Thevenon, Julien;
    • Guy, Julien
    Publication type:
    Article

  • Insulin response dysregulation explains abnormal fat storage and increased risk of diabetes mellitus type 2 in Cohen Syndrome.

    Published in:
    Human Molecular Genetics, 2015, v. 24, n. 23, p. 6603, doi. 10.1093/hmg/ddv366
    By:
    • Limoge, Floriane;
    • Faivre, Laurence;
    • Gautier, Thomas;
    • Petit, Jean-Michel;
    • Gautier, Elodie;
    • Masson, David;
    • Jego, Gaëtan;
    • El Chehadeh-Djebbar, Salima;
    • Marle, Nathalie;
    • Carmignac, Virginie;
    • Deckert, Valérie;
    • Brindisi, Marie-Claude;
    • Edery, Patrick;
    • Ghoumid, Jamal;
    • Blair, Edward;
    • Lagrost, Laurent;
    • Thauvin-Robinet, Christel;
    • Duplomb, Laurence
    Publication type:
    Article

  • Cohen syndrome is associated with major glycosylation defects.

    Published in:
    Human Molecular Genetics, 2014, v. 23, n. 9, p. 2391, doi. 10.1093/hmg/ddt630
    By:
    • Duplomb, Laurence;
    • Duvet, Sandrine;
    • Picot, Damien;
    • Jego, Gaëtan;
    • El Chehadeh-Djebbar, Salima;
    • Marle, Nathalie;
    • Gigot, Nadège;
    • Aral, Bernard;
    • Carmignac, Virginie;
    • Thevenon, Julien;
    • Lopez, Estelle;
    • Rivière, Jean-Baptiste;
    • Klein, André;
    • Philippe, Christophe;
    • Droin, Nathalie;
    • Blair, Edward;
    • Girodon, François;
    • Donadieu, Jean;
    • Bellanné-Chantelot, Christine;
    • Delva, Laurent
    Publication type:
    Article

  • An Improved Method to Extract DNA from 1 ml of Uncultured Amniotic Fluid from Patients at Less than 16 Weeks’ Gestation.

    Published in:
    PLoS ONE, 2013, v. 8, n. 4, p. 1, doi. 10.1371/journal.pone.0059956
    By:
    • Mosca-Boidron, Anne-Laure;
    • Faivre, Laurence;
    • Aho, Serge;
    • Marle, Nathalie;
    • Truntzer, Caroline;
    • Rousseau, Thierry;
    • Ragon, Clémence;
    • Payet, Muriel;
    • Thauvin-Robinet, Christelle;
    • Thevenon, Julien;
    • Chehadeh, Salima El;
    • Huet, Fréderic;
    • Sagot, Paul;
    • Mugneret, Francine;
    • Callier, Patrick
    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

  • 6q16.3q23.3 duplication associated with Prader-Willi-like syndrome.

    Published in:
    Molecular Cytogenetics (17558166), 2015, v. 8, n. 1, p. 1, doi. 10.1186/s13039-015-0151-6
    By:
    • Desch, Laurent;
    • Marle, Nathalie;
    • Mosca-Boidron, Anne-Laure;
    • Faivre, Laurence;
    • Eliade, Marie;
    • Payet, Muriel;
    • Ragon, Clemence;
    • Thevenon, Julien;
    • Aral, Bernard;
    • Ragot, Sylviane;
    • Ardalan, Azarnouche;
    • Dhouibi, Nabila;
    • Bensignor, Candace;
    • Thauvin-Robinet, Christel;
    • Chehadeh, Salima El;
    • Callier, Patrick
    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

  • Prenatal diagnosis of cerebro‐oculo‐facio‐skeletal syndrome: Report of three fetuses and review of the literature.

    Published in:
    American Journal of Medical Genetics. Part A, 2020, v. 182, n. 5, p. 1236, doi. 10.1002/ajmg.a.61520
    By:
    • Le Van Quyen, Pauline;
    • Calmels, Nadège;
    • Bonnière, Maryse;
    • Chartier, Suzanne;
    • Razavi, Féréchté;
    • Chelly, Jamel;
    • El Chehadeh, Salima;
    • Baer, Sarah;
    • Boutaud, Lucile;
    • Bacrot, Séverine;
    • Obringer, Cathy;
    • Favre, Romain;
    • Attié‐Bitach, Tania;
    • Laugel, Vincent;
    • Antal, Maria C.
    Publication type:
    Article

  • Application of whole-exome sequencing to unravel the molecular basis of undiagnosed syndromic congenital neutropenia with intellectual disability.

    Published in:
    American Journal of Medical Genetics. Part A, 2017, v. 173, n. 1, p. 62, doi. 10.1002/ajmg.a.37969
    By:
    • Gauthier‐Vasserot, Alexandra;
    • Thauvin‐Robinet, Christel;
    • Bruel, Ange‐Line;
    • Duffourd, Yannis;
    • St‐Onge, Judith;
    • Jouan, Thibaud;
    • Rivière, Jean‐Baptiste;
    • Heron, Delphine;
    • Donadieu, Jean;
    • Bellanné‐Chantelot, Christine;
    • Briandet, Claire;
    • Huet, Frédéric;
    • Kuentz, Paul;
    • Lehalle, Daphné;
    • Duplomb‐Jego, Laurence;
    • Gautier, Elodie;
    • Maystadt, Isabelle;
    • Pinson, Lucile;
    • Amram, Daniel;
    • El Chehadeh, Salima
    Publication type:
    Article

  • Large national series of patients with Xq28 duplication involving MECP2: Delineation of brain MRI abnormalities in 30 affected patients.

    Published in:
    American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 1, p. 116, doi. 10.1002/ajmg.a.37384
    By:
    • El Chehadeh, Salima;
    • Faivre, Laurence;
    • Mosca‐Boidron, Anne‐Laure;
    • Malan, Valérie;
    • Amiel, Jeanne;
    • Nizon, Mathilde;
    • Touraine, Renaud;
    • Prieur, Fabienne;
    • Pasquier, Laurent;
    • Callier, Patrick;
    • Lefebvre, Mathilde;
    • Marle, Nathalie;
    • Dubourg, Christèle;
    • Julia, Sophie;
    • Sarret, Catherine;
    • Francannet, Christine;
    • Laffargue, Fanny;
    • Boespflug‐Tanguy, Odile;
    • David, Albert;
    • Isidor, Bertrand
    Publication type:
    Article

  • Further delineation of eye manifestations in homozygous 15q13.3 microdeletions including TRPM1: A differential diagnosis of ceroid lipofuscinosis.

    Published in:
    American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 6, p. 1537, doi. 10.1002/ajmg.a.36471
    By:
    • Masurel‐Paulet, Alice;
    • Drumare, Isabelle;
    • Holder, Muriel;
    • Cuisset, Jean‐Marie;
    • Vallée, Louis;
    • Defoort, Sabine;
    • Bourgois, Béatrice;
    • Pernes, Philippe;
    • Cuvellier, Jean‐Christophe;
    • Huet, Frédéric;
    • Chehadeh, Salima El;
    • Thevenon, Julien;
    • Callier, Patrick;
    • Thauvin, Christel;
    • Faivre, Laurence;
    • Andrieux, Joris
    Publication type:
    Article

  • Expanding the clinical phenotype of patients with a ZDHHC9 mutation.

    Published in:
    American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 3, p. 789, doi. 10.1002/ajmg.a.36348
    By:
    • Masurel‐Paulet, Alice;
    • Kalscheuer, Vera M.;
    • Lebrun, Nicolas;
    • Hu, Hao;
    • Levy, Fabienne;
    • Thauvin‐Robinet, Christel;
    • Darmency‐Stamboul, Véronique;
    • El Chehadeh, Salima;
    • Thevenon, Julien;
    • Chancenotte, Sophie;
    • Ruffier‐Bourdet, Marie;
    • Bonnet, Marlène;
    • Pinoit, Jean‐Michel;
    • Huet, Frédéric;
    • Desportes, Vincent;
    • Chelly, Jamel;
    • Faivre, Laurence
    Publication type:
    Article

  • Congenital neutropenia with retinopathy, a new phenotype without intellectual deficiency or obesity secondary to VPS 13 B mutations.

    Published in:
    American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 2, p. 522, doi. 10.1002/ajmg.a.36300
    By:
    • Gueneau, Lucie;
    • Duplomb, Laurence;
    • Sarda, Pierre;
    • Hamel, Christian;
    • Aral, Bernard;
    • Chehadeh, Salima El;
    • Gigot, Nadège;
    • St‐Onge, Judith;
    • Callier, Patrick;
    • Thevenon, Julien;
    • Huet, Frédéric;
    • Carmignac, Virginie;
    • Droin, Nathalie;
    • Faivre, Laurence;
    • Thauvin‐Robinet, Christel
    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

  • Periodontal (formerly type VIII) Ehlers–Danlos syndrome: Description of 13 novel cases and expansion of the clinical phenotype.

    Published in:
    Clinical Genetics, 2021, v. 100, n. 2, p. 206, doi. 10.1111/cge.13972
    By:
    • El Chehadeh, Salima;
    • Legrand, Anne;
    • Stoetzel, Corinne;
    • Geoffroy, Véronique;
    • Billon, Clarisse;
    • Adham, Salma;
    • Jeunemaître, Xavier;
    • Jaussaud, Roland;
    • Muller, Jean;
    • Schaefer, Elise;
    • Benistan, Karelle;
    • Gaertner, Sébastien;
    • Bloch‐Zupan, Agnès;
    • Courval, Aymeric;
    • Manière, Marie‐Cécile;
    • Petit, Catherine;
    • Bursztejn, Anne‐Claire;
    • Bal, Laurence;
    • Reyre, Anthony;
    • Chammas, Agathe
    Publication type:
    Article