Found: 18

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  • Incomplete penetrance and phenotypic variability of 6q16 deletions including SIM1.

    Published in:
    European Journal of Human Genetics, 2015, v. 23, n. 8, p. 1010, doi. 10.1038/ejhg.2014.230
    By:
    • El Khattabi, Laïla;
    • Guimiot, Fabien;
    • Pipiras, Eva;
    • Andrieux, Joris;
    • Baumann, Clarisse;
    • Bouquillon, Sonia;
    • Delezoide, Anne-Lise;
    • Delobel, Bruno;
    • Demurger, Florence;
    • Dessuant, Hélène;
    • Drunat, Séverine;
    • Dubourg, Christelle;
    • Dupont, Céline;
    • Faivre, Laurence;
    • Holder-Espinasse, Muriel;
    • Jaillard, Sylvie;
    • Journel, Hubert;
    • Lyonnet, Stanislas;
    • Malan, Valérie;
    • Masurel, Alice
    Publication type:
    Article

  • 20 ans après: a second mutation in MAOA identified by targeted high-throughput sequencing in a family with altered behavior and cognition.

    Published in:
    European Journal of Human Genetics, 2014, v. 22, n. 6, p. 776, doi. 10.1038/ejhg.2013.243
    By:
    • Piton, Amélie;
    • Poquet, Hélène;
    • Redin, Claire;
    • Masurel, Alice;
    • Lauer, Julia;
    • Muller, Jean;
    • Thevenon, Julien;
    • Herenger, Yvan;
    • Chancenotte, Sophie;
    • Bonnet, Marlène;
    • Pinoit, Jean-Michel;
    • Huet, Frédéric;
    • Thauvin-Robinet, Christel;
    • Jaeger, Anne-Sophie;
    • Le Gras, Stéphanie;
    • Jost, Bernard;
    • Gérard, Bénédicte;
    • Peoc'h, Katell;
    • Launay, Jean-Marie;
    • Faivre, Laurence
    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

  • Biallelic SCN10A mutations in neuromuscular disease and epileptic encephalopathy.

    Published in:
    Annals of Clinical & Translational Neurology, 2017, v. 4, n. 1, p. 26, doi. 10.1002/acn3.372
    By:
    • Kambouris, Marios;
    • Thevenon, Julien;
    • Soldatos, Ariane;
    • Cox, Allison;
    • Stephen, Joshi;
    • Ben‐Omran, Tawfeg;
    • Al‐Sarraj, Yasser;
    • Boulos, Hala;
    • Bone, William;
    • Mullikin, James C.;
    • Masurel‐Paulet, Alice;
    • St‐Onge, Judith;
    • Dufford, Yannis;
    • Chantegret, Corrine;
    • Thauvin‐Robinet, Christel;
    • Al‐Alami, Jamil;
    • Faivre, Laurence;
    • Riviere, Jean Baptiste;
    • Gahl, William A.;
    • Bassuk, Alexander G.
    Publication type:
    Article

  • 12p13.33 microdeletion including ELKS/ERC1, a new locus associated with childhood apraxia of speech.

    Published in:
    European Journal of Human Genetics, 2013, v. 21, n. 1, p. 82, doi. 10.1038/ejhg.2012.116
    By:
    • Thevenon, Julien;
    • Callier, Patrick;
    • Andrieux, Joris;
    • Delobel, Bruno;
    • David, Albert;
    • Sukno, Sylvie;
    • Minot, Delphine;
    • Mosca Anne, Laure;
    • Marle, Nathalie;
    • Sanlaville, Damien;
    • Bonnet, Marlène;
    • Masurel-Paulet, Alice;
    • Levy, Fabienne;
    • Gaunt, Lorraine;
    • Farrell, Sandra;
    • Le Caignec, Cédric;
    • Toutain, Annick;
    • Carmignac, Virginie;
    • Mugneret, Francine;
    • Clayton-Smith, Jill
    Publication type:
    Article

  • Juvenile Xanthogranuloma and Nevus Anemicus in the Diagnosis of Neurofibromatosis Type 1.

    Published in:
    JAMA Dermatology, 2014, v. 150, n. 1, p. 42, doi. 10.1001/jamadermatol.2013.6434
    By:
    • Ferrari, Fustine;
    • Masurel, Alice;
    • Olivier-Faivre, Laurence;
    • Vabres, Pierre
    Publication type:
    Article

  • Angelman Syndrome: A Case Series Assessing Neurological Issues in Adulthood.

    Published in:
    European Neurology, 2015, v. 73, n. 1/2, p. 119, doi. 10.1159/000369454
    By:
    • Giroud, Marie;
    • Daubail, Benoît;
    • Khayat, Norbert;
    • Chouchane, Mondher;
    • Berger, Eric;
    • Muzard, Emelyne;
    • Medeiros de Bustos, Elisabeth;
    • Thauvin-Robinet, Christel;
    • Faivre, Laurence;
    • Masurel, alice;
    • Darmency-Stamboul, Véronique;
    • Huet, Frédéric;
    • Béjot, Yannick;
    • Giroud, Maurice;
    • Moulin, Thierry
    Publication type:
    Article

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

    Published in:
    Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. 391, doi. 10.1186/s13023-014-0207-4
    By:
    • 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;
    • Khau Van Kien, Philippe;
    • Cormier-Daire, Valérie;
    • Mayer, Michèle;
    • Ogier, Hélène;
    • Brice, Alexis;
    • Seta, Nathalie
    Publication type:
    Article

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

    Published in:
    2014
    By:
    • 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;
    • Khau Van Kien, Philippe;
    • Cormier-Daire, Valérie;
    • Mayer, Michèle;
    • Ogier, Hélène;
    • Brice, Alexis;
    • Seta, Nathalie
    Publication type:
    Journal Article

  • Genomic deletions of OFD1 account for 23% of oral-facial-digital type 1 syndrome after negative DNA sequencing.

    Published in:
    Human Mutation, 2009, v. 30, n. 2, p. E320, doi. 10.1002/humu.20888
    By:
    • Thauvin-Robinet, Christel;
    • Franco, Brunella;
    • Saugier-Veber, Pascale;
    • Aral, Bernard;
    • Gigot, Nadège;
    • Donzel, Anne;
    • Van Maldergem, Lionel;
    • Bieth, Eric;
    • Layet, Valérie;
    • Mathieu, Michèle;
    • Teebi, Ahmad;
    • Lespinasse, James;
    • Callier, Patrick;
    • Mugneret, Francine;
    • Masurel-Paulet, Alice;
    • Gautier, Elodie;
    • Huet, Frédéric;
    • Teyssier, Jean-Raymond;
    • Tosi, Mario;
    • Frébourg, Thierry
    Publication type:
    Article

  • Expanding the Phenotype Associated with NAA10-Related N-Terminal Acetylation Deficiency.

    Published in:
    Human Mutation, 2016, v. 37, n. 8, p. 755, doi. 10.1002/humu.23001
    By:
    • Saunier, Chloé;
    • Støve, Svein Isungset;
    • Popp, Bernt;
    • Gérard, Bénédicte;
    • Blenski, Marina;
    • AhMew, Nicholas;
    • Bie, Charlotte;
    • Goldenberg, Paula;
    • Isidor, Bertrand;
    • Keren, Boris;
    • Leheup, Bruno;
    • Lampert, Laetitia;
    • Mignot, Cyril;
    • Tezcan, Kamer;
    • Mancini, Grazia M.S.;
    • Nava, Caroline;
    • Wasserstein, Melissa;
    • Bruel, Ange‐Line;
    • Thevenon, Julien;
    • Masurel, Alice
    Publication type:
    Article

  • Exploring the potential role of disease-causing mutation in a gene desert: Duplication of noncoding elements 5′ of GRIA3 is associated with GRIA3 silencing and X-linked intellectual disability.

    Published in:
    Human Mutation, 2012, v. 33, n. 2, p. 355, doi. 10.1002/humu.21649
    By:
    • Bonnet, Céline;
    • Masurel-Paulet, Alice;
    • Khan, Asma Ali;
    • Béri-Dexheimer, Mylène;
    • Callier, Patrick;
    • Mugneret, Francine;
    • Philippe, Christophe;
    • Thauvin-Robinet, Christel;
    • Faivre, Laurence;
    • Jonveaux, Philippe
    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

  • A new family with an SLC9A6 mutation expanding the phenotypic spectrum of Christianson syndrome.

    Published in:
    American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 8, p. 2103, doi. 10.1002/ajmg.a.37765
    By:
    • Masurel‐Paulet, Alice;
    • Piton, Amélie;
    • Chancenotte, Sophie;
    • Redin, Claire;
    • Thauvin‐Robinet, Christel;
    • Henrenger, Yvan;
    • Minot, Delphine;
    • Creppy, Audrey;
    • Ruffier‐Bourdet, Marie;
    • Thevenon, Julien;
    • Kuentz, Paul;
    • Lehalle, Daphné;
    • Curie, Aurore;
    • Blanchard, Gaelle;
    • Ghosn, Ezzat;
    • Bonnet, Marlene;
    • Archimbaud‐Devilliers, Mélanie;
    • Huet, Frédéric;
    • Perret, Odile;
    • Philip, Nicole
    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

  • Delineation of a new chromosome 20q11.2 duplication syndrome including the ASXL1 gene.

    Published in:
    American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 7, p. 1594, doi. 10.1002/ajmg.a.35970
    By:
    • Avila, Magali;
    • Kirchhoff, Maria;
    • Marle, Nathalie;
    • Hove, Hanna D.;
    • Chouchane, Mondher;
    • Thauvin‐Robinet, Christel;
    • Masurel, Alice;
    • Mosca‐Boidron, Anne‐Laure;
    • Callier, Patrick;
    • Mugneret, Francine;
    • Kjaergaard, Susanne;
    • Faivre, Laurence
    Publication type:
    Article

  • The molecular and phenotypic spectrum of IQSEC2-related epilepsy.

    Published in:
    Epilepsia (Series 4), 2016, v. 57, n. 11, p. 1858, doi. 10.1111/epi.13560
    By:
    • Zerem, Ayelet;
    • Haginoya, Kazuhiro;
    • Lev, Dorit;
    • Blumkin, Lubov;
    • Kivity, Sara;
    • Linder, Ilan;
    • Shoubridge, Cheryl;
    • Palmer, Elizabeth Emma;
    • Field, Michael;
    • Boyle, Jackie;
    • Chitayat, David;
    • Gaillard, William D.;
    • Kossoff, Eric H.;
    • Willems, Marjolaine;
    • Geneviève, David;
    • Tran-Mau-Them, Frederic;
    • Epstein, Orna;
    • Heyman, Eli;
    • Dugan, Sarah;
    • Masurel-Paulet, Alice
    Publication type:
    Article