Found: 10

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  • Interest of exome sequencing trio‐like strategy based on pooled parental DNA for diagnosis and translational research in rare diseases.

    Published in:
    Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 12, p. 1, doi. 10.1002/mgg3.1836
    By:
    • Tran Mau‐Them, Frederic;
    • Duffourd, Yannis;
    • Vitobello, Antonio;
    • Bruel, Ange‐Line;
    • Denommé‐Pichon, Anne‐Sophie;
    • Nambot, Sophie;
    • Delanne, Julian;
    • Moutton, Sebastien;
    • Sorlin, Arthur;
    • Couturier, Victor;
    • Bourgeois, Valentin;
    • Chevarin, Martin;
    • Poe, Charlotte;
    • Mosca‐Boidron, Anne‐Laure;
    • Callier, Patrick;
    • Safraou, Hana;
    • Faivre, Laurence;
    • Philippe, Christophe;
    • Thauvin‐Robinet, Christel
    Publication type:
    Article

  • Delineating the psychiatric and behavioral phenotype of recurrent 2q13 deletions and duplications.

    Published in:
    American Journal of Medical Genetics. Part B: Neuropsychiatric Genetics, 2018, v. 177, n. 4, p. 397, doi. 10.1002/ajmg.b.32627
    By:
    • Wolfe, Kate;
    • McQuillin, Andrew;
    • Alesi, Viola;
    • Boudry Labis, Elise;
    • Cutajar, Peter;
    • Dallapiccola, Bruno;
    • Dentici, Maria Lisa;
    • Dieux‐Coeslier, Anne;
    • Duban‐Bedu, Benedicte;
    • Duelund Hjortshøj, Tina;
    • Goel, Himanshu;
    • Loddo, Sara;
    • Morrogh, Deborah;
    • Mosca‐Boidron, Anne‐Laure;
    • Novelli, Antonio;
    • Olivier‐Faivre, Laurence;
    • Parker, Jennifer;
    • Parker, Michael J.;
    • Patch, Christine;
    • Pelling, Anna L.
    Publication type:
    Article

  • Extending the ALDH18A1 clinical spectrum to severe autosomal recessive fetal cutis laxa with corpus callosum agenesis.

    Published in:
    American Journal of Medical Genetics. Part A, 2018, v. 176, n. 11, p. 2509, doi. 10.1002/ajmg.a.40515
    By:
    • Lefebvre, Mathilde;
    • Beaufrere, Anne‐Marie;
    • Francannet, Christine;
    • Laurichesse, Helene;
    • Poe, Charlotte;
    • Jouan, Thibaud;
    • Troude, Baptiste;
    • Dechelotte, Pierre;
    • Vabres, Pierre;
    • Briard, Marie;
    • Mosca‐Boidron, Anne‐Laure;
    • Duffourd, Yannis;
    • Faivre, Laurence;
    • Thevenon, Julien;
    • Thauvin‐Robinet, Christel
    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

  • Delineation of the 3p14.1p13 microdeletion associated with syndromic distal limb contractures.

    Published in:
    American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 12, p. 3027, doi. 10.1002/ajmg.a.36751
    By:
    • ThevENon, JuliEN;
    • Monnier, Nicole;
    • Callier, Patrick;
    • Dieterich, Klaus;
    • Francoise, Michel;
    • Montgomery, Tara;
    • Kjaergaard, Susanne;
    • Neas, Katherine;
    • Dixon, Joanne;
    • Dahm, Thomas Lee;
    • Huet, Frédéric;
    • Ragon, ClémENce;
    • Mosca ‐ Boidron, Anne ‐ Laure;
    • Marle, Nathalie;
    • Duplomb, LaurENce;
    • Aubriot ‐ Lorton, Marie ‐ Hélène;
    • Mugneret, Francine;
    • Vokes, Steve A.;
    • Tucker, Haley W.;
    • Lunardi, Joël
    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

  • Additional evidence to support the role of the 20q13.33 region in susceptibility to autism.

    Published in:
    American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 6, p. 1505, doi. 10.1002/ajmg.a.35878
    By:
    • Mosca‐Boidron, Anne‐Laure;
    • Valduga, Mylène;
    • Thauvin‐Robinet, Christel;
    • Lagarde, Nathalie;
    • Marle, Nathalie;
    • Henry, Céline;
    • Pinoit, Jean‐Michel;
    • Huet, Frédéric;
    • Béri‐Deixheimer, Mylène;
    • Ragon, Clémence;
    • Gueneau, Lucie;
    • Payet, Muriel;
    • Callier, Patrick;
    • Mugneret, Francine;
    • Jonveaux, Philippe;
    • Faivre, Laurence
    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

  • 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

  • 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