Works matching IS 15524825 AND DT 2015 AND VI 167A AND IP 12

Results: 51
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    The Behavioral Characteristics of Sotos Syndrome.

    Published in:
    American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 12, p. 2945, doi. 10.1002/ajmg.a.37373
    By:
    • Sheth, Krupa;
    • Moss, Joanna;
    • Hyland, Sarah;
    • Stinton, Chris;
    • Cole, Trevor;
    • Oliver, Chris
    Publication type:
    Article
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    NBAS Mutations Cause a Multisystem Disorder Involving Bone, Connective Tissue, Liver, Immune System, and Retina.

    Published in:
    American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 12, p. 2902, doi. 10.1002/ajmg.a.37338
    By:
    • Segarra, Nuria Garcia;
    • Ballhausen, Diana;
    • Crawford, Heather;
    • Perreau, Matthieu;
    • Campos‐Xavier, Belinda;
    • van Spaendonck‐Zwarts, Karin;
    • Vermeer, Cees;
    • Russo, Michel;
    • Zambelli, Pierre‐Yves;
    • Stevenson, Brian;
    • Royer‐Bertrand, Beryl;
    • Rivolta, Carlo;
    • Candotti, Fabio;
    • Unger, Sheila;
    • Munier, Francis L.;
    • Superti‐Furga, Andrea;
    • Bonafé, Luisa
    Publication type:
    Article
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    Identification of Disrupted AUTS2 and EPHA6 Genes by Array Painting in a Patient Carrying a De Novo Balanced Translocation t(3;7) with Intellectual Disability and Neurodevelopment Disorder.

    Published in:
    American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 12, p. 3031, doi. 10.1002/ajmg.a.37350
    By:
    • Schneider, Anouck;
    • Puechberty, Jacques;
    • Ng, Bee Ling;
    • Coubes, Christine;
    • Gatinois, Vincent;
    • Tournaire, Magali;
    • Girard, Manon;
    • Dumont, Bruno;
    • Bouret, Pauline;
    • Magnetto, Julia;
    • Baghdadli, Amaria;
    • Pellestor, Franck;
    • Geneviève, David
    Publication type:
    Article
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    Congenital Anomalies Associated with Trisomy 18 or Trisomy 13: A Registry-Based Study in 16 European Countries, 2000-2011.

    Published in:
    American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 12, p. 3062, doi. 10.1002/ajmg.a.37355
    By:
    • Springett, Anna;
    • Wellesley, Diana;
    • Greenlees, Ruth;
    • Loane, Maria;
    • Addor, Marie‐Claude;
    • Arriola, Larraitz;
    • Bergman, Jorieke;
    • Cavero‐Carbonell, Clara;
    • Csaky‐Szunyogh, Melinda;
    • Draper, Elizabeth S.;
    • Garne, Ester;
    • Gatt, Miriam;
    • Haeusler, Martin;
    • Khoshnood, Babak;
    • Klungsoyr, Kari;
    • Lynch, Catherine;
    • Dias, Carlos Matias;
    • McDonnell, Robert;
    • Nelen, Vera;
    • O'Mahony, Mary
    Publication type:
    Article
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    7q11.23 Duplication Syndrome: Physical Characteristics and Natural History.

    Published in:
    American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 12, p. 2916, doi. 10.1002/ajmg.a.37340
    By:
    • Morris, Colleen A.;
    • Mervis, Carolyn B.;
    • Paciorkowski, Alex P.;
    • Abdul‐Rahman, Omar;
    • Dugan, Sarah L.;
    • Rope, Alan F.;
    • Bader, Patricia;
    • Hendon, Laura G.;
    • Velleman, Shelley L.;
    • Klein‐Tasman, Bonita P.;
    • Osborne, Lucy R.
    Publication type:
    Article
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    Recurrent Duplications of 17q12 Associated with Variable Phenotypes.

    Published in:
    American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 12, p. 3038, doi. 10.1002/ajmg.a.37351
    By:
    • Mitchell, Elyse;
    • Douglas, Andrew;
    • Kjaegaard, Susanne;
    • Callewaert, Bert;
    • Vanlander, Arnaud;
    • Janssens, Sandra;
    • Yuen, Amy Lawson;
    • Skinner, Cindy;
    • Failla, Pinella;
    • Alberti, Antonino;
    • Avola, Emanuela;
    • Fichera, Marco;
    • Kibaek, Maria;
    • Digilio, Maria C.;
    • Hannibal, Mark C.;
    • den Hollander, Nicolette S.;
    • Bizzarri, Veronica;
    • Renieri, Alessandra;
    • Mencarelli, Maria Antonietta;
    • Fitzgerald, Tomas
    Publication type:
    Article
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    Familial Recurrences of FOXG1-Related Disorder: Evidence for Mosaicism.

    Published in:
    American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 12, p. 3096, doi. 10.1002/ajmg.a.37353
    By:
    • McMahon, Kelly Q.;
    • Papandreou, Apostolos;
    • Ma, Mandy;
    • Barry, Brenda J.;
    • Mirzaa, Ghayda M.;
    • Dobyns, William B.;
    • Scott, Richard H.;
    • Trump, Natalie;
    • Kurian, Manju A.;
    • Paciorkowski, Alex R.
    Publication type:
    Article
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    11q24.2-25 Micro-Rearrangements in Autism Spectrum Disorders: Relation to Brain Structures.

    Published in:
    American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 12, p. 3019, doi. 10.1002/ajmg.a.37345
    By:
    • Maruani, Anna;
    • Huguet, Guillaume;
    • Beggiato, Anita;
    • ElMaleh, Monique;
    • Toro, Roberto;
    • Leblond, Claire S.;
    • Mathieu, Alexandre;
    • Amsellem, Frederique;
    • Lemière, Nathalie;
    • Verloes, Alain;
    • Leboyer, Marion;
    • Gillberg, Christopher;
    • Bourgeron, Thomas;
    • Delorme, Richard
    Publication type:
    Article
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    Association Between Kniest Dysplasia and Chondrosarcoma in a Child.

    Published in:
    American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 12, p. 3204, doi. 10.1002/ajmg.a.37361
    By:
    • Hochart, Audrey;
    • Dieux, Anne;
    • Coucke, Paul;
    • Fron, Damien;
    • Fayoux, Pierre;
    • Labalette, Pierre;
    • Boutry, Nathalie;
    • Escande, Fabienne;
    • Aubert, Sébastien;
    • Renaud, Florence;
    • Rocourt, Nathalie;
    • Vinchon, Matthieu;
    • Leblond, Pierre
    Publication type:
    Article
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    Expanding the Phenotype of Feingold Syndrome-2.

    Published in:
    American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 12, p. 3219, doi. 10.1002/ajmg.a.37368
    By:
    • Grote, Lauren E.;
    • Repnikova, Elena A.;
    • Amudhavalli, Shivarajan M.
    Publication type:
    Article
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    Compound Heterozygous PKHD1 Variants Cause a Wide Spectrum of Ductal Plate Malformations.

    Published in:
    American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 12, p. 3046, doi. 10.1002/ajmg.a.37352
    By:
    • Courcet, Jean‐Benoît;
    • Minello, Anne;
    • Prieur, Fabienne;
    • Morisse, Laurent;
    • Phelip, Jean‐Marc;
    • Beurdeley, Alain;
    • Meynard, Daniel;
    • Massenet, Denis;
    • Lacassin, Flore;
    • Duffourd, Yannis;
    • Gigot, Nadège;
    • St‐Onge, Judith;
    • Hillon, Patrick;
    • Vanlemmens, Claire;
    • Mousson, Christiane;
    • Cerceuil, Jean‐Pierre;
    • Guiu, Boris;
    • Thevenon, Julien;
    • Thauvin‐Robinet, Christel;
    • Jacquemin, Emmanuel
    Publication type:
    Article
    37

    Paternal Uniparental Disomy Chromosome 14-Like Syndrome due a Maternal De Novo 160 kb Deletion at the 14q32.2 Region Not Encompassing the IG- and the MEG3-DMRs: Patient Report and Genotype-Phenotype Correlation.

    Published in:
    American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 12, p. 3130, doi. 10.1002/ajmg.a.37293
    By:
    • Corsello, Giovanni;
    • Salzano, Emanuela;
    • Vecchio, Davide;
    • Antona, Vincenzo;
    • Grasso, Marina;
    • Malacarne, Michela;
    • Carella, Massimo;
    • Palumbo, Pietro;
    • Piro, Ettore;
    • Giuffrè, Mario
    Publication type:
    Article
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    Exome Analysis of a Family with Wolff-Parkinson-White Syndrome Identifies a Novel Disease Locus.

    Published in:
    American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 12, p. 2975, doi. 10.1002/ajmg.a.37297
    By:
    • Bowles, Neil E.;
    • Jou, Chuanchau J.;
    • Arrington, Cammon B.;
    • Kennedy, Brett J.;
    • Earl, Aubree;
    • Matsunami, Norisada;
    • Meyers, Lindsay L.;
    • Etheridge, Susan P.;
    • Saarel, Elizabeth V.;
    • Bleyl, Steven B.;
    • Yost, H. Joseph;
    • Yandell, Mark;
    • Leppert, Mark F.;
    • Tristani‐Firouzi, Martin;
    • Gruber, Peter J.
    Publication type:
    Article
    39

    PDZD7 and Hearing Loss: More Than Just a Modifier.

    Published in:
    American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 12, p. 2957, doi. 10.1002/ajmg.a.37274
    By:
    • Booth, Kevin T.;
    • Azaiez, Hela;
    • Kahrizi, Kimia;
    • Simpson, Allen C.;
    • Tollefson, William T.A.;
    • Sloan, Christina M.;
    • Meyer, Nicole C.;
    • Babanejad, Mojgan;
    • Ardalani, Fariba;
    • Arzhangi, Sanaz;
    • Schnieders, Michael J.;
    • Najmabadi, Hossein;
    • Smith, Richard J.H.
    Publication type:
    Article
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    Nosology and Classification of Genetic Skeletal Disorders: 2015 Revision.

    Published in:
    American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 12, p. 2869, doi. 10.1002/ajmg.a.37365
    By:
    • Bonafe, Luisa;
    • Cormier‐Daire, Valerie;
    • Hall, Christine;
    • Lachman, Ralph;
    • Mortier, Geert;
    • Mundlos, Stefan;
    • Nishimura, Gen;
    • Sangiorgi, Luca;
    • Savarirayan, Ravi;
    • Sillence, David;
    • Spranger, Jürgen;
    • Superti‐Furga, Andrea;
    • Warman, Matthew;
    • Unger, Sheila
    Publication type:
    Article
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    Clinical and Genetic Characteristics of Craniosynostosis in Hungary.

    Published in:
    American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 12, p. 2985, doi. 10.1002/ajmg.a.37298
    By:
    • Bessenyei, Beáta;
    • Nagy, Andrea;
    • Szakszon, Katalin;
    • Mokánszki, Attila;
    • Balogh, Erzsébet;
    • Ujfalusi, Anikó;
    • Tihanyi, Mariann;
    • Novák, László;
    • Bognár, László;
    • Oláh, Éva
    Publication type:
    Article
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    IN THIS ISSUE.

    Published in:
    American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 12, p. xi, doi. 10.1002/ajmg.a.37458
    Publication type:
    Article
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