Works matching IS 10184813 AND DT 2013 AND VI 21 AND IP 1

Results: 25
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    Twenty-year trends in the prevalence of Down syndrome and other trisomies in Europe: impact of maternal age and prenatal screening.

    Published in:
    European Journal of Human Genetics, 2013, v. 21, n. 1, p. 27, doi. 10.1038/ejhg.2012.94
    By:
    • Loane, Maria;
    • Morris, Joan K;
    • Addor, Marie-Claude;
    • Arriola, Larraitz;
    • Budd, Judith;
    • Doray, Berenice;
    • Garne, Ester;
    • Gatt, Miriam;
    • Haeusler, Martin;
    • Khoshnood, Babak;
    • Klungsøyr Melve, Kari;
    • Latos-Bielenska, Anna;
    • McDonnell, Bob;
    • Mullaney, Carmel;
    • O'Mahony, Mary;
    • Queißer-Wahrendorf, Annette;
    • Rankin, Judith;
    • Rissmann, Anke;
    • Rounding, Catherine;
    • Salvador, Joaquin
    Publication type:
    Article
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    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
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    A variant in the carboxyl-terminus of connexin 40 alters GAP junctions and increases risk for tetralogy of Fallot.

    Published in:
    European Journal of Human Genetics, 2013, v. 21, n. 1, p. 69, doi. 10.1038/ejhg.2012.109
    By:
    • Guida, Valentina;
    • Ferese, Rosangela;
    • Rocchetti, Marcella;
    • Bonetti, Monica;
    • Sarkozy, Anna;
    • Cecchetti, Serena;
    • Gelmetti, Vania;
    • Lepri, Francesca;
    • Copetti, Massimiliano;
    • Lamorte, Giuseppe;
    • Cristina Digilio, Maria;
    • Marino, Bruno;
    • Zaza, Antonio;
    • den Hertog, Jeroen;
    • Dallapiccola, Bruno;
    • De Luca, Alessandro
    Publication type:
    Article
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    The C9ORF72 expansion mutation is a common cause of ALS+/−FTD in Europe and has a single founder.

    Published in:
    European Journal of Human Genetics, 2013, v. 21, n. 1, p. 102, doi. 10.1038/ejhg.2012.98
    By:
    • Smith, Bradley N;
    • Newhouse, Stephen;
    • Shatunov, Aleksey;
    • Vance, Caroline;
    • Topp, Simon;
    • Johnson, Lauren;
    • Miller, Jack;
    • Lee, Younbok;
    • Troakes, Claire;
    • Scott, Kirsten M;
    • Jones, Ashley;
    • Gray, Ian;
    • Wright, Jamie;
    • Hortobágyi, Tibor;
    • Al-Sarraj, Safa;
    • Rogelj, Boris;
    • Powell, John;
    • Lupton, Michelle;
    • Lovestone, Simon;
    • Sapp, Peter C
    Publication type:
    Article
    16

    Small effective population size and genetic homogeneity in the Val Borbera isolate.

    Published in:
    European Journal of Human Genetics, 2013, v. 21, n. 1, p. 89, doi. 10.1038/ejhg.2012.113
    By:
    • Colonna, Vincenza;
    • Pistis, Giorgio;
    • Bomba, Lorenzo;
    • Mona, Stefano;
    • Matullo, Giuseppe;
    • Boano, Rosa;
    • Sala, Cinzia;
    • Viganò, Fiammetta;
    • Torroni, Antonio;
    • Achilli, Alessandro;
    • Hooshiar Kashani, Baharak;
    • Malerba, Giovanni;
    • Gambaro, Giovanni;
    • Soranzo, Nicole;
    • Toniolo, Daniela
    Publication type:
    Article
    17

    Agenesis of the corpus callosum and gray matter heterotopia in three patients with constitutional mismatch repair deficiency syndrome.

    Published in:
    European Journal of Human Genetics, 2013, v. 21, n. 1, p. 55, doi. 10.1038/ejhg.2012.117
    By:
    • Baas, Annette F;
    • Gabbett, Michael;
    • Rimac, Milan;
    • Kansikas, Minttu;
    • Raphael, Martine;
    • Nievelstein, Rutger AJ;
    • Nicholls, Wayne;
    • Offerhaus, Johan;
    • Bodmer, Danielle;
    • Wernstedt, Annekatrin;
    • Krabichler, Birgit;
    • Strasser, Ulrich;
    • Nyström, Minna;
    • Zschocke, Johannes;
    • Robertson, Stephen P;
    • van Haelst, Mieke M;
    • Wimmer, Katharina
    Publication type:
    Article
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    Bardet-Biedl syndrome.

    Published in:
    European Journal of Human Genetics, 2013, v. 21, n. 1, p. 8, doi. 10.1038/ejhg.2012.115
    By:
    • Forsythe, Elizabeth;
    • Beales, Philip L
    Publication type:
    Article
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    Developing a policy for paediatric biobanks: principles for good practice.

    Published in:
    European Journal of Human Genetics, 2013, v. 21, n. 1, p. 2, doi. 10.1038/ejhg.2012.99
    By:
    • Hens, Kristien;
    • Van El, Carla E;
    • Borry, Pascal;
    • Cambon-Thomsen, Anne;
    • Cornel, Martina C;
    • Forzano, Francesca;
    • Lucassen, Anneke;
    • Patch, Christine;
    • Tranebjaerg, Lisbeth;
    • Vermeulen, Eric;
    • Salvaterra, Elena;
    • Tibben, Aad;
    • Dierickx, Kris
    Publication type:
    Article