Works matching IS 10184813 AND DT 2012 AND VI 20 AND IP 6

Results: 24
    1

    A large duplication involving the IHH locus mimics acrocallosal syndrome.

    Published in:
    European Journal of Human Genetics, 2012, v. 20, n. 6, p. 639, doi. 10.1038/ejhg.2011.250
    By:
    • Yuksel-Apak, Memnune;
    • Bögershausen, Nina;
    • Pawlik, Barbara;
    • Li, Yun;
    • Apak, Selcuk;
    • Uyguner, Oya;
    • Milz, Esther;
    • Nürnberg, Gudrun;
    • Karaman, Birsen;
    • Gülgören, Ayan;
    • Grzeschik, Karl-Heinz;
    • Nürnberg, Peter;
    • Kayserili, Hülya;
    • Wollnik, Bernd
    Publication type:
    Article
    2

    Meier-Gorlin syndrome genotype-phenotype studies: 35 individuals with pre-replication complex gene mutations and 10 without molecular diagnosis.

    Published in:
    European Journal of Human Genetics, 2012, v. 20, n. 6, p. 598, doi. 10.1038/ejhg.2011.269
    By:
    • de Munnik, Sonja A;
    • Bicknell, Louise S;
    • Aftimos, Salim;
    • Al-Aama, Jumana Y;
    • van Bever, Yolande;
    • Bober, Michael B;
    • Clayton-Smith, Jill;
    • Edrees, Alaa Y;
    • Feingold, Murray;
    • Fryer, Alan;
    • van Hagen, Johanna M;
    • Hennekam, Raoul C;
    • Jansweijer, Maaike C E;
    • Johnson, Diana;
    • Kant, Sarina G;
    • Opitz, John M;
    • Ramadevi, A Radha;
    • Reardon, Willie;
    • Ross, Alison;
    • Sarda, Pierre
    Publication type:
    Article
    3
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    5

    Clinical utility gene card for: Nemaline myopathy.

    Published in:
    European Journal of Human Genetics, 2012, v. 20, n. 6, p. 1, doi. 10.1038/ejhg.2012.70
    By:
    • Nowak, Kristen J;
    • Davis, Mark R;
    • Wallgren-Pettersson, Carina;
    • Lamont, Phillipa J;
    • Laing, Nigel G
    Publication type:
    Article
    6
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    9

    A genome-wide study reveals rare CNVs exclusive to extreme phenotypes of Alzheimer disease.

    Published in:
    European Journal of Human Genetics, 2012, v. 20, n. 6, p. 613, doi. 10.1038/ejhg.2011.225
    By:
    • Rovelet-Lecrux, Anne;
    • Legallic, Solenn;
    • Wallon, David;
    • Flaman, Jean-Michel;
    • Martinaud, Olivier;
    • Bombois, Stéphanie;
    • Rollin-Sillaire, Adeline;
    • Michon, Agnès;
    • Le Ber, Isabelle;
    • Pariente, Jérémie;
    • Puel, Michèle;
    • Paquet, Claire;
    • Croisile, Bernard;
    • Thomas-Antérion, Catherine;
    • Vercelletto, Martine;
    • Lévy, Richard;
    • Frébourg, Thierry;
    • Hannequin, Didier;
    • Campion, Dominique
    Publication type:
    Article
    10
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    12
    13
    14
    15

    Clinical utility gene card for: Alport syndrome.

    Published in:
    European Journal of Human Genetics, 2012, v. 20, n. 6, p. 1, doi. 10.1038/ejhg.2011.237
    By:
    • Hertz, Jens Michael;
    • Thomassen, Mads;
    • Storey, Helen;
    • Flinter, Frances
    Publication type:
    Article
    16
    17

    Multiple orbital neurofibromas, painful peripheral nerve tumors, distinctive face and marfanoid habitus: a new syndrome.

    Published in:
    European Journal of Human Genetics, 2012, v. 20, n. 6, p. 618, doi. 10.1038/ejhg.2011.275
    By:
    • Babovic-Vuksanovic, D;
    • Messiaen, Ludwine;
    • Nagel, Christoph;
    • Brems, Hilde;
    • Scheithauer, Bernd;
    • Denayer, Ellen;
    • Mao, Rong;
    • Sciot, Raf;
    • Janowski, Karen M;
    • Schuhmann, Martin U;
    • Claes, Kathleen;
    • Beert, Eline;
    • Garrity, James A;
    • Spinner, Robert J;
    • Stemmer-Rachamimov, Anat;
    • Gavrilova, Ralitza;
    • Van Calenbergh, Frank;
    • Mautner, Victor;
    • Legius, Eric
    Publication type:
    Article
    18
    19

    KIF1A missense mutations in SPG30, an autosomal recessive spastic paraplegia: distinct phenotypes according to the nature of the mutations.

    Published in:
    European Journal of Human Genetics, 2012, v. 20, n. 6, p. 645, doi. 10.1038/ejhg.2011.261
    By:
    • Klebe, Stephan;
    • Lossos, Alexander;
    • Azzedine, Hamid;
    • Mundwiller, Emeline;
    • Sheffer, Ruth;
    • Gaussen, Marion;
    • Marelli, Cecilia;
    • Nawara, Magdalena;
    • Carpentier, Wassila;
    • Meyer, Vincent;
    • Rastetter, Agnès;
    • Martin, Elodie;
    • Bouteiller, Delphine;
    • Orlando, Laurent;
    • Gyapay, Gabor;
    • El-Hachimi, Khalid H;
    • Zimmerman, Batel;
    • Gamliel, Moriya;
    • Misk, Adel;
    • Lerer, Israela
    Publication type:
    Article
    20
    21

    Single-nucleotide polymorphisms in the P2X7 receptor gene are associated with post-menopausal bone loss and vertebral fractures.

    Published in:
    European Journal of Human Genetics, 2012, v. 20, n. 6, p. 675, doi. 10.1038/ejhg.2011.253
    By:
    • Jørgensen, Niklas R;
    • Husted, Lise B;
    • Skarratt, Kristen K;
    • Stokes, Leanne;
    • Tofteng, Charlotte L;
    • Kvist, Torben;
    • Jensen, Jens-Erik B;
    • Eiken, Pia;
    • Brixen, Kim;
    • Fuller, Stephen;
    • Clifton-Bligh, Rory;
    • Gartland, Alison;
    • Schwarz, Peter;
    • Langdahl, Bente L;
    • Wiley, James S
    Publication type:
    Article
    22

    Reply to Amor et al.

    Published in:
    European Journal of Human Genetics, 2012, v. 20, n. 6, p. 597, doi. 10.1038/ejhg.2011.270
    By:
    • Brunetti-Pierri, Nicola;
    • Cheung, Sau Wai;
    • Stankiewicz, Paweł
    Publication type:
    Article
    23
    24

    Imaging genetics of FOXP2 in dyslexia.

    Published in:
    European Journal of Human Genetics, 2012, v. 20, n. 6, p. 714, doi. 10.1038/ejhg.2012.31
    By:
    • Wilcke, Arndt;
    • Jana Burkhardt, Carolin Ligges;
    • Alexander, Michael;
    • Wolf, Christiane;
    • Quente, Elfi;
    • Ahnert, Peter;
    • Hoffmann, Per;
    • Becker, Albert;
    • Müller-Myhsok, Bertram;
    • Cichon, Sven;
    • Boltze, Johannes;
    • Kirsten, Holger
    Publication type:
    Article