Works matching IS 10184813 AND DT 2014 AND VI 22 AND IP 1

Results: 34
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    CHEK2*1100delC homozygosity in the Netherlands-prevalence and risk of breast and lung cancer.

    Published in:
    European Journal of Human Genetics, 2014, v. 22, n. 1, p. 46, doi. 10.1038/ejhg.2013.85
    By:
    • Huijts, Petra EA;
    • Hollestelle, Antoinette;
    • Balliu, Brunilda;
    • Houwing-Duistermaat, Jeanine J;
    • Meijers, Caro M;
    • Blom, Jannet C;
    • Ozturk, Bahar;
    • Krol-Warmerdam, Elly MM;
    • Wijnen, Juul;
    • Berns, Els MJJ;
    • Martens, John WM;
    • Seynaeve, Caroline;
    • Kiemeney, Lambertus A;
    • van der Heijden, Henricus F;
    • Tollenaar, Rob AEM;
    • Devilee, Peter;
    • van Asperen, Christi J
    Publication type:
    Article
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    Somatic mosaicism in trichorhinophalangeal syndrome: a lesson for genetic counseling.

    Published in:
    European Journal of Human Genetics, 2014, v. 22, n. 1, p. 136, doi. 10.1038/ejhg.2013.56
    By:
    • Corsini, Carole;
    • Gencik, Martin;
    • Willems, Marjolaine;
    • Decker, Eva;
    • Sanchez, Elodie;
    • Puechberty, Jacques;
    • Schneider, Anouck;
    • Girard, Manon;
    • Edery, Patrick;
    • Bretonnes, Patricia;
    • Cottalorda, Jérôme;
    • Lefort, Geneviève;
    • Jeandel, Claire;
    • Sarda, Pierre;
    • Genevieve, David
    Publication type:
    Article
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    Combined array CGH plus SNP genome analyses in a single assay for optimized clinical testing.

    Published in:
    European Journal of Human Genetics, 2014, v. 22, n. 1, p. 79, doi. 10.1038/ejhg.2013.77
    By:
    • Wiszniewska, Joanna;
    • Bi, Weimin;
    • Shaw, Chad;
    • Stankiewicz, Pawel;
    • Kang, Sung-Hae L;
    • Pursley, Amber N;
    • Lalani, Seema;
    • Hixson, Patricia;
    • Gambin, Tomasz;
    • Tsai, Chun-hui;
    • Bock, Hans-Georg;
    • Descartes, Maria;
    • Probst, Frank J;
    • Scaglia, Fernando;
    • Beaudet, Arthur L;
    • Lupski, James R;
    • Eng, Christine;
    • Wai Cheung, Sau;
    • Bacino, Carlos;
    • Patel, Ankita
    Publication type:
    Article
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    Rare copy number variation in cerebral palsy.

    Published in:
    European Journal of Human Genetics, 2014, v. 22, n. 1, p. 40, doi. 10.1038/ejhg.2013.93
    By:
    • McMichael, Gai;
    • Girirajan, Santhosh;
    • Moreno-De-Luca, Andres;
    • Gecz, Jozef;
    • Shard, Chloe;
    • Nguyen, Lam Son;
    • Nicholl, Jillian;
    • Gibson, Catherine;
    • Haan, Eric;
    • Eichler, Evan;
    • Martin, Christa Lese;
    • MacLennan, Alastair
    Publication type:
    Article
    15

    Reply to Townsend et al.

    Published in:
    European Journal of Human Genetics, 2014, v. 22, n. 1, p. 7, doi. 10.1038/ejhg.2013.95
    By:
    • Ayuso, Carmen;
    • Millán, José M;
    • Mancheño, Marta;
    • Dal-Ré, Rafael
    Publication type:
    Article
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    Panel-based next generation sequencing as a reliable and efficient technique to detect mutations in unselected patients with retinal dystrophies.

    Published in:
    European Journal of Human Genetics, 2014, v. 22, n. 1, p. 99, doi. 10.1038/ejhg.2013.72
    By:
    • Glöckle, Nicola;
    • Kohl, Susanne;
    • Mohr, Julia;
    • Scheurenbrand, Tim;
    • Sprecher, Andrea;
    • Weisschuh, Nicole;
    • Bernd, Antje;
    • Rudolph, Günther;
    • Schubach, Max;
    • Poloschek, Charlotte;
    • Zrenner, Eberhart;
    • Biskup, Saskia;
    • Berger, Wolfgang;
    • Wissinger, Bernd;
    • Neidhardt, John
    Publication type:
    Article
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    Reciprocal deletion and duplication at 2q23.1 indicates a role for MBD5 in autism spectrum disorder.

    Published in:
    European Journal of Human Genetics, 2014, v. 22, n. 1, p. 57, doi. 10.1038/ejhg.2013.67
    By:
    • Mullegama, Sureni V;
    • Rosenfeld, Jill A;
    • Orellana, Carmen;
    • van Bon, Bregje W M;
    • Halbach, Sara;
    • Repnikova, Elena A;
    • Brick, Lauren;
    • Li, Chumei;
    • Dupuis, Lucie;
    • Rosello, Monica;
    • Aradhya, Swaroop;
    • Stavropoulos, D James;
    • Manickam, Kandamurugu;
    • Mitchell, Elyse;
    • Hodge, Jennelle C;
    • Talkowski, Michael E;
    • Gusella, James F;
    • Keller, Kory;
    • Zonana, Jonathan;
    • Schwartz, Stuart
    Publication type:
    Article
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    Prospective diagnostic analysis of copy number variants using SNP microarrays in individuals with autism spectrum disorders.

    Published in:
    European Journal of Human Genetics, 2014, v. 22, n. 1, p. 71, doi. 10.1038/ejhg.2013.88
    By:
    • Nava, Caroline;
    • Keren, Boris;
    • Mignot, Cyril;
    • Rastetter, Agnès;
    • Chantot-Bastaraud, Sandra;
    • Faudet, Anne;
    • Fonteneau, Eric;
    • Amiet, Claire;
    • Laurent, Claudine;
    • Jacquette, Aurélia;
    • Whalen, Sandra;
    • Afenjar, Alexandra;
    • Périsse, Didier;
    • Doummar, Diane;
    • Dorison, Nathalie;
    • Leboyer, Marion;
    • Siffroi, Jean-Pierre;
    • Cohen, David;
    • Brice, Alexis;
    • Héron, Delphine
    Publication type:
    Article
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    Analysis of all subunits, SDHA, SDHB, SDHC, SDHD, of the succinate dehydrogenase complex in KIT/PDGFRA wild-type GIST.

    Published in:
    European Journal of Human Genetics, 2014, v. 22, n. 1, p. 32, doi. 10.1038/ejhg.2013.80
    By:
    • Pantaleo, Maria A;
    • Astolfi, Annalisa;
    • Urbini, Milena;
    • Nannini, Margherita;
    • Paterini, Paola;
    • Indio, Valentina;
    • Saponara, Maristella;
    • Formica, Serena;
    • Ceccarelli, Claudio;
    • Casadio, Rita;
    • Rossi, Giulio;
    • Bertolini, Federica;
    • Santini, Donatella;
    • Pirini, Maria G;
    • Fiorentino, Michelangelo;
    • Basso, Umberto;
    • Biasco, Guido
    Publication type:
    Article
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