Works matching IS 03406717 AND DT 2015 AND VI 134 AND IP 6

Results: 15
    1

    Exome sequencing unravels unexpected differential diagnoses in individuals with the tentative diagnosis of Coffin-Siris and Nicolaides-Baraitser syndromes.

    Published in:
    Human Genetics, 2015, v. 134, n. 6, p. 553, doi. 10.1007/s00439-015-1535-8
    By:
    • Bramswig, Nuria;
    • Lüdecke, Hermann-Josef;
    • Alanay, Yasemin;
    • Albrecht, Beate;
    • Barthelmie, Alexander;
    • Boduroglu, Koray;
    • Braunholz, Diana;
    • Caliebe, Almuth;
    • Chrzanowska, Krystyna;
    • Czeschik, Johanna;
    • Endele, Sabine;
    • Graf, Elisabeth;
    • Guillén-Navarro, Encarna;
    • Kiper, Pelin;
    • López-González, Vanesa;
    • Parenti, Ilaria;
    • Pozojevic, Jelena;
    • Utine, Gulen;
    • Wieland, Thomas;
    • Kaiser, Frank
    Publication type:
    Article
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    Characterization of 26 deletion CNVs reveals the frequent occurrence of micro-mutations within the breakpoint-flanking regions and frequent repair of double-strand breaks by templated insertions derived from remote genomic regions.

    Published in:
    Human Genetics, 2015, v. 134, n. 6, p. 589, doi. 10.1007/s00439-015-1539-4
    By:
    • Wang, Ye;
    • Su, Peiqiang;
    • Hu, Bin;
    • Zhu, Wenjuan;
    • Li, Qibin;
    • Yuan, Ping;
    • Li, Jiangchao;
    • Guan, Xinyuan;
    • Li, Fucheng;
    • Jing, Xiangyi;
    • Li, Ru;
    • Zhang, Yongling;
    • Férec, Claude;
    • Cooper, David;
    • Wang, Jun;
    • Huang, Dongsheng;
    • Chen, Jian-Min;
    • Wang, Yiming
    Publication type:
    Article
    6
    7

    Homozygous MED25 mutation implicated in eye-intellectual disability syndrome.

    Published in:
    Human Genetics, 2015, v. 134, n. 6, p. 577, doi. 10.1007/s00439-015-1541-x
    By:
    • Basel-Vanagaite, Lina;
    • Smirin-Yosef, Pola;
    • Essakow, Jenna;
    • Tzur, Shay;
    • Lagovsky, Irina;
    • Maya, Idit;
    • Pasmanik-Chor, Metsada;
    • Yeheskel, Adva;
    • Konen, Osnat;
    • Orenstein, Naama;
    • Weisz Hubshman, Monika;
    • Drasinover, Valerie;
    • Magal, Nurit;
    • Peretz Amit, Gaby;
    • Zalzstein, Yael;
    • Zeharia, Avraham;
    • Shohat, Mordechai;
    • Straussberg, Rachel;
    • Monté, Didier;
    • Salmon-Divon, Mali
    Publication type:
    Article
    8

    Characterization of 14 novel deletions underlying Rubinstein-Taybi syndrome: an update of the CREBBP deletion repertoire.

    Published in:
    Human Genetics, 2015, v. 134, n. 6, p. 613, doi. 10.1007/s00439-015-1542-9
    By:
    • Rusconi, Daniela;
    • Negri, Gloria;
    • Colapietro, Patrizia;
    • Picinelli, Chiara;
    • Milani, Donatella;
    • Spena, Silvia;
    • Magnani, Cinzia;
    • Silengo, Margherita;
    • Sorasio, Lorena;
    • Curtisova, Vaclava;
    • Cavaliere, Maria;
    • Prontera, Paolo;
    • Stangoni, Gabriela;
    • Ferrero, Giovanni;
    • Biamino, Elisa;
    • Fischetto, Rita;
    • Piccione, Maria;
    • Gasparini, Paolo;
    • Salviati, Leonardo;
    • Selicorni, Angelo
    Publication type:
    Article
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    14

    A genome-wide expression quantitative trait loci analysis of proprotein convertase subtilisin/kexin enzymes identifies a novel regulatory gene variant for FURIN expression and blood pressure.

    Published in:
    Human Genetics, 2015, v. 134, n. 6, p. 627, doi. 10.1007/s00439-015-1546-5
    By:
    • Turpeinen, Hannu;
    • Seppälä, Ilkka;
    • Lyytikäinen, Leo-Pekka;
    • Raitoharju, Emma;
    • Hutri-Kähönen, Nina;
    • Levula, Mari;
    • Oksala, Niku;
    • Waldenberger, Melanie;
    • Klopp, Norman;
    • Illig, Thomas;
    • Mononen, Nina;
    • Laaksonen, Reijo;
    • Raitakari, Olli;
    • Kähönen, Mika;
    • Lehtimäki, Terho;
    • Pesu, Marko
    Publication type:
    Article
    15