Works matching IS 0964-6906 AND VI 24 AND IP 14 AND DT 2015

Results: 25
    1

    Whole-exome sequencing reveals ZNF408 as a new gene associated with autosomal recessive retinitis pigmentosa with vitreal alterations.

    Published in:
    Human Molecular Genetics, 2015, v. 24, n. 14, p. 4037, doi. 10.1093/hmg/ddv140
    By:
    • Avila-Fernandez, Almudena;
    • Perez-Carro, Raquel;
    • Corton, Marta;
    • Lopez-Molina, Maria Isabel;
    • Campello, Laura;
    • Garanto, Alejandro;
    • Fernandez-Sanchez, Laura;
    • Duijkers, Lonneke;
    • Martinez, Miguel Angel Lopez;
    • Riveiro-Alvarez, Rosa;
    • Silva, Luciana Rodrigues Jacy Da;
    • Sanchez-Alcudia, Rocío;
    • Martin-Garrido, Esther;
    • Reyes, Noelia;
    • Garcia-Garcia, Francisco;
    • Dopazo, Joaquin;
    • Garcia-Sandoval, Blanca;
    • Collin, Rob W. J.;
    • Cuenca, Nicolas;
    • Ayuso, Carmen
    Publication type:
    Article
    2
    3

    Specific variants in WDR35 cause a distinctive form of Ellis-van Creveld syndrome by disrupting the recruitment of the EvC complex and SMO into the cilium.

    Published in:
    Human Molecular Genetics, 2015, v. 24, n. 14, p. 4126, doi. 10.1093/hmg/ddv152
    By:
    • Caparrós-Martín, José A.;
    • De Luca, Alessandro;
    • Cartault, François;
    • Aglan, Mona;
    • Temtamy, Samia;
    • Otaify, Ghada A.;
    • Mehrez, Mennat;
    • Valencia, María;
    • Vázquez, Laura;
    • Alessandri, Jean-Luc;
    • Nevado, Julián;
    • Rueda-Arenas, Inmaculada;
    • Heath, Karen E.;
    • Digilio, Maria Cristina;
    • Dallapiccola, Bruno;
    • Goodship, Judith A.;
    • Mill, Pleasantine;
    • Lapunzina, Pablo;
    • Ruiz-Perez, Victor L.
    Publication type:
    Article
    4
    5
    6
    7

    Mutation in NDUFA13/GRIM19 leads to early onset hypotonia, dyskinesia and sensorial deficiencies, and mitochondrial complex I instability.

    Published in:
    Human Molecular Genetics, 2015, v. 24, n. 14, p. 3948, doi. 10.1093/hmg/ddv133
    By:
    • Angebault, Claire;
    • Charif, Majida;
    • Guegen, Naig;
    • Piro-Megy, Camille;
    • de Camaret, Benedicte Mousson;
    • Procaccio, Vincent;
    • Guichet, Pierre-Olivier;
    • Hebrard, Maxime;
    • Manes, Gael;
    • Leboucq, Nicolas;
    • Rivier, François;
    • Hamel, Christian P.;
    • Lenaers, Guy;
    • Roubertie, Agathe
    Publication type:
    Article
    8
    9

    Astrocytes influence the severity of spinal muscular atrophy.

    Published in:
    Human Molecular Genetics, 2015, v. 24, n. 14, p. 4094, doi. 10.1093/hmg/ddv148
    By:
    • Rindt, Hansjörg;
    • Zhihua Feng;
    • Mazzasette, Chiara;
    • Glascock, Jacqueline J.;
    • Valdivia, David;
    • Pyles, Noah;
    • Crawford, Thomas O.;
    • Swoboda, Kathryn J.;
    • Patitucci, Teresa N.;
    • Ebert, Allison D.;
    • Sumner, Charlotte J.;
    • Ko, Chien-Ping;
    • Lorson, Christian L.
    Publication type:
    Article
    10
    11
    12
    13
    14
    15
    16

    Two knockdown models of the autism genes SYNGAP1 and SHANK3 in zebrafish produce similar behavioral phenotypes associated with embryonic disruptions of brain morphogenesis.

    Published in:
    Human Molecular Genetics, 2015, v. 24, n. 14, p. 4006, doi. 10.1093/hmg/ddv138
    By:
    • Kozol, Robert A.;
    • Cukier, Holly N.;
    • Bing Zou;
    • Mayo, Vera;
    • De Rubeis, Silvia;
    • Cai, Guiqing;
    • Griswold, Anthony J.;
    • Whitehead, Patrice L.;
    • Haines, Jonathan L.;
    • Gilbert, John R.;
    • Cuccaro, Michael L.;
    • Martin, Eden R.;
    • Baker, James D.;
    • Buxbaum, Joseph D.;
    • Pericak-Vance, Margaret A.;
    • Dallman, Julia E.
    Publication type:
    Article
    17
    18
    19
    20
    21

    CORRIGENDUM.

    Published in:
    Human Molecular Genetics, 2015, v. 24, n. 14, p. 4183, doi. 10.1093/hmg/ddv164
    Publication type:
    Article
    22
    23
    24

    Novel Jbts17 mutant mouse model of Joubert syndrome with cilia transition zone defects and cerebellar and other ciliopathy related anomalies.

    Published in:
    Human Molecular Genetics, 2015, v. 24, n. 14, p. 3994, doi. 10.1093/hmg/ddv137
    By:
    • Damerla, Rama Rao;
    • Cheng Cui;
    • Gabriel, George C.;
    • Xiaoqin Liu;
    • Craige, Branch;
    • Gibbs, Brian C.;
    • Francis, Richard;
    • You Li;
    • Chatterjee, Bishwanath;
    • Agustin, Jovenal T. San;
    • Eguether, Thibaut;
    • Subramanian, Ramiah;
    • Witman, George B.;
    • Michaud, Jacques L.;
    • Pazour, Gregory J.;
    • Lo, Cecilia W.
    Publication type:
    Article
    25