Works matching IS 09646906 AND DT 2016 AND VI 25 AND IP 19

Results: 17
    1

    Transcriptome-wide effects of a POLR3A gene mutation in patients with an unusual phenotype of striatal involvement.

    Published in:
    Human Molecular Genetics, 2016, v. 25, n. 19, p. 4302, doi. 10.1093/hmg/ddw263
    By:
    • Azmanov, Dimitar N.;
    • Siira, Stefan J.;
    • Chamova, Teodora;
    • Kaprelyan, Ara;
    • Guergueltcheva, Velina;
    • Shearwood, Anne-Marie J.;
    • Liu, Ganqiang;
    • Morar, Bharti;
    • Rackham, Oliver;
    • Bynevelt, Michael;
    • Grudkova, Margarita;
    • Kamenov, Zdravko;
    • Svechtarov, Vassil;
    • Tournev, Ivailo;
    • Kalaydjieva, Luba;
    • Filipovska, Aleksandra
    Publication type:
    Article
    2

    Fine-mapping, novel loci identification, and SNP association transferability in a genome-wide association study of QRS duration in African Americans.

    Published in:
    Human Molecular Genetics, 2016, v. 25, n. 19, p. 4350, doi. 10.1093/hmg/ddw284
    By:
    • Evans, Daniel S.;
    • Avery, Christy L.;
    • Nalls, Mike A.;
    • Guo Li;
    • Barnard, John;
    • Smith, Erin N.;
    • Toshiko Tanaka;
    • Butler, Anne M.;
    • Buxbaum, Sarah G.;
    • Alonso, Alvaro;
    • Arking, Dan E.;
    • Berenson, Gerald S.;
    • Bis, Joshua C.;
    • Buyske, Steven;
    • Carty, Cara L.;
    • Wei Chen;
    • Chung, Mina K.;
    • Cummings, Steven R.;
    • Deo, Rajat;
    • Eaton, Charles B.
    Publication type:
    Article
    3
    4

    Overlap of abnormal photoreceptor development and progressive degeneration in Leber congenital amaurosis caused by NPHP5 mutation.

    Published in:
    Human Molecular Genetics, 2016, v. 25, n. 19, p. 4211, doi. 10.1093/hmg/ddw254
    By:
    • Downs, Louise M.;
    • Scott, Erin M.;
    • Cideciyan, Artur V.;
    • Iwabe, Simone;
    • Dufour, Valerie;
    • Gardiner, Kristin L.;
    • Genini, Sem;
    • Marinho, Luis Felipe;
    • Sumaroka, Alexander;
    • Kosyk, Mychajlo S.;
    • Swider, Malgorzata;
    • Aguirre, Geoffrey K.;
    • Jacobson, Samuel G.;
    • Beltran, William A.;
    • Aguirre, Gustavo D.
    Publication type:
    Article
    5

    Collapsed methylation quantitative trait loci analysis for low frequency and rare variants.

    Published in:
    Human Molecular Genetics, 2016, v. 25, n. 19, p. 4339, doi. 10.1093/hmg/ddw283
    By:
    • Richardson, Tom G.;
    • Shihab, Hashem A.;
    • Hemani, Gibran;
    • Zheng, Jie;
    • Hannon, Eilis;
    • Mill, Jonathan;
    • Carnero-Montoro, Elena;
    • Bell, Jordana T.;
    • Lyttleton, Oliver;
    • McArdle, Wendy L.;
    • Ring, Susan M.;
    • Rodriguez, Santiago;
    • Campbell, Colin;
    • Smith, George Davey;
    • Relton, Caroline L.;
    • Timpson, Nicholas J.;
    • Gaunt, Tom R.
    Publication type:
    Article
    6

    Catenin delta-1 (CTNND1) phosphorylation controls the mesenchymal to epithelial transition in astrocytic tumors.

    Published in:
    Human Molecular Genetics, 2016, v. 25, n. 19, p. 4201, doi. 10.1093/hmg/ddw253
    By:
    • Yang, Jin;
    • Bassuk, Alexander G.;
    • Merl-Pham, Juliane;
    • Chun-Wei Hsu;
    • Colgan, Diana F.;
    • Xiaorong Li;
    • Kit Sing Au;
    • Lijuan Zhang;
    • Smemo, Scott;
    • Justus, Sally;
    • Yasunori Nagahama;
    • Grossbach, Andrew J.;
    • Howard III, Matthew A.;
    • Hiroto Kawasaki;
    • Feldstein, Neil A.;
    • Dobyns, William B.;
    • Northrup, Hope;
    • Hauck, Stefanie M.;
    • Ueffing, Marius;
    • Mahajan, Vinit B.
    Publication type:
    Article
    7
    8
    9

    Disrupted in schizophrenia 1 (DISC1) is a constituent of the mammalian mitochondrial contact site and cristae organizing system (MICOS) complex, and is essential for oxidative phosphorylation.

    Published in:
    Human Molecular Genetics, 2016, v. 25, n. 19, p. 4157, doi. 10.1093/hmg/ddw250
    By:
    • Piñero-Martos, Estefania;
    • Ortega-Vila, Bernardo;
    • Pol-Fuster, Josep;
    • Cisneros-Barroso, Eugenia;
    • Ruiz-Guerra, Laura;
    • Medina-Dols, Aina;
    • Heine-Suñer, Damian;
    • Llado, Jeronia;
    • Olmos, Gabriel;
    • Vives-Bauzà, Cristofol
    Publication type:
    Article
    10
    11
    12
    13

    The COQ2 genotype predicts the severity of coenzyme Q<sub>10</sub> deficiency.

    Published in:
    Human Molecular Genetics, 2016, v. 25, n. 19, p. 4256, doi. 10.1093/hmg/ddw257
    By:
    • Desbats, Maria Andrea;
    • Morbidoni, Valeria;
    • Silic-Benussi, Micol;
    • Doimo, Mara;
    • Ciminale, Vincenzo;
    • Cassina, Matteo;
    • Sacconi, Sabrina;
    • Hirano, Michio;
    • Basso, Giuseppe;
    • Pierrel, Fabien;
    • Navas, Placido;
    • Salviati, Leonardo;
    • Trevisson, Eva
    Publication type:
    Article
    14
    15
    16

    Neurodevelopmental alterations and seizures developed by mouse model of infantile hypophosphatasia are associated with purinergic signalling deregulation.

    Published in:
    Human Molecular Genetics, 2016, v. 25, n. 19, p. 4143, doi. 10.1093/hmg/ddw248
    By:
    • Sebastían-Serrano, Alvaro;
    • Engel, Tobias;
    • de Diego-García, Laura;
    • Olivos-Oré, Luis A.;
    • Arribas-Blázquez, Marina;
    • Martínez-Frailes, Carlos;
    • Perez-Díaz, Carmen;
    • Millan, José Luis;
    • Artalejo, Antonio R.;
    • Miras-Portugal, María Teresa;
    • Henshall, David C.;
    • Díaz-Hernandez, Miguel
    Publication type:
    Article
    17