Works in Human Molecular Genetics, 2015, Vol 24, Issue 19

Results: 25
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    Retinitis pigmentosa: impact of different Pde6a point mutations on the disease phenotype.

    Published in:
    Human Molecular Genetics, 2015, v. 24, n. 19, p. 5486, doi. 10.1093/hmg/ddv275
    By:
    • Sothilingam, Vithiyanjali;
    • Garrido, Marina Garcia;
    • Jiao, Kangwei;
    • Buena-Atienza, Elena;
    • Sahaboglu, Ayse;
    • Trifunovič2, Dragana;
    • Balendran, Sukirthini;
    • Koepfli, Tanja;
    • Mühlfriedel, Regine;
    • Schön, Christian;
    • Biel, Martin;
    • Heckmann, Angelique;
    • Beck, Susanne C.;
    • Michalakis, Stylianos;
    • Wissinger, Bernd;
    • Seeliger, Mathias W.;
    • Paquet-Durand, François
    Publication type:
    Article
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    Homozygous loss-of-function variants in European cosmopolitan and isolate populations.

    Published in:
    Human Molecular Genetics, 2015, v. 24, n. 19, p. 5464, doi. 10.1093/hmg/ddv272
    By:
    • Kaiser, Vera B.;
    • Svinti, Victoria;
    • Prendergast, James G.;
    • You-Ying Chau;
    • Campbell, Archie;
    • Patarcic, Inga;
    • Barroso, Inês;
    • Joshi, Peter K.;
    • Hastie, Nicholas D.;
    • Miljkovic, Ana;
    • Taylor, Martin S.;
    • Scotland, Generation;
    • Enroth, Stefan;
    • Memari, Yasin;
    • Kolb-Kokocinski, Anja;
    • Wright, Alan F.;
    • Gyllensten, Ulf;
    • Durbin, Richard;
    • Rudan, Igor;
    • Campbell, Harry
    Publication type:
    Article
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    A functional variant that affects exon-skipping and protein expression of SP140 as genetic mechanism predisposing to multiple sclerosis.

    Published in:
    Human Molecular Genetics, 2015, v. 24, n. 19, p. 5619, doi. 10.1093/hmg/ddv256
    By:
    • Matesanz, Fuencisla;
    • Potenciano, Victor;
    • Fedetz, Maria;
    • Ramos-Mozo, Priscila;
    • Abad-Grau, María del Mar;
    • Karaky, Mohamad;
    • Barrionuevo, Cristina;
    • Izquierdo, Guillermo;
    • Ruiz-Peña, Juan Luis;
    • García-Sánchez, María Isabel;
    • Lucas, Miguel;
    • Fernández, Óscar;
    • Leyva, Laura;
    • Otaegui, David;
    • Muñoz-Culla, Maider;
    • Olascoaga, Javier;
    • Vandenbroeck, Koen;
    • Alloza, Iraide;
    • Astobiza, Ianire;
    • Antigüedad, Alfredo
    Publication type:
    Article
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    A rare P2X7 variant Arg307Gln with absent pore formation function protects against neuroinflammation in multiple sclerosis.

    Published in:
    Human Molecular Genetics, 2015, v. 24, n. 19, p. 5644, doi. 10.1093/hmg/ddv278
    By:
    • Ben J. Gu;
    • Field, Judith;
    • Dutertre, Sébastien;
    • Ou, Amber;
    • Kilpatrick, Trevor J.;
    • Lechner-Scott, Jeannette;
    • Scott, Rodney;
    • Lea, Rodney;
    • Taylor, Bruce V.;
    • Stankovich, Jim;
    • Butzkueven, Helmut;
    • Gresle, Melissa;
    • Laws, Simon M.;
    • Petrou, Steven;
    • Hoffjan, Sabine;
    • Akkad, Denis A.;
    • Graham, Colin A.;
    • Hawkins, Stanley;
    • Glaser, Anna;
    • Bedri, Sahl Khalid
    Publication type:
    Article
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    Integration of multiethnic fine-mapping and genomic annotation to prioritize candidate functional SNPs at prostate cancer susceptibility regions.

    Published in:
    Human Molecular Genetics, 2015, v. 24, n. 19, p. 5603, doi. 10.1093/hmg/ddv269
    By:
    • Ying Han;
    • Hazelett, Dennis J.;
    • Wiklund, Fredrik;
    • Schumacher, Fredrick R.;
    • Stram, Daniel O.;
    • Berndt, Sonja I.;
    • Zhaoming Wang;
    • Rand, Kristin A.;
    • Hoover, Robert N.;
    • Machiela, Mitchell J.;
    • Yeager, Merideth;
    • Burdette, Laurie;
    • Chung, Charles C.;
    • Hutchinson, Amy;
    • Yu, Kai;
    • Jianfeng Xu;
    • Travis, Ruth C.;
    • Key, Timothy J.;
    • Siddiq, Afshan;
    • Canzian, Federico
    Publication type:
    Article
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    Multiple novel prostate cancer susceptibility signals identified by fine-mapping of known risk loci among Europeans.

    Published in:
    Human Molecular Genetics, 2015, v. 24, n. 19, p. 5589, doi. 10.1093/hmg/ddv203
    By:
    • Al Olama, Ali Amin;
    • Dadaev, Tokhir;
    • Hazelett, Dennis J.;
    • Qiuyan Li;
    • Leongamornlert, Daniel;
    • Saunders, Edward J.;
    • Stephens, Sarah;
    • Cieza-Borrella, Clara;
    • Whitmore, Ian;
    • Garcia, Sara Benlloch;
    • Giles, Graham G.;
    • Southey, Melissa C.;
    • Fitzgerald, Liesel;
    • Gronberg, Henrik;
    • Wiklund, Fredrik;
    • Aly, Markus;
    • Henderson, Brian E.;
    • Schumacher, Fredrick;
    • Haiman, Christopher A.;
    • Schleutker, Johanna
    Publication type:
    Article
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    Genome-wide association analysis on normal hearing function identifies PCDH20 and SLC28A3 as candidates for hearing function and loss.

    Published in:
    Human Molecular Genetics, 2015, v. 24, n. 19, p. 5655, doi. 10.1093/hmg/ddv279
    By:
    • Vuckovic, Dragana;
    • Dawson, Sally;
    • Scheffer, Deborah I.;
    • Rantanen, Taina;
    • Morgan, Anna;
    • Di Stazio, Mariateresa;
    • Vozzi, Diego;
    • Nutile, Teresa;
    • Concas, Maria P.;
    • Biino, Ginevra;
    • Nolan, Lisa;
    • Bahl, Aileen;
    • Loukola, Anu;
    • Viljanen, Anne;
    • Davis, Adrian;
    • Ciullo, Marina;
    • Corey, David P.;
    • Pirastu, Mario;
    • Gasparini, Paolo;
    • Girotto, Giorgia
    Publication type:
    Article
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