Works matching IS 09646906 AND DT 2016 AND VI 25 AND IP 11

Results: 20
    1

    Variation at 2q35 (PNKD and TMBIM1) influences colorectal cancer risk and identifies a pleiotropic effect with inflammatory bowel disease.

    Published in:
    Human Molecular Genetics, 2016, v. 25, n. 11, p. 2349, doi. 10.1093/hmg/ddw087
    By:
    • Orlando, Giulia;
    • Law, Philip J.;
    • Palin, Kimmo;
    • Tuupanen, Sari;
    • Gylfe, Alexandra;
    • Hänninen, Ulrika;
    • Cajuso, Tatiana;
    • Tanskanen, Tomas;
    • Kondelin, Johanna;
    • Kaasinen, Eevi;
    • Sarin, Antti-Pekka;
    • Kaprio, Jaakko;
    • Eriksson, Johan G.;
    • Rissanen, Harri;
    • Knekt, Paul;
    • Pukkala, Eero;
    • Jousilahti, Pekka;
    • Salomaa, Veikko;
    • Ripatti, Samuli;
    • Palotie, Aarno
    Publication type:
    Article
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    Combined genetic and splicing analysis of BRCA1 c.[594-2A>C; 641A>G] highlights the relevance of naturally occurring in-frame transcripts for developing disease gene variant classification algorithms.

    Published in:
    Human Molecular Genetics, 2016, v. 25, n. 11, p. 2256, doi. 10.1093/hmg/ddw094
    By:
    • de la Hoya, Miguel;
    • Soukarieh, Omar;
    • López-Perolio, Irene;
    • Vega, Ana;
    • Walker, Logan C.;
    • van Ierland, Yvette;
    • Baralle, Diana;
    • Santamariña, Marta;
    • Lattimore, Vanessa;
    • Wijnen, Juul;
    • Whiley, Philip;
    • Blanco, Ana;
    • Raponi, Michela;
    • Hauke, Jan;
    • Wappenschmidt, Barbara;
    • Becker, Alexandra;
    • Hansen, Thomas V. O.;
    • Behar, Raquel;
    • Niederacher, Diether;
    • Arnold, Norbert
    Publication type:
    Article
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    A genome-wide association study of congenital cardiovascular left-sided lesions shows association with a locus on chromosome 20.

    Published in:
    Human Molecular Genetics, 2016, v. 25, n. 11, p. 2331, doi. 10.1093/hmg/ddw071
    By:
    • Hanchard, Neil A.;
    • Swaminathan, Shanker;
    • Bucasas, Kristine;
    • Furthner, Dieter;
    • Fernbach, Susan;
    • Azamian, Mahshid S.;
    • Xueqing Wang;
    • Lewin, Mark;
    • Towbin, Jeffrey A.;
    • D'Alessandro, Lisa C. A.;
    • Morris, Shaine A.;
    • Dreyer, William;
    • Denfield, Susan;
    • Ayres, Nancy A.;
    • Franklin, Wayne J.;
    • Justino, Henri;
    • Lantin-Hermoso, M. Regina;
    • Ocampo, Elena C.;
    • Santos, Alexia B.;
    • Parekh, Dhaval
    Publication type:
    Article
    8
    9

    Shorter telomere length in Europeans than in Africans due to polygenetic adaptation.

    Published in:
    Human Molecular Genetics, 2016, v. 25, n. 11, p. 2324, doi. 10.1093/hmg/ddw070
    By:
    • Hansen, Matthew E.B.;
    • Hunt, Steven C.;
    • Stone, Rivka C.;
    • Horvath, Kent;
    • Herbig, Utz;
    • Ranciaro, Alessia;
    • Hirbo, Jibril;
    • Beggs, William;
    • Reiner, Alexander P.;
    • Wilson, James G.;
    • Kimura, Masayuki;
    • De Vivo, Immaculata;
    • Chen, Maxine M.;
    • Kark, Jeremy D.;
    • Levy, Daniel;
    • Nyambo, Thomas;
    • Tishkoff, Sarah A.;
    • Aviv, Abraham
    Publication type:
    Article
    10

    Fasudil treatment in adult reverses behavioural changes and brain ventricular enlargement in Oligophrenin-1 mouse model of intellectual disability.

    Published in:
    Human Molecular Genetics, 2016, v. 25, n. 11, p. 2314, doi. 10.1093/hmg/ddw102
    By:
    • Meziane, Hamid;
    • Khelfaoui, Malik;
    • Morello, Noemi;
    • Hiba, Bassem;
    • Calcagno, Eleonora;
    • Reibel-Foisset, Sophie;
    • Selloum, Mohammed;
    • Chelly, Jamel;
    • Humeau, Yann;
    • Riet, Fabrice;
    • Zanni, Ginevra;
    • Herault, Yann;
    • Bienvenu, Thierry;
    • Giustetto, Maurizio;
    • Billuart, Pierre
    Publication type:
    Article
    11
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    Mutations in C8ORF37 cause Bardet Biedl syndrome (BBS21).

    Published in:
    Human Molecular Genetics, 2016, v. 25, n. 11, p. 2283, doi. 10.1093/hmg/ddw096
    By:
    • Heon, Elise;
    • Gunhee Kim;
    • Qin, Sophie;
    • Garrison, Janelle E.;
    • Tavares, Erika;
    • Vincent, Ajoy;
    • Nuangchamnong, Nina;
    • Scott, C. Anthony;
    • Slusarski, Diane C.;
    • Sheffield, Val C.
    Publication type:
    Article
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    Reduction of ciliary length through pharmacologic or genetic inhibition of CDK5 attenuates polycystic kidney disease in a model of nephronophthisis.

    Published in:
    Human Molecular Genetics, 2016, v. 25, n. 11, p. 2245, doi. 10.1093/hmg/ddw093
    By:
    • Husson, Hervé;
    • Moreno, Sarah;
    • Smith, Laurie A.;
    • Smith, Mandy M.;
    • Russo, Ryan J.;
    • Pitstick, Rose;
    • Sergeev, Mikhail;
    • Ledbetter, Steven R.;
    • Bukanov, Nikolay O.;
    • Lane, Monica;
    • Zhang, Kate;
    • Billot, Katy;
    • Carlson, George;
    • Shah, Jagesh;
    • Meijer, Laurent;
    • Beier, David R.;
    • Ibraghimov-Beskrovnaya, Oxana
    Publication type:
    Article
    17

    A mouse model of a human congenital disorder of glycosylation caused by loss of PMM2.

    Published in:
    Human Molecular Genetics, 2016, v. 25, n. 11, p. 2182, doi. 10.1093/hmg/ddw085
    By:
    • Chan, Barden;
    • Clasquin, Michelle;
    • Smolen, Gromoslaw A.;
    • Histen, Gavin;
    • Powe, Josh;
    • Yue Chen;
    • Zhizhong Lin;
    • Chenming Lu;
    • Yan Liu;
    • Yong Cang;
    • Zhonghua Yan;
    • Yuanfeng Xia;
    • Thompson, Ryan;
    • Singleton, Chris;
    • Dorsch, Marion;
    • Silverman, Lee;
    • Su, Shin-San Michael;
    • Freeze, Hudson H.;
    • Shengfang Jin
    Publication type:
    Article
    18

    Heterozygous KIDINS220/ARMS nonsense variants cause spastic paraplegia, intellectual disability, nystagmus, and obesity.

    Published in:
    Human Molecular Genetics, 2016, v. 25, n. 11, p. 2158, doi. 10.1093/hmg/ddw082
    By:
    • Josifova, Dragana J.;
    • Monroe, Glen R.;
    • Tessadori, Federico;
    • Graaff, Esther de;
    • van der Zwaag2, Bert;
    • Mehta, Sarju G.;
    • Harakalova, Magdalena;
    • Duran, Karen J.;
    • Savelberg, Sanne M.C.;
    • Nijman, Isaäc J.;
    • Jungbluth, Heinz;
    • Hoogenraad, Casper C.;
    • Bakkers, Jeroen;
    • Knoers, Nine V.;
    • Firth, Helen V.;
    • Beales, Philip L.;
    • Haaften, Gijs van;
    • van Haelst, Mieke M.
    Publication type:
    Article
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