Found: 29

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  • Variation in germline mtDNA heteroplasmy is determined prenatally but modified during subsequent transmission.

    Published in:
    Nature Genetics, 2012, v. 44, n. 11, p. 1282, doi. 10.1038/ng.2427
    By:
    • Freyer, Christoph;
    • Cree, Lynsey M;
    • Mourier, Arnaud;
    • Stewart, James B;
    • Koolmeister, Camilla;
    • Milenkovic, Dusanka;
    • Wai, Timothy;
    • Floros, Vasileios I;
    • Hagström, Erik;
    • Chatzidaki, Emmanouella E;
    • Wiesner, Rudolf J;
    • Samuels, David C;
    • Larsson, Nils-Göran;
    • Chinnery, Patrick F
    Publication type:
    Article

  • Missense mutations in the sodium-gated potassium channel gene KCNT1 cause severe autosomal dominant nocturnal frontal lobe epilepsy.

    Published in:
    Nature Genetics, 2012, v. 44, n. 11, p. 1188, doi. 10.1038/ng.2440
    By:
    • Heron, Sarah E;
    • Smith, Katherine R;
    • Bahlo, Melanie;
    • Nobili, Lino;
    • Kahana, Esther;
    • Licchetta, Laura;
    • Oliver, Karen L;
    • Mazarib, Aziz;
    • Afawi, Zaid;
    • Korczyn, Amos;
    • Plazzi, Giuseppe;
    • Petrou, Steven;
    • Berkovic, Samuel F;
    • Scheffer, Ingrid E;
    • Dibbens, Leanne M
    Publication type:
    Article

  • Genome-wide association study identifies eight new susceptibility loci for atopic dermatitis in the Japanese population.

    Published in:
    Nature Genetics, 2012, v. 44, n. 11, p. 1222, doi. 10.1038/ng.2438
    By:
    • Hirota, Tomomitsu;
    • Takahashi, Atsushi;
    • Kubo, Michiaki;
    • Tsunoda, Tatsuhiko;
    • Tomita, Kaori;
    • Sakashita, Masafumi;
    • Yamada, Takechiyo;
    • Fujieda, Shigeharu;
    • Tanaka, Shota;
    • Doi, Satoru;
    • Miyatake, Akihiko;
    • Enomoto, Tadao;
    • Nishiyama, Chiharu;
    • Nakano, Nobuhiro;
    • Maeda, Keiko;
    • Okumura, Ko;
    • Ogawa, Hideoki;
    • Ikeda, Shigaku;
    • Noguchi, Emiko;
    • Sakamoto, Tohru
    Publication type:
    Article

  • FOXA1 and breast cancer risk.

    Published in:
    Nature Genetics, 2012, v. 44, n. 11, p. 1176, doi. 10.1038/ng.2449
    By:
    • Meyer, Kerstin B;
    • Carroll, Jason S
    Publication type:
    Article

  • Older males beget more mutations.

    Published in:
    Nature Genetics, 2012, v. 44, n. 11, p. 1174, doi. 10.1038/ng.2448
    By:
    • Hurles, Matthew
    Publication type:
    Article

  • Genome-wide association study in Chinese men identifies two new prostate cancer risk loci at 9q31.2 and 19q13.4.

    Published in:
    Nature Genetics, 2012, v. 44, n. 11, p. 1231, doi. 10.1038/ng.2424
    By:
    • Xu, Jianfeng;
    • Mo, Zengnan;
    • Ye, Dingwei;
    • Wang, Meilin;
    • Liu, Fang;
    • Jin, Guangfu;
    • Xu, Chuanliang;
    • Wang, Xiang;
    • Shao, Qiang;
    • Chen, Zhiwen;
    • Tao, Zhihua;
    • Qi, Jun;
    • Zhou, Fangjian;
    • Wang, Zhong;
    • Fu, Yaowen;
    • He, Dalin;
    • Wei, Qiang;
    • Guo, Jianming;
    • Wu, Denglong;
    • Gao, Xin
    Publication type:
    Article

  • Admixed genomes.

    Published in:
    Nature Genetics, 2012, v. 44, n. 11, p. 1178, doi. 10.1038/ng.2461
    By:
    • Bahcall, Orli
    Publication type:
    Article

  • Genome-wide association study identifies a common variant in RAD51B associated with male breast cancer risk.

    Published in:
    Nature Genetics, 2012, v. 44, n. 11, p. 1182, doi. 10.1038/ng.2417
    By:
    • Orr, Nick;
    • Lemnrau, Alina;
    • Cooke, Rosie;
    • Fletcher, Olivia;
    • Tomczyk, Katarzyna;
    • Jones, Michael;
    • Johnson, Nichola;
    • Lord, Christopher J;
    • Mitsopoulos, Costas;
    • Zvelebil, Marketa;
    • McDade, Simon S;
    • Buck, Gemma;
    • Blancher, Christine;
    • Trainer, Alison H;
    • James, Paul A;
    • Bojesen, Stig E;
    • Bokmand, Susanne;
    • Nevanlinna, Heli;
    • Mattson, Johanna;
    • Friedman, Eitan
    Publication type:
    Article

  • A common single-nucleotide variant in T is strongly associated with chordoma.

    Published in:
    Nature Genetics, 2012, v. 44, n. 11, p. 1185, doi. 10.1038/ng.2419
    By:
    • Pillay, Nischalan;
    • Plagnol, Vincent;
    • Tarpey, Patrick S;
    • Lobo, Samira B;
    • Presneau, Nadège;
    • Szuhai, Karoly;
    • Halai, Dina;
    • Berisha, Fitim;
    • Cannon, Stephen R;
    • Mead, Simon;
    • Kasperaviciute, Dalia;
    • Palmen, Jutta;
    • Talmud, Philippa J;
    • Kindblom, Lars-Gunnar;
    • Amary, M Fernanda;
    • Tirabosco, Roberto;
    • Flanagan, Adrienne M
    Publication type:
    Article

  • Haploinsufficiency for AAGAB causes clinically heterogeneous forms of punctate palmoplantar keratoderma.

    Published in:
    Nature Genetics, 2012, v. 44, n. 11, p. 1272, doi. 10.1038/ng.2444
    By:
    • Pohler, Elizabeth;
    • Mamai, Ons;
    • Hirst, Jennifer;
    • Zamiri, Mozheh;
    • Horn, Helen;
    • Nomura, Toshifumi;
    • Irvine, Alan D;
    • Moran, Benvon;
    • Wilson, Neil J;
    • Smith, Frances J D;
    • Goh, Christabelle S M;
    • Sandilands, Aileen;
    • Cole, Christian;
    • Barton, Geoffrey J;
    • Evans, Alan T;
    • Shimizu, Hiroshi;
    • Akiyama, Masashi;
    • Suehiro, Mitsuhiro;
    • Konohana, Izumi;
    • Shboul, Mohammad
    Publication type:
    Article

  • Epigenetic polymorphism and the stochastic formation of differentially methylated regions in normal and cancerous tissues.

    Published in:
    Nature Genetics, 2012, v. 44, n. 11, p. 1207, doi. 10.1038/ng.2442
    By:
    • Landan, Gilad;
    • Cohen, Netta Mendelson;
    • Mukamel, Zohar;
    • Bar, Amir;
    • Molchadsky, Alina;
    • Brosh, Ran;
    • Horn-Saban, Shirley;
    • Zalcenstein, Daniela Amann;
    • Goldfinger, Naomi;
    • Zundelevich, Adi;
    • Gal-Yam, Einav Nili;
    • Rotter, Varda;
    • Tanay, Amos
    Publication type:
    Article

  • Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature.

    Published in:
    Nature Genetics, 2012, v. 44, n. 11, p. 1243, doi. 10.1038/ng.2414
    By:
    • Rice, Gillian I;
    • Kasher, Paul R;
    • Forte, Gabriella M A;
    • Mannion, Niamh M;
    • Greenwood, Sam M;
    • Szynkiewicz, Marcin;
    • Dickerson, Jonathan E;
    • Bhaskar, Sanjeev S;
    • Zampini, Massimiliano;
    • Briggs, Tracy A;
    • Jenkinson, Emma M;
    • Bacino, Carlos A;
    • Battini, Roberta;
    • Bertini, Enrico;
    • Brogan, Paul A;
    • Brueton, Louise A;
    • Carpanelli, Marialuisa;
    • De Laet, Corinne;
    • de Lonlay, Pascale;
    • del Toro, Mireia
    Publication type:
    Article

  • LIN28B induces neuroblastoma and enhances MYCN levels via let-7 suppression.

    Published in:
    Nature Genetics, 2012, v. 44, n. 11, p. 1199, doi. 10.1038/ng.2436
    By:
    • Molenaar, Jan J;
    • Domingo-Fernández, Raquel;
    • Ebus, Marli E;
    • Lindner, Sven;
    • Koster, Jan;
    • Drabek, Ksenija;
    • Mestdagh, Pieter;
    • van Sluis, Peter;
    • Valentijn, Linda J;
    • van Nes, Johan;
    • Broekmans, Marloes;
    • Haneveld, Franciska;
    • Volckmann, Richard;
    • Bray, Isabella;
    • Heukamp, Lukas;
    • Sprüssel, Annika;
    • Thor, Theresa;
    • Kieckbusch, Kristina;
    • Klein-Hitpass, Ludger;
    • Fischer, Matthias
    Publication type:
    Article

  • Breast cancer risk-associated SNPs modulate the affinity of chromatin for FOXA1 and alter gene expression.

    Published in:
    Nature Genetics, 2012, v. 44, n. 11, p. 1191, doi. 10.1038/ng.2416
    By:
    • Cowper-Sal·lari, Richard;
    • Zhang, Xiaoyang;
    • Wright, Jason B;
    • Bailey, Swneke D;
    • Cole, Michael D;
    • Eeckhoute, Jerome;
    • Moore, Jason H;
    • Lupien, Mathieu
    Publication type:
    Article

  • Credit for clinical trial data.

    Published in:
    Nature Genetics, 2012, v. 44, n. 11, p. 1171, doi. 10.1038/ng.2464
    Publication type:
    Article

  • Heterogeneity in genomic disorders.

    Published in:
    Nature Genetics, 2012, v. 44, n. 11, p. 1178, doi. 10.1038/ng.2457
    By:
    • Feliciano, Pamela
    Publication type:
    Article

  • Epigenomic analysis detects widespread gene-body DNA hypomethylation in chronic lymphocytic leukemia.

    Published in:
    Nature Genetics, 2012, v. 44, n. 11, p. 1236, doi. 10.1038/ng.2443
    By:
    • Kulis, Marta;
    • Heath, Simon;
    • Bibikova, Marina;
    • Queirós, Ana C;
    • Navarro, Alba;
    • Clot, Guillem;
    • Martínez-Trillos, Alejandra;
    • Castellano, Giancarlo;
    • Brun-Heath, Isabelle;
    • Pinyol, Magda;
    • Barberán-Soler, Sergio;
    • Papasaikas, Panagiotis;
    • Jares, Pedro;
    • Beà, Sílvia;
    • Rico, Daniel;
    • Ecker, Simone;
    • Rubio, Miriam;
    • Royo, Romina;
    • Ho, Vincent;
    • Klotzle, Brandy
    Publication type:
    Article

  • Intracontinental spread of human invasive Salmonella Typhimurium pathovariants in sub-Saharan Africa.

    Published in:
    Nature Genetics, 2012, v. 44, n. 11, p. 1215, doi. 10.1038/ng.2423
    By:
    • Okoro, Chinyere K;
    • Kingsley, Robert A;
    • Connor, Thomas R;
    • Harris, Simon R;
    • Parry, Christopher M;
    • Al-Mashhadani, Manar N;
    • Kariuki, Samuel;
    • Msefula, Chisomo L;
    • Gordon, Melita A;
    • de Pinna, Elizabeth;
    • Wain, John;
    • Heyderman, Robert S;
    • Obaro, Stephen;
    • Alonso, Pedro L;
    • Mandomando, Inacio;
    • MacLennan, Calman A;
    • Tapia, Milagritos D;
    • Levine, Myron M;
    • Tennant, Sharon M;
    • Parkhill, Julian
    Publication type:
    Article

  • Sensing flow at the node.

    Published in:
    Nature Genetics, 2012, v. 44, n. 11, p. 1178, doi. 10.1038/ng.2460
    By:
    • Vogan, Kyle
    Publication type:
    Article

  • Rare-variant association methods.

    Published in:
    Nature Genetics, 2012, v. 44, n. 11, p. 1178, doi. 10.1038/ng.2458
    By:
    • Bahcall, Orli
    Publication type:
    Article

  • Recurrent somatic TET2 mutations in normal elderly individuals with clonal hematopoiesis.

    Published in:
    Nature Genetics, 2012, v. 44, n. 11, p. 1179, doi. 10.1038/ng.2413
    By:
    • Busque, Lambert;
    • Patel, Jay P;
    • Figueroa, Maria E;
    • Vasanthakumar, Aparna;
    • Provost, Sylvie;
    • Hamilou, Zineb;
    • Mollica, Luigina;
    • Li, Juan;
    • Viale, Agnes;
    • Heguy, Adriana;
    • Hassimi, Maryam;
    • Socci, Nicholas;
    • Bhatt, Parva K;
    • Gonen, Mithat;
    • Mason, Christopher E;
    • Melnick, Ari;
    • Godley, Lucy A;
    • Brennan, Cameron W;
    • Abdel-Wahab, Omar;
    • Levine, Ross L
    Publication type:
    Article

  • Potential Parkinson disease and ALS drug.

    Published in:
    Nature Genetics, 2012, v. 44, n. 11, p. 1178, doi. 10.1038/ng.2459
    By:
    • Feliciano, Pamela
    Publication type:
    Article

  • Alterations of the CIB2 calcium- and integrin-binding protein cause Usher syndrome type 1J and nonsyndromic deafness DFNB48.

    Published in:
    Nature Genetics, 2012, v. 44, n. 11, p. 1265, doi. 10.1038/ng.2426
    By:
    • Riazuddin, Saima;
    • Belyantseva, Inna A;
    • Giese, Arnaud P J;
    • Lee, Kwanghyuk;
    • Indzhykulian, Artur A;
    • Nandamuri, Sri Pratima;
    • Yousaf, Rizwan;
    • Sinha, Ghanshyam P;
    • Lee, Sue;
    • Terrell, David;
    • Hegde, Rashmi S;
    • Ali, Rana A;
    • Anwar, Saima;
    • Andrade-Elizondo, Paula B;
    • Sirmaci, Asli;
    • Parise, Leslie V;
    • Basit, Sulman;
    • Wali, Abdul;
    • Ayub, Muhammad;
    • Ansar, Muhammad
    Publication type:
    Article

  • CHMP1A encodes an essential regulator of BMI1-INK4A in cerebellar development.

    Published in:
    Nature Genetics, 2012, v. 44, n. 11, p. 1260, doi. 10.1038/ng.2425
    By:
    • Mochida, Ganeshwaran H;
    • Ganesh, Vijay S;
    • de Michelena, Maria I;
    • Dias, Hugo;
    • Atabay, Kutay D;
    • Kathrein, Katie L;
    • Huang, Hsuan-Ting;
    • Hill, R Sean;
    • Felie, Jillian M;
    • Rakiec, Daniel;
    • Gleason, Danielle;
    • Hill, Anthony D;
    • Malik, Athar N;
    • Barry, Brenda J;
    • Partlow, Jennifer N;
    • Tan, Wen-Hann;
    • Glader, Laurie J;
    • Barkovich, A James;
    • Dobyns, William B;
    • Zon, Leonard I
    Publication type:
    Article

  • CSK regulatory polymorphism is associated with systemic lupus erythematosus and influences B-cell signaling and activation.

    Published in:
    Nature Genetics, 2012, v. 44, n. 11, p. 1227, doi. 10.1038/ng.2439
    By:
    • Manjarrez-Orduño, Nataly;
    • Marasco, Emiliano;
    • Chung, Sharon A;
    • Katz, Matthew S;
    • Kiridly, Jenna F;
    • Simpfendorfer, Kim R;
    • Freudenberg, Jan;
    • Ballard, David H;
    • Nashi, Emil;
    • Hopkins, Thomas J;
    • Cunninghame Graham, Deborah S;
    • Lee, Annette T;
    • Coenen, Marieke J H;
    • Franke, Barbara;
    • Swinkels, Dorine W;
    • Graham, Robert R;
    • Kimberly, Robert P;
    • Gaffney, Patrick M;
    • Vyse, Timothy J;
    • Behrens, Timothy W
    Publication type:
    Article

  • Mutations in the TGF-? repressor SKI cause Shprintzen-Goldberg syndrome with aortic aneurysm.

    Published in:
    Nature Genetics, 2012, v. 44, n. 11, p. 1249, doi. 10.1038/ng.2421
    By:
    • Doyle, Alexander J;
    • Doyle, Jefferson J;
    • Bessling, Seneca L;
    • Maragh, Samantha;
    • Lindsay, Mark E;
    • Schepers, Dorien;
    • Gillis, Elisabeth;
    • Mortier, Geert;
    • Homfray, Tessa;
    • Sauls, Kimberly;
    • Norris, Russell A;
    • Huso, Nicholas D;
    • Leahy, Dan;
    • Mohr, David W;
    • Caulfield, Mark J;
    • Scott, Alan F;
    • Destrée, Anne;
    • Hennekam, Raoul C;
    • Arn, Pamela H;
    • Curry, Cynthia J
    Publication type:
    Article

  • De novo gain-of-function KCNT1 channel mutations cause malignant migrating partial seizures of infancy.

    Published in:
    Nature Genetics, 2012, v. 44, n. 11, p. 1255, doi. 10.1038/ng.2441
    By:
    • Barcia, Giulia;
    • Fleming, Matthew R;
    • Deligniere, Aline;
    • Gazula, Valeswara-Rao;
    • Brown, Maile R;
    • Langouet, Maeva;
    • Chen, Haijun;
    • Kronengold, Jack;
    • Abhyankar, Avinash;
    • Cilio, Roberta;
    • Nitschke, Patrick;
    • Kaminska, Anna;
    • Boddaert, Nathalie;
    • Casanova, Jean-Laurent;
    • Desguerre, Isabelle;
    • Munnich, Arnold;
    • Dulac, Olivier;
    • Kaczmarek, Leonard K;
    • Colleaux, Laurence;
    • Nabbout, Rima
    Publication type:
    Article

  • Estimating the human mutation rate using autozygosity in a founder population.

    Published in:
    Nature Genetics, 2012, v. 44, n. 11, p. 1277, doi. 10.1038/ng.2418
    By:
    • Campbell, Catarina D;
    • Chong, Jessica X;
    • Malig, Maika;
    • Ko, Arthur;
    • Dumont, Beth L;
    • Han, Lide;
    • Vives, Laura;
    • O'Roak, Brian J;
    • Sudmant, Peter H;
    • Shendure, Jay;
    • Abney, Mark;
    • Ober, Carole;
    • Eichler, Evan E
    Publication type:
    Article

  • Tracking the evolution of cancer methylomes.

    Published in:
    Nature Genetics, 2012, v. 44, n. 11, p. 1173, doi. 10.1038/ng.2451
    By:
    • Krebs, Arnaud R;
    • Schübeler, Dirk
    Publication type:
    Article