Found: 30

Select item for more details and to access through your institution.

  • Identification of common variants associated with human hippocampal and intracranial volumes.

    Published in:
    Nature Genetics, 2012, v. 44, n. 5, p. 552, doi. 10.1038/ng.2250
    By:
    • Stein, Jason L;
    • Medland, Sarah E;
    • Vasquez, Alejandro Arias;
    • Hibar, Derrek P;
    • Senstad, Rudy E;
    • Winkler, Anderson M;
    • Toro, Roberto;
    • Appel, Katja;
    • Bartecek, Richard;
    • Bergmann, Ørjan;
    • Bernard, Manon;
    • Brown, Andrew A;
    • Cannon, Dara M;
    • Chakravarty, M Mallar;
    • Christoforou, Andrea;
    • Domin, Martin;
    • Grimm, Oliver;
    • Hollinshead, Marisa;
    • Holmes, Avram J;
    • Homuth, Georg
    Publication type:
    Article

  • Common variants at 6q22 and 17q21 are associated with intracranial volume.

    Published in:
    Nature Genetics, 2012, v. 44, n. 5, p. 539, doi. 10.1038/ng.2245
    By:
    • Ikram, M Arfan;
    • Fornage, Myriam;
    • Smith, Albert V;
    • Seshadri, Sudha;
    • Schmidt, Reinhold;
    • Debette, Stéphanie;
    • Vrooman, Henri A;
    • Sigurdsson, Sigurdur;
    • Ropele, Stefan;
    • Taal, H Rob;
    • Mook-Kanamori, Dennis O;
    • Coker, Laura H;
    • Longstreth, W T;
    • Niessen, Wiro J;
    • DeStefano, Anita L;
    • Beiser, Alexa;
    • Zijdenbos, Alex P;
    • Struchalin, Maksim;
    • Jack, Clifford R;
    • Rivadeneira, Fernando
    Publication type:
    Article

  • Photosensitivity syndrome brings to light a new transcription-coupled DNA repair cofactor.

    Published in:
    Nature Genetics, 2012, v. 44, n. 5, p. 477, doi. 10.1038/ng.2255
    By:
    • Cleaver, James E
    Publication type:
    Article

  • Mutations in UVSSA cause UV-sensitive syndrome and impair RNA polymerase IIo processing in transcription-coupled nucleotide-excision repair.

    Published in:
    Nature Genetics, 2012, v. 44, n. 5, p. 586, doi. 10.1038/ng.2229
    By:
    • Nakazawa, Yuka;
    • Sasaki, Kensaku;
    • Mitsutake, Norisato;
    • Matsuse, Michiko;
    • Shimada, Mayuko;
    • Nardo, Tiziana;
    • Takahashi, Yoshito;
    • Ohyama, Kaname;
    • Ito, Kosei;
    • Mishima, Hiroyuki;
    • Nomura, Masayo;
    • Kinoshita, Akira;
    • Ono, Shinji;
    • Takenaka, Katsuya;
    • Masuyama, Ritsuko;
    • Kudo, Takashi;
    • Slor, Hanoch;
    • Utani, Atsushi;
    • Tateishi, Satoshi;
    • Yamashita, Shunichi
    Publication type:
    Article

  • Germline RAD51C mutations confer susceptibility to ovarian cancer.

    Published in:
    Nature Genetics, 2012, v. 44, n. 5, p. 476, doi. 10.1038/ng.2223
    By:
    • Meindl, Alfons;
    • Eirich, Katharina;
    • Engert, Stefanie;
    • Becker, Alexandra;
    • Endt, Daniela;
    • Ditsch, Nina;
    • Schmutzler, Rita K;
    • Schindler, Detlev
    Publication type:
    Article

  • UV-sensitive syndrome protein UVSSA recruits USP7 to regulate transcription-coupled repair.

    Published in:
    Nature Genetics, 2012, v. 44, n. 5, p. 598, doi. 10.1038/ng.2230
    By:
    • Schwertman, Petra;
    • Lagarou, Anna;
    • Dekkers, Dick H W;
    • Raams, Anja;
    • van der Hoek, Adriana C;
    • Laffeber, Charlie;
    • Hoeijmakers, Jan H J;
    • Demmers, Jeroen A A;
    • Fousteri, Maria;
    • Vermeulen, Wim;
    • Marteijn, Jurgen A
    Publication type:
    Article

  • Common variants at 12q15 and 12q24 are associated with infant head circumference.

    Published in:
    Nature Genetics, 2012, v. 44, n. 5, p. 532, doi. 10.1038/ng.2238
    By:
    • Taal, H Rob;
    • St Pourcain, Beate;
    • Thiering, Elisabeth;
    • Das, Shikta;
    • Mook-Kanamori, Dennis O;
    • Warrington, Nicole M;
    • Kaakinen, Marika;
    • Kreiner-Møller, Eskil;
    • Bradfield, Jonathan P;
    • Freathy, Rachel M;
    • Geller, Frank;
    • Guxens, Mònica;
    • Cousminer, Diana L;
    • Kerkhof, Marjan;
    • Timpson, Nicholas J;
    • Ikram, M Arfan;
    • Beilin, Lawrence J;
    • Bønnelykke, Klaus;
    • Buxton, Jessica L;
    • Charoen, Pimphen
    Publication type:
    Article

  • Cell type-specific eQTLs in the human immune system.

    Published in:
    Nature Genetics, 2012, v. 44, n. 5, p. 478, doi. 10.1038/ng.2258
    By:
    • Gregersen, Peter K
    Publication type:
    Article

  • Bayesian inference analyses of the polygenic architecture of rheumatoid arthritis.

    Published in:
    Nature Genetics, 2012, v. 44, n. 5, p. 483, doi. 10.1038/ng.2232
    By:
    • Stahl, Eli A;
    • Wegmann, Daniel;
    • Trynka, Gosia;
    • Gutierrez-Achury, Javier;
    • Do, Ron;
    • Voight, Benjamin F;
    • Kraft, Peter;
    • Chen, Robert;
    • Kallberg, Henrik J;
    • Kurreeman, Fina A S;
    • Kathiresan, Sekar;
    • Wijmenga, Cisca;
    • Gregersen, Peter K;
    • Alfredsson, Lars;
    • Siminovitch, Katherine A;
    • Worthington, Jane;
    • de Bakker, Paul I W;
    • Raychaudhuri, Soumya;
    • Plenge, Robert M
    Publication type:
    Article

  • Two new susceptibility loci for Kawasaki disease identified through genome-wide association analysis.

    Published in:
    Nature Genetics, 2012, v. 44, n. 5, p. 522, doi. 10.1038/ng.2227
    By:
    • Lee, Yi-Ching;
    • Kuo, Ho-Chang;
    • Chang, Jeng-Sheng;
    • Chang, Luan-Yin;
    • Huang, Li-Min;
    • Chen, Ming-Ren;
    • Liang, Chi-Di;
    • Chi, Hsin;
    • Huang, Fu-Yuan;
    • Lee, Meng-Luen;
    • Huang, Yhu-Chering;
    • Hwang, Betau;
    • Chiu, Nan-Chang;
    • Hwang, Kao-Pin;
    • Lee, Pi-Chang;
    • Chang, Li-Ching;
    • Liu, Yi-Min;
    • Chen, Ying-Ju;
    • Chen, Chien-Hsiun;
    • Alliance, Taiwan Pediatric ID
    Publication type:
    Article

  • Familial diarrhea syndrome.

    Published in:
    Nature Genetics, 2012, v. 44, n. 5, p. 481, doi. 10.1038/ng.2266
    By:
    • Vogan, Kyle
    Publication type:
    Article

  • Straightforward recessive BBS.

    Published in:
    Nature Genetics, 2012, v. 44, n. 5, p. 481, doi. 10.1038/ng.2267
    By:
    • Axton, Myles
    Publication type:
    Article

  • ISPD loss-of-function mutations disrupt dystroglycan O-mannosylation and cause Walker-Warburg syndrome.

    Published in:
    Nature Genetics, 2012, v. 44, n. 5, p. 575, doi. 10.1038/ng.2252
    By:
    • Willer, Tobias;
    • Lee, Hane;
    • Lommel, Mark;
    • Yoshida-Moriguchi, Takako;
    • de Bernabe, Daniel Beltran Valero;
    • Venzke, David;
    • Cirak, Sebahattin;
    • Schachter, Harry;
    • Vajsar, Jiri;
    • Voit, Thomas;
    • Muntoni, Francesco;
    • Loder, Andrea S;
    • Dobyns, William B;
    • Winder, Thomas L;
    • Strahl, Sabine;
    • Mathews, Katherine D;
    • Nelson, Stanley F;
    • Moore, Steven A;
    • Campbell, Kevin P
    Publication type:
    Article

  • Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture.

    Published in:
    Nature Genetics, 2012, v. 44, n. 5, p. 491, doi. 10.1038/ng.2249
    By:
    • Estrada, Karol;
    • Styrkarsdottir, Unnur;
    • Evangelou, Evangelos;
    • Hsu, Yi-Hsiang;
    • Duncan, Emma L;
    • Ntzani, Evangelia E;
    • Oei, Ling;
    • Albagha, Omar M E;
    • Amin, Najaf;
    • Kemp, John P;
    • Koller, Daniel L;
    • Li, Guo;
    • Liu, Ching-Ti;
    • Minster, Ryan L;
    • Moayyeri, Alireza;
    • Vandenput, Liesbeth;
    • Willner, Dana;
    • Xiao, Su-Mei;
    • Yerges-Armstrong, Laura M;
    • Zheng, Hou-Feng
    Publication type:
    Article

  • Chimpanzee genetic map.

    Published in:
    Nature Genetics, 2012, v. 44, n. 5, p. 481, doi. 10.1038/ng.2269
    By:
    • Bahcall, Orli
    Publication type:
    Article

  • Testing times.

    Published in:
    Nature Genetics, 2012, v. 44, n. 5, p. 473, doi. 10.1038/ng.2264
    Publication type:
    Article

  • Bayesian method to predict individual SNP genotypes from gene expression data.

    Published in:
    Nature Genetics, 2012, v. 44, n. 5, p. 603, doi. 10.1038/ng.2248
    By:
    • Schadt, Eric E;
    • Woo, Sangsoon;
    • Hao, Ke
    Publication type:
    Article

  • Common variants at 12q14 and 12q24 are associated with hippocampal volume.

    Published in:
    Nature Genetics, 2012, v. 44, n. 5, p. 545, doi. 10.1038/ng.2237
    By:
    • Bis, Joshua C;
    • DeCarli, Charles;
    • Smith, Albert Vernon;
    • van der Lijn, Fedde;
    • Crivello, Fabrice;
    • Fornage, Myriam;
    • Debette, Stephanie;
    • Shulman, Joshua M;
    • Schmidt, Helena;
    • Srikanth, Velandai;
    • Schuur, Maaike;
    • Yu, Lei;
    • Choi, Seung-Hoan;
    • Sigurdsson, Sigurdur;
    • Verhaaren, Benjamin F J;
    • DeStefano, Anita L;
    • Lambert, Jean-Charles;
    • Jack, Clifford R;
    • Struchalin, Maksim;
    • Stankovich, Jim
    Publication type:
    Article

  • Mutations in UVSSA cause UV-sensitive syndrome and destabilize ERCC6 in transcription-coupled DNA repair.

    Published in:
    Nature Genetics, 2012, v. 44, n. 5, p. 593, doi. 10.1038/ng.2228
    By:
    • Zhang, Xue;
    • Horibata, Katsuyoshi;
    • Saijo, Masafumi;
    • Ishigami, Chie;
    • Ukai, Akiko;
    • Kanno, Shin-ichiro;
    • Tahara, Hidetoshi;
    • Neilan, Edward G;
    • Honma, Masamitsu;
    • Nohmi, Takehiko;
    • Yasui, Akira;
    • Tanaka, Kiyoji
    Publication type:
    Article

  • A genome-wide association study identifies three new risk loci for Kawasaki disease.

    Published in:
    Nature Genetics, 2012, v. 44, n. 5, p. 517, doi. 10.1038/ng.2220
    By:
    • Onouchi, Yoshihiro;
    • Ozaki, Kouichi;
    • Burns, Jane C;
    • Shimizu, Chisato;
    • Terai, Masaru;
    • Hamada, Hiromichi;
    • Honda, Takafumi;
    • Suzuki, Hiroyuki;
    • Suenaga, Tomohiro;
    • Takeuchi, Takashi;
    • Yoshikawa, Norishige;
    • Suzuki, Yoichi;
    • Yasukawa, Kumi;
    • Ebata, Ryota;
    • Higashi, Kouji;
    • Saji, Tsutomu;
    • Kemmotsu, Yasushi;
    • Takatsuki, Shinichi;
    • Ouchi, Kazunobu;
    • Kishi, Fumio
    Publication type:
    Article

  • A genome-wide association meta-analysis identifies new childhood obesity loci.

    Published in:
    Nature Genetics, 2012, v. 44, n. 5, p. 526, doi. 10.1038/ng.2247
    By:
    • Bradfield, Jonathan P;
    • Taal, H Rob;
    • Timpson, Nicholas J;
    • Scherag, André;
    • Lecoeur, Cecile;
    • Warrington, Nicole M;
    • Hypponen, Elina;
    • Holst, Claus;
    • Valcarcel, Beatriz;
    • Thiering, Elisabeth;
    • Salem, Rany M;
    • Schumacher, Fredrick R;
    • Cousminer, Diana L;
    • Sleiman, Patrick M A;
    • Zhao, Jianhua;
    • Berkowitz, Robert I;
    • Vimaleswaran, Karani S;
    • Jarick, Ivonne;
    • Pennell, Craig E;
    • Evans, David M
    Publication type:
    Article

  • Super-PTEN mice.

    Published in:
    Nature Genetics, 2012, v. 44, n. 5, p. 481, doi. 10.1038/ng.2265
    By:
    • Feliciano, Pamela
    Publication type:
    Article

  • Meta-analysis identifies nine new loci associated with rheumatoid arthritis in the Japanese population.

    Published in:
    Nature Genetics, 2012, v. 44, n. 5, p. 511, doi. 10.1038/ng.2231
    By:
    • Okada, Yukinori;
    • Terao, Chikashi;
    • Ikari, Katsunori;
    • Kochi, Yuta;
    • Ohmura, Koichiro;
    • Suzuki, Akari;
    • Kawaguchi, Takahisa;
    • Stahl, Eli A;
    • Kurreeman, Fina A S;
    • Nishida, Nao;
    • Ohmiya, Hiroko;
    • Myouzen, Keiko;
    • Takahashi, Meiko;
    • Sawada, Tetsuji;
    • Nishioka, Yuichi;
    • Yukioka, Masao;
    • Matsubara, Tsukasa;
    • Wakitani, Shigeyuki;
    • Teshima, Ryota;
    • Tohma, Shigeto
    Publication type:
    Article

  • Interpretation of regulatory polymorphism.

    Published in:
    Nature Genetics, 2012, v. 44, n. 5, p. 481, doi. 10.1038/ng.2268
    By:
    • Niemitz, Emily
    Publication type:
    Article

  • KLHL3 mutations cause familial hyperkalemic hypertension by impairing ion transport in the distal nephron.

    Published in:
    Nature Genetics, 2012, v. 44, n. 5, p. 609, doi. 10.1038/ng0512-609
    By:
    • Louis-Dit-Picard, Hélène;
    • Barc, Julien;
    • Trujillano, Daniel;
    • Miserey-Lenkei, Stéphanie;
    • Bouatia-Naji, Nabila;
    • Pylypenko, Olena;
    • Beaurain, Geneviève;
    • Bonnefond, Amélie;
    • Sand, Olivier;
    • Simian, Christophe;
    • Vidal-Petiot, Emmanuelle;
    • Soukaseum, Christelle;
    • Mandet, Chantal;
    • Broux, Françoise;
    • Chabre, Olivier;
    • Delahousse, Michel;
    • Esnault, Vincent;
    • Fiquet, Béatrice;
    • Houillier, Pascal;
    • Bagnis, Corinne Isnard
    Publication type:
    Article

  • Genetics of gene expression in primary immune cells identifies cell type-specific master regulators and roles of HLA alleles.

    Published in:
    Nature Genetics, 2012, v. 44, n. 5, p. 502, doi. 10.1038/ng.2205
    By:
    • Fairfax, Benjamin P;
    • Makino, Seiko;
    • Radhakrishnan, Jayachandran;
    • Plant, Katharine;
    • Leslie, Stephen;
    • Dilthey, Alexander;
    • Ellis, Peter;
    • Langford, Cordelia;
    • Vannberg, Fredrik O;
    • Knight, Julian C
    Publication type:
    Article

  • Multiple apical plasma membrane constituents are associated with susceptibility to meconium ileus in individuals with cystic fibrosis.

    Published in:
    Nature Genetics, 2012, v. 44, n. 5, p. 562, doi. 10.1038/ng.2221
    By:
    • Sun, Lei;
    • Rommens, Johanna M;
    • Corvol, Harriet;
    • Li, Weili;
    • Li, Xin;
    • Chiang, Theodore A;
    • Lin, Fan;
    • Dorfman, Ruslan;
    • Busson, Pierre-François;
    • Parekh, Rashmi V;
    • Zelenika, Diana;
    • Blackman, Scott M;
    • Corey, Mary;
    • Doshi, Vishal K;
    • Henderson, Lindsay;
    • Naughton, Kathleen M;
    • O'Neal, Wanda K;
    • Pace, Rhonda G;
    • Stonebraker, Jaclyn R;
    • Wood, Sally D
    Publication type:
    Article

  • Germline RAD51C mutations confer susceptibility to ovarian cancer.

    Published in:
    Nature Genetics, 2012, v. 44, n. 5, p. 475, doi. 10.1038/ng.2224
    By:
    • Loveday, Chey;
    • Turnbull, Clare;
    • Ruark, Elise;
    • Xicola, Rosa Maria Munoz;
    • Ramsay, Emma;
    • Hughes, Deborah;
    • Warren-Perry, Margaret;
    • Snape, Katie;
    • Eccles, Diana;
    • Evans, D Gareth;
    • Gore, Martin;
    • Renwick, Anthony;
    • Seal, Sheila;
    • Antoniou, Antonis C;
    • Rahman, Nazneen
    Publication type:
    Article

  • Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of ?-dystroglycan.

    Published in:
    Nature Genetics, 2012, v. 44, n. 5, p. 581, doi. 10.1038/ng.2253
    By:
    • Roscioli, Tony;
    • Kamsteeg, Erik-Jan;
    • Buysse, Karen;
    • Maystadt, Isabelle;
    • van Reeuwijk, Jeroen;
    • van den Elzen, Christa;
    • van Beusekom, Ellen;
    • Riemersma, Moniek;
    • Pfundt, Rolph;
    • Vissers, Lisenka E L M;
    • Schraders, Margit;
    • Altunoglu, Umut;
    • Buckley, Michael F;
    • Brunner, Han G;
    • Grisart, Bernard;
    • Zhou, Huiqing;
    • Veltman, Joris A;
    • Gilissen, Christian;
    • Mancini, Grazia M S;
    • Delrée, Paul
    Publication type:
    Article

  • Exome sequencing of gastric adenocarcinoma identifies recurrent somatic mutations in cell adhesion and chromatin remodeling genes.

    Published in:
    Nature Genetics, 2012, v. 44, n. 5, p. 570, doi. 10.1038/ng.2246
    By:
    • Zang, Zhi Jiang;
    • Cutcutache, Ioana;
    • Poon, Song Ling;
    • Zhang, Shen Li;
    • McPherson, John R;
    • Tao, Jiong;
    • Rajasegaran, Vikneswari;
    • Heng, Hong Lee;
    • Deng, Niantao;
    • Gan, Anna;
    • Lim, Kiat Hon;
    • Ong, Choon Kiat;
    • Huang, DaChuan;
    • Chin, Sze Yung;
    • Tan, Iain Beehuat;
    • Ng, Cedric Chuan Young;
    • Yu, Willie;
    • Wu, Yingting;
    • Lee, Minghui;
    • Wu, Jeanie
    Publication type:
    Article