Works matching IS 10614036 AND DT 2012 AND VI 44 AND IP 8


Results: 30
    1
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    Loss-of-function mutations in TGFB2 cause a syndromic presentation of thoracic aortic aneurysm.

    Published in:
    Nature Genetics, 2012, v. 44, n. 8, p. 922, doi. 10.1038/ng.2349
    By:
    • Lindsay, Mark E;
    • Schepers, Dorien;
    • Bolar, Nikhita Ajit;
    • Doyle, Jefferson J;
    • Gallo, Elena;
    • Fert-Bober, Justyna;
    • Kempers, Marlies J E;
    • Fishman, Elliot K;
    • Chen, Yichun;
    • Myers, Loretha;
    • Bjeda, Djahita;
    • Oswald, Gretchen;
    • Elias, Abdallah F;
    • Levy, Howard P;
    • Anderlid, Britt-Marie;
    • Yang, Margaret H;
    • Bongers, Ernie M H F;
    • Timmermans, Janneke;
    • Braverman, Alan C;
    • Canham, Natalie
    Publication type:
    Article
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    FAN1 mutations cause karyomegalic interstitial nephritis, linking chronic kidney failure to defective DNA damage repair.

    Published in:
    Nature Genetics, 2012, v. 44, n. 8, p. 910, doi. 10.1038/ng.2347
    By:
    • Zhou, Weibin;
    • Otto, Edgar A;
    • Cluckey, Andrew;
    • Airik, Rannar;
    • Hurd, Toby W;
    • Chaki, Moumita;
    • Diaz, Katrina;
    • Lach, Francis P;
    • Bennett, Geoffrey R;
    • Gee, Heon Yung;
    • Ghosh, Amiya K;
    • Natarajan, Sivakumar;
    • Thongthip, Supawat;
    • Veturi, Uma;
    • Allen, Susan J;
    • Janssen, Sabine;
    • Ramaswami, Gokul;
    • Dixon, Joanne;
    • Burkhalter, Felix;
    • Spoendlin, Martin
    Publication type:
    Article
    6

    Mosaic overgrowth with fibroadipose hyperplasia is caused by somatic activating mutations in PIK3CA.

    Published in:
    Nature Genetics, 2012, v. 44, n. 8, p. 928, doi. 10.1038/ng.2332
    By:
    • Lindhurst, Marjorie J;
    • Parker, Victoria E R;
    • Payne, Felicity;
    • Sapp, Julie C;
    • Rudge, Simon;
    • Harris, Julie;
    • Witkowski, Alison M;
    • Zhang, Qifeng;
    • Groeneveld, Matthijs P;
    • Scott, Carol E;
    • Daly, Allan;
    • Huson, Susan M;
    • Tosi, Laura L;
    • Cunningham, Michael L;
    • Darling, Thomas N;
    • Geer, Joseph;
    • Gucev, Zoran;
    • Sutton, V Reid;
    • Tziotzios, Christos;
    • Dixon, Adrian K
    Publication type:
    Article
    7

    A genome-wide association study identifies two new susceptibility loci for lung adenocarcinoma in the Japanese population.

    Published in:
    Nature Genetics, 2012, v. 44, n. 8, p. 900, doi. 10.1038/ng.2353
    By:
    • Shiraishi, Kouya;
    • Kunitoh, Hideo;
    • Daigo, Yataro;
    • Takahashi, Atsushi;
    • Goto, Koichi;
    • Sakamoto, Hiromi;
    • Ohnami, Sumiko;
    • Shimada, Yoko;
    • Ashikawa, Kyota;
    • Saito, Akira;
    • Watanabe, Shun-ichi;
    • Tsuta, Koji;
    • Kamatani, Naoyuki;
    • Yoshida, Teruhiko;
    • Nakamura, Yusuke;
    • Yokota, Jun;
    • Kubo, Michiaki;
    • Kohno, Takashi
    Publication type:
    Article
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    TGFB2 mutations cause familial thoracic aortic aneurysms and dissections associated with mild systemic features of Marfan syndrome.

    Published in:
    Nature Genetics, 2012, v. 44, n. 8, p. 916, doi. 10.1038/ng.2348
    By:
    • Boileau, Catherine;
    • Guo, Dong-Chuan;
    • Hanna, Nadine;
    • Regalado, Ellen S;
    • Detaint, Delphine;
    • Gong, Limin;
    • Varret, Mathilde;
    • Prakash, Siddharth K;
    • Li, Alexander H;
    • d'Indy, Hyacintha;
    • Braverman, Alan C;
    • Grandchamp, Bernard;
    • Kwartler, Callie S;
    • Gouya, Laurent;
    • Santos-Cortez, Regie Lyn P;
    • Abifadel, Marianne;
    • Leal, Suzanne M;
    • Muti, Christine;
    • Shendure, Jay;
    • Gross, Marie-Sylvie
    Publication type:
    Article
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    Activation of the AXL kinase causes resistance to EGFR-targeted therapy in lung cancer.

    Published in:
    Nature Genetics, 2012, v. 44, n. 8, p. 852, doi. 10.1038/ng.2330
    By:
    • Zhang, Zhenfeng;
    • Lee, Jae Cheol;
    • Lin, Luping;
    • Olivas, Victor;
    • Au, Valerie;
    • LaFramboise, Thomas;
    • Abdel-Rahman, Mohamed;
    • Wang, Xiaoqi;
    • Levine, Alan D;
    • Rho, Jin Kyung;
    • Choi, Yun Jung;
    • Choi, Chang-Min;
    • Kim, Sang-We;
    • Jang, Se Jin;
    • Park, Young Soo;
    • Kim, Woo Sung;
    • Lee, Dae Ho;
    • Lee, Jung-Shin;
    • Miller, Vincent A;
    • Arcila, Maria
    Publication type:
    Article
    21

    Meta-analysis identifies multiple loci associated with kidney function-related traits in east Asian populations.

    Published in:
    Nature Genetics, 2012, v. 44, n. 8, p. 904, doi. 10.1038/ng.2352
    By:
    • Okada, Yukinori;
    • Sim, Xueling;
    • Go, Min Jin;
    • Wu, Jer-Yuarn;
    • Gu, Dongfeng;
    • Takeuchi, Fumihiko;
    • Takahashi, Atsushi;
    • Maeda, Shiro;
    • Tsunoda, Tatsuhiko;
    • Chen, Peng;
    • Lim, Su-Chi;
    • Wong, Tien-Yin;
    • Liu, Jianjun;
    • Young, Terri L;
    • Aung, Tin;
    • Seielstad, Mark;
    • Teo, Yik-Ying;
    • Kim, Young Jin;
    • Lee, Jong-Young;
    • Han, Bok-Ghee
    Publication type:
    Article
    22

    De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes.

    Published in:
    Nature Genetics, 2012, v. 44, n. 8, p. 934, doi. 10.1038/ng.2331
    By:
    • Rivière, Jean-Baptiste;
    • Mirzaa, Ghayda M;
    • O'Roak, Brian J;
    • Beddaoui, Margaret;
    • Alcantara, Diana;
    • Conway, Robert L;
    • St-Onge, Judith;
    • Schwartzentruber, Jeremy A;
    • Gripp, Karen W;
    • Nikkel, Sarah M;
    • Worthylake, Thea;
    • Sullivan, Christopher T;
    • Ward, Thomas R;
    • Butler, Hailly E;
    • Kramer, Nancy A;
    • Albrecht, Beate;
    • Armour, Christine M;
    • Armstrong, Linlea;
    • Caluseriu, Oana;
    • Cytrynbaum, Cheryl
    Publication type:
    Article
    23

    The yak genome and adaptation to life at high altitude.

    Published in:
    Nature Genetics, 2012, v. 44, n. 8, p. 946, doi. 10.1038/ng.2343
    By:
    • Qiu, Qiang;
    • Zhang, Guojie;
    • Ma, Tao;
    • Qian, Wubin;
    • Wang, Junyi;
    • Ye, Zhiqiang;
    • Cao, Changchang;
    • Hu, Quanjun;
    • Kim, Jaebum;
    • Larkin, Denis M;
    • Auvil, Loretta;
    • Capitanu, Boris;
    • Ma, Jian;
    • Lewin, Harris A;
    • Qian, Xiaoju;
    • Lang, Yongshan;
    • Zhou, Ran;
    • Wang, Lizhong;
    • Wang, Kun;
    • Xia, Jinquan
    Publication type:
    Article
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    Control of grain size, shape and quality by OsSPL16 in rice.

    Published in:
    Nature Genetics, 2012, v. 44, n. 8, p. 950, doi. 10.1038/ng.2327
    By:
    • Wang, Shaokui;
    • Wu, Kun;
    • Yuan, Qingbo;
    • Liu, Xueying;
    • Liu, Zhengbin;
    • Lin, Xiaoyan;
    • Zeng, Ruizhen;
    • Zhu, Haitao;
    • Dong, Guojun;
    • Qian, Qian;
    • Zhang, Guiquan;
    • Fu, Xiangdong
    Publication type:
    Article
    28
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    Light-green tomatoes.

    Published in:
    Nature Genetics, 2012, v. 44, n. 8, p. 840, doi. 10.1038/ng.2380
    By:
    • Vogan, Kyle
    Publication type:
    Article
    30

    Structural diversity and African origin of the 17q21.31 inversion polymorphism.

    Published in:
    Nature Genetics, 2012, v. 44, n. 8, p. 872, doi. 10.1038/ng.2335
    By:
    • Steinberg, Karyn Meltz;
    • Antonacci, Francesca;
    • Sudmant, Peter H;
    • Kidd, Jeffrey M;
    • Campbell, Catarina D;
    • Vives, Laura;
    • Malig, Maika;
    • Scheinfeldt, Laura;
    • Beggs, William;
    • Ibrahim, Muntaser;
    • Lema, Godfrey;
    • Nyambo, Thomas B;
    • Omar, Sabah A;
    • Bodo, Jean-Marie;
    • Froment, Alain;
    • Donnelly, Michael P;
    • Kidd, Kenneth K;
    • Tishkoff, Sarah A;
    • Eichler, Evan E
    Publication type:
    Article