Works matching IS 10614036 AND DT 2012 AND VI 44 AND IP 11

Results: 29

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 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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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