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

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

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

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

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

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

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

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