Works matching IS 10614036 AND DT 2008 AND VI 40 AND IP 9

Results: 27

tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia.
Published in:
Nature Genetics, 2008, v. 40, n. 9, p. 1113, doi. 10.1038/ng.204
By:
- Buddle, Birgit S;
- Namavar, Yasmin;
- Barth, Peter G.;
- Poll-The, Bwee Tien;
- Nürnberg, Gudrub;
- Becker, Christian;
- van Ruissen, Fred;
- Weterman, Marian A. J.;
- Fluiter, Kees;
- te Beek, Erik T.;
- Aronica, Eleonora;
- van der Knaap, Marj S.;
- Höhne, Wolfgang;
- Toliat, Mohammad Reza;
- Crow, Yanick J.;
- Steinlin, Maja;
- Voit, Thomas;
- Roelens, Filip;
- Brussel, Wim;
- Brockmann, Knut
Publication type:
Article
ADAMTSL2 mutations in geleophysic dysplasia demonstrate a role for ADAMTS-like proteins in TGF-β bioavailability regulation.
Published in:
Nature Genetics, 2008, v. 40, n. 9, p. 1119, doi. 10.1038/ng.199
By:
- Le Goff, Carine;
- Morice-Picard, Fanny;
- Dagoneau, Nathalie;
- Wang, Lauren W.;
- Perrot, Claire;
- Crow, Yanick J.;
- Bauer, Florence;
- Flori, Elisabeth;
- Prost-Squarcioni, Catherine;
- Krakow, Deborah;
- Gaoxiang Ge;
- Greenspan, Daniel S.;
- Bonnet, Damien;
- Le Merrer, Martine;
- Munnich, Arnold;
- Apte, Suneel S.;
- Cormier-Daire, Valérie
Publication type:
Article
Genome-wide association study identifies ANXA11 as a new susceptibility locus for sarcoidosis.
Published in:
Nature Genetics, 2008, v. 40, n. 9, p. 1103, doi. 10.1038/ng.198
By:
- Hofmann, Sylvia;
- Franke, Andre;
- Fischer, Annegret;
- Jacobs, Gunnar;
- Nothnagel, Michael;
- Gaede, Karoline I.;
- Schürmann, Manfred;
- Müller-Quernheim, Joachim;
- Krawczak, Michael;
- Rosenstiel, Philip;
- Schreiber, Stefan
Publication type:
Article
Deletion polymorphism upstream of IRGM associated with altered IRGM expression and Crohn's disease.
Published in:
Nature Genetics, 2008, v. 40, n. 9, p. 1107, doi. 10.1038/ng.215
By:
- McCarroll, Steven A.;
- Huett, Alan;
- Kuballa, Petric;
- Chilewski, Shannon D.;
- Landry, Aimee;
- Goyette, Philippe;
- Zody, Michael C.;
- Hall, Jennifer L.;
- Brant, Steven R.;
- Cho, Judy H.;
- Duerr, Richard H.;
- Silverberg, Mark S.;
- Taylor, Kent D.;
- Rioux, John D.;
- Altshuler, David;
- Daly, Mark J.;
- Xavier, Ramnik J.
Publication type:
Article
Identification of loci associated with schizophrenia by genome-wide association and follow-up.
Published in:
Nature Genetics, 2008, v. 40, n. 9, p. 1053, doi. 10.1038/ng.201
By:
- Michael C. O'Donovan;
- Nicholas Craddock;
- Nadine Norton;
- Hywel Williams;
- Timothy Peirce;
- Valentina Moskvina;
- Ivan Nikolov;
- Marian Hamshere;
- Liam Carroll;
- Lyudmila Georgieva;
- Sarah Dwyer;
- Peter Holmans;
- Jonathan L. Marchini;
- Chris C. A. Spencer;
- Bryan Howie;
- Hin-Tak Leung;
- Annette M. Hartmann;
- Hans-Jürgen Möller;
- Derek W. Morris;
- YongYong Shi
Publication type:
Article
Collaborative genome-wide association analysis supports a role for ANK3 and CACNA1C in bipolar disorder.
Published in:
Nature Genetics, 2008, v. 40, n. 9, p. 1056, doi. 10.1038/ng.209
By:
- Manuel A. R. Ferreira1,2,3,4,5,6;
- Michael C. O'Donovan;
- Yan A. Meng1,2,3,4,5;
- Ian R. Jones;
- Douglas M. Ruderfer1,3,4,5;
- Lisa Jones;
- Jinbo Fan;
- George Kirov;
- Roy H. Perlis1,2,3,4,5;
- Elaine K. Green;
- Jordan W. Smoller;
- Detelina Grozeva;
- Jennifer Stone1,2,3,4,5;
- Ivan Nikolov;
- Kimberly Chambert;
- Marian L. Hamshere;
- Vishwajit L. Nimgaonkar;
- Valentina Moskvina;
- Michael E. Thase;
- Sian Caesar
Publication type:
Article
Genetic variants near TNFAIP3 on 6q23 are associated with systemic lupus erythematosus.
Published in:
Nature Genetics, 2008, v. 40, n. 9, p. 1059, doi. 10.1038/ng.200
By:
- Graham, Robert R.;
- Cotsapas, Chris;
- Davies, Leela;
- Hackett, Rachel;
- Lessard, Christopher J.;
- Leon, Joanlise M.;
- Burtt, Noel P.;
- Guiducci, Candace;
- Parkin, Melissa;
- Gates, Casey;
- Plenge, Robert M.;
- Behrens, Timothy W.;
- Wither, Joan E.;
- Rioux, John D.;
- Fortin, Paul R.;
- Graham, Deborah Cunninghame;
- Wong, Andrew K.;
- Vyse, Timothy J.;
- Daly, Mark J.;
- Altshuler, David
Publication type:
Article
Multiple polymorphisms in the TNFAIP3 region are independently associated with systemic lupus erythematosus.
Published in:
Nature Genetics, 2008, v. 40, n. 9, p. 1062, doi. 10.1038/ng.202
By:
- Musone, Stacy L.;
- Taylor, Kimberly E.;
- Lu, Timothy T.;
- Nititham, Joanne;
- Ferreira, Ricardo C.;
- Ortmann, Ward;
- Shifrin, Nataliya;
- Petri, Michelle A.;
- Kamboh, M. Ilyas;
- Manzi, Susan;
- Sedin, Michael F.;
- Gregersen, Peter K.;
- Behrens, Timothy W.;
- Ma, Averil;
- Pui-Yan Kwok;
- Criswell, Lindsey A.
Publication type:
Article
Mutations of CASK cause an X-linked brain malformation phenotype with microcephaly and hypoplasia of the brainstem and cerebellum.
Published in:
Nature Genetics, 2008, v. 40, n. 9, p. 1065, doi. 10.1038/ng.194
By:
- Najm, Juliane;
- Horn, Denise;
- Wimplinger, Isabella;
- Golden, Jeffrey A.;
- Chizhikov, Victor C.;
- Sudi, Jyotsna;
- Christian, Susan L.;
- Ullmann, Reinhard;
- Kuechler, Alma;
- Haas, Carola A.;
- Flubacher, Armin;
- Charnas, Lawrence R.;
- Uyanik, Gökhan;
- Frank, Ulrich;
- Klopocki, Eva;
- Dobyns, William B.;
- Kutsche, Kerstin
Publication type:
Article
Detection of sharing by descent, long-range phasing and haplotype imputation.
Published in:
Nature Genetics, 2008, v. 40, n. 9, p. 1068, doi. 10.1038/ng.216
By:
- Kong, Augustine;
- Masson, Gisli;
- Frigge, Michael L.;
- Gylfason, Arnaldur;
- Zusmanovich, Pasha;
- Thorleifsson, Gudmar;
- Olason, Pall I.;
- Ingason, Andres;
- Steinberg, Stacy;
- Rafnar, Thorunn;
- Sulem, Patrick;
- Mouy, Magali;
- Jonsson, Frosti;
- Thorsteinsdottir, Unmur;
- Gudbjartsson, Daniel F.;
- Stefansson, Hreinn;
- Stefansson, Kari
Publication type:
Article
Evolutionary toggling of the MAPT 17q21.31 inversion region.
Published in:
Nature Genetics, 2008, v. 40, n. 9, p. 1076, doi. 10.1038/ng.193
By:
- Zody, Michael C.;
- Zhaoshi Jiang;
- Hon-Chung Fung;
- Antonacci, Francesca;
- Hillier, LaDeanna W.;
- Cardone, Maria Francesca;
- Graves, Tina A.;
- Kidd, Jeffrey M.;
- Ze Cheng;
- Abouelleil, Amr;
- Lin Chen;
- Wallis, John;
- Glasscock, Jarret;
- Wilson, Richard K.;
- Reily, Amy Denise;
- Duckworth, Jaime;
- Ventura, Mario;
- Hardy, John;
- Warren, Wesley C.;
- Eichler, Evan E.
Publication type:
Article
Max-independent functions of Myc in Drosophila melanogaster.
Published in:
Nature Genetics, 2008, v. 40, n. 9, p. 1084, doi. 10.1038/ng.178
By:
- Steiger, Dominik;
- Furrer, Michael;
- Schwinkendorf, Daniela;
- Gallant, Peter
Publication type:
Article
Variants in KCNQ1 are associated with susceptibility to type 2 diabetes mellitus.
Published in:
Nature Genetics, 2008, v. 40, n. 9, p. 1092, doi. 10.1038/ng.207
By:
- Yasuda, Kazuki;
- Miyake, Kazuaki;
- Horikawa, Yukio;
- Hara, Kazuo;
- Osawa, Haruhiko;
- Furuta, Hiroto;
- Hirota, Yushi;
- Mori, Hiroyuki;
- Jonsson, Anna;
- Sato, Yoshifumi;
- Yamagata, Kazuya;
- Hinokio, Yoshinori;
- Wang, He-Yao;
- Tanahashi, Toshihito;
- Nakamura, Naoto;
- Oka, Yoshitomo;
- Iwasaki, Naoko;
- Iwamoto, Yasuhiko;
- Yamada, Yuichiro;
- Seino, Yutaka
Publication type:
Article
SNPs in KCNQ1 are associated with susceptibility to type 2 diabetes in East Asian and European populations.
Published in:
Nature Genetics, 2008, v. 40, n. 9, p. 1098, doi. 10.1038/ng.208
By:
- Unoki, Hiroyuki;
- Takahashi, Atsushi;
- Kawaguchi, Takahisa;
- Hara, Kazuo;
- Horikoshi, Momoko;
- Andersen, Gitte;
- Ng, Daniel P. K.;
- Holmvist, Johan;
- Borch-Johnsen, Knut;
- Jøgensen, Torben;
- Sandbaek, Annelli;
- Lauritzen, Torsten;
- Hansen, Torben;
- Nurbaya, Siti;
- Tsunoda, Tatsuhiko;
- Kubo, Michiaki;
- Babazono, Tetsuya;
- Hirose, Hiroshi;
- Hayashi, Matsuhiko;
- Iwamoto, Yasuhiko
Publication type:
Article
A common sequence motif associated with recombination hot spots and genome instability in humans.
Published in:
Nature Genetics, 2008, v. 40, n. 9, p. 1124, doi. 10.1038/ng.213
By:
- Myers, Simon;
- Freeman, Colin;
- Auton, Adam;
- Donnelly, Peter;
- McVean, Gil
Publication type:
Article
Pathological responses to oncogenic Hedgehog signaling in skin are dependent on canonical Wnt/β-catenin signaling.
Published in:
Nature Genetics, 2008, v. 40, n. 9, p. 1130, doi. 10.1038/ng.192
By:
- Steven Hoseong Yang;
- Andl, Thomas;
- Grachtchouk, Vladimir;
- Aiqin Wang;
- Jianhong Liu;
- Li-Jyun Syu;
- Ferris, Jenny;
- Wang, Timothy S.;
- Glick, Adam B.;
- Millar, Sarah E.;
- Dlugosz, Andrzej A.
Publication type:
Article
A developmental framework for dissected leaf formation in the Arabidopsis relative Cardamine hirsuta.
Published in:
Nature Genetics, 2008, v. 40, n. 9, p. 1136, doi. 10.1038/ng.189
By:
- Barkoulas, Michalis;
- Hay, Angela;
- Kougioumoutzi, Evangelia;
- Tsiantis, Miltos
Publication type:
Article
A wiki for the life sciences where authorship matters.
Published in:
Nature Genetics, 2008, v. 40, n. 9, p. 1047, doi. 10.1038/ng.f.217
By:
- Hoffman, Robert
Publication type:
Article
Back to basics in Berlin.
Published in:
2008
Publication type:
Editorial
Variation in KLK genes, prostate-specific antigen and risk of prostate cancer.
Published in:
2008
By:
- Ahn, Jiyoung;
- Berndt, Sonja I.;
- Wacholder, Sholom;
- Kraft, Peter;
- Kibel, Adam S.;
- Yeager, Meredith;
- Albanes, Demetrius;
- Giovannucci, Edward;
- Stampfer, Meir J.;
- Virtamo, Jarmo;
- Thun, Michael J.;
- Feigelson, Heather Spencer;
- Cancel-Tassin, Geraldine;
- Cussenot, Olivier;
- Thomas, Gilles;
- Hunter, David J.;
- Fraumeni Jr., Joseph F.;
- Hoover, Robert N.;
- Chanock, Stephen J.;
- Hayes, Richard B.
Publication type:
Letter
CORRESPONDENCE.
Published in:
2008
By:
- Eeles, Rosalinda;
- Giles, Graham;
- Neal, David;
- Muir, Kenneth;
- Easton, Douglas F.
Publication type:
Letter
Victor A. McKusick 1921–2008.
Published in:
2008
By:
- Rimoin, David L.
Publication type:
Obituary
High anxiety.
Published in:
2008
By:
- Angrist, Misha
Publication type:
Book Review
Casting a wider net for diabetes susceptibility genes.
Published in:
Nature Genetics, 2008, v. 40, n. 9, p. 1039, doi. 10.1038/ng0908-1039
By:
- McCarthy, Mark I.
Publication type:
Article
Hedgehog in Wnterland.
Published in:
Nature Genetics, 2008, v. 40, n. 9, p. 1040, doi. 10.1038/ng0908-1040
By:
- Roop, Dennis;
- Toftgård, Rune
Publication type:
Article
Psychiatric genetics gets a boost.
Published in:
Nature Genetics, 2008, v. 40, n. 9, p. 1042, doi. 10.1038/ng0908-1042
By:
- Maher, Brion S.;
- Riley, Brien P.;
- Kendler, Kenneth S.
Publication type:
Article
Research highlights.
Published in:
Nature Genetics, 2008, v. 40, n. 9, p. 1045, doi. 10.1038/ng0908-1045
By:
- Vogan, Kyle;
- Niemitz, Emily;
- Packer, Alan;
- Bahcall, Orli
Publication type:
Article