Works matching IS 10614036 AND DT 2003 AND VI 33 AND IP 4

Results: 31

A clinician's plea.

Published in:

Nature Genetics, 2003, v. 33, n. 4, p. 440, doi. 10.1038/ng0403-440

By:

Hall, Judith G.

Publication type:

Article

Genetical implications.

Published in:: 2003
Publication type:: Editorial

The need for Eed.

Published in:

Nature Genetics, 2003, v. 33, n. 4, p. 433, doi. 10.1038/ng0403-433

By:

Ferguson-Smith, Anne C.;
Reik, Wolf

Publication type:

Article

Classifying humans.

Published in:

Nature Genetics, 2003, v. 33, n. 4, p. 435, doi. 10.1038/ng0403-435

By:

Calafell, Francesc

Publication type:

Article

Wanted: regulatory SNPs.

Published in:

Nature Genetics, 2003, v. 33, n. 4, p. 439, doi. 10.1038/ng0403-439

By:

Hudson, Thomas J.

Publication type:

Article

The smoking gun of gene transfer.

Published in:

Nature Genetics, 2003, v. 33, n. 4, p. 442, doi. 10.1038/ng0403-442

By:

Martin, William

Publication type:

Article

TOUCHINGbase.

Published in:: Nature Genetics, 2003, v. 33, n. 4, p. 443
Publication type:: Article

Jimmy Mac.

Published in:

2003

By:

Weissmann, Gerald

Publication type:

Book Review

Behind the scenes of the HGP.

Published in:

2003

By:

Lupski, James R.

Publication type:

Book Review

Was there life before 1953?

Published in:

Nature Genetics, 2003, v. 33, n. 4, p. 449, doi. 10.1038/ng0403-449

By:

Crow, James F.

Publication type:

Article

Just before Watson and Crick.

Published in:

Nature Genetics, 2003, v. 33, n. 4, p. 451, doi. 10.1038/ng0403-451

By:

Slobodkin, L. B.

Publication type:

Article

DNA and the meaning of life.

Published in:

Nature Genetics, 2003, v. 33, n. 4, p. 453, doi. 10.1038/ng0403-453

By:

Mawer, Simon

Publication type:

Article

Corrigendum: Mice deficient in protein tyrosine phosphatase receptor type Z are resistant to gastric ulcer induction by VacA of Helicobacter pylori.

Published in:

2003

By:

Fujikawa, A;
Shirasaka, D;
Yamamoto, S;
Ota, H;
Yahiro, K;
Fukada, M;
Shintani, T;
Wada, A;
Aoyama, N;
Hirayama, T;
Fukamachi, H;
Noda, M

Publication type:

Correction Notice

Transcription-associated mutational asymmetry in mammalian evolution.

Published in:

Nature Genetics, 2003, v. 33, n. 4, p. 514

By:

Green, Phil;
Ewing, Brent;
Miller, Webb;
Thomas, Pamela J.;
Green, Eric D.

Publication type:

Article

Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans.

Published in:

Nature Genetics, 2003, v. 33, n. 4, p. 487

By:

Robertson, Stephen P.;
Twigg, Stephen R.F.;
Sutherland-Smith, Andrew J.;
Biancalana, Valerie;
Gorlin, Robert J.;
Horn, Denise;
Kenwrick, Susan J.;
Kim, Chong A.;
Morava, Eva;
Newbury-Ecob, Ruth;
Orstavik, Karen H.;
Quarrell, Oliver W.J.;
Schwartz, Charles E.;
Shears, Deborah J.;
Suri, Mohnish;
Kendrick-Jones, John;
Bacino, C.;
Becker, K.;
Clayton-Smith, J.

Publication type:

Article

Mutations in SOX2 cause anophthalmia.

Published in:

Nature Genetics, 2003, v. 33, n. 4, p. 461, doi. 10.1038/ng1120

By:

Fantes, Judy;
Ragge, Nicola K.;
Lynch, Sally-Ann;
McGill, Niolette I.;
Collin, J. Richard O.;
Howard-Peebles, Patricia N.;
Hayward, Caroline;
Vivian, Anthony J.;
Williamson, Kathy;
van Heyningen, Veronica;
FitzPatrick, David R.

Publication type:

Article

Mutations in CLCN2 encoding a voltage-gated chloride channel are associated with idiopathic generalized epilepsies.

Published in:

Nature Genetics, 2003, v. 33, n. 4, p. 527, doi. 10.1038/ng1121

By:

Haug, Karsten;
Warnstedt, Maike;
Alekov, Alexi K.;
Sander, Thomas;
Ramirez, Alfredo;
Poser, Barbara;
Maljevic, Snezana;
Hebeisen, Simon;
Kubisch, Christian;
Rebstock, Johannes;
Horvath, Steve;
Hallmann, Kerstin;
Dullinger, Joern S.;
Rau, Birgit;
Haverkamp, Fritz;
Beyenburg, Stefan;
Schulz, Herbert;
Janz, Dieter;
Giese, Bernd

Publication type:

Article

Loss-of-function mutations in FGFR1 cause autosomal dominant Kallmann syndrome.

Published in:

Nature Genetics, 2003, v. 33, n. 4, p. 463, doi. 10.1038/ng1122

By:

Dode, Catherine;
Levilliers, Jacqueline;
Dupont, Jean-Michel;
De Paepe, Anne;
Le Du, Nathalie;
Soussi-Yanicostas, Nadia;
Coimbra, Roney S.;
Delmaghani, Sedigheh;
Compain-Nouaille, Sylvie;
Baverel, Francoise;
Pecheux, Christophe;
Le Tessier, Dominique;
Cruaud, Corinne;
Delpech, Marc;
Speleman, Frank;
Vermeulen, Stefan;
Amalfitano, Andrea;
Bachelot, Yvan;
Bouchard, Philippe

Publication type:

Article

Mutant dynactin in motor neuron disease.

Published in:

Nature Genetics, 2003, v. 33, n. 4, p. 455, doi. 10.1038/ng1123

By:

Puls, Imke;
Jonnakuty, Catherine;
LaMonte, Bernadette H.;
Holzbaur, Erika L.F.;
Tokito, Mariko;
Mann, Eric;
Floeter, Mary Kay;
Bidus, Kimberly;
Drayna, Dennis;
Oh, Shin J.;
Brown, Robert H.;
Ludlow, Christy L.;
Fischbeck, Kenneth H.

Publication type:

Article

In vivo characterization of regulatory polymorphisms by allele-specific quantification of RNA polymerase loading.

Published in:

Nature Genetics, 2003, v. 33, n. 4, p. 469, doi. 10.1038/ng1124

By:

Knight, Julian C.;
Keating, Brendan J.;
Rockett, Kirk A.;
Kwiatkowski, Dominic P.

Publication type:

Article

Genome imprinting regulated by the mouse Polycomb group protein Eed.

Published in:

Nature Genetics, 2003, v. 33, n. 4, p. 502, doi. 10.1038/ng1125

By:

Mager, Jesse;
Montgomery, Nathan D.;
de Villena, Fernando Pardo-Manuel;
Magnuson, Terry

Publication type:

Article

Mutations in RAI1 associated with Smith-Magenis syndrome.

Published in:

Nature Genetics, 2003, v. 33, n. 4, p. 466, doi. 10.1038/ng1126

By:

Slager, Rebecca E.;
Newton, Tiffany Lynn;
Vlangos, Christopher N.;
Finucane, Brenda;
Elsea, Sarah H.

Publication type:

Article

Erosion of the telomeric single-strand overhang at replicative senescence.

Published in:

Nature Genetics, 2003, v. 33, n. 4, p. 492, doi. 10.1038/ng1127

By:

Stewart, Sheila A.;
Ben-Porath, Ittai;
Carey, Vincent J.;
O'Connor, Benjamin F.;
Hahn, William C.;
Weinberg, Robert A.

Publication type:

Article

Additional SNPs and linkage-disequilibrium analyses are necessary for whole-genome association studies in humans.

Published in:

Nature Genetics, 2003, v. 33, n. 4, p. 518, doi. 10.1038/ng1128

By:

Carlson, Christopher S.;
Eberle, Michael A.;
Rieder, Mark J.;
Smith, Joshua D.;
Kruglyak, Leonid;
Nickerson, Deborah A.

Publication type:

Article

A splicing mutation affecting expression of ataxia-telangiectasia and Rad3-related protein (ATR) results in Seckel syndrome.

Published in:

Nature Genetics, 2003, v. 33, n. 4, p. 497, doi. 10.1038/ng1129

By:

O'Driscoll, Mark;
Ruiz-Perez, Victor L.;
Woods, C. Geoffrey;
Jeggo, Penny A.;
Goodship, Judith A.

Publication type:

Article

Polyalanine expansion and frameshift mutations of the paired-like homeobox gene PHOX2B in congenital central hypoventilation syndrome.

Published in:

Nature Genetics, 2003, v. 33, n. 4, p. 459, doi. 10.1038/ng1130

By:

Amiel, Jeanne;
Laudier, Beatrice;
Attie-Bitach, Tania;
Trang, Ha;
de Pontual, Loic;
Gener, Blanca;
Trochet, Delphine;
Etchevers, Heather;
Ray, Pierre;
Simonneau, Michel;
Vekemans, Michel;
Munnich, Arnold;
Gaultier, Claude;
Lyonnet, Stanislas

Publication type:

Article

Loss of neuropathy target esterase in mice links organophosphate exposure to hyperactivity.

Published in:

Nature Genetics, 2003, v. 33, n. 4, p. 477, doi. 10.1038/ng1131

By:

Winrow, Christopher J.;
Hemming, Matthew L.;
Allen, Duane M.;
Quistad, Gary B.;
Casida, John E.;
Barlow, Carrolee

Publication type:

Article

Quality and completeness of SNP databases.

Published in:

Nature Genetics, 2003, v. 33, n. 4, p. 457, doi. 10.1038/ng1133

By:

Reich, David E.;
Gabriel, Stacey B.;
Altshuler, David

Publication type:

Article

A defective response to Hedgehog signaling in disorders of cholesterol biosynthesis.

Published in:

Nature Genetics, 2003, v. 33, n. 4, p. 508, doi. 10.1038/ng1134

By:

Cooper, Michael K.;
Wassif, Christopher A.;
Krakowiak, Patrycja A.;
Taipale, Jussi;
Gong, Ruoyu;
Kelley, Richard I.;
Porter, Forbes D.;
Beachy, Philip A.

Publication type:

Article

Neurotoxic esterase: not so toxic?

Published in:

Nature Genetics, 2003, v. 33, n. 4, p. 437, doi. 10.1038/ng1135

By:

O'Callaghan, James P.

Publication type:

Article

Sir3p phosphorylation by the Slt2p pathway effects redistribution of silencing function and shortened lifespan.

Published in:

Nature Genetics, 2003, v. 33, n. 4, p. 522, doi. 10.1038/ng1132

By:

Ray, Alo;
Hector, Ronald E.;
Roy, Nilanjan;
Song, Jee-Hyeon;
Berkner, Kathleen L.;
Runge, Kurt W.

Publication type:

Article