Works matching IS 10614036 AND DT 1999 AND VI 21

Results: 127

Publishing paradigms.

Published in:: 1999
Publication type:: Editorial

Anti-Xistentialism.

Published in:

Nature Genetics, 1999, v. 21, n. 4, p. 343, doi. 10.1038/7661

By:

Heard, Edith;
Lovell-Badge, Robin;
Avner, Philip

Publication type:

Article

Mediating immunity to mycobacteria.

Published in:

Nature Genetics, 1999, v. 21, n. 4, p. 345, doi. 10.1038/7663

By:

Foote, Simon

Publication type:

Article

A vital role for vitamin A.

Published in:

Nature Genetics, 1999, v. 21, n. 4, p. 346, doi. 10.1038/7665

By:

Eichele, Gregor

Publication type:

Article

Making sense out of sound.

Published in:

Nature Genetics, 1999, v. 21, n. 4, p. 347, doi. 10.1038/7668

By:

Griffith, Andrew J;
Friedman, Thomas B

Publication type:

Article

Touchingbase.

Published in:: Nature Genetics, 1999, v. 21, n. 4, p. 351
Publication type:: Article

A common nonsense mutation results in α-actinin-3 deficiency in the general population.

Published in:

Nature Genetics, 1999, v. 21, n. 4, p. 353, doi. 10.1038/7675

By:

North, Kathryn N.;
Yang, Nan;
Wattanasirichaigoon, Duangrurdee;
Mills, Michelle;
Easteal, Simon;
Beggs, Alan H.

Publication type:

Article

A mutation in NRL is associated with autosomal dominant retinitis pigmentosa.

Published in:

Nature Genetics, 1999, v. 21, n. 4, p. 355, doi. 10.1038/7678

By:

Bessant, David A.R.;
Payne, Annette M.;
Mitton, Kenneth P.;
Wang, Qing-Liang;
Swain, Prabodha K.;
Plant, Catherine;
Bird, Alan C.;
Zack, Donald J.;
Swaroop, Anand;
Bhattacharya, Shomi S.

Publication type:

Article

Counting the repetitive kringle-IV repeats in the gene encoding human apolipoprotein(a) by fibre-FISH.

Published in:

Nature Genetics, 1999, v. 21, n. 4, p. 357, doi. 10.1038/7681

By:

Erdel, Martin;
Hubalek, Michael;
Lingenhel, Arno;
Kofler, Kurt;
Duba, Hans-C;
Utermann, Gerd

Publication type:

Article

Atm haploinsufficiency results in increased sensitivity to sublethal doses of ionizing radiation in mice.

Published in:

Nature Genetics, 1999, v. 21, n. 4, p. 359, doi. 10.1038/7684

By:

Barlow, Carrolee;
Eckhaus, Michael A.;
Schäffer, Alejandro A.;
Wynshaw-Boris, Anthony

Publication type:

Article

Loss of information due to ambiguous haplotyping of SNPs.

Published in:

Nature Genetics, 1999, v. 21, n. 4, p. 360, doi. 10.1038/7687

By:

Hodge, Susan E.;
Boehnke, Michael;
Spence, M. Anne

Publication type:

Article

Genetic determinism and the overprotection of human subjects.

Published in:

Nature Genetics, 1999, v. 21, n. 4, p. 362, doi. 10.1038/7692

By:

Wilcox, Allen J.;
Taylor, Jack A.;
Sharp, Richard R.;
London, Stephanie J.

Publication type:

Article

A mutation in OTOF, encoding otoferlin, a FER-1-like protein, causes DFNB9, a nonsyndromic form of deafness.

Published in:

Nature Genetics, 1999, v. 21, n. 4, p. 363, doi. 10.1038/7693

By:

Yasunaga, Shin'ichiro;
Grati, M'hamed;
Cohen-Salmon, Martine;
El-Amraoui, Aziz;
Mustapha, Mirna;
Salem, Nabiha;
El-Zir, Elie;
Loiselet, Jacques;
Petit, Christine

Publication type:

Article

A human IFNGR1 small deletion hotspot associated with dominant susceptibility to mycobacterial infection.

Published in:

Nature Genetics, 1999, v. 21, n. 4, p. 370, doi. 10.1038/7701

By:

Jouanguy, Emmanuelle;
Lamhamedi-Cherradi, Salma;
Lammas, David;
Dorman, Susan E.;
Fondanèche, Marie-Claude;
Dupuis, Stéphanie;
Döffinger, Rainer;
Altare, Frédéric;
Girdlestone, John;
Emile, Jean-François;
Ducoulombier, Henri;
Edgar, David;
Clarke, Jane;
Oxelius, Vivi-Anne;
Brai, Melchiorre;
Novelli, Vas;
Heyne, Klaus;
Fischer, Alain;
Holland, Steven M

Publication type:

Article

An untranslated CTG expansion causes a novel form of spinocerebellar ataxia (SCA8).

Published in:

Nature Genetics, 1999, v. 21, n. 4, p. 379, doi. 10.1038/7710

By:

Koob, Michael D.;
Moseley, Melinda L.;
Schut, Lawrence J.;
Benzow, Kellie A.;
Bird, Thomas D.;
Day, John W.;
Ranum, Laura P.W.

Publication type:

Article

Comparative genomes of Chlamydia pneumoniae and C. trachomatis.

Published in:

Nature Genetics, 1999, v. 21, n. 4, p. 385, doi. 10.1038/7716

By:

Kalman, Sue;
Mitchell, Wayne;
Marathe, Rekha;
Lammel, Claudia;
Fan, Jun;
Hyman, Richard W;
Olinger, Lynn;
Grimwood, Jane;
Davis, Ronald W;
Stephens, Richard

Publication type:

Article

Independent regulation of the two Pax5 alleles during B-cell development.

Published in:

Nature Genetics, 1999, v. 21, n. 4, p. 390, doi. 10.1038/7720

By:

Nutt, Stephen L;
Vambrie, Susanne;
Steinlein, Peter;
Kozmik, Zbynek;
Rolink, Antonius;
Weith, Andreas;
Busslinger, Meinrad

Publication type:

Article

Transferrin receptor is necessary for development of erythrocytes and the nervous system.

Published in:

Nature Genetics, 1999, v. 21, n. 4, p. 396, doi. 10.1038/7727

By:

Levy, Joanne E.;
Jin, Ou;
Fujiwara, Yuko;
Kuo, Frank;
Andrews, Nancy

Publication type:

Article

Tsix, a gene antisense to Xist at the X-inactivation centre.

Published in:

Nature Genetics, 1999, v. 21, n. 4, p. 400, doi. 10.1038/7734

By:

Lee, Jeannie;
Davidow, Lance S;
Warshawsky, David

Publication type:

Article

Interacting loci cause severe iris atrophy and glaucoma in DBA/2J mice.

Published in:

Nature Genetics, 1999, v. 21, n. 4, p. 405, doi. 10.1038/7741

By:

Chang, Bo;
Smith, Richard S;
Hawes, Norman L;
Anderson, Michael G;
Zabaleta, Adriana;
Savinova, Olga;
Roderick, Thomas H;
Heckenlively, John R.;
Davisson, Muriel T;
John, Simon W M

Publication type:

Article

A common human skin tumour is caused by activating mutations in β-catenin.

Published in:

Nature Genetics, 1999, v. 21, n. 4, p. 410, doi. 10.1038/7747

By:

Chan, Edward;
Gat, Uri;
McNiff, Jennifer M;
Fuchs, Elaine

Publication type:

Article

The complete family of genes encoding G proteins of Caenorhabditis elegans.

Published in:

Nature Genetics, 1999, v. 21, n. 4, p. 414, doi. 10.1038/7753

By:

Jansen, Gert;
Thijssen, Karen L;
Werner, Pia;
van derHorst, Marieke;
Hazendonk, Esther;
Plasterk, Ronald H A

Publication type:

Article

Identification of the gene responsible for gelatinous drop-like corneal dystrophy.

Published in:

Nature Genetics, 1999, v. 21, n. 4, p. 420, doi. 10.1038/7759

By:

Tsujikawa, Motokazu;
Kurahashi, Hiroki;
Tanaka, Toshihiro;
Nishida, Kohji;
Shimomura, Yoshikazu;
Tano, Yasuo;
Nakamura, Yusuke

Publication type:

Article

A novel endothelial-derived lipase that modulates HDL metabolism.

Published in:

Nature Genetics, 1999, v. 21, n. 4, p. 424, doi. 10.1038/7766

By:

Jaye, Michael;
Lynch, Kevin J.;
Krawiec, John;
Marchadier, Dawn;
Maugeais, Cyrille;
Doan, Kim;
South, Victoria;
Amin, Dilip;
Perrone, Mark;
Rader, Daniel J.

Publication type:

Article

Retroposition of autosomal mRNA yielded testis-specific gene family on human Y chromosome.

Published in:

Nature Genetics, 1999, v. 21, n. 4, p. 429, doi. 10.1038/7771

By:

Lahn, Bruce T;
Page, David C

Publication type:

Article

The gene encoding proline dehydrogenase modulates sensorimotor gating in mice.

Published in:

Nature Genetics, 1999, v. 21, n. 4, p. 434, doi. 10.1038/7777

By:

Gogos, Joseph;
Santha, Miklos;
Takacs, Zoltan;
Beck, Kevin D;
Luine, Victoria;
Lucas, Louis R;
Nadler, J. Victor;
Karayiorgou, Maria

Publication type:

Article

The Pendred syndrome gene encodes a chloride-iodide transport protein.

Published in:

Nature Genetics, 1999, v. 21, n. 4, p. 440, doi. 10.1038/7783

By:

Scott, Daryl A.;
Wang, Rong;
Kreman, Trisha M;
Sheffield, Val C.;
Karniski, Lawrence P

Publication type:

Article

Embryonic retinoic acid synthesis is essential for early mouse post-implantation development.

Published in:

Nature Genetics, 1999, v. 21, n. 4, p. 444, doi. 10.1038/7788

By:

Niederreither, Karen;
Subbarayan, Vemparala;
Dollé, Pascal;
Chambon, Pierre

Publication type:

Article

Mutations in the human α-tectorin gene cause autosomal dominant non-syndromic hearing impairment.

Published in:

1999

By:

Verhoeven, Kristien

Publication type:

Erratum

DNA, not d.o.a.

Published in:: 1999
Publication type:: Editorial

Redundancy reveals drugs in action.

Published in:

Nature Genetics, 1999, v. 21, n. 3, p. 245, doi. 10.1038/6748

By:

Oliver, Stephen

Publication type:

Article

Is the genetic basis of DiGeorge syndrome in HAND?

Published in:

Nature Genetics, 1999, v. 21, n. 3, p. 246, doi. 10.1038/6750

By:

Baldini, Antonio

Publication type:

Article

Excision repair invades the territory of mismatch repair.

Published in:

Nature Genetics, 1999, v. 21, n. 3, p. 247, doi. 10.1038/6753

By:

Sancar, Aziz

Publication type:

Article

Modelling cancer in the mouse.

Published in:

Nature Genetics, 1999, v. 21, n. 3, p. 249, doi. 10.1038/6756

By:

Cohen, Barbara

Publication type:

Article

Bumps and pumps, SERCA 1999.

Published in:

Nature Genetics, 1999, v. 21, n. 3, p. 252, doi. 10.1038/6758

By:

Peacocke, Monica;
Christiano, Angela M.

Publication type:

Article

Birds on a wire and tiling the inner ear.

Published in:

Nature Genetics, 1999, v. 21, n. 3, p. 253, doi. 10.1038/6760

By:

Posakony, James W.

Publication type:

Article

TOUCHINGbase.

Published in:: Nature Genetics, 1999, v. 21, n. 3, p. 255
Publication type:: Article

An almost-intact human endogenous retrovirus K on human chromosome 7.

Published in:

Nature Genetics, 1999, v. 21, n. 3, p. 257, doi. 10.1038/6766

By:

Mayer, Jens;
Sauter, Marlies;
Rácz, Alexander;
Scherer, Daniela;
Mueller-Lantzsch, Nikolaus;
Meese, Eckart

Publication type:

Article

300 million years of conserved synteny between chicken Z and human chromosome 9.

Published in:

Nature Genetics, 1999, v. 21, n. 3, p. 258, doi. 10.1038/6769

By:

Nanda, Indrajit;
Shan, Zhihong;
Schartl, Manfred;
Burt, Dave W.;
Koehler, Michael;
Nothwang, Hans-Gerd;
Grützner, Frank;
Paton, Ian R.;
Windsor, Dawn;
Dunn, Ian;
Engel, Wolfgang;
Staeheli, Peter;
Mizuno, Shigeki;
Haaf, Thomas;
Schmid, Michael

Publication type:

Article

Mutant NDUFV1 subunit of mitochondrial complex I causes leukodystrophy and myoclonic epilepsy.

Published in:

Nature Genetics, 1999, v. 21, n. 3, p. 260, doi. 10.1038/6772

By:

Schuelke, Markus;
Smeitink, Jan;
Mariman, Edwin;
Loeffen, Jan;
Plecko, Barbara;
Trijbels, Frans;
Stöckler-Ipsiroglu, Sylvia;
Heuvel, Lambert van den

Publication type:

Article

The insulin gene VNTR, type 2 diabetes and birth weight.

Published in:

Nature Genetics, 1999, v. 21, n. 3, p. 262, doi. 10.1038/6775

By:

Ong, Ken K.L.;
Phillips, David I.;
Fall, Caroline;
Poulton, Jo;
Bennett, Simon T.;
Golding, Jean;
Todd, John A.;
Dunger, David B.

Publication type:

Article

Deafness linked to DFNA2: one locus but how many genes?

Published in:

Nature Genetics, 1999, v. 21, n. 3, p. 263, doi. 10.1038/6778

By:

Hauwe, Peter Van;
Coucke, Paul J.;
Declau, Frank;
Kunst, Henricus;
Ensink, Robbert J.;
Marres, Henri A.;
Cremers, Cor W.R.J.;
Djelantik, Bulantrisna;
Smith, Shelley D.;
Kelley, Phil;
Heyning, Paul H. Van de;
Camp, Guy Van

Publication type:

Article

RNA processing and the evolution of eukaryotes.

Published in:

Nature Genetics, 1999, v. 21, n. 3, p. 265, doi. 10.1038/6780

By:

Herbert, Alan;
Rich, Alexander

Publication type:

Article

Mutations in ATP2A2, encoding a Ca<sup>2+</sup> pump, cause Darier disease.

Published in:

Nature Genetics, 1999, v. 21, n. 3, p. 271, doi. 10.1038/6784

By:

Sakuntabhai, Anavaj;
Ruiz-Perez, Victor;
Carter, Simon;
Jacobsen, Nick;
Burge, Susan;
Monk, Sarah;
Smith, Melanie;
Munro, Colin S.;
O'Donovan, Michael;
Craddock, Nick;
Kucherlapati, Raju;
Rees, Jonathan L.;
Owen, Mike;
Lathrop, G. Mark;
Monaco, Anthony P.;
Strachan, Tom;
Hovnanian, Alain

Publication type:

Article

Genomic profiling of drug sensitivities via induced haploinsufficiency.

Published in:

Nature Genetics, 1999, v. 21, n. 3, p. 278, doi. 10.1038/6791

By:

Giaever, Guri;
Shoemaker, Daniel D.;
Jones, Ted W.;
Liang, Hong;
Winzeler, Elizabeth A.;
Astromoff, Anna;
Davis, Ronald W.

Publication type:

Article

Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy.

Published in:

Nature Genetics, 1999, v. 21, n. 3, p. 285, doi. 10.1038/6799

By:

Bonne, Gisèle;
Barletta, Marina Raffaele Di;
Varnous, Shaida;
Bécane, Henri-Marc;
Hammouda, El-Hadi;
Merlini, Luciano;
Muntoni, Francesco;
Greenberg, Cheryl R.;
Gary, Françoise;
Urtizberea, Jon-Andoni;
Duboc, Denis;
Fardeau, Michel;
Toniolo, Daniela;
Schwartz, Ketty

Publication type:

Article

Notch signalling pathway mediates hair cell development in mammalian cochlea.

Published in:

Nature Genetics, 1999, v. 21, n. 3, p. 289, doi. 10.1038/6804

By:

Lanford, Pamela J.;
Lan, Yu;
Jiang, Rulang;
Lindsell, Claire;
Weinmaster, Gerry;
Gridley, Thomas;
Kelley, Matthew W.

Publication type:

Article

Identification of SLC7A7, encoding y<sup>+</sup>LAT-1, as the lysinuric protein intolerance gene.

Published in:

Nature Genetics, 1999, v. 21, n. 3, p. 293, doi. 10.1038/6809

By:

Torrents, David;
Mykkänen, Juha;
Pineda, Marta;
Feliubadaló, Lidia;
Estévez, Raúl;
Cid, Rafael de;
Sanjurjo, Pablo;
Zorzano, Antonio;
Nunes, Virginia;
Huoponen, Kirsi;
Reinikainen, Arja;
Simell, Olli;
Savontaus, Marja-Liisa;
Aula, Pertti;
Palacín, Manuel

Publication type:

Article

SLC7A7, encoding a putative permease-related protein, is mutated in patients with lysinuric protein intolerance.

Published in:

Nature Genetics, 1999, v. 21, n. 3, p. 297, doi. 10.1038/6815

By:

Borsani, Giuseppe;
Bassi, Maria Teresa;
Sperandeo, Maria Pia;
Grandi, Alessandro De;
Buoninconti, Anna;
Riboni, Mirko;
Manzoni, Marta;
Incerti, Barbara;
Pepe, Antonio;
Andria, Generoso;
Ballabio, Andrea;
Sebastio, Gianfranco

Publication type:

Article

Heterozygous mutations in the gene encoding noggin affect human joint morphogenesis.

Published in:

Nature Genetics, 1999, v. 21, n. 3, p. 302, doi. 10.1038/6821

By:

Gong, Yaoqin;
Krakow, Deborah;
Marcelino, Jose;
Wilkin, Douglas;
Chitayat, David;
Babul-Hirji, Riyana;
Hudgins, Louanne;
Cremers, Cor W.;
Cremers, Frans P.M.;
Brunner, Han G.;
Reinker, Kent;
Rimoin, David L.;
Cohn, Daniel H.;
Goodman, Frances R.;
Reardon, William;
Patton, Michael;
Francomano, Clair A.;
Warman, Matthew L.

Publication type:

Article