Works matching IS 10614036 AND DT 2000 AND VI 25 AND IP 1

Results: 37

Mice deficient in Six5 develop cataracts: implications for myotonic dystrophy.

Published in:

Nature Genetics, 2000, v. 25, n. 1, p. 105, doi. 10.1038/75490

By:

Klesert, Todd R.;
Cho, Diane H.;
Clark, John I.;
Maylie, James;
Adelman, John;
Snider, Lauren;
Yuen, Eric C.;
Soriano, Philippe;
Tapscott, Stephen J.

Publication type:

Article

Heterozygous loss of Six5 in mice is sufficient to cause ocular cataracts.

Published in:

Nature Genetics, 2000, v. 25, n. 1, p. 110, doi. 10.1038/75500

By:

Sarkar, Partha S.;
Appukuttan, Binoy;
Han, Jennifer;
Ito, Yoshihiro;
Ai, Cuiwei;
Tsai, Wenli;
Chai, Yang;
Stout, J. Timothy;
Reddy, Sita

Publication type:

Article

Allegro, a new computer program for multipoint linkage analysis.

Published in:

Nature Genetics, 2000, v. 25, n. 1, p. 12, doi. 10.1038/75514

By:

Gudbjartsson, Daniel F.;
Jonasson, Kristjan;
Frigge, Michael L.;
Kong, Augustine

Publication type:

Article

OMIM passes the 1,000-disease-gene mark.

Published in:

Nature Genetics, 2000, v. 25, n. 1, p. 11, doi. 10.1038/75497

By:

Antonarakis, Stylianos E.;
McKusick, Victor A.

Publication type:

Article

Sex, genes and women's health.

Published in:: Nature Genetics, 2000, v. 25, n. 1, p. 1, doi. 10.1038/75482
Publication type:: Article

Dopamine is required for hyperphagia in Lep<sup>ob/ob</sup> mice.

Published in:

Nature Genetics, 2000, v. 25, n. 1, p. 102, doi. 10.1038/75484

By:

Szczypka, Mark S.;
Rainey, Mark A.;
Palmiter, Richard D.

Publication type:

Article

Charcot-Marie-Tooth type 4B is caused by mutations in the gene encoding myotubularin-related protein-2.

Published in:

Nature Genetics, 2000, v. 25, n. 1, p. 17, doi. 10.1038/75542

By:

Bolino, Alessandra;
Muglia, Maria;
Conforti, Francesca Luisa;
LeGuern, Eric;
Salih, Mustafa A.M.;
Georgiou, Domna-Maria;
Christodoulou, Kyproula;
Hausmanowa-Petrusewicz, Irena;
Mandich, Paola;
Schenone, Angelo;
Gambardella, Antonio;
Bono, Franco;
Quattrone, Aldo;
Devoto, Marcella;
Monaco, Anthony P.

Publication type:

Article

Shotgun sample sequence comparisons between mouse and human genomes.

Published in:

Nature Genetics, 2000, v. 25, n. 1, p. 31, doi. 10.1038/75563

By:

Bouck, John B.;
Metzker, Michael L.;
Gibbs, Richard A.

Publication type:

Article

Somatic integration and long-term transgene expression in normal and haemophilic mice using a DNA transposon system.

Published in:

Nature Genetics, 2000, v. 25, n. 1, p. 35, doi. 10.1038/75568

By:

Yant, Stephen R.;
Meuse, Leonard;
Chiu, Winnie;
Ivics, Zoltan;
Izsvak, Zsuzsanna;
Kay, Mark A.

Publication type:

Article

Erratum to “Mutations in a new gene in Ellis-van Creveld syndrome and Weyers acrodental dysostosis”.

Published in:

2000

By:

van den Boogaard, Marie-José H.

Publication type:

Correction Notice

ATM-dependent phosphorylation of nibrin in response to radiation exposure.

Published in:

Nature Genetics, 2000, v. 25, n. 1, p. 115, doi. 10.1038/75508

By:

Gatei, Magtouf;
Young, David;
Cerosaletti, Karen M.;
Desai-Mehta, Ami;
Spring, Kevin;
Kozlov, Sergei;
Lavin, Martin F.;
Gatti, Richard A.;
Concannon, Patrick;
Khanna, KumKum

Publication type:

Article

Genetic and epigenetic incompatibilities underlie hybrid dysgenesis in Peromyscus.

Published in:

Nature Genetics, 2000, v. 25, n. 1, p. 120, doi. 10.1038/75518

By:

Vrana, Paul B.;
Fossella, John A.;
Matteson, Paul;
del Rio, Tony;
O'Neill, Michael J.;
Tilghman, Shirley M.

Publication type:

Article

Erratum to “Analysing complex genetic traits with chromosome substitution strains”.

Published in:

2000

By:

Boute, Nicolas

Publication type:

Correction Notice

The helix files.

Published in:

2000

By:

Davies, Kevin

Publication type:

Book Review

Gene Ontology: tool for the unification of biology.

Published in:

Nature Genetics, 2000, v. 25, n. 1, p. 25, doi. 10.1038/75556

By:

Ashburner, Michael;
Ball, Catherine A.;
Blake, Judith A.;
Botstein, David;
Butler, Heather;
Cherry, J. Michael;
Davis, Allan P.;
Dolinski, Kara;
Dwight, Selina S.;
Eppig, Janan T.;
Harris, Midori A.;
Hill, David P.;
Issel-Tarver, Laurie;
Kasarskis, Andrew;
Lewis, Suzanna;
Matese, John C.;
Richardson, Joel E.;
Ringwald, Martin;
Rubin, Gerald M.

Publication type:

Article

Erratum to “MSX1 mutation is associated with orofacial clefting and tooth agenesis in humans”.

Published in:

2000

By:

Ruiz-Perez, Victor L.

Publication type:

Correction Notice

Correction to “NPHS2, encoding the glomerular protein podocin, is mutated in autosomal recessive steroid-resistant nephrotic syndrome”.

Published in:

2000

By:

Nadeau, Joseph H.

Publication type:

Correction Notice

The gene TFR2 is mutated in a new type of haemochromatosis mapping to 7q22.

Published in:

Nature Genetics, 2000, v. 25, n. 1, p. 14, doi. 10.1038/75534

By:

Camaschella, Clara;
Roetto, Antonella;
Calì, Angelita;
De Gobbi, Marco;
Garozzo, Giovanni;
Carella, Massimo;
Majorano, Nunzia;
Totaro, Angela;
Gasparini, Paolo

Publication type:

Article

Missense mutations in MIP underlie autosomal dominant ‘polymorphic’ and lamellar cataracts linked to 12q.

Published in:

Nature Genetics, 2000, v. 25, n. 1, p. 15, doi. 10.1038/75538

By:

Berry, Vanita;
Francis, Peter;
Kaushal, Shalesh;
Moore, Anthony;
Bhattacharya, Shomi

Publication type:

Article

Robustness?it's not where you think it is.

Published in:

Nature Genetics, 2000, v. 25, n. 1, p. 3, doi. 10.1038/75560

By:

Wolfe, Ken

Publication type:

Article

The imprinted antisense RNA at the Igf2r locus overlaps but does not imprint Mas1.

Published in:

Nature Genetics, 2000, v. 25, n. 1, p. 19, doi. 10.1038/75546

By:

Lyle, Robert;
Watanabe, Daisuke;
Vruchte, Daniëlle te;
Lerchner, Walter;
Smrzka, Oskar W.;
Wutz, Anton;
Schageman, Jeoffrey;
Hahner, Lisa;
Davies, Christopher;
Barlow, Denise P.

Publication type:

Article

Maintaining imprinting.

Published in:

Nature Genetics, 2000, v. 25, n. 1, p. 4, doi. 10.1038/75575

By:

Mann, Mellissa R W;
Bartolomei, Marisa S

Publication type:

Article

New tricks with pond scum.

Published in:

2000

By:

Miller, Michael C.;
Collins, Kathleen

Publication type:

Book Review

Mutations in TFAP2B cause Char syndrome, a familial form of patent ductus arteriosus.

Published in:

Nature Genetics, 2000, v. 25, n. 1, p. 42, doi. 10.1038/75578

By:

Satoda, Masahiko;
Zhao, Feng;
Diaz, George A.;
Burn, John;
Goodship, Judith;
Davidson, H. Rosemarie;
Pierpont, Mary Ella M.;
Gelb, Bruce D.

Publication type:

Article

A common polymorphism acts as an intragenic modifier of mutant p53 behaviour.

Published in:

Nature Genetics, 2000, v. 25, n. 1, p. 47, doi. 10.1038/75586

By:

Marin, Maria Carmen;
Jost, Christine A.;
Brooks, Louise A.;
Irwin, Meredith S.;
O'Nions, Jenny;
Tidy, John A.;
James, Nick;
McGregor, Jane M.;
Harwood, Catherine A.;
Yulug, Isik G.;
Vousden, Karen H.;
Allday, Martin J.;
Gusterson, Barry;
Ikawa, Shuntaro;
Hinds, Philip W.;
Crook, Tim;
Kaelin, William G.

Publication type:

Article

Combined activation of Ras and Akt in neural progenitors induces glioblastoma formation in mice.

Published in:

Nature Genetics, 2000, v. 25, n. 1, p. 55, doi. 10.1038/75596

By:

Holland, Eric C.;
Celestino, Joseph;
Dai, Chengkai;
Schaefer, Laura;
Sawaya, Raymond E.;
Fuller, Gregory N.

Publication type:

Article

Large-scale identification of secreted and membrane-associated gene products using DNA microarrays.

Published in:

Nature Genetics, 2000, v. 25, n. 1, p. 58, doi. 10.1038/75603

By:

Diehn, Maximilian;
Eisen, Michael B.;
Botstein, David;
Brown, Patrick O.

Publication type:

Article

Triglycerides and toggling the tummy.

Published in:

Nature Genetics, 2000, v. 25, n. 1, p. 6, doi. 10.1038/75610

By:

Kahn, C Ronald

Publication type:

Article

Protection of Rpe65-deficient mice identifies rhodopsin as a mediator of light-induced retinal degeneration.

Published in:

Nature Genetics, 2000, v. 25, n. 1, p. 63, doi. 10.1038/75614

By:

Grimm, Christian;
Wenzel, Andreas;
Hafezi, Farhad;
Yu, Shirley;
Redmond, T. Michael;
Remé, Charlotte E.

Publication type:

Article

Rom-1 is required for rod photoreceptor viability and the regulation of disk morphogenesis.

Published in:

Nature Genetics, 2000, v. 25, n. 1, p. 67, doi. 10.1038/75621

By:

Clarke, Geoff;
Goldberg, Andrew F.X.;
Vidgen, Danka;
Collins, Leslie;
Ploder, Lynda;
Schwarz, Lois;
Molday, Laurie L.;
Rossant, Janet;
Szél, Ágoston;
Molday, Robert S.;
Birch, David G.;
McInnes, Roderick R.

Publication type:

Article

De novo deletions of SNRPN exon 1 in early human and mouse embryos result in a paternal to maternal imprint switch.

Published in:

Nature Genetics, 2000, v. 25, n. 1, p. 74, doi. 10.1038/75629

By:

Bielinska, Beata;
Blaydes, Susan M.;
Buiting, Karin;
Yang, Tao;
Krajewska-Walasek, Malgorzata;
Horsthemke, Bernhard;
Brannan, Camilynn I.

Publication type:

Article

Mutation of a gene encoding a putative chaperonin causes McKusick-Kaufman syndrome.

Published in:

Nature Genetics, 2000, v. 25, n. 1, p. 79, doi. 10.1038/75637

By:

Stone, Deborah L.;
Slavotinek, Anne;
Bouffard, Gerard G.;
Banerjee-Basu, Sharmila;
Baxevanis, Andreas D.;
Barr, Mason;
Biesecker, Leslie G.

Publication type:

Article

Conditional inactivation of Fgf4 reveals complexity of signalling during limb bud development.

Published in:

Nature Genetics, 2000, v. 25, n. 1, p. 83, doi. 10.1038/75644

By:

Sun, Xin;
Lewandoski, Mark;
Meyers, Erik N.;
Liu, Yi-Hsin;
Maxson, Robert E.;
Martin, Gail R.

Publication type:

Article

Obesity resistance and multiple mechanisms of triglyceride synthesis in mice lacking Dgat.

Published in:

Nature Genetics, 2000, v. 25, n. 1, p. 87, doi. 10.1038/75651

By:

Smith, Steven J.;
Cases, Sylvaine;
Jensen, Dalan R.;
Chen, Hubert C.;
Sande, Eric;
Tow, Bryan;
Sanan, David A.;
Raber, Jacob;
Eckel, Robert H.;
Farese, Robert V.

Publication type:

Article

Touchingbase.

Published in:: Nature Genetics, 2000, v. 25, n. 1, p. 9
Publication type:: Article

Mutations in KERA, encoding keratocan, cause cornea plana.

Published in:

Nature Genetics, 2000, v. 25, n. 1, p. 91, doi. 10.1038/75664

By:

Pellegata, Natalia S.;
Dieguez-Lucena, Jose L.;
Joensuu, Tarja;
Lau, Stephanie;
Montgomery, Kate T.;
Krahe, Ralf;
Kivelä, Tero;
Kucherlapati, Raju;
Forsius, Henrik;
de la Chapelle, Albert

Publication type:

Article

Transcript imaging of the development of human T helper cells using oligonucleotide arrays.

Published in:

Nature Genetics, 2000, v. 25, n. 1, p. 96, doi. 10.1038/75671

By:

Rogge, Lars;
Bianchi, Elisabetta;
Biffi, Mauro;
Bono, Elisa;
Chang, Sheng-Yung P.;
Alexander, Heather;
Santini, Chris;
Ferrari, Giuliana;
Sinigaglia, Luigi;
Seiler, Monika;
Neeb, Martin;
Mous, Jan;
Sinigaglia, Francesco;
Certa, Ulrich

Publication type:

Article