Works matching IS 10614036 AND DT 1999 AND VI 21 AND IP 3

Results: 30

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

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

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

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

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

High-resolution mapping of quantitative trait loci in outbred mice.

Published in:

Nature Genetics, 1999, v. 21, n. 3, p. 305, doi. 10.1038/6825

By:

Talbot, Christopher J.;
Nicod, Alison;
Cherny, Stacey S.;
Fulker, David W.;
Collins, Allan C.;
Flint, Jonathan

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

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

Mutations in ATP2A2, encoding a Ca2+ 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

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

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

Reliable identification of large numbers of candidate SNPs from public EST data.

Published in:

Nature Genetics, 1999, v. 21, n. 3, p. 323, doi. 10.1038/6851

By:

Buetow, Kenneth H.;
Edmonson, Michael N.;
Cassidy, Anna B.

Publication type:

Article

Neuroendocrine dysplasia in mice lacking protein tyrosine phosphatase σ.

Published in:

Nature Genetics, 1999, v. 21, n. 3, p. 330, doi. 10.1038/6859

By:

Elchebly, Mounib;
Wagner, John;
Kennedy, Timothy E.;
Lanctôt, Christian;
Michaliszyn, Eva;
Itié, Annick;
Drouin, Jacques;
Tremblay, Michel L.

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+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

Neuronal defects and posterior pituitary hypoplasia in mice lacking the receptor tyrosine phosphatase PTPσ.

Published in:

Nature Genetics, 1999, v. 21, n. 3, p. 334, doi. 10.1038/6866

By:

Wallace, M.J.;
Batt, J.;
Fladd, C.A.;
Henderson, J.T.;
Skarnes, W.;
Rotin, D.

Publication type:

Article

Mutations in CUBN, encoding the intrinsic factor-vitamin B12 receptor, cubilin, cause hereditary megaloblastic anaemia 1.

Published in:

Nature Genetics, 1999, v. 21, n. 3, p. 309, doi. 10.1038/6831

By:

Aminoff, Maria;
Carter, Jo Ellen;
Chadwick, Robert B.;
Johnson, Cheryl;
Gräsbeck, Ralph;
Abdelaal, Mohamed A.;
Broch, Harald;
Jenner, Lasse B.;
Verroust, Pierre J.;
Moestrup, Soeren K.;
Chapelle, Albert de la;
Krahe, Ralf

Publication type:

Article

Involvement of nucleotide-excision repair in msh2 pms1-independent mismatch repair.

Published in:

Nature Genetics, 1999, v. 21, n. 3, p. 314, doi. 10.1038/6838

By:

Fleck, Oliver;
Lehmann, Elisabeth;
Schär, Primo;
Kohli, Jürg

Publication type:

Article

Prox1 function is crucial for mouse lens-fibre elongation.

Published in:

Nature Genetics, 1999, v. 21, n. 3, p. 318, doi. 10.1038/6844

By:

Wigle, Jeffrey T.;
Chowdhury, Kamal;
Gruss, Peter;
Oliver, Guillermo

Publication type:

Article

Shades of spring.

Published in:

Nature Genetics, 1999, v. 21, n. 3, p. 339, doi. 10.1038/6872

By:

Dennis, Carina

Publication type:

Article

Amino-terminal phosphorylation of c-Jun regulates stress-induced apoptosis and cellular proliferation.

Published in:

Nature Genetics, 1999, v. 21, n. 3, p. 326, doi. 10.1038/6854

By:

Behrens, Axel;
Sibilia, Maria;
Wagner, Erwin F.

Publication type:

Article

Works matching IS 10614036 AND DT 1999 AND VI 21 AND IP 3

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

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

Birds on a wire and tiling the inner ear.

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

DNA, not d.o.a.

Redundancy reveals drugs in action.

Is the genetic basis of DiGeorge syndrome in HAND?

Excision repair invades the territory of mismatch repair.

Modelling cancer in the mouse.

Bumps and pumps, SERCA 1999.

High-resolution mapping of quantitative trait loci in outbred mice.

TOUCHINGbase.

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

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

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

RNA processing and the evolution of eukaryotes.

Genomic profiling of drug sensitivities via induced haploinsufficiency.

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

Reliable identification of large numbers of candidate SNPs from public EST data.

Neuroendocrine dysplasia in mice lacking protein tyrosine phosphatase σ.

Notch signalling pathway mediates hair cell development in mammalian cochlea.

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

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

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

Neuronal defects and posterior pituitary hypoplasia in mice lacking the receptor tyrosine phosphatase PTPσ.

Mutations in CUBN, encoding the intrinsic factor-vitamin B<sub>12</sub> receptor, cubilin, cause hereditary megaloblastic anaemia 1.

Involvement of nucleotide-excision repair in msh2 pms1-independent mismatch repair.

Prox1 function is crucial for mouse lens-fibre elongation.

Shades of spring.

Amino-terminal phosphorylation of c-Jun regulates stress-induced apoptosis and cellular proliferation.