Works matching IS 10614036 AND DT 2001 AND VI 29 AND IP 1

Results: 31

Something old, something new.

Published in:: 2001
Publication type:: Editorial

Correction: Mitotic recombination effects homozygosity for NF1 germline mutations in neurofibromas.

Published in:

Nature Genetics, 2001, v. 29, n. 1, p. 100, doi. 10.1038/ng0901-100a

By:

Serra, E.;
Rosenbaum, T.;
Nadal, M.;
Winner, U.;
Ars, E.;
Estivill, X.;
Lazaro, C.

Publication type:

Article

Correction: Human mitochondrial DNA deletions associated with mutations in the gene encoding Twinkle, a phage T7 gene 4-like protein localized in mitochondria.

Published in:

Nature Genetics, 2001, v. 29, n. 1, p. 100, doi. 10.1038/ng0901-100b

By:

Spelbrink, J.N.;
Li, F.-Y.;
Tiranti, V.;
Nikali, K.;
Yuan, Q.-P.;
Tariq, M.;
Wanrooij, S.;
Garrido, N.;
Comi, G.;
Morandi, L.;
Santoro, L.;
Toscano, A.;
Fabrizi, G.-M.;
Somer, H.;
Croxen, R.;
Beeson, D.;
Poultron, J.;
Suomalainen, A.;
Jacobs, H.T.

Publication type:

Article

Rescue of embryonic lethality in Mdm4-null mice by loss of Trp53 suggests a nonoverlapping pathway with MDM2 to regulate p53.

Published in:

Nature Genetics, 2001, v. 29, n. 1, p. 92, doi. 10.1038/ng714

By:

Parant, John;
Chavez-Reyes, Arturo;
Little, Natalie A.;
Yan, Wen;
Reinke, Valerie;
Jochemsen, Aart G.;
Lozano, Guillermina

Publication type:

Article

TOUCHINGbase.

Published in:: Nature Genetics, 2001, v. 29, n. 1, p. 11
Publication type:: Article

A new verdict for an old convict.

Published in:

Nature Genetics, 2001, v. 29, n. 1, p. 3, doi. 10.1038/ng0901-3

By:

Pfeifer, Gerd P.

Publication type:

Article

Choreographing mRNA biogenesis.

Published in:

Nature Genetics, 2001, v. 29, n. 1, p. 6, doi. 10.1038/ng0901-6

By:

Cole, Charles N.

Publication type:

Article

The power of public access: the human genome project and the scientific process.

Published in:

Nature Genetics, 2001, v. 29, n. 1, p. 4, doi. 10.1038/ng0901-4

By:

Quackenbush, John

Publication type:

Article

Errata: Promoter-specific binding of Rap1 revealed by genome-wide maps of protein-DNA association.

Published in:

Nature Genetics, 2001, v. 29, n. 1, p. 100, doi. 10.1038/ng0901-100c

By:

Lieb, J.D.;
Liu, X.;
Botstein, D.;
Brown, P.O.

Publication type:

Article

Disruption of an imprinted gene cluster by a targeted chromosomal translocation in mice.

Published in:

Nature Genetics, 2001, v. 29, n. 1, p. 78, doi. 10.1038/ng715

By:

Cleary, Michele A.;
van Raamsdonk, Catherine D.;
Levorse, John;
Zheng, Binhai;
Bradley, Allan;
Tilghman, Shirley M.

Publication type:

Article

Genetics in primary care: what do we expect?

Published in:

2001

By:

Epstein, Charles J.

Publication type:

Book Review

How human geneticists in US view commercialization of the Human Genome Project.

Published in:

Nature Genetics, 2001, v. 29, n. 1, p. 15, doi. 10.1038/ng0901-15

By:

Rabino, Isaac

Publication type:

Article

The sights along route 65.

Published in:

Nature Genetics, 2001, v. 29, n. 1, p. 8, doi. 10.1038/ng0901-8

By:

Saari, John C.

Publication type:

Article

An evaluation of the draft human genome sequence.

Published in:

Nature Genetics, 2001, v. 29, n. 1, p. 88, doi. 10.1038/ng0901-88

By:

Katsanis, Nicholas;
Worley, Kim C.;
Lupski, James R.

Publication type:

Article

Retinoic acid rescues inner ear defects in Hoxa1 deficient mice.

Published in:

Nature Genetics, 2001, v. 29, n. 1, p. 34, doi. 10.1038/ng702

By:

Pasqualetti, Massimo;
Neun, Rüdiger;
Davenne, Marc;
Rijli, Filippo M.

Publication type:

Article

Mutations in the gene encoding immunoglobulin μ-binding protein 2 cause spinal muscular atrophy with respiratory distress type 1.

Published in:

Nature Genetics, 2001, v. 29, n. 1, p. 75, doi. 10.1038/ng703

By:

Grohmann, Katja;
Schuelke, Markus;
Diers, Alexander;
Hoffmann, Katrin;
Lucke, Barbara;
Adams, Coleen;
Bertini, Enrico;
Leonhardt-Horti, Hajnalka;
Muntoni, Francesco;
Ouvrier, Robert;
Pfeufer, Arne;
Rossi, Rainer;
Van Maldergem, Lionel;
Wilmshurst, Jo M.;
Wienker, Thomas F.;
Sendtner, Michael;
Rudnik-Schöneborn, Sabine;
Zerres, Klaus;
Hübner, Christoph

Publication type:

Article

A mutant mitochondrial respiratory chain assembly protein causes complex III deficiency in patients with tubulopathy, encephalopathy and liver failure.

Published in:

Nature Genetics, 2001, v. 29, n. 1, p. 57, doi. 10.1038/ng706

By:

de Lonlay, Pascale;
Valnot, Isabelle;
Barrientos, Antoni;
Gorbatyuk, Marina;
Tzagoloff, Alexander;
Taanman, Jan-Willem;
Benayoun, Emmanuel;
Chrétien, Dominique;
Kadhom, Noman;
Lombès, Anne;
de Baulny, Hélène Ogier;
Niaudet, Patrick;
Munnich, Arnold;
Rustin, Pierre;
Rötig, Agnès

Publication type:

Article

Aberrant regulation of insulin receptor alternative splicing is associated with insulin resistance in myotonic dystrophy.

Published in:

Nature Genetics, 2001, v. 29, n. 1, p. 40, doi. 10.1038/ng704

By:

Savkur, Rajesh S.;
Philips, Anne V.;
Cooper, Thomas A.

Publication type:

Article

Mutations in the gene encoding ε-sarcoglycan cause myoclonus?dystonia syndrome.

Published in:

Nature Genetics, 2001, v. 29, n. 1, p. 66, doi. 10.1038/ng709

By:

Zimprich, Alexander;
Grabowski, Monika;
Asmus, Friedrich;
Naumann, Markus;
Berg, Daniela;
Bertram, Markus;
Scheidtmann, Karl;
Kern, Peter;
Winkelmann, Juliane;
Müller-Myhsok, Bertram;
Riedel, Leonhard;
Bauer, Matthias;
Müller, Tanja;
Castro, Mirna;
Meitinger, Thomas;
Strom, Tim M.;
Gasser, Thomas

Publication type:

Article

Paternal transmission of the very common class I INS VNTR alleles predisposes to childhood obesity.

Published in:

Nature Genetics, 2001, v. 29, n. 1, p. 96, doi. 10.1038/ng707

By:

Le Stunff, Catherine;
Fallin, Danièle;
Bougnères, Pierre

Publication type:

Article

Comparable system-level organization of Archaea and Eukaryotes.

Published in:

Nature Genetics, 2001, v. 29, n. 1, p. 54, doi. 10.1038/ng708

By:

Podani, J.;
Oltvai, Z.N.;
Jeong, H.;
Tombor, B.;
Barabási, A.-L.;
Szathmáry, E.

Publication type:

Article

Mutant β-spectrin 4 causes auditory and motor neuropathies in quivering mice.

Published in:

Nature Genetics, 2001, v. 29, n. 1, p. 61, doi. 10.1038/ng710

By:

Parkinson, Nicholas J.;
Olsson, Christine L.;
Hallows, Janice L.;
McKee-Johnson, Jennifer;
Keogh, Bart P.;
Noben-Trauth, Konrad;
Kujawa, Sharon G.;
Tempel, Bruce L

Publication type:

Article

New views on RPE65 deficiency: the rod system is the source of vision in a mouse model of Leber congenital amaurosis.

Published in:

Nature Genetics, 2001, v. 29, n. 1, p. 70, doi. 10.1038/ng712

By:

Seeliger, Mathias W.;
Grimm, Christian;
Ståhlberg, Fredrik;
Friedburg, Christoph;
Jaissle, Gesine;
Zrenner, Eberhart;
Guo, Hao;
Remé, Charlotte E.;
Humphries, Peter;
Hofmann, Franz;
Biel, Martin;
Fariss, Robert N.;
Redmond, T. Michael;
Wenzel, Andreas

Publication type:

Article

Human mtDNA and Y-chromosome variation is correlated with matrilocal versus patrilocal residence.

Published in:

Nature Genetics, 2001, v. 29, n. 1, p. 20, doi. 10.1038/ng711

By:

Oota, Hiroki;
Settheetham-Ishida, Wannapa;
Tiwawech, Danai;
Ishida, Takafumi;
Stoneking, Mark

Publication type:

Article

CARD15 mutations in Blau syndrome.

Published in:

Nature Genetics, 2001, v. 29, n. 1, p. 19, doi. 10.1038/ng720

By:

Miceli-Richard, Corinne;
Lesage, Suzanne;
Rybojad, Michel;
Prieur, Anne-Marie;
Manouvrier-Hanu, Sylvie;
Häfner, Renate;
Chamaillard, Mathias;
Zouali, Habib;
Thomas, Gilles;
Hugot, Jean-Pierre

Publication type:

Article

Mutations in SEPN1 cause congenital muscular dystrophy with spinal rigidity and restrictive respiratory syndrome.

Published in:

Nature Genetics, 2001, v. 29, n. 1, p. 17, doi. 10.1038/ng713

By:

Moghadaszadeh, Behzad;
Petit, Nathalie;
Jaillard, Céline;
Brockington, Martin;
Roy, Susana Quijano;
Merlini, Luciano;
Romero, Norma;
Estournet, Brigitte;
Desguerre, Isabelle;
Chaigne, Denys;
Muntoni, Francesco;
Topaloglu, Haluk;
Guicheney, Pascale

Publication type:

Article

A Y-encoded subunit of the translation initiation factor Eif2 is essential for mouse spermatogenesis.

Published in:

Nature Genetics, 2001, v. 29, n. 1, p. 49, doi. 10.1038/ng717

By:

Mazeyrat, Sophie;
Saut, Noëmie;
Grigoriev, Vladimir;
Mahadevaiah, Shantha K.;
Ojarikre, Obah A.;
Rattigan, Áine;
Bishop, Colin;
Eicher, Eva M.;
Mitchell, Michael J.;
Burgoyne, Paul S.

Publication type:

Article

The UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase gene is mutated in recessive hereditary inclusion body myopathy.

Published in:

Nature Genetics, 2001, v. 29, n. 1, p. 83, doi. 10.1038/ng718

By:

Eisenberg, Iris;
Avidan, Nili;
Potikha, Tamara;
Hochner, Hagit;
Chen, Miriam;
Olender, Tsviya;
Barash, Mark;
Shemesh, Moshe;
Sadeh, Menachem;
Grabov-Nardini, Gil;
Shmilevich, Inna;
Friedmann, Adam;
Karpati, George;
Bradley, Walter G.;
Baumbach, Lisa;
Lancet, Doron;
Asher, Edna Ben;
Beckmann, Jacques S.;
Argov, Zohar

Publication type:

Article

Wildtype Kras2 can inhibit lung carcinogenesis in mice.

Published in:

Nature Genetics, 2001, v. 29, n. 1, p. 25, doi. 10.1038/ng721

By:

Zhang, Zhongqiu;
Wang, Yian;
Vikis, Haris G.;
Johnson, Leisa;
Liu, Gongjie;
Li, Jie;
Anderson, Marshall W.;
Sills, Robert C.;
Hong, H.L.;
Devereux, Theodora R.;
Jacks, Tyler;
Guan, Kun-Liang;
You, Ming

Publication type:

Article

PTPRC (CD45) is not associated with the development of multiple sclerosis in U.S. patients.

Published in:

Nature Genetics, 2001, v. 29, n. 1, p. 23, doi. 10.1038/ng722

By:

Barcellos, Lisa F.;
Caillier, Stacy;
Dragone, Leonard;
Elder, Melissa;
Vittinghoff, Eric;
Bucher, Patricia;
Lincoln, Robin R.;
Pericak-Vance, Margaret;
Haines, Jonathan L.;
Weiss, Arthur;
Hauser, Stephen L.;
Oksenberg, Jorge R.

Publication type:

Article

Does 77→G in PTPRC modify autoimmune disorders linked to the major histocompatibility locus?

Published in:

Nature Genetics, 2001, v. 29, n. 1, p. 22, doi. 10.1038/ng723

By:

Vorechovsky, Igor;
Kralovicova, Jana;
Tchilian, Elma;
Masterman, Thomas;
Zhang, Zhiping;
Ferry, Berne;
Misbah, Siraj;
Chapel, Helen;
Webster, David;
Hellgren, Dennis;
Anvret, Maria;
Hillert, Jan;
Hammarstrom, Lennart;
Beverley, Peter C.

Publication type:

Article