Works matching IS 03406717 AND DT 2003 AND VI 112 AND IP 4

Results: 21

Nucleotide and haplotypic diversity of the NOS2A promoter region and its relationship to cerebral malaria.

Published in:

Human Genetics, 2003, v. 112, n. 4, p. 379, doi. 10.1007/s00439-002-0882-4

By:

Burgner, David;
Usen, Stanley;
Rockett, Kirk;
Jallow, Muminatou;
Ackerman, Hans;
Cervino, Alessandra;
Pinder, Margaret;
Kwiatkowski, Dominic P.

Publication type:

Article

Notch4, a non-HLA gene in the MHC is strongly associated with the most severe form of alopecia areata.

Published in:

Human Genetics, 2003, v. 112, n. 4, p. 400, doi. 10.1007/s00439-002-0898-9

By:

Tazi-Ahnini, R.;
Cork, M. J.;
Wengraf, D.;
Wilson, A. G.;
Gawkrodger, D. J.;
Birch, M. P.;
Messenger, A. G.;
McDonagh, A. J. G.

Publication type:

Article

The future of association studies of common cancers.

Published in:

Human Genetics, 2003, v. 112, n. 4, p. 434, doi. 10.1007/s00439-002-0902-4

By:

Houlston, Richard S.;
Peto, Julian

Publication type:

Article

Genomic structure of the human mitochondrial chaperonin genes: HSP60 and HSP10 are localised head to head on chromosome 2 separated by a bidirectional promoter.

Published in:

2003

By:

Hansen, Jens J.;
Bross, Peter;
Westergaard, Majken;
Nielsen, Marit Nyholm;
Eiberg, Hans;
Børglum, Anders D.;
Mogensen, Jens;
Kristiansen, Karsten;
Bolund, Lars;
Gregersen, Niels

Publication type:

Erratum

The signature motif in human glucose-6-phosphate transporter is essential for microsomal transport of glucose-6-phosphate.

Published in:

Human Genetics, 2003, v. 112, n. 4, p. 430, doi. 10.1007/s00439-002-0903-3

By:

Pan, Chi-Jiunn;
Chen, Li-Yuan;
Mansfield, Brian C.;
Salani, Barbara;
Varesio, Luigi;
Chou, Janice Yang

Publication type:

Article

Null mutations in the N-acetylglutamate synthase gene associated with acute neonatal disease and hyperammonemia.

Published in:

Human Genetics, 2003, v. 112, n. 4, p. 364, doi. 10.1007/s00439-003-0909-5

By:

Caldovic, Ljubica;
Morizono, Hiroki;
Panglao, Maria Gracia;
Cheng, Sabrina F.;
Packman, Seymour;
Tuchman, Mendel

Publication type:

Article

Mutation analysis of the coding sequence of the MECP2 gene in infantile autism.

Published in:

2003

By:

Beyer, Kim S.;
Blasi, Francesca;
Bacchelli, Elena;
Klauck, Sabine M.;
Maestrini, Elena;
Poustka, Annemarie

Publication type:

Erratum

Gene rearrangements in the glucocerebrosidase-metaxin region giving rise to disease-causing mutations and polymorphisms. Analysis of 25 RecNciI alleles in Gaucher disease patients.

Published in:

Human Genetics, 2003, v. 112, n. 4, p. 426, doi. 10.1007/s00439-002-0894-0

By:

Díaz-Font, Anna;
Cormand, Bru;
Blanco, Mariana;
Chamoles, Néstor;
Chabás, Amparo;
Grinberg, Daniel;
Vilageliu, Lluïsa

Publication type:

Article

An Alu-mediated rearrangement as cause of exon skipping in Hunter disease.

Published in:

Human Genetics, 2003, v. 112, n. 4, p. 419, doi. 10.1007/s00439-002-0900-6

By:

Ricci, Verena;
Regis, Stefano;
Di Duca, Marco;
Filocamo, Mirella

Publication type:

Article

Skin pigmentation, biogeographical ancestry and admixture mapping.

Published in:

Human Genetics, 2003, v. 112, n. 4, p. 387, doi. 10.1007/s00439-002-0896-y

By:

Shriver, Mark D.;
Parra, Esteban J.;
Dios, Sonia;
Bonilla, Carolina;
Norton, Heather;
Jovel, Celina;
Pfaff, Carrie;
Jones, Cecily;
Massac, Aisha;
Cameron, Neil;
Baron, Archie;
Jackson, Tabitha;
Argyropoulos, George;
Jin, Li;
Hoggart, Clive J.;
McKeigue, Paul M.;
Kittles, Rick A.

Publication type:

Article

C.W.R.J. Cremers, R.J.H. Smith (eds): Genetic hearing impairment—it's clinical presentations. Advances in Oto-Rhino-Laryngology, Vol 61 (Series ed: W. Arnold): Karger, 2002 (ISBN 3-8055-7449-5) hardcover, EUR 160, US$ 195.

Published in:

2003

By:

Reardon, William

Publication type:

Book Review

Biallelic expression of HRAS and MUCDHL in human and mouse.

Published in:

Human Genetics, 2003, v. 112, n. 4, p. 334, doi. 10.1007/s00439-003-0907-7

By:

Goldberg, Michael;
Wei, Michelle;
Yuan, Luwa;
Murty, Vundavalli V.;
Tycko, Benjamin

Publication type:

Article

Genomic basis of cystathioninuria (MIM 219500) revealed by multiple mutations in cystathionine gamma-lyase (CTH).

Published in:

Human Genetics, 2003, v. 112, n. 4, p. 404, doi. 10.1007/s00439-003-0906-8

By:

Wang, Jian;
Hegele, Robert A.

Publication type:

Article

Linkage of autosomal dominant common variable immunodeficiency to chromosome 5p and evidence for locus heterogeneity.

Published in:

Human Genetics, 2003, v. 112, n. 4, p. 369, doi. 10.1007/s00439-002-0890-4

By:

Braig, D. U.;
Schäffer, A. A.;
Glocker, E.;
Salzer, U.;
Warnatz, K.;
Peter, H. H.;
Grimbacher, B.

Publication type:

Article

Chromosome 18 replaced by two ring chromosomes of chromosome 18 origin.

Published in:

Human Genetics, 2003, v. 112, n. 4, p. 343, doi. 10.1007/s00439-002-0885-1

By:

Miller, K.;
Pabst, B.;
Ritter, H.;
Nürnberg, P.;
Siebert, R.;
Schmidtke, J.;
Arslan-Kirchner, M.

Publication type:

Article

Structural and molecular basis of skeletal muscle diseases: George Karpati (volume editor), Maria Molnar, Hans H. Goebel, Kiichi Arahata, Alan E. H. Emery, Eric Hoffman, Eric Shoubridge (advisory editors) ISN Neuropath Press Basel, ISBN 3-952-23130-4, 311 pages, 85.00$

Published in:

2003

By:

Koch, Manuela C.

Publication type:

Book Review

Novel Artemis gene mutations of radiosensitive severe combined immunodeficiency in Japanese families.

Published in:

Human Genetics, 2003, v. 112, n. 4, p. 348, doi. 10.1007/s00439-002-0897-x

By:

Kobayashi, Norimoto;
Agematsu, Kazunaga;
Sugita, Kanji;
Sako, Masahiro;
Nonoyama, Shigeaki;
Yachie, Akihiro;
Kumaki, Satoru;
Tsuchiya, Shigeru;
Ochs, Hans D.;
Sugita, Katsuo;
Fukushima, Yoshimitsu;
Komiyama, Atsushi

Publication type:

Article

Linkage analysis of prostate cancer susceptibility: confirmation of linkage at 8p22–23.

Published in:

Human Genetics, 2003, v. 112, n. 4, p. 414, doi. 10.1007/s00439-003-0916-6

By:

Wiklund, Fredrik;
Jonsson, Björn-Anders;
Göransson, Ingela;
Bergh, Anders;
Grönberg, Henrik

Publication type:

Article

GJB2 deafness gene shows a specific spectrum of mutations in Japan, including a frequent founder mutation.

Published in:

Human Genetics, 2003, v. 112, n. 4, p. 329, doi. 10.1007/s00439-002-0889-x

By:

Ohtsuka, Akihiro;
Yuge, Isamu;
Kimura, Shinobu;
Namba, Atsushi;
Abe, Satoko;
Van Laer, Lut;
Van Camp, Guy;
Usami, Shin-Ichi

Publication type:

Article

The interleukin-6 (-174) G/C promoter polymorphism is associated with type-2 diabetes mellitus in Native Americans and Caucasians.

Published in:

Human Genetics, 2003, v. 112, n. 4, p. 409, doi. 10.1007/s00439-003-0912-x

By:

Vozarova, Barbora;
Fernández-Real, José-Manuel;
Knowler, William C.;
Gallart, Lluis;
Hanson, Robert L.;
Gruber, Jonathan D.;
Ricart, Wilfredo;
Vendrell, Joan;
Richart, Cristóbal;
Tataranni, P. Antonio;
Wolford, Johanna K.

Publication type:

Article

High level of male-biased Scandinavian admixture in Greenlandic Inuit shown by Y-chromosomal analysis.

Published in:

Human Genetics, 2003, v. 112, n. 4, p. 353, doi. 10.1007/s00439-003-0913-9

By:

Bosch, Elena;
Calafell, Francesc;
Rosser, Zoë H.;
Nørby, Søren;
Lynnerup, Niels;
Hurles, Matthew E.;
Jobling, Mark A.

Publication type:

Article