Works matching IS 10184813 AND DT 2004 AND VI 12 AND IP 9

Results: 15

CTLA4+49 A/G and CT60 polymorphisms in Dutch coeliac disease patients.

Published in:

European Journal of Human Genetics, 2004, v. 12, n. 9, p. 782, doi. 10.1038/sj.ejhg.5201165

By:

Van Belzen, Martine J.;
Mulder, Chris J. J.;
Zhernakova, Alexandra;
Pearson, Peter L.;
Houwen, Roderick H. J.;
Wijmenga, Cisca

Publication type:

Article

Refined genotype-phenotype correlations in cases of chromosome 6p deletion syndromes.

Published in:

European Journal of Human Genetics, 2004, v. 12, n. 9, p. 718, doi. 10.1038/sj.ejhg.5201194

By:

Mirza, Ghazala;
Williams, Ruth R.;
Mohammed, Shela;
Clark, Robin;
Newbury-Ecob, Ruth;
Baldinger, Shari;
Flinter, Frances;
Ragoussis, Jiannis

Publication type:

Article

Noninvasive diagnosis of the 3243A>G mitochondrial DNA mutation using urinary epithelial cells.

Published in:

European Journal of Human Genetics, 2004, v. 12, n. 9, p. 778, doi. 10.1038/sj.ejhg.5201216

By:

Mcdonnell, Martina T.;
Schaefer, Andrew M.;
Blakely, Emma L.;
McFarland, Robert;
Chinnery, Patrick F.;
Turnbull, Douglass M.;
Taylor, Robert W.

Publication type:

Article

Survival motor neuron SMN1 and SMN2 gene promoters: identical sequences and differential expression in neurons and non-neuronal cells.

Published in:

European Journal of Human Genetics, 2004, v. 12, n. 9, p. 729, doi. 10.1038/sj.ejhg.5201217

By:

Boda, Bernadett;
Mas, Christophe;
Giudicelli, Catherine;
Nepote, Virginie;
Guimiot, Fabien;
Levacher, Béatrice;
Zvara, Agnes;
Santha, Miklos;
Legall, Isabelle;
Simonneau, Michel

Publication type:

Article

Difference in allelic expression of the CLCN1 gene and the possible influence on the myotonia congenita phenotype.

Published in:

European Journal of Human Genetics, 2004, v. 12, n. 9, p. 738, doi. 10.1038/sj.ejhg.5201218

By:

Dunø, Morten;
Colding-Jørgensen, Eskild;
Grunnet, Morten;
Jespersen, Thomas;
Vissing, John;
Schwartz, Marianne

Publication type:

Article

A transmission disequilibrium test for general pedigrees that is robust to the presence of random genotyping errors and any number of untyped parents.

Published in:

European Journal of Human Genetics, 2004, v. 12, n. 9, p. 752, doi. 10.1038/sj.ejhg.5201219

By:

Gordon, Derek;
Haynes, Chad;
Johnnidis, Christopher;
Patel, Shailendra B.;
Bowcock, Anne M.;
Ott, Jürg

Publication type:

Article

Screening of the ARX gene in 682 retarded males.

Published in:

European Journal of Human Genetics, 2004, v. 12, n. 9, p. 701, doi. 10.1038/sj.ejhg.5201222

By:

Grnskov, Karen;
Hjalgrim, Helle;
Nielsen, Inge-Merete;
Brøndum-Nielsen, Karen

Publication type:

Article

Haplotype analysis of BRCA1 gene reveals a new gene rearrangement: characterization of a 19.9 KBP deletion.

Published in:

European Journal of Human Genetics, 2004, v. 12, n. 9, p. 775, doi. 10.1038/sj.ejhg.5201223

By:

Tancredi, Mariella;
Sensi, Elisa;
Cipollini, Giovanna;
Aretini, Paolo;
Lombardi, Grazia;
Di Cristofano, Claudio;
Presciuttini, Silvano;
Bevilacqua, Generoso;
Caligo, Maria Adelaide

Publication type:

Article

The peptide nucleic acids (PNAs), powerful tools for molecular genetics and cytogenetics.

Published in:

European Journal of Human Genetics, 2004, v. 12, n. 9, p. 694, doi. 10.1038/sj.ejhg.5201226

By:

Pellestor, Franck;
Paulasova, Petra

Publication type:

Article

Establishment of genetic associations for complex diseases is independent of early study findings.

Published in:

European Journal of Human Genetics, 2004, v. 12, n. 9, p. 762, doi. 10.1038/sj.ejhg.5201227

By:

Trikalinos, Thomas A.;
Ntzani, Evangelia E.;
Contopoulos-Ioannidis, Despina G.;
Ioannidis, John P. A.

Publication type:

Article

Mutation analysis of five candidate genes in Chinese patients with hypospadias.

Published in:

European Journal of Human Genetics, 2004, v. 12, n. 9, p. 706, doi. 10.1038/sj.ejhg.5201232

By:

Wang, Yanping;
Li, Qiang;
Xu, Jiajie;
Liu, Qingjie;
Wang, Weiqiu;
Lin, Yi;
Ma, Fen;
Chen, Taiji;
Li, Senkai;
Shen, Yan

Publication type:

Article

Inverted duplications: how many of them are mosaic?

Published in:

European Journal of Human Genetics, 2004, v. 12, n. 9, p. 713, doi. 10.1038/sj.ejhg.5201240

By:

Pramparo, Tiziano;
Giglio, Sabrina;
Gregato, Giuliana;
De Gregori, Manuela;
Patricelli, Maria Grazia;
Ciccone, Roberto;
Scappaticci, Susi;
Mannino, Gaetano;
Lombardi, Claudio;
Pirola, Barbara;
Giorda, Roberto;
Rocchi, Mariano;
Zuffardi, Orsetta

Publication type:

Article

Complete genomic structure of the human nebulin gene and identification of alternatively spliced transcripts.

Published in:

European Journal of Human Genetics, 2004, v. 12, n. 9, p. 744, doi. 10.1038/sj.ejhg.5201242

By:

Donner, Kati;
Sandbacka, Maria;
Lehtokari, Vilma-Lotta;
Wallgren-Pettersson, Carina;
Pelin, Katarina

Publication type:

Article

A trio family study showing association of the lymphotoxin-a N26 (804A) allele with coronary artery disease.

Published in:

European Journal of Human Genetics, 2004, v. 12, n. 9, p. 770, doi. 10.1038/sj.ejhg.5201244

By:

Watkins, H.

Publication type:

Article

Monogenic X-linked mental retardation: Is it as frequent as currently estimated? The paradox of the ARX (Aristaless X) mutations.

Published in:

European Journal of Human Genetics, 2004, v. 12, n. 9, p. 689, doi. 10.1038/sj.ejhg.5201247

By:

Mandel, Jean-Louis;
Chelly, Jamel

Publication type:

Article