Works matching IS 10184813 AND DT 2003 AND VI 11 AND IP 5

Results: 11

PCR-generated padlock probes distinguish homologous chromosomes through quantitative fluorescence analysis.

Published in:

European Journal of Human Genetics, 2003, v. 11, n. 5, p. 357, doi. 10.1038/sj.ejhg.5200966

By:

Antson, Dan-Oscar;
Mendel-Hartvig, Maritha;
Landegren, Ulf;
Nilsson, Mats

Publication type:

Article

Measured haplotype analysis of the aldosterone synthase gene and heart size.

Published in:

European Journal of Human Genetics, 2003, v. 11, n. 5, p. 395, doi. 10.1038/sj.ejhg.5200967

By:

Mayosi, Bongani M;
Keavney, Bernard;
Watkins, Hugh;
Farrall, Martin

Publication type:

Article

Influence of missense mutation and silent mutation of LHB-subunit gene in Japanese patients with ovulatory disorders.

Published in:

European Journal of Human Genetics, 2003, v. 11, n. 5, p. 402, doi. 10.1038/sj.ejhg.5200968

By:

Takahashi, Kentaro;
Karino, Kenji;
Kanasaki, Haruhiko;
Kurioka, Hiroko;
Ozaki, Tomoya;
Yonehara, Toshie;
Miyazaki, Kohji

Publication type:

Article

Spatial patterns of cystic fibrosis mutation spectra in European populations.

Published in:

European Journal of Human Genetics, 2003, v. 11, n. 5, p. 385, doi. 10.1038/sj.ejhg.5200970

By:

Lao, Oscar;
Andres, Aida M;
Mateu, Eva;
Bertranpetit, Jaume;
Calafell, Francesc

Publication type:

Article

Cys611Ser mutation in RET proto-oncogene in a kindred with medullary thyroid carcinoma and Hirschsprung's disease.

Published in:

European Journal of Human Genetics, 2003, v. 11, n. 5, p. 364, doi. 10.1038/sj.ejhg.5200971

By:

Nishikawa, Mikiko;
Murakumo, Yoshiki;
Imai, Tsuneo;
Kawai, Kumi;
Nagaya, Masahiro;
Funahashi, Hiroomi;
Nakao, Akimasa;
Takahashi, Masahide

Publication type:

Article

Multiplex single-tube screening for mutations in the Nijmegen Breakage Syndrome (NBS1) gene in Hodgkin's and non-Hodgkin's lymphoma patients of Slavic origin.

Published in:

European Journal of Human Genetics, 2003, v. 11, n. 5, p. 416, doi. 10.1038/sj.ejhg.5200972

By:

Soucek, Pavel;
Gut, Ivan;
Trneny, Marek;
Skovlund, Eva;
Grenaker Alnaes, Grethe;
Kristensen, Tom;
Borresen-Dale, Anne-Lise;
Kristensen, Vessela N

Publication type:

Article

Transient expression of wild-type and mutant glucocerebrosidases in hybrid vaccinia expression system.

Published in:

European Journal of Human Genetics, 2003, v. 11, n. 5, p. 369

By:

Hodanova, Katerina;
Melkova, Zora;
Horowitz, Mia;
Hrebicek, Martin

Publication type:

Article

Congenital cataract as the first symptom of a neuromuscular disease caused by a novel single large-scale mitochondrial DNA deletion.

Published in:

European Journal of Human Genetics, 2003, v. 11, n. 5, p. 375, doi. 10.1038/sj.ejhg.5200975

By:

Bene, Judit;
Nadasi, Edit;
Kosztolanyi, Gyorgy;
Mehes, Karoly;
Melegh, Bela

Publication type:

Article

MUC1 polymorphism confers increased risk for intestinal metaplasia in a Colombian population with chronic gastritis.

Published in:

European Journal of Human Genetics, 2003, v. 11, n. 5, p. 380, doi. 10.1038/sj.ejhg.5200978

By:

Silva, Filipe;
Carvalho, Filipa;
Peixoto, Antonio;
Teixeira, Ana;
Almeida, Raquel;
Reis, Celso;
Bravo, Luis Eduardo;
Realpe, Luis;
Correa, Pelayo;
David, Leonor

Publication type:

Article

Identification of a locus (LCA9) for Leber's congenital amaurosis on chromosome 1p36.

Published in:

European Journal of Human Genetics, 2003, v. 11, n. 5, p. 420, doi. 10.1038/sj.ejhg.5200981

By:

Keen, T Jeffrey;
Mohamed, Moin D;
McKibbin, Martin;
Rashid, Yasmin;
Jafri, Hussain;
Maumenee, Irene H;
Inglehearn, Chris F

Publication type:

Article

A new locus for postaxial polydactyly type A/B on chromosome 7q21-q34.

Published in:

European Journal of Human Genetics, 2003, v. 11, n. 5, p. 409, doi. 10.1038/sj.ejhg.5200982

By:

Galjaard, Robert-Jan H;
Smits, Arie P T;
Tuerlings, Joep H A M;
Bais, Aagje G;
Avella, Aida M Bertoli;
Breedveld, Guido;
Graaff, Esther de;
Oostra, Ben A;
Heutink, Peter

Publication type:

Article