Works matching IS 03406717 AND DT 2004 AND VI 115 AND IP 1

Results: 10

Evidence for non-homologous end joining and non-allelic homologous recombination in atypical NF1 microdeletions.

Published in:

Human Genetics, 2004, v. 115, n. 1, p. 69, doi. 10.1007/s00439-004-1101-2

By:

Venturin, Marco;
Gervasini, Cristina;
Orzan, Francesca;
Bentivegna, Angela;
Corrado, Lucia;
Colapietro, Patrizia;
Friso, Alessandra;
Tenconi, Romano;
Upadhyaya, Meena;
Larizza, Lidia;
Riva, Paola

Publication type:

Article

Ancestral proportions and their association with skin pigmentation and bone mineral density in Puerto Rican women from New York city.

Published in:

Human Genetics, 2004, v. 115, n. 1, p. 57, doi. 10.1007/s00439-004-1125-7

By:

Bonilla, Carolina;
Shriver, Mark D.;
Parra, Esteban J.;
Jones, Alfredo;
Fernández, José R.

Publication type:

Article

The origin of the isolated population of the Faroe Islands investigated using Y chromosomal markers.

Published in:

Human Genetics, 2004, v. 115, n. 1, p. 19, doi. 10.1007/s00439-004-1117-7

By:

Jorgensen, Tove H.;
Buttenschön, Henriette N.;
Wang, August G.;
Als, Thomas D.;
Børglum, Anders D.;
Ewald, Henrik

Publication type:

Article

Eric Lander, David Page, Richard Lifton (eds): Annual review of genomics and human genetics (volume 4): Annual Reviews, Palo Alto, California, 2003 (ISBN 0-8243-3704-2) hardcover, $75.00.

Published in:

2004

By:

Young, Ian D.

Publication type:

Book Review

Lipoprotein lipase gene is in linkage with blood pressure phenotypes in Chinese pedigrees.

Published in:

Human Genetics, 2004, v. 115, n. 1, p. 8, doi. 10.1007/s00439-004-1108-8

By:

Yang, Wenjie;
Huang, Jianfeng;
Ge, Dongliang;
Yao, Cailiang;
Duan, Xiufang;
Shen, Yan;
Qiang, Boqin;
Gu, Dongfeng

Publication type:

Article

Mitochondrial DNA polymorphisms as risk factors for Parkinson’s disease and Parkinson’s disease dementia.

Published in:

Human Genetics, 2004, v. 115, n. 1, p. 29, doi. 10.1007/s00439-004-1123-9

By:

Autere, Jaana;
Moilanen, Jukka S.;
Finnilä, Saara;
Soininen, Hilkka;
Mannermaa, Arto;
Hartikainen, Päivi;
Hallikainen, Merja;
Majamaa, Kari

Publication type:

Article

Small marker chromosomes in two patients with segmental aneusomy for proximal 17p.

Published in:

Human Genetics, 2004, v. 115, n. 1, p. 1

By:

Shaw, Christine J.;
Stankiewicz, Pawel;
Bien-Willner, Gabriel;
Bello, Scott C.;
Shaw, Chad A.;
Carrera, Marta;
Perez Jurado, Luis;
Estivill, Xavier;
Lupski, James R.

Publication type:

Article

The effects of scale: variation in the APOA1/C3/A4/A5 gene cluster.

Published in:

Human Genetics, 2004, v. 115, n. 1, p. 36, doi. 10.1007/s00439-004-1106-x

By:

Fullerton, Stephanie M.;
Buchanan, Anne V.;
Sonpar, Vibhor A.;
Taylor, Scott L.;
Smith, Joshua D.;
Carlson, Christopher S.;
Salomaa, Veikko;
Stengård, Jari H.;
Boerwinkle, Eric;
Clark, Andrew G.;
Nickerson, Deborah A.;
Weiss, Kenneth M.

Publication type:

Article

SNTG1, the gene encoding γ1-syntrophin: a candidate gene for idiopathic scoliosis.

Published in:

Human Genetics, 2004, v. 115, n. 1, p. 81, doi. 10.1007/s00439-004-1121-y

By:

Bashiardes, Stavros;
Veile, Rose;
Allen, Missy;
Wise, Carol A.;
Dobbs, Mathew;
Morcuende, Jose A.;
Szappanos, Lazlos;
Herring, John A.;
Bowcock, Anne M.;
Lovett, Michael

Publication type:

Article

An intragenic deletion/inversion event in the DMD gene determines a novel exon creation and results in a BMD phenotype.

Published in:

Human Genetics, 2004, v. 115, n. 1, p. 13, doi. 10.1007/s00439-004-1118-6

By:

Cagliani, Rachele;
Sironi, Manuela;
Ciafaloni, Emma;
Bardoni, Alessandra;
Fortunato, Francesco;
Prelle, Alessandro;
Serafini, Massimo;
Bresolin, Nereo;
Comi, Giacomo P.

Publication type:

Article