Works matching IS 03406717 AND DT 2003 AND VI 112 AND IP 5/6

Results: 18

The Finnish disease heritage III: the individual diseases.

Published in:

Human Genetics, 2003, v. 112, n. 5/6, p. 470, doi. 10.1007/s00439-002-0877-1

By:

Norio, Reijo

Publication type:

Article

Compound heterozygosity at the sphingomyelin phosphodiesterase-1 (SMPD1) gene is associated with low HDL cholesterol.

Published in:

Human Genetics, 2003, v. 112, n. 5/6, p. 552, doi. 10.1007/s00439-002-0893-1

By:

Ching Yin Lee;
Krimbou, Larbi;
Vincent, Jérôme;
Bernard, Chantal;
Larramée, Pierre;
Genest, Jacques;
Marcil, Michel

Publication type:

Article

Variation in the FABP2 promoter alters transcriptional activity and is associated with body composition and plasma lipid levels.

Published in:

Human Genetics, 2003, v. 112, n. 5/6, p. 610, doi. 10.1007/s00439-003-0937-1

By:

Damcott, Coleen M.;
Feingold, Eleanor;
Moffett, Susan P.;
Barmada, M. Michael;
Marshall, Julie A.;
Hamman, Richard F.;
Ferrell, Robert E.

Publication type:

Article

Finnish Disease Heritage II: population prehistory and genetic roots of Finns.

Published in:

Human Genetics, 2003, v. 112, n. 5/6, p. 457, doi. 10.1007/s00439-002-0876-2

By:

Norio, Reijo

Publication type:

Article

European Academy of Andrology (EAA) International Symposium.

Published in:: Human Genetics, 2003, v. 112, n. 5/6, p. 623, doi. 10.1007/s00439-003-0947-z
Publication type:: Article

Genome-wide targeted search for human specific and polymorphic L1 integrations.

Published in:

Human Genetics, 2003, v. 112, n. 5/6, p. 527, doi. 10.1007/s00439-002-0904-2

By:

Buzdin, Anton;
Ustyugova, Svetlana;
Gogvadze, Elena;
Lebedev, Yuri;
Hunsmann, Gerhard;
Sverdlov, Eugene

Publication type:

Article

Finnish Disease Heritage I:.

Published in:

Human Genetics, 2003, v. 112, n. 5/6, p. 441, doi. 10.1007/s00439-002-0875-3

By:

Norio, Reijo

Publication type:

Article

Genotyping microsatellite DNA markers at putative disease loci in inbred/multiplex families with respiratory chain complex I deficiency allows rapid identification of a novel nonsense mutation (IVS1nt -1) in the NDUFS4 gene in Leigh syndrome.

Published in:

Human Genetics, 2003, v. 112, n. 5/6, p. 563, doi. 10.1007/s00439-002-0884-2

By:

Bénit, Paule;
Steffann, Julie;
Lebon, Sophie;
Chretien, Dominique;
Kadhom, Noman;
de Lonlay, Pascale;
Goldenberg, Alice;
Dumez, Yves;
Dommergues, Marc;
Rustin, Pierre;
Munnich, Arnold;
Rötig, Agnès

Publication type:

Article

Prediction of clinical outcome with microarray data: a partial least squares discriminant analysis (PLS-DA) approach.

Published in:

Human Genetics, 2003, v. 112, n. 5/6, p. 581, doi. 10.1007/s00439-003-0921-9

By:

Pérez-Enciso, Miguel;
Tenenhaus, Michel

Publication type:

Article

Genetic demography of Antioquia (Colombia) and the Central Valley of Costa Rica.

Published in:

Human Genetics, 2003, v. 112, n. 5/6, p. 534, doi. 10.1007/s00439-002-0899-8

By:

Carvajal-Carmona, Luis G.;
Ophoff, Roel;
Service, Susan;
Hartiala, Jaana;
Molina, Julio;
Leon, Pedro;
Ospina, Jorge;
Bedoya, Gabriel;
Freimer, Nelson;
Ruiz-Linares, Andrés

Publication type:

Article

G. Evers-Kiebooms, M.W. Zoeteweij, P.S. Harper (eds): Prenatal testing for late onset neurogenetic diseases: BIOS Scientific (ISBN 1-8599-6019-7).

Published in:

2003

By:

Tibben, Aad

Publication type:

Book Review

Genetic linkage of Francois-Neetens fleck (mouchetée) corneal dystrophy to chromosome 2q35.

Published in:

Human Genetics, 2003, v. 112, n. 5/6, p. 593, doi. 10.1007/s00439-002-0905-1

By:

Xiaodong Jiao;
Munier, Francis L.;
Schorderet, Daniel F.;
Zografos, Leonidas;
Smith, Janine;
Rubin, Benjamin;
Hejtmancik, J. Fielding

Publication type:

Article

A genome-wide scan for primary open-angle glaucoma (POAG): the Barbados Family Study of Open-Angle Glaucoma.

Published in:

Human Genetics, 2003, v. 112, n. 5/6, p. 600, doi. 10.1007/s00439-003-0910-z

By:

Nemesure, Barbara;
Xiaodong Jiao;
Qimei He;
Leske, M. Cristina;
Suh-Yuh Wu;
Hennis, Anselm;
Mendell, Nancy;
Redman, Joy;
Garchon, Henri-Jean;
Agarwala, Richa;
Schäffer, Alejandro A.;
Hejtmancik, Fielding

Publication type:

Article

PA26 is a candidate gene for heterotaxia in humans: identification of a novel PA26-related gene family in human and mouse.

Published in:

Human Genetics, 2003, v. 112, n. 5/6, p. 573, doi. 10.1007/s00439-003-0917-5

By:

Peeters, H.;
Debeer, P.;
Bairoch, A.;
Wilquet, V.;
Huysmans, C.;
Parthoens, E.;
Fryns, J. P.;
Gewillig, M.;
Nakamura, Y.;
Niikawa, N.;
Van de Ven, W.;
Devriendt, K.

Publication type:

Article

Average age-specific cumulative risk of breast cancer according to type and site of germline mutations in BRCA1 and BRCA2 estimated from multiple-case breast cancer families attending Australian family cancer clinics.

Published in:

Human Genetics, 2003, v. 112, n. 5/6, p. 542, doi. 10.1007/s00439-003-0908-6

By:

Scott, Clare L.;
Jenkins, Mark A.;
Southey, Melissa C.;
Davis, Tracey A.;
Leary, Jennifer A.;
Easton, Douglas F.;
Phillips, Kelly-Anne;
Hopper, John L.

Publication type:

Article

Observation of an excess of fragile-X premutations in a population of males referred with spinocerebellar ataxia.

Published in:

Human Genetics, 2003, v. 112, n. 5/6, p. 619, doi. 10.1007/s00439-003-0939-z

By:

Macpherson, James;
Waghorn, Andrew;
Hammans, Simon;
Jacobs, Patricia

Publication type:

Article

No evidence of fetal DNA persistence in maternal plasma after pregnancy.

Published in:

Human Genetics, 2003, v. 112, n. 5/6, p. 617, doi. 10.1007/s00439-003-0919-3

By:

Smid, Maddalena;
Galbiati, Silvia;
Vassallo, Antonia;
Gambini, Dania;
Ferrari, Augusto;
Viora, Elsa;
Pagliano, Marco;
Restagno, Gabriella;
Ferrari, Maurizio;
Cremonesi, Laura

Publication type:

Article

Genetic analysis of a complex trait in the Utah Genetic Reference Project: a major locus for PTC taste ability on chromosome 7q and a secondary locus on chromosome 16p.

Published in:

Human Genetics, 2003, v. 112, n. 5/6, p. 567, doi. 10.1007/s00439-003-0911-y

By:

Drayna, Dennis;
Coon, Hilary;
Un-Kyung Kim;
Elsner, Tami;
Cromer, Kevin;
Otterud, Brith;
Baird, Lisa;
Peiffer, Andy P.;
Leppert, Mark

Publication type:

Article