Works matching IS 03406717 AND DT 2008 AND VI 124 AND IP 1

Results: 11

The ACADS gene variation spectrum in 114 patients with short-chain acyl-CoA dehydrogenase (SCAD) deficiency is dominated by missense variations leading to protein misfolding at the cellular level.

Published in:

Human Genetics, 2008, v. 124, n. 1, p. 43, doi. 10.1007/s00439-008-0521-9

By:

Pedersen, Christina B.;
Kølvraa, Steen;
Kølvraa, Agnete;
Stenbroen, Vibeke;
Kjeldsen, Margrethe;
Ensenauer, Regina;
Tein, Ingrid;
Matern, Dietrich;
Rinaldo, Piero;
Vianey-Saban, Christine;
Ribes, Antonia;
Lehnert, Willy;
Christensen, Ernst;
Corydon, Thomas;
Andresen, Brage;
Vang, Søren;
Bolund, Lars;
Vockley, Jerry;
Bross, Peter;
Gregersen, Niels

Publication type:

Article

A genome-wide exploration suggests an oligogenic model of inheritance for the TAFI activity and its antigen levels.

Published in:

Human Genetics, 2008, v. 124, n. 1, p. 81, doi. 10.1007/s00439-008-0527-3

By:

Sabater-Lleal, Maria;
Buil, Alfonso;
Souto, Juan;
Alamsy, Laura;
Borrell, Montserrat;
Lathrop, Mark;
Blangero, John;
Fontcuberta, Jordi;
Soria, José

Publication type:

Article

Calbindin 1, fibroblast growth factor 20, and α-synuclein in sporadic Parkinson’s disease.

Published in:

Human Genetics, 2008, v. 124, n. 1, p. 89, doi. 10.1007/s00439-008-0525-5

By:

Mizuta, Ikuko;
Tsunoda, Tatsuhiko;
Satake, Wataru;
Nakabayashi, Yuko;
Watanabe, Masahiko;
Takeda, Atsushi;
Hasegawa, Kazuko;
Nakashima, Kenji;
Yamamoto, Mitsutoshi;
Hattori, Nobutaka;
Murata, Miho;
Toda, Tatsushi

Publication type:

Article

Hereditary breast cancer: new genetic developments, new therapeutic avenues.

Published in:

Human Genetics, 2008, v. 124, n. 1, p. 31, doi. 10.1007/s00439-008-0529-1

By:

Campeau, Philippe M.;
Foulkes, William D.;
Tischkowitz, Marc D.

Publication type:

Article

Replication of association between ELAVL4 and Parkinson disease: the GenePD study.

Published in:

Human Genetics, 2008, v. 124, n. 1, p. 95, doi. 10.1007/s00439-008-0526-4

By:

DeStefano, Anita L.;
Latourelle, Jeanne;
Lew, Mark F.;
Suchowersky, Oksana;
Klein, Christine;
Golbe, Lawrence I.;
Mark, Margery H.;
Growdon, John H.;
Wooten, G. Frederick;
Watts, Ray;
Guttman, Mark;
Racette, Brad A.;
Perlmutter, Joel S.;
Marlor, Lynn;
Shill, Holly A.;
Singer, Carlos;
Goldwurm, Stefano;
Pezzoli, Gianni;
Saint-Hilaire, Marie H.;
Hendricks, Audrey E.

Publication type:

Article

Novel microdeletion syndromes detected by chromosome microarrays.

Published in:

Human Genetics, 2008, v. 124, n. 1, p. 1, doi. 10.1007/s00439-008-0513-9

By:

Slavotinek, Anne M.

Publication type:

Article

Exploiting the proteome to improve the genome-wide genetic analysis of epistasis in common human diseases.

Published in:

Human Genetics, 2008, v. 124, n. 1, p. 19, doi. 10.1007/s00439-008-0522-8

By:

Pattin, Kristine A.;
Moore, Jason H.

Publication type:

Article

Genetic variation in angiotensin-converting enzyme 2 gene is associated with extent of left ventricular hypertrophy in hypertrophic cardiomyopathy.

Published in:

Human Genetics, 2008, v. 124, n. 1, p. 57, doi. 10.1007/s00439-008-0524-6

By:

van der Merwe, Lize;
Cloete, Ruben;
Revera, Miriam;
Heradien, Marshall;
Goosen, Althea;
Corfield, Valerie A.;
Brink, Paul A.;
Moolman-Smook, Johanna C.

Publication type:

Article

Evaluation of a SNP map of 6q24–27 confirms diabetic nephropathy loci and identifies novel associations in type 2 diabetes patients with nephropathy from an African-American population.

Published in:

Human Genetics, 2008, v. 124, n. 1, p. 63, doi. 10.1007/s00439-008-0523-7

By:

Leak, Tennille S.;
Mychaleckyj, Josyf C.;
Smith, Shelly G.;
Keene, Keith L.;
Gordon, Candace J.;
Hicks, Pamela J.;
Freedman, Barry I.;
Bowden, Donald W.;
Sale, Michèle M.

Publication type:

Article

Chromosomal map of human brain malformations.

Published in:

Human Genetics, 2008, v. 124, n. 1, p. 73, doi. 10.1007/s00439-008-0528-2

By:

Tyshchenko, Nataliya;
Lurie, Iosif;
Schinzel, Albert

Publication type:

Article

Type 2 diabetes susceptibility loci in the Ashkenazi Jewish population.

Published in:

Human Genetics, 2008, v. 124, n. 1, p. 101, doi. 10.1007/s00439-008-0520-x

By:

Bronstein, Michal;
Pisanté, Anne;
Yakir, Benjamin;
Darvasi, Ariel

Publication type:

Article