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

Results: 11

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
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
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
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
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
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
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
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