Works matching IS 10184813 AND DT 2005 AND VI 13 AND IP 6

Results: 14

Interaction of the LMX1B and PAX2 gene products suggests possible molecular basis of differential phenotypes in Nail-Patella syndrome.

Published in:

European Journal of Human Genetics, 2005, v. 13, n. 6, p. 789, doi. 10.1038/sj.ejhg.5201405

By:

Marini, Monica;
Giacopelli, Francesca;
Seri, Marco;
Ravazzolo, Roberto

Publication type:

Article

Twin Research: Exploring female sexuality.

Published in:

European Journal of Human Genetics, 2005, v. 13, n. 6, p. 696, doi. 10.1038/sj.ejhg.5201420

By:

Boomsma, Dorret I

Publication type:

Article

Kabuki syndrome: new ocular findings but no evidence of 8p22-p23.1 duplications in a clinically defined cohort.

Published in:

European Journal of Human Genetics, 2005, v. 13, n. 6, p. 716, doi. 10.1038/sj.ejhg.5201377

By:

Turner, Claire;
Lachlan, Katherine;
Amerasinghe, Nishani;
Hodgkins, Peter;
Maloney, Viv;
Barber, John;
Temple, I Karen

Publication type:

Article

Homocysteine levels-before and after methionine loading-in 51 Dutch families.

Published in:

European Journal of Human Genetics, 2005, v. 13, n. 6, p. 753, doi. 10.1038/sj.ejhg.5201389

By:

den Heijer, Martin;
Graafsma, Sietze;
Soon Young Lee;
Van Landeghem, Bart;
Kluijtmans, Leo;
Verhoef, Petra;
Beaty, Terri H;
Blom, Henk

Publication type:

Article

Complex trait mapping in isolated populations: Are specific statistical methods required?

Published in:

European Journal of Human Genetics, 2005, v. 13, n. 6, p. 698, doi. 10.1038/sj.ejhg.5201400

By:

Bourgain, Catherine;
Génin, Emmanuelle

Publication type:

Article

Mutational analysis of the TSC1 and TSC2 genes in a diagnostic setting: genotype-phenotype correlations and comparison of diagnostic DNA techniques in Tuberous Sclerosis Complex.

Published in:

European Journal of Human Genetics, 2005, v. 13, n. 6, p. 731, doi. 10.1038/sj.ejhg.5201402

By:

Sancak, Ozgur;
Nellist, Mark;
Goedbloed, Miriam;
Elfferich, Peter;
Wouters, Cokkie;
Maat-Kievit, Anneke;
Zonnenberg, Bernard;
Verhoef, Senno;
Halley, Dicky;
van den Ouweland, Ans

Publication type:

Article

A new CARD15 mutation in Blau syndrome.

Published in:

European Journal of Human Genetics, 2005, v. 13, n. 6, p. 742, doi. 10.1038/sj.ejhg.5201404

By:

van Duist, Marjan M;
Albrecht, Mario;
Podswiadek, Marta;
Giachino, Daniela;
Lengauer, Thomas;
Punzi, Leonardo;
De Marchi, Mario

Publication type:

Article

Fine mapping of a schizophrenia susceptibility locus at chromosome 6q23: increased evidence for linkage and reduced linkage interval.

Published in:

European Journal of Human Genetics, 2005, v. 13, n. 6, p. 763, doi. 10.1038/sj.ejhg.5201406

By:

Adi Levi;
Kohn, Yoav;
Kanyas, Kyra;
Amann, Daniela;
Chi-Un Pae;
Hamdan, Adnan;
Segman, Ronnen H;
Avidan, Nili;
Karni, Osnat;
Korner, Mira;
Tae-Yun Jun;
Beckmann, Jacques S;
Macciardi, Fabio;
Lerer, Bernard

Publication type:

Article

Proopiomelanocortin gene variants are associated with serum leptin and body fat in a normal female population.

Published in:

European Journal of Human Genetics, 2005, v. 13, n. 6, p. 772, doi. 10.1038/sj.ejhg.5201407

By:

Yuanneng Chen;
Snieder, Harold;
Xiaoling Wang;
Kaviya, Bhavini;
McCaffrey, Clare;
Spector, Tim D;
Carter, Nicholas D;
O'Dell, Sandra D

Publication type:

Article

Most DC-SIGNR transcripts at mucosal HIV transmission sites are alternatively spliced isoforms.

Published in:

European Journal of Human Genetics, 2005, v. 13, n. 6, p. 707, doi. 10.1038/sj.ejhg.5201409

By:

Huanliang Liu;
Hladik, Florian;
Andrus, Thomas;
Sakchalathorn, Polachai;
Lentz, Gretchen M;
Fialkow, Michael F;
Corey, Lawrence;
McElrath, M Juliana;
Tuofu Zhu

Publication type:

Article

Univariate and bivariate variance component linkage analysis of a whole-genome scan for loci contributing to bone mineral density.

Published in:

European Journal of Human Genetics, 2005, v. 13, n. 6, p. 781, doi. 10.1038/sj.ejhg.5201411

By:

Devoto, Marcella;
Spotila, Loretta D;
Stabley, Deborah L;
Wharton, Gina N;
Rydbeck, Halfdan;
Korkko, Jarmo;
Kosich, Richard;
Prockop, Darwin;
Tenenhouse, Alan;
Sol-Church, Katia

Publication type:

Article

Cancer Genetics: TSC1, TSC2, TSC3? or mosaicism?

Published in:

European Journal of Human Genetics, 2005, v. 13, n. 6, p. 695, doi. 10.1038/sj.ejhg.5201412

By:

Kwiatkowski, David

Publication type:

Article

Protein studies in dysferlinopathy patients using llama-derived antibody fragments selected by phage display.

Published in:

European Journal of Human Genetics, 2005, v. 13, n. 6, p. 721, doi. 10.1038/sj.ejhg.5201414

By:

Huang, Yanchao;
Verheesen, Peter;
Roussis, Andreas;
Frankhuizen, Wendy;
Ginjaar, Ieke;
Haldane, Faye;
Laval, Steve;
Anderson, Louise V B;
Verrips, Theo;
Frants, Rune R;
de Haard, Hans;
Bushby, Kate;
den Dunnen, Johan;
x00E8;re M#van der Maarel, Silv&

Publication type:

Article

Mitochondrial DNA haplogroup K is associated with a lower risk of Parkinson's disease in Italians.

Published in:

European Journal of Human Genetics, 2005, v. 13, n. 6, p. 748, doi. 10.1038/sj.ejhg.5201425

By:

Ghezzi, Daniele;
Marelli, Cecilia;
Achilli, Alessandro;
Goldwurm, Stefano;
Pezzoli, Gianni;
Barone, Paolo;
Pellecchia, Maria Teresa;
Stanzione, Paolo;
Brusa, Livia;
Bentivoglio, Anna Rita;
Bonuccelli, Ubaldo;
Petrozzi, Lucia;
Abbruzzese, Giovanni;
Marchese, Roberta;
Cortelli, Pietro;
Grimaldi, Daniela;
Martinelli, Paolo;
Ferrarese, Carlo;
Garavaglia, Barbara;
Sangiorgi, Simonetta

Publication type:

Article