Works matching IS 10184813 AND DT 2008 AND VI 16 AND IP 6

Results: 17

Hereditary hemorrhagic telangiectasia: evidence for regional founder effects of ACVRL1 mutations in French and Italian patients.

Published in:

European Journal of Human Genetics, 2008, v. 16, n. 6, p. 742, doi. 10.1038/ejhg.2008.3

By:

Lesca, Gaetan;
Genin, Emmanuelle;
Blachier, Claire;
Olivieri, Carla;
Coulet, Florence;
Brunet, Guy;
Dupuis-Girod, Sophie;
Buscarini, Elisabetta;
Soubrier, Florent;
Calender, Alain;
Danesino, Cesare;
Giraud, Sophie;
Plauchu, Henri

Publication type:

Article

Homozygosity mapping in a family presenting with schizophrenia, epilepsy and hearing impairment.

Published in:

European Journal of Human Genetics, 2008, v. 16, n. 6, p. 750, doi. 10.1038/ejhg.2008.11

By:

Knight, Helen M.;
Maclean, Alan;
Irfan, Muhammad;
Naeem, Farooq;
Cass, Stephen;
Pickard, Benjamin S.;
Muir, Walter J.;
Blackwood, Douglas H. R.;
Ayub, Muhammad

Publication type:

Article

Chromosomes came first: First Years of Human Chromosomes. The Beginnings of Human Cytogenetics.

Published in:

2008

By:

Schinzel, Albert

Publication type:

Book Review

Building genetic medicine, a tale of two countries: Building Genetic Medicine.

Published in:

2008

By:

Jacquemont, Sébastien

Publication type:

Book Review

Genetic ancestry and income are associated with dengue hemorrhagic fever in a highly admixed population.

Published in:

European Journal of Human Genetics, 2008, v. 16, n. 6, p. 762, doi. 10.1038/ejhg.2008.4

By:

Blanton, Ronald E.;
Silva, Luciano K.;
Morato, Vanessa G.;
Parrado, Antonio R.;
Dias, Juarez P.;
Melo, Paulo R. S.;
Reis, Eliana A. G.;
Goddard, Katrina A. B.;
Nunes, Márcio R. T.;
Rodrigues, Sueli G.;
Vasconcelos, Pedro F. C.;
Castro, Jesuina M.;
Reis, Mitermayer G.;
Barreto, Maurício L.;
Teixeira, M. Glória

Publication type:

Article

Molecular cytogenetic characterization of terminal 14q32 deletions in two children with an abnormal phenotype and corpus callosum hypoplasia.

Published in:

European Journal of Human Genetics, 2008, v. 16, n. 6, p. 680, doi. 10.1038/sj.ejhg.5201977

By:

Schneider, Anouck;
Benzacken, Brigitte;
Guichet, Agnès;
Verloes, Alain;
Bonneau, Dominique;
Collot, Nathalie;
Dastot-Le-Moal, Florence;
Goossens, Michel;
Taine, Laurence;
Landais, Emilie;
Gaillard, Dominique;
Doco-Fenzy, Martine

Publication type:

Article

A spatial analysis of genetic structure of human populations in China reveals distinct difference between maternal and paternal lineages.

Published in:

European Journal of Human Genetics, 2008, v. 16, n. 6, p. 705, doi. 10.1038/sj.ejhg.5201998

By:

Xue, Fuzhong;
Wang, Yi;
Xu, Shuhua;
Zhang, Feng;
Wen, Bo;
Wu, Xuesen;
Lu, Ming;
Deka, Ranjan;
Qian, Ji;
Jin, Li

Publication type:

Article

Variable selection in logistic regression for detecting SNP–SNP interactions: the rheumatoid arthritis example.

Published in:

European Journal of Human Genetics, 2008, v. 16, n. 6, p. 735, doi. 10.1038/sj.ejhg.5202010

By:

Lin, Hui-Yi;
Desmond, Renee;
Bridges Jr., S. Louis;
Soong, Seng-Jaw

Publication type:

Article

To what extent do scans of non-synonymous SNPs complement denser genome-wide association studies?

Published in:

European Journal of Human Genetics, 2008, v. 16, n. 6, p. 718, doi. 10.1038/sj.ejhg.5202011

By:

Evans, David M.;
Barrett, Jeffrey C.;
Cardon, Lon R.

Publication type:

Article

Mutation screening of the Ectodysplasin-A receptor gene EDAR in hypohidrotic ectodermal dysplasia.

Published in:

European Journal of Human Genetics, 2008, v. 16, n. 6, p. 673, doi. 10.1038/sj.ejhg.5202012

By:

van der Hout, Annemarie H;
Oudesluijs, Grétel G.;
Venema, Andrea;
Verheij, Joke B. G. M.;
Mol, Bart G. J.;
Rump, Patrick;
Brunner, Han G.;
Vos, Yvonne J.;
van Essen, Anthonie J.

Publication type:

Article

The Genome The genome: you gain some, you lose some.

Published in:

2008

By:

Breuning, Martyn H.

Publication type:

Editorial

Population Genomics: The Public Population Project in Genomics (P<sup>3</sup>G): a proof of concept?

Published in:

2008

By:

Knoppers, B. M.;
Fortier, I.;
Legault, D.;
Burton, P.

Publication type:

Editorial

Fragile X syndrome.

Published in:

European Journal of Human Genetics, 2008, v. 16, n. 6, p. 666, doi. 10.1038/ejhg.2008.61

By:

Garber, Kathryn B.;
Visootsak, Jeannie;
Warren, Stephen T.

Publication type:

Article

XPC polymorphisms play a role in tissue-specific carcinogenesis: a meta-analysis.

Published in:

European Journal of Human Genetics, 2008, v. 16, n. 6, p. 724, doi. 10.1038/ejhg.2008.6

By:

Francisco, Guilherme;
Menezes, Paulo Rossi;
Eluf-Neto, Jose;
Chammas, Roger

Publication type:

Article

Sequence analysis of 21 genes located in the Kartagener syndrome linkage region on chromosome 15q.

Published in:

European Journal of Human Genetics, 2008, v. 16, n. 6, p. 688, doi. 10.1038/ejhg.2008.5

By:

Geremek, Maciej;
Schoenmaker, Frederieke;
Zietkiewicz, Ewa;
Pogorzelski, Andrzej;
Diehl, Scott;
Wijmenga, Cisca;
Witt, Michal

Publication type:

Article

Potential association of INSIG2 rs7566605 polymorphism with body weight in a Chinese subpopulation.

Published in:

European Journal of Human Genetics, 2008, v. 16, n. 6, p. 759, doi. 10.1038/ejhg.2008.8

By:

Ling Yang;
Ying Wu;
Huaixin Li;
Zhijie Yu;
Xin Li;
Yong Liu;
Xu Lin;
Yan Chen

Publication type:

Article

Two patients with balanced translocations and autistic disorder: CSMD3 as a candidate gene for autism found in their common 8q23 breakpoint area.

Published in:

European Journal of Human Genetics, 2008, v. 16, n. 6, p. 696, doi. 10.1038/ejhg.2008.7

By:

Floris, Chiara;
Rassu, Stefania;
Boccone, Loredana;
Gasperini, Daniela;
Cao, Antonio;
Crisponi, Laura

Publication type:

Article