Works matching IS 10184813 AND DT 2006 AND VI 14 AND IP 8

Results: 17

Rett syndrome: new clinical and molecular insights.

Published in:

European Journal of Human Genetics, 2006, v. 14, n. 8, p. 896, doi. 10.1038/sj.ejhg.5201580

By:

Williamson, Sarah L.;
Christodoulou, John

Publication type:

Article

Molecular analysis of ANT1, TWINKLE and POLG in patients with multiple deletions or depletion of mitochondrial DNA by a dHPLC-based assay.

Published in:

European Journal of Human Genetics, 2006, v. 14, n. 8, p. 917, doi. 10.1038/sj.ejhg.5201627

By:

Naïmi, Mourad;
Bannwarth, Sylvie;
Procaccio, Vincent;
Pouget, Jean;
Desnuelle, Claude;
Pellissier, Jean-François;
Rötig, Agnes;
Munnich, Arnold;
Calvas, Patrick;
Richelme, Christian;
Jonveaux, Philippe;
Castelnovo, Giovanni;
Simon, Melvin;
Clanet, Michel;
Wallace, Douglas;
Paquis-Flucklinger, Véronique

Publication type:

Article

A locus for sacral/anorectal malformations maps to 6q25.3 in a 0.3 Mb interval region.

Published in:

European Journal of Human Genetics, 2006, v. 14, n. 8, p. 971, doi. 10.1038/sj.ejhg.5201635

By:

Titomanlio, Luigi;
Giurgea, Irina;
Baumann, Clarisse;
Elmaleh, Monique;
Sachs, Philippe;
Chalard, François;
Aboura, Azzedine;
Verloes, Alain

Publication type:

Article

OLR1 gene and coronary artery disease/acute myocardial infarction: replication in an independently collected sample.

Published in:

2006

By:

Novelli, Giuseppe;
Borgiani, Paola;
Mango, Ruggiero;
Romeo, Francesco;
Mehta, Jawahar L.

Publication type:

Letter

Reply to Novelli.

Published in:

2006

By:

Trabetti, Elisabetta;
Biscuola, Michele;
Cavallari, Ugo;
Malerba, Giovanni;
Pasquali, Alessandra;
Girelli, Domenico;
Olivieri, Oliviero;
Martinelli, Nicola;
Corrocher, Roberto;
Pignatti, Pier Franco

Publication type:

Letter

Delineation of the ADULT syndrome phenotype due to arginine 298 mutations of the p63 gene.

Published in:

European Journal of Human Genetics, 2006, v. 14, n. 8, p. 904, doi. 10.1038/sj.ejhg.5201640

By:

Rinne, Tuula;
Spadoni, Emanuela;
Kjaer, Klaus W.;
Danesino, Cesare;
Larizza, Daniela;
Kock, Marianne;
Huoponen, Kirsi;
Savontaus, Marja-Liisa;
Aaltonen, Markku;
Duijf, Pascal;
Brunner, Han G.;
Penttinen, Maila;
van Bokhoven, Hans

Publication type:

Article

A practical guide for your daily activity: Atlas of Metabolic Diseases – Second Edition.

Published in:

2006

By:

Rusu, Cristina

Publication type:

Book Review

A multistep mutation mechanism drives the evolution of the CAG repeat at MJD/SCA3 locus.

Published in:

European Journal of Human Genetics, 2006, v. 14, n. 8, p. 932, doi. 10.1038/sj.ejhg.5201643

By:

Martins, Sandra;
Calafell, Francesc;
Wong, Virginia C N;
Sequeiros, Jorge;
Amorim, António

Publication type:

Article

Variation in ITGB3 is associated with whole-blood serotonin level and autism susceptibility.

Published in:

European Journal of Human Genetics, 2006, v. 14, n. 8, p. 923, doi. 10.1038/sj.ejhg.5201644

By:

Weiss, Lauren A.;
Kosova, Gülüm;
Delahanty, Ryan J.;
Lan Jiang;
Cook, Edwin H.;
Ober, Carole;
Sutcliffe, James S.

Publication type:

Article

Variance components model with disequilibria.

Published in:

European Journal of Human Genetics, 2006, v. 14, n. 8, p. 941, doi. 10.1038/sj.ejhg.5201645

By:

Ao Yuan;
Guanjie Chen;
Qi Yang;
Rotimi, Charles;
Bonney, George

Publication type:

Article

A simple method to localise pleiotropic susceptibility loci using univariate linkage analyses of correlated traits.

Published in:

European Journal of Human Genetics, 2006, v. 14, n. 8, p. 953, doi. 10.1038/sj.ejhg.5201646

By:

Ferreira, Manuel A. R.;
Visscher, Peter M.;
Martin, Nicholas G.;
Duffy, David L.

Publication type:

Article

Y-chromosome diversity in Sweden – A long-time perspective.

Published in:

European Journal of Human Genetics, 2006, v. 14, n. 8, p. 963, doi. 10.1038/sj.ejhg.5201651

By:

Karlsson, Andreas O.;
Wallerström, Thomas;
Götherström, Anders;
Holmlund, Gunilla

Publication type:

Article

Genetic testing in Italy, year 2004.

Published in:

European Journal of Human Genetics, 2006, v. 14, n. 8, p. 911, doi. 10.1038/sj.ejhg.5201653

By:

Dallapiccola, Bruno;
Torrente, Isabella;
Morena, Arnaldo;
Dagna-Bricarelli, Franca;
Mingarelli, Rita

Publication type:

Article

Optimal genotype determination in highly multiplexed SNP data.

Published in:

2006

By:

Moorhead, Martin;
Hardenbol, Paul;
Siddiqui, Farooq;
Falkowski, Matthew;
Bruckner, Carsten;
Ireland, James;
Jones, Hywel B.;
Jain, Maneesh;
Willis, Thomas D.;
Faham, Malek

Publication type:

Correction Notice

Cystic Fibrosis: Using genetic association to identify modifiers of disease variability in cystic fibrosis.

Published in:

European Journal of Human Genetics, 2006, v. 14, n. 8, p. 890, doi. 10.1038/sj.ejhg.5201656

By:

Cutting, Garry R.

Publication type:

Article

Association Studies: A genome-wide association approach to mapping the genetic determinants of the transcriptome in human populations.

Published in:

European Journal of Human Genetics, 2006, v. 14, n. 8, p. 891, doi. 10.1038/sj.ejhg.5201657

By:

Schadt, Eric E.

Publication type:

Article

Practical genetics series introduction: Information overload, a double-edged sword.

Published in:

2006

By:

Beales, Philip L.

Publication type:

Editorial