Works matching IS 10184813 AND DT 2006 AND VI 14 AND IP 11

Results: 13

Increased skewing of X chromosome inactivation in Rett syndrome patients and their mothers.

Published in:

European Journal of Human Genetics, 2006, v. 14, n. 11, p. 1189, doi. 10.1038/sj.ejhg.5201682

By:

Knudsen, Gun Peggy S.;
Neilson, Tracey C. S.;
Pedersen, June;
Kerr, Alison;
Schwartz, Marianne;
Hulten, Maj;
Bailey, Mark E. S.;
Ørstavik, Karen Helene

Publication type:

Article

Epigenetics or ephemeral genetics?

Published in:

2006

By:

Senn, Stephen

Publication type:

Letter

Detection of a large genomic deletion in the pancreatic secretory trypsin inhibitor (SPINK1) gene.

Published in:

European Journal of Human Genetics, 2006, v. 14, n. 11, p. 1204, doi. 10.1038/sj.ejhg.5201684

By:

Masson, Emmanuelle;
Le Maréchal, Cédric;
Chen, Jian-Min;
Frebourg, Thierry;
Lerebours, Eric;
Férec, Claude

Publication type:

Article

Reply to Senn.

Published in:

European Journal of Human Genetics, 2006, v. 14, n. 11, p. 1149, doi. 10.1038/sj.ejhg.5201685

By:

Bygren, Lars Olov;
Kaati, Gunnar;
Edvinsson, Sören;
Pembrey, Marcus E.

Publication type:

Article

A fascination with chromosome rescue in uniparental disomy: Mendelian recessive outlaws and imprinting copyrights infringements.

Published in:

European Journal of Human Genetics, 2006, v. 14, n. 11, p. 1158, doi. 10.1038/sj.ejhg.5201619

By:

Engel, Eric

Publication type:

Article

The challenges of Proteus syndrome: diagnosis and management.

Published in:

European Journal of Human Genetics, 2006, v. 14, n. 11, p. 1151, doi. 10.1038/sj.ejhg.5201638

By:

Biesecker, Leslie

Publication type:

Article

The value of gene-based selection of tag SNPs in genome-wide association studies.

Published in:

European Journal of Human Genetics, 2006, v. 14, n. 11, p. 1209, doi. 10.1038/sj.ejhg.5201678

By:

Wiltshire, Steven;
de Bakker, Paul I. W.;
Daly, Mark J.

Publication type:

Article

A functional candidate screen for coeliac disease genes.

Published in:

European Journal of Human Genetics, 2006, v. 14, n. 11, p. 1215, doi. 10.1038/sj.ejhg.5201687

By:

Curley, Christine R.;
Monsuur, Alienke J.;
Wapenaar, Martin C.;
Rioux, John D.;
Wijmenga, Cisca

Publication type:

Article

Pitfalls of homozygosity mapping: an extended consanguineous Bardet–Biedl syndrome family with two mutant genes (BBS2, BBS10), three mutations, but no triallelism.

Published in:

European Journal of Human Genetics, 2006, v. 14, n. 11, p. 1195, doi. 10.1038/sj.ejhg.5201688

By:

Laurier, Virginie;
Stoetzel, Corinne;
Muller, Jean;
Thibault, Christelle;
Corbani, Sandra;
Jalkh, Nadine;
Salem, Nabiha;
Chouery, Eliane;
Poch, Olivier;
Licaire, Serge;
Danse, Jean-Marc;
Amati-Bonneau, Patricia;
Bonneau, Dominique;
Mégarbané, André;
Mandel, Jean-Louis;
Dollfus, Hélène

Publication type:

Article

A test of homogeneity of Hardy-Weinberg disequilibrium across strata.

Published in:

European Journal of Human Genetics, 2006, v. 14, n. 11, p. 1223, doi. 10.1038/sj.ejhg.5201689

By:

Yin, Xiao-Lin;
Ma, Wen-Qing;
Tang, Man-Lai;
Guo, Jianhua

Publication type:

Article

The emergence of an ethical duty to disclose genetic research results: international perspectives.

Published in:

European Journal of Human Genetics, 2006, v. 14, n. 11, p. 1170, doi. 10.1038/sj.ejhg.5201690

By:

Knoppers, Bartha Maria;
Joly, Yann;
Simard, Jacques;
Durocher, Francine

Publication type:

Article

Gene mapping: Balance among quality, quantity and cost of data in the era of whole-genome mapping for complex disease.

Published in:

European Journal of Human Genetics, 2006, v. 14, n. 11, p. 1147, doi. 10.1038/sj.ejhg.5201693

By:

Gordon, Derek

Publication type:

Article

DISCERN-Genetics: quality criteria for information on genetic testing.

Published in:

European Journal of Human Genetics, 2006, v. 14, n. 11, p. 1179, doi. 10.1038/sj.ejhg.5201701

By:

Shepperd, Sasha;
Farndon, Peter;
Grainge, Vivian;
Oliver, Sandy;
Parker, Michael;
Perera, Rafael;
Bedford, Helen;
Elliman, David;
Kent, Alastair;
Rose, Peter

Publication type:

Article