Works matching IS 10184813 AND DT 2005 AND VI 13 AND IP 10

Results: 13

Dimensional phenotypic analysis and functional categorisation of mutations reveal novel genotype–phenotype associations in Rett syndrome.

Published in:

European Journal of Human Genetics, 2005, v. 13, n. 10, p. 1121, doi. 10.1038/sj.ejhg.5201471

By:

Charman, Tony;
Neilson, Tracey C. S.;
Mash, Veronica;
Archer, Hayley;
Gardiner, Mary T.;
Knudsen, Gun P. S.;
McDonnell, Aoibhinn;
Perry, Jacqueline;
Whatley, Sharon D.;
Bunyan, David J.;
Ravn, Kirstine;
Mount, Rebecca H.;
Hastings, Richard P.;
Hulten, Maj;
Ørstavik, Karen Helene;
Reilly, Sheena;
Cass, Hilary;
Clarke, Angus;
Kerr, Alison M.;
Bailey, Mark E. S.

Publication type:

Article

Early onset seizures and Rett-like features associated with mutations in CDKL5.

Published in:

European Journal of Human Genetics, 2005, v. 13, n. 10, p. 1113, doi. 10.1038/sj.ejhg.5201451

By:

Evans, Julie C.;
Archer, Hayley L.;
Colley, James P.;
Ravn, Kirstine;
Nielsen, Jytte Bieber;
Kerr, Alison;
Williams, Elizabeth;
Christodoulou, John;
G&écz, Jozef;
Jardine, Philip E.;
Wright, Michael J.;
Pilz, Daniela T.;
Lazarou, Lazarus;
Cooper, David N.;
Sampson, Julian R.;
Butler, Rachel;
Whatley, Sharon D.;
Clarke, Angus J.

Publication type:

Article

Meta-analysis of four new genome scans for lipid parameters and analysis of positional candidates in positive linkage regions.

Published in:

European Journal of Human Genetics, 2005, v. 13, n. 10, p. 1143, doi. 10.1038/sj.ejhg.5201466

By:

Heijmans, Bastiaan T.;
Beekman, Marian;
Putter, Hein;
Lakenberg, Nico;
van der Wijk, Henk Jan;
Whitfield, John B.;
Posthuma, Dani&ëlle;
Pedersen, Nancy L.;
Martin, Nicholas G.;
Boomsma, Dorret I.;
Slagboom, P. Eline

Publication type:

Article

No evidence for an association between extreme longevity and Microsomal Transfer Protein polymorphisms in a longitudinal study of 1651 nonagenarians.

Published in:

European Journal of Human Genetics, 2005, v. 13, n. 10, p. 1154, doi. 10.1038/sj.ejhg.5201468

By:

Bathum, Lise;
Christiansen, Lene;
Qihua Tan;
Vaupel, James;
Jeune, Bernard;
Christensen, Kaare

Publication type:

Article

Effect of the APOC3 Sst I SNP on fasting triglyceride levels in men heterozygous for the LPL P207L deficiency.

Published in:

European Journal of Human Genetics, 2005, v. 13, n. 10, p. 1159, doi. 10.1038/sj.ejhg.5201469

By:

Garenc, Christophe;
Couillard, Charles;
Laflamme, Nathalie;
Cadelis, Fran&çois;
Gagn&é, Claude;
Couture, Patrick;
Julien, Pierre;
Bergeron, Jean

Publication type:

Article

Mosaics of ancient mitochondrial DNA: positive indicators of nonauthenticity.

Published in:

European Journal of Human Genetics, 2005, v. 13, n. 10, p. 1106, doi. 10.1038/sj.ejhg.5201476

By:

Bandelt, Hans-J&ürgen

Publication type:

Article

Genetic determinants of plasma HDL-cholesterol levels in familial hypercholesterolemia.

Published in:

European Journal of Human Genetics, 2005, v. 13, n. 10, p. 1137, doi. 10.1038/sj.ejhg.5201467

By:

van Aalst-Cohen, Emily S.;
Jansen, Angelique C. M.;
Boekholdt, S. Matthijs;
Tanck, Michael W. T.;
Fontecha, Marcel R.;
Cheng, Suzanne;
Jia Li;
Defesche, Joep C.;
Kuivenhoven, Jan Albert;
Kastelein, John J. P.

Publication type:

Article

Cancer genetics: Finding the right mix.

Published in:

European Journal of Human Genetics, 2005, v. 13, n. 10, p. 1099, doi. 10.1038/sj.ejhg.5201477

By:

Boehm, Jesse S.;
Hahn, William C.

Publication type:

Article

Demography: Peopling the Americas.

Published in:

European Journal of Human Genetics, 2005, v. 13, n. 10, p. 1100, doi. 10.1038/sj.ejhg.5201481

By:

Nielsen, Rasmus

Publication type:

Article

Mutations in the known genes are not the major cause of MED; distinctive phenotypic entities among patients with no identified mutations.

Published in:

2005

By:

Jakkula, Eveliina;
M&äkitie, Outi;
Czarny-Ratajczak, Malwina;
Jackson, Gail C.;
Damignani, Rita;
Susic, Miki;
Briggs, Michael D.;
Cole, William G.;
Ala-Kokko, Leena

Publication type:

Correction Notice

Duplications and copy number variants of 8p23.1 are cytogenetically indistinguishable but distinct at the molecular level.

Published in:

European Journal of Human Genetics, 2005, v. 13, n. 10, p. 1131, doi. 10.1038/sj.ejhg.5201475

By:

Barber, John C. K.;
Maloney, Viv;
Hollox, Edward J.;
Stuke-Sontheimer, Annegret;
du Bois, Gabi;
Daumiller, Eva;
Klein-Vogler, Ute;
Dufke, Andreas;
Armour, John A. L.;
Liehr, Thomas

Publication type:

Article

Biological clock: Biological clocks may modulate drug addiction.

Published in:

European Journal of Human Genetics, 2005, v. 13, n. 10, p. 1101, doi. 10.1038/sj.ejhg.5201483

By:

Yuferov, Vadim;
Butelman, Eduardo R.;
Kreek, Mary J.

Publication type:

Article

Research network: EuroGentest – a European Network of Excellence aimed at harmonizing genetic testing services.

Published in:

European Journal of Human Genetics, 2005, v. 13, n. 10, p. 1103, doi. 10.1038/sj.ejhg.5201484

By:

Cassiman, Jean-Jacques

Publication type:

Article