Works matching IS 10184813 AND DT 2008 AND VI 16 AND IP 10

Results: 20

Gene–environment interactions for complex traits: definitions, methodological requirements and challenges.

Published in:

European Journal of Human Genetics, 2008, v. 16, n. 10, p. 1164, doi. 10.1038/ejhg.2008.106

By:

Dempfle, Astrid;
Scherag, André;
Hein, Rebecca;
Beckmann, Lars;
Chang-Claude, Jenny;
Schäfer, Helmut

Publication type:

Article

Northwest Siberian Khanty and Mansi in the junction of West and East Eurasian gene pools as revealed by uniparental markers.

Published in:

European Journal of Human Genetics, 2008, v. 16, n. 10, p. 1254, doi. 10.1038/ejhg.2008.101

By:

Pimenoff, Ville N.;
Comas, David;
Palo, Jukka U.;
Vershubsky, Galina;
Kozlov, Andrew;
Sajantila, Antti

Publication type:

Article

The effect of pedigree structure on detection of deletions and other null alleles.

Published in:

European Journal of Human Genetics, 2008, v. 16, n. 10, p. 1225, doi. 10.1038/ejhg.2008.75

By:

Johansson, Anna M.;
Säll, Torbjörn

Publication type:

Article

The polymorphisms of protein-tyrosine phosphatase receptor-type delta gene and its association with pediatric asthma in the Taiwanese population.

Published in:

European Journal of Human Genetics, 2008, v. 16, n. 10, p. 1283, doi. 10.1038/ejhg.2008.79

By:

Shyh-Dar Shyur;
Jiu-Yao Wang;
Cherry Guan-Ju Lin;
Ya-Hsin Hsiao;
Ya-Huei Liou;
Ying-Jye Wu;
Lawrence Shih-Hsin Wu

Publication type:

Article

Victor McKusick, 1921–2008: the founder of medical genetics as we know it.

Published in:

2008

By:

Romeo, Giovanni

Publication type:

Obituary

Regulations and practices of genetic counselling in 38 European countries: the perspective of national representatives.

Published in:

European Journal of Human Genetics, 2008, v. 16, n. 10, p. 1208, doi. 10.1038/ejhg.2008.93

By:

Rantanen, Elina;
Hietala, Marja;
Kristoffersson, Ulf;
Nippert, Irmgard;
Schmidtke, Jörg;
Sequeiros, Jorge;
Kääriäinen, Helena

Publication type:

Article

A homoplasmic mtDNA variant can influence the phenotype of the pathogenic m.7472Cins MTTS1 mutation: are two mutations better than one?

Published in:

European Journal of Human Genetics, 2008, v. 16, n. 10, p. 1265, doi. 10.1038/ejhg.2008.65

By:

Swalwell, Helen;
Blakely, Emma L.;
Sutton, Ruth;
Tonska, Kasia;
Elstner, Matthias;
Langping He;
Taivassalo, Tanja;
Burns, Dennis K.;
Turnbull, Douglass M.;
Haller, Ronald G.;
Davidson, Mercy M.;
Taylor, Robert W.

Publication type:

Article

Position effect leading to haploinsufficiency in a mosaic ring chromosome 14 in a boy with autism.

Published in:

European Journal of Human Genetics, 2008, v. 16, n. 10, p. 1187, doi. 10.1038/ejhg.2008.71

By:

Castermans, Dries;
Thienpont, Bernard;
Volders, Karolien;
Crepel, An;
Vermeesch, Joris R.;
Schrander-Stumpel, Connie T.;
Van de Ven, Wim J. M.;
Steyaert, Jean G.;
Creemers, John W. M.;
Devriendt, Koen

Publication type:

Article

A missense mutation in ALDH18A1, encoding Δ<sup>1</sup>-pyrroline-5-carboxylate synthase (P5CS), causes an autosomal recessive neurocutaneous syndrome.

Published in:

European Journal of Human Genetics, 2008, v. 16, n. 10, p. 1176, doi. 10.1038/ejhg.2008.91

By:

Bicknell, Louise S.;
Pitt, James;
Aftimos, Salim;
Ramadas, Ram;
Maw, Marion A.;
Robertson, Stephen P.

Publication type:

Article

Confirmation of the genetic association between the U2AF homology motif (UHM) kinase 1 (UHMK1) gene and schizophrenia on chromosome 1q23.3.

Published in:

European Journal of Human Genetics, 2008, v. 16, n. 10, p. 1275, doi. 10.1038/ejhg.2008.76

By:

Puri, Vinay;
McQuillin, Andrew;
Datta, Susmita;
Choudhury, Khalid;
Pimm, Jonathan;
Thirumalai, Srinivasa;
Krasucki, Robert;
Lawrence, Jacob;
Quested, Digby;
Bass, Nicholas;
Crombie, Caroline;
Fraser, Gillian;
Walker, Nicholas;
Moorey, Helen;
Ray, Manaan Kar;
Sule, Akeem;
Curtis, David;
St Clair, David;
Gurling, Hugh

Publication type:

Article

Frequent mutations in the 3′-untranslated region of IFNGR1 lack functional impairment in microsatellite-unstable colorectal tumours.

Published in:

European Journal of Human Genetics, 2008, v. 16, n. 10, p. 1235, doi. 10.1038/ejhg.2008.81

By:

Dierssen, Jan Willem F.;
van Puijenbroek, Marjo;
Dezentjé, David A.;
Fleuren, Gert Jan;
Cornelisse, Cees J.;
van Wezel, Tom;
Offringa, Rienk;
Morreau, Hans

Publication type:

Article

An Internet-based external quality assessment in cytogenetics that audits a laboratory's analytical and interpretative performance.

Published in:

European Journal of Human Genetics, 2008, v. 16, n. 10, p. 1217, doi. 10.1038/ejhg.2008.82

By:

Hastings, Rosalind J.;
Maher, Eddy J.;
Quellhorst-Pawley, Bettina;
Howell, Rodney T.

Publication type:

Article

Is paternal age playing a role in the changing prevalence of Klinefelter syndrome?

Published in:

2008

By:

Herlihy, Amy S;
Halliday, Jane

Publication type:

Letter

Identification of entire LMX1B gene deletions in nail patella syndrome: evidence for haploinsufficiency as the main pathogenic mechanism underlying dominant inheritance in man.

Published in:

European Journal of Human Genetics, 2008, v. 16, n. 10, p. 1240, doi. 10.1038/ejhg.2008.83

By:

Bongers, Ernie M. H. F.;
de Wijs, Ilse J.;
Marcelis, Carlo;
Hoefsloot, Lies H.;
Knoers, Nine V. A. M.

Publication type:

Article

Family communication between children and their parents about inherited genetic conditions: a meta-synthesis of the research.

Published in:

European Journal of Human Genetics, 2008, v. 16, n. 10, p. 1193, doi. 10.1038/ejhg.2008.84

By:

Metcalfe, Alison;
Coad, Jane;
Plumridge, Gill M;
Gill, Paramjit;
Farndon, Peter

Publication type:

Article

A cAMP-specific phosphodiesterase (PDE8B) that is mutated in adrenal hyperplasia is expressed widely in human and mouse tissues: a novel PDE8B isoform in human adrenal cortex.

Published in:

European Journal of Human Genetics, 2008, v. 16, n. 10, p. 1245, doi. 10.1038/ejhg.2008.85

By:

Horvath, Anelia;
Giatzakis, Christoforos;
Tsang, Kitman;
Greene, Elizabeth;
Osorio, Paulo;
Boikos, Sosipatros;
Libè, Rossella;
Patronas, Yianna;
Robinson-White, Audrey;
Remmers, Elaine;
Bertherat, Jerôme;
Nesterova, Maria;
Stratakis, Constantine A.

Publication type:

Article

Reply to Nothnagel et al.

Published in:

2008

By:

van Ommen, Gert Jan B

Publication type:

Letter

Uptake of genetic counselling and predictive DNA testing in hypertrophic cardiomyopathy.

Published in:

European Journal of Human Genetics, 2008, v. 16, n. 10, p. 1201, doi. 10.1038/ejhg.2008.92

By:

Christiaans, Imke;
Birnie, Erwin;
Bonsel, Gouke J.;
Wilde, Arthur A. M.;
van Langen, Irene M.

Publication type:

Article

Reply to Herlihy and Halliday.

Published in:

2008

By:

Morris, Joan

Publication type:

Letter

Hypotheses in genome-wide association scans.

Published in:

2008

By:

Nothnagel, Michael;
Lu, Timothy T;
Krawczak, Michael

Publication type:

Letter