Works matching IS 10184813 AND DT 2008 AND VI 16 AND IP 9

Results: 21

A novel genomic disorder: a deletion of the SACS gene leading to Spastic Ataxia of Charlevoix–Saguenay.

Published in:

European Journal of Human Genetics, 2008, v. 16, n. 9, p. 1050, doi. 10.1038/ejhg.2008.58

By:

Breckpot, Jeroen;
Takiyama, Yoshihisa;
Thienpont, Bernard;
Van Vooren, Steven;
Vermeesch, Joris Robert;
Ortibus, Els;
Devriendt, Koenraad

Publication type:

Article

Patenting and licensing in genetic testing: Recommendations of the European Society of Human Genetics.

Published in:: European Journal of Human Genetics, 2008, v. 16, n. 9, p. 1159, doi. 10.1038/ejhg.2008.123
Publication type:: Article

Reconstructing the phylogeny of African mitochondrial DNA lineages in Slavs.

Published in:

European Journal of Human Genetics, 2008, v. 16, n. 9, p. 1091, doi. 10.1038/ejhg.2008.70

By:

Malyarchuk, Boris A.;
Derenko, Miroslava;
Perkova, Maria;
Grzybowski, Tomasz;
Vanecek, Tomas;
Lazur, Jan

Publication type:

Article

Composite measure of linkage disequilibrium for testing interaction between unlinked loci.

Published in:

2008

By:

Xuesen Wu;
L. Jin;
Momiao Xiong

Publication type:

Correction Notice

Genome-wide search for QTLs for apolipoprotein A-I level in elderly Swedish DZ twins: evidence of female-specific locus on 15q11–13.

Published in:

European Journal of Human Genetics, 2008, v. 16, n. 9, p. 1103, doi. 10.1038/ejhg.2008.50

By:

Magnusson, Patrik K. E.;
Boman, Marcus;
de Faire, Ulf;
Perola, Markus;
Peltonen, Leena;
Pedersen, Nancy L.

Publication type:

Article

Micro-exons of the cardiac myosin binding protein C gene: flanking introns contain a disproportionately large number of hypertrophic cardiomyopathy mutations.

Published in:

European Journal of Human Genetics, 2008, v. 16, n. 9, p. 1062, doi. 10.1038/ejhg.2008.52

By:

Frank-Hansen, Rune;
Page, Stephen P;
Syrris, Petros;
McKenna, William J.;
Christiansen, Michael;
Andersen, Paal Skytt

Publication type:

Article

Quantifying the increase in average human heterozygosity due to urbanisation.

Published in:

European Journal of Human Genetics, 2008, v. 16, n. 9, p. 1097, doi. 10.1038/ejhg.2008.48

By:

Rudan, Igor;
Carothers, Andrew D.;
Polasek, Ozren;
Hayward, Caroline;
Vitart, Veronique;
Biloglav, Zrinka;
Kolcic, Ivana;
Zgaga, Lina;
Ivankovic, Davor;
Vorko-Jovic, Ariana;
Wilson, James F.;
Weber, James L.;
Hastie, Nick;
Wright, Alan;
Campbell, Harry

Publication type:

Article

Interleukin 18 receptor 1 gene polymorphisms are associated with asthma.

Published in:

European Journal of Human Genetics, 2008, v. 16, n. 9, p. 1083, doi. 10.1038/ejhg.2008.67

By:

Guohua Zhu;
Whyte, Moira K. B.;
Vestbo, Jorgen;
Carlsen, Karin;
Carlsen, Kai-Håkon;
Lenney, Warren;
Silverman, Michael;
Helms, Peter;
Pillai, Sreekumar G.

Publication type:

Article

Catechol O-methyl transferase and dopamine D2 receptor gene polymorphisms: evidence of positive heterosis and gene–gene interaction on working memory functioning.

Published in:

European Journal of Human Genetics, 2008, v. 16, n. 9, p. 1075, doi. 10.1038/ejhg.2008.57

By:

Gosso, M Florencia;
de Geus, Eco J C;
Polderman, Tinca J C;
Boomsma, Dorret I;
Heutink, Peter;
Posthuma, Danielle

Publication type:

Article

Identification of a founder mutation in TPM3 in nemaline myopathy patients of Turkish origin.

Published in:

European Journal of Human Genetics, 2008, v. 16, n. 9, p. 1055, doi. 10.1038/ejhg.2008.60

By:

Lehtokari, Vilma-Lotta;
Pelin, Katarina;
Donner, Kati;
Voit, Thomas;
Rudnik-Schöneborn, Sabine;
Stoetter, Mechthild;
Talim, Beril;
Topaloglu, Haluk;
Laing, Nigel G;
Wallgren-Pettersson, Carina

Publication type:

Article

Cox proportional hazards models have more statistical power than logistic regression models in cross-sectional genetic association studies.

Published in:

European Journal of Human Genetics, 2008, v. 16, n. 9, p. 1111, doi. 10.1038/ejhg.2008.59

By:

van der Net, Jeroen B.;
Janssens, A. Cecile J. W.;
Eijkemans, Marinus J. C.;
Kastelein, John J. P.;
Sijbrands, Eric J. G.;
Steyerberg, Ewout W.

Publication type:

Article

Ischaemic stroke in hypertensive patients is associated with variations in the PDE4D genome region.

Published in:

European Journal of Human Genetics, 2008, v. 16, n. 9, p. 1117, doi. 10.1038/ejhg.2008.62

By:

Lövkvist, Håkan;
Smith, Jan Gustav;
Luthman, Holger;
Höglund, Peter;
Norrving, Bo;
Kristoffersson, Ulf;
Jönsson, Ann-Cathrin;
Lindgren, Arne G

Publication type:

Article

Genome-wide linkage scan for atypical nevi in p16-Leiden melanoma families.

Published in:

European Journal of Human Genetics, 2008, v. 16, n. 9, p. 1135, doi. 10.1038/ejhg.2008.72

By:

de Snoo, Femke A.;
Hottenga, Jouke-Jan;
Gillanders, Elizabeth M.;
Sandkuijl, Loudewijk A.;
Jones, Mary Pat;
Bergman, Wilma;
van der Drift, Clasine;
van Leeuwen, Inge;
van Mourik, Lenny;
Huurne, Jeanet A. C. ter;
Frants, Rune R.;
Willemze, Rein;
Breuning, Martijn H.;
Trent, Jeffrey M.;
Gruis, Nelleke A.

Publication type:

Article

Preferential reciprocal transfer of paternal/maternal DLK1 alleles to obese children: first evidence of polar overdominance in humans.

Published in:

European Journal of Human Genetics, 2008, v. 16, n. 9, p. 1126, doi. 10.1038/ejhg.2008.64

By:

Wermter, Anne-Kathrin;
Scherag, André;
Meyre, David;
Reichwald, Kathrin;
Durand, Emmanuelle;
Nguyen, Thuy Trang;
Koberwitz, Kerstin;
Lichtner, Peter;
Meitinger, Thomas;
Schäfer, Helmut;
Hinney, Anke;
Froguel, Philippe;
Hebebrand, Johannes;
Brönner, Günter

Publication type:

Article

Evaluation of HapMap data in six populations of European descent.

Published in:

European Journal of Human Genetics, 2008, v. 16, n. 9, p. 1142, doi. 10.1038/ejhg.2008.77

By:

Lundmark, Per E.;
Liljedahl, Ulrika;
Boomsma, Dorret I.;
Mannila, Heikki;
Martin, Nicholas G.;
Palotie, Aarno;
Peltonen, Leena;
Perola, Markus;
Spector, Tim D.;
Syvänen, Ann-Christine

Publication type:

Article

MCT8 mutation analysis and identification of the first female with Allan–Herndon–Dudley syndrome due to loss of MCT8 expression.

Published in:

European Journal of Human Genetics, 2008, v. 16, n. 9, p. 1029, doi. 10.1038/ejhg.2008.66

By:

Frints, Suzanna Gerarda Maria;
Lenzner, Steffen;
Bauters, Mareike;
Jensen, Lars Riff;
Van Esch, Hilde;
des Portes, Vincent;
Moog, Ute;
Macville, Merryn Victor Erik;
van Roozendaal, Kees;
Schrander-Stumpel, Constance Theresia Rimbertha Maria;
Tzschach, Andreas;
Marynen, Peter;
Fryns, Jean-Pierre;
Hamel, Ben;
van Bokhoven, Hans;
Chelly, Jamel;
Beldjord, Chérif;
Turner, Gillian;
Gecz, Jozef;
Moraine, Claude

Publication type:

Article

Cerebellar hypoplasia, with quadrupedal locomotion, caused by mutations in the very low-density lipoprotein receptor gene.

Published in:

European Journal of Human Genetics, 2008, v. 16, n. 9, p. 1070, doi. 10.1038/ejhg.2008.73

By:

Türkmen, S;
Hoffmann, K;
Demirhan, Osman;
Aruoba, Defne;
Humphrey, N;
Mundlos, S

Publication type:

Article

Williams–Beuren syndrome TRIM50 encodes an E3 ubiquitin ligase.

Published in:

European Journal of Human Genetics, 2008, v. 16, n. 9, p. 1038, doi. 10.1038/ejhg.2008.68

By:

Micale, Lucia;
Fusco, Carmela;
Augello, Bartolomeo;
Napolitano, Luisa M. R.;
Dermitzakis, Emmanouil T.;
Meroni, Germana;
Merla, Giuseppe;
Reymond, Alexandre

Publication type:

Article

Linkage of monogenic infantile hypertrophic pyloric stenosis to chromosome 16q24.

Published in:

European Journal of Human Genetics, 2008, v. 16, n. 9, p. 1151, doi. 10.1038/ejhg.2008.86

By:

Everett, Kate V.;
Capon, Francesca;
Georgoula, Christina;
Chioza, Barry A.;
Reece, Ashley;
Jaswon, Mervyn;
Pierro, Agostino;
Puri, Prem;
Gardiner, R. Mark;
Chung, Eddie M. K.

Publication type:

Article

HuGE Watch: tracking trends and patterns of published studies of genetic association and human genome epidemiology in near-real time.

Published in:

European Journal of Human Genetics, 2008, v. 16, n. 9, p. 1155, doi. 10.1038/ejhg.2008.95

By:

Wei Yu;
Wulf, Anja;
Yesupriya, Ajay;
Clyne, Melinda;
Khoury, Muin Joseph;
Gwinn, Marta

Publication type:

Article

An Xp11.23 deletion containing PORCN may also cause angioma serpiginosum, a cosmetic skin disease associated with extreme skewing of X-inactivation.

Published in:

2008

By:

Houge, Gunnar;
Oeffner, Frank;
Grzeschik, Karl-Heinz

Publication type:

Letter