Works matching IS 10184813 AND DT 2008 AND VI 16 AND IP 11

Results: 16

Testing replication of a 5-SNP set for general cognitive ability in six population samples.
Published in:
European Journal of Human Genetics, 2008, v. 16, n. 11, p. 1388, doi. 10.1038/ejhg.2008.100
By:
- Luciano, Michelle;
- Lind, Penelope A.;
- Deary, Ian J.;
- Payton, Antony;
- Posthuma, Danielle;
- Butcher, Lee M.;
- Bochdanovits, Zoltan;
- Whalley, Lawrence J.;
- Visscher, Peter M.;
- Harris, Sarah E.;
- Polderman, Tinca J. C.;
- Davis, Oliver S. P.;
- Wright, Margaret J.;
- Starr, John M.;
- de Geus, Eco J. C.;
- Bates, Timothy C.;
- Montgomery, Grant W.;
- Boomsma, Dorret I.;
- Martin, Nicholas G.;
- Plomin, Robert
Publication type:
Article
A novel splice mutation in PAK3 gene underlying mental retardation with neuropsychiatric features.
Published in:
European Journal of Human Genetics, 2008, v. 16, n. 11, p. 1358, doi. 10.1038/ejhg.2008.103
By:
- Rejeb, Imen;
- Saillour, Yoann;
- Castelnau, Laetitia;
- Julien, Cédric;
- Bienvenu, Thierry;
- Taga, Patricia;
- Chaabouni, Habiba;
- Chelly, Jamel;
- Jemaa, Lamia Ben;
- Bahi-Buisson, Nadia
Publication type:
Article
Health first, genetics second: exploring families' experiences of communicating genetic information.
Published in:
European Journal of Human Genetics, 2008, v. 16, n. 11, p. 1329, doi. 10.1038/ejhg.2008.104
By:
- Forrest, Laura E.;
- Curnow, Lisette;
- Delatycki, Martin B.;
- Skene, Loane;
- Aitken, MaryAnne
Publication type:
Article
Interstitial 22q13 deletions: genes other than SHANK3 have major effects on cognitive and language development.
Published in:
European Journal of Human Genetics, 2008, v. 16, n. 11, p. 1301, doi. 10.1038/ejhg.2008.107
By:
- Wilson, Heather L.;
- Crolla, John A.;
- Walker, Dena;
- Artifoni, Lina;
- Dallapiccola, Bruno;
- Takano, Takako;
- Vasudevan, Pradeep;
- Shuwen Huang;
- Maloney, Vivienne;
- Yobb, Twila;
- Quarrell, Oliver;
- McDermid, Heather E.
Publication type:
Article
Novel homozygous ALS2 nonsense mutation (p.Gln715X) in sibs with infantile-onset ascending spastic paralysis: the first cases from northwestern Europe.
Published in:
European Journal of Human Genetics, 2008, v. 16, n. 11, p. 1407, doi. 10.1038/ejhg.2008.108
By:
- Verschuuren-Bemelmans, Corien C.;
- Winter, Pia;
- Sival, Deborah A.;
- Elting, Jan-Willem;
- Brouwer, Oebele F.;
- Müller, Ulrich
Publication type:
Article
Unbalanced GLA mRNAs ratio quantified by real-time PCR in Fabry patients' fibroblasts results in Fabry disease.
Published in:
European Journal of Human Genetics, 2008, v. 16, n. 11, p. 1311, doi. 10.1038/ejhg.2008.109
By:
- Filoni, Camilla;
- Caciotti, Anna;
- Carraresi, Laura;
- Donati, Maria Alice;
- Mignani, Renzo;
- Parini, Rossella;
- Filocamo, Mirella;
- Soliani, Fausto;
- Simi, Lisa;
- Guerrini, Renzo;
- Zammarchi, Enrico;
- Morrone, Amelia
Publication type:
Article
Identification of human haploinsufficient genes and their genomic proximity to segmental duplications.
Published in:
European Journal of Human Genetics, 2008, v. 16, n. 11, p. 1350, doi. 10.1038/ejhg.2008.111
By:
- Dang, Vinh T.;
- Kassahn, Karin S.;
- Marcos, Andrés Esteban;
- Ragan, Mark A.
Publication type:
Article
The copy number variant involving part of the α7 nicotinic receptor gene contains a polymorphic inversion.
Published in:
European Journal of Human Genetics, 2008, v. 16, n. 11, p. 1364, doi. 10.1038/ejhg.2008.112
By:
- Flomen, Rachel H.;
- Davies, Angela F.;
- Di Forti, Marta;
- La Cascia, Caterina;
- Mackie-Ogilvie, Caroline;
- Murray, Robin;
- Makoff, Andrew J.
Publication type:
Article
Comprehensive association analyses of IGF1, ESR2, and CYP17 genes with adult height in Caucasians.
Published in:
European Journal of Human Genetics, 2008, v. 16, n. 11, p. 1380, doi. 10.1038/ejhg.2008.113
By:
- Tie-Lin Yang;
- Dong-Hai Xiong;
- Yan Guo;
- Recker, Robert R.;
- Hong-Wen Deng
Publication type:
Article
Genome-wide linkage analysis for identifying quantitative trait loci involved in the regulation of lipoprotein a (Lpa) levels.
Published in:
European Journal of Human Genetics, 2008, v. 16, n. 11, p. 1372, doi. 10.1038/ejhg.2008.114
By:
- López, Sonia;
- Buil, Alfonso;
- Ordoñez, Jordi;
- Souto, Juan Carlos;
- Almasy, Laura;
- Lathrop, Mark;
- Blangero, John;
- Blanco-Vaca, Francisco;
- Fontcuberta, Jordi;
- Soria, José Manuel
Publication type:
Article
The use of common mitochondrial variants to detect and characterise population structure in the Australian population: implications for genome-wide association studies.
Published in:
European Journal of Human Genetics, 2008, v. 16, n. 11, p. 1396, doi. 10.1038/ejhg.2008.117
By:
- Byrne, Enda M.;
- McRae, Allan F.;
- Zhen-Zhen Zhao;
- Martin, Nicholas G.;
- Montgomery, Grant W.;
- Visscher, Peter M.
Publication type:
Article
Twenty-year trends in prevalence and survival of Down syndrome.
Published in:
European Journal of Human Genetics, 2008, v. 16, n. 11, p. 1336, doi. 10.1038/ejhg.2008.122
By:
- Irving, Claire;
- Basu, Anna;
- Richmond, Sam;
- Burn, John;
- Wren, Christopher
Publication type:
Article
Search for copy number alterations in the MEFV gene using multiplex ligation probe amplification, experience from three diagnostic centres.
Published in:
European Journal of Human Genetics, 2008, v. 16, n. 11, p. 1404, doi. 10.1038/ejhg.2008.135
By:
- van Gijn, Marielle E.;
- Soler, Stéphan;
- de la Chapelle, Claire;
- Mulder, Marcel;
- Ritorre, Cécile;
- Kriek, Marjolein;
- Philibert, Laurent;
- van der Wielen, Michiel;
- Frenkel, Joost;
- Grandemange, Sylvie;
- Bakker, Egbert;
- van Amstel, Johannes K. Ploos;
- Touitou, Isabelle
Publication type:
Article
PTEN hamartoma tumor syndromes.
Published in:
European Journal of Human Genetics, 2008, v. 16, n. 11, p. 1289, doi. 10.1038/ejhg.2008.162
By:
- Blumenthal, Gideon M.;
- Dennis, Phillip A.
Publication type:
Article
Array-CGH fine mapping of minor and cryptic HR-CGH detected genomic imbalances in 80 out of 590 patients with abnormal development.
Published in:
European Journal of Human Genetics, 2008, v. 16, n. 11, p. 1318, doi. 10.1038/ejhg.2008.78
By:
- Lybæk, Helle;
- Meza-Zepeda, Leonardo A.;
- Kresse, Stine H.;
- Høysæter, Trude;
- Steen, Vidar M.;
- Houge, Gunnar
Publication type:
Article
Genetic origin of the Swedish Sami inferred from HLA class I and class II allele frequencies.
Published in:
European Journal of Human Genetics, 2008, v. 16, n. 11, p. 1341, doi. 10.1038/ejhg.2008.88
By:
- Johansson, Åsa;
- Ingman, Max;
- Mack, Steven J.;
- Erlich, Henry;
- Gyllensten, Ulf
Publication type:
Article