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

Results: 16

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

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

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