European Journal of Human Genetics

PTEN hamartoma tumor syndromes

Gideon M Blumenthal — September 10, 2008

PTEN hamartoma tumor syndromes

European Journal of Human Genetics 16, 1289 (November 2008). doi:10.1038/ejhg.2008.162

Authors: Gideon M Blumenthal & Phillip A Dennis

Interstitial 22q13 deletions: genes other than SHANK3 have major effects on cognitive and language development

Heather L Wilson — June 4, 2008

Interstitial 22q13 deletions: genes other than SHANK3 have major effects on cognitive and language development

European Journal of Human Genetics 16, 1301 (November 2008). doi:10.1038/ejhg.2008.107

Authors: Heather L Wilson, John A Crolla, Dena Walker, Lina Artifoni, Bruno Dallapiccola, Takako Takano, Pradeep Vasudevan, Shuwen Huang, Vivienne Maloney, Twila Yobb, Oliver Quarrell & Heather E McDermid

Unbalanced GLA mRNAs ratio quantified by real-time PCR in Fabry patients' fibroblasts results in Fabry disease

Camilla Filoni — June 18, 2008

Unbalanced GLA mRNAs ratio quantified by real-time PCR in Fabry patients' fibroblasts results in Fabry disease

European Journal of Human Genetics 16, 1311 (November 2008). doi:10.1038/ejhg.2008.109

Authors: Camilla Filoni, Anna Caciotti, Laura Carraresi, Maria Alice Donati, Renzo Mignani, Rossella Parini, Mirella Filocamo, Fausto Soliani, Lisa Simi, Renzo Guerrini, Enrico Zammarchi & Amelia Morrone

Array-CGH fine mapping of minor and cryptic HR-CGH detected genomic imbalances in 80 out of 590 patients with abnormal development

Helle Lybæk — May 7, 2008

Array-CGH fine mapping of minor and cryptic HR-CGH detected genomic imbalances in 80 out of 590 patients with abnormal development

European Journal of Human Genetics 16, 1318 (November 2008). doi:10.1038/ejhg.2008.78

Authors: Helle Lybæk, Leonardo A Meza-Zepeda, Stine H Kresse, Trude Høysæter, Vidar M Steen & Gunnar Houge

Health first, genetics second: exploring families' experiences of communicating genetic information

Laura E Forrest — May 21, 2008

Health first, genetics second: exploring families' experiences of communicating genetic information

European Journal of Human Genetics 16, 1329 (November 2008). doi:10.1038/ejhg.2008.104

Authors: Laura E Forrest, Lisette Curnow, Martin B Delatycki, Loane Skene & MaryAnne Aitken

Twenty-year trends in prevalence and survival of Down syndrome

Claire Irving — July 2, 2008

Twenty-year trends in prevalence and survival of Down syndrome

European Journal of Human Genetics 16, 1336 (November 2008). doi:10.1038/ejhg.2008.122

Authors: Claire Irving, Anna Basu, Sam Richmond, John Burn & Christopher Wren

Genetic origin of the Swedish Sami inferred from HLA class I and class II allele frequencies

Åsa Johansson — May 14, 2008

Genetic origin of the Swedish Sami inferred from HLA class I and class II allele frequencies

European Journal of Human Genetics 16, 1341 (November 2008). doi:10.1038/ejhg.2008.88

Authors: Åsa Johansson, Max Ingman, Steven J Mack, Henry Erlich & Ulf Gyllensten

Identification of human haploinsufficient genes and their genomic proximity to segmental duplications

Vinh T Dang — June 4, 2008

Identification of human haploinsufficient genes and their genomic proximity to segmental duplications

European Journal of Human Genetics 16, 1350 (November 2008). doi:10.1038/ejhg.2008.111

Authors: Vinh T Dang, Karin S Kassahn, Andrés Esteban Marcos & Mark A Ragan

A novel splice mutation in PAK3 gene underlying mental retardation with neuropsychiatric features

Imen Rejeb — June 4, 2008

A novel splice mutation in PAK3 gene underlying mental retardation with neuropsychiatric features

European Journal of Human Genetics 16, 1358 (November 2008). doi:10.1038/ejhg.2008.103

Authors: Imen Rejeb, Yoann Saillour, Laetitia Castelnau, Cédric Julien, Thierry Bienvenu, Patricia Taga, Habiba Chaabouni, Jamel Chelly, Lamia Ben Jemaa & Nadia Bahi-Buisson

The copy number variant involving part of the α7 nicotinic receptor gene contains a polymorphic inversion

Rachel H Flomen — June 11, 2008

The copy number variant involving part of the α7 nicotinic receptor gene contains a polymorphic inversion

European Journal of Human Genetics 16, 1364 (November 2008). doi:10.1038/ejhg.2008.112

Authors: Rachel H Flomen, Angela F Davies, Marta Di Forti, Caterina La Cascia, Caroline Mackie-Ogilvie, Robin Murray & Andrew J Makoff

Genome-wide linkage analysis for identifying quantitative trait loci involved in the regulation of lipoprotein a (Lpa) levels

Sonia López — June 18, 2008

Genome-wide linkage analysis for identifying quantitative trait loci involved in the regulation of lipoprotein a (Lpa) levels

European Journal of Human Genetics 16, 1372 (November 2008). doi:10.1038/ejhg.2008.114

Authors: Sonia López, Alfonso Buil, Jordi Ordoñez, Juan Carlos Souto, Laura Almasy, Mark Lathrop, John Blangero, Francisco Blanco-Vaca, Jordi Fontcuberta & José Manuel Soria

Comprehensive association analyses of IGF1, ESR2, and CYP17 genes with adult height in Caucasians

Tie-Lin Yang — June 18, 2008

Comprehensive association analyses of IGF1, ESR2, and CYP17 genes with adult height in Caucasians

European Journal of Human Genetics 16, 1380 (November 2008). doi:10.1038/ejhg.2008.113

Authors: Tie-Lin Yang, Dong-Hai Xiong, Yan Guo, Robert R Recker & Hong-Wen Deng

Testing replication of a 5-SNP set for general cognitive ability in six population samples

Michelle Luciano — May 21, 2008

Testing replication of a 5-SNP set for general cognitive ability in six population samples

European Journal of Human Genetics 16, 1388 (November 2008). doi:10.1038/ejhg.2008.100

Authors: Michelle Luciano, Penelope A Lind, Ian J Deary, Antony Payton, Danielle Posthuma, Lee M Butcher, Zoltan Bochdanovits, Lawrence J Whalley, Peter M Visscher, Sarah E Harris, Tinca J C Polderman, Oliver S P Davis, Margaret J Wright, John M Starr, Eco J C de Geus, Timothy C Bates, Grant W Montgomery, Dorret I Boomsma, Nicholas G Martin & Robert Plomin

The use of common mitochondrial variants to detect and characterise population structure in the Australian population: implications for genome-wide association studies

Enda M Byrne — July 9, 2008

The use of common mitochondrial variants to detect and characterise population structure in the Australian population: implications for genome-wide association studies

European Journal of Human Genetics 16, 1396 (November 2008). doi:10.1038/ejhg.2008.117

Authors: Enda M Byrne, Allan F McRae, Zhen-Zhen Zhao, Nicholas G Martin, Grant W Montgomery & Peter M Visscher

Search for copy number alterations in the MEFV gene using multiplex ligation probe amplification, experience from three diagnostic centres

Marielle E van Gijn — July 23, 2008

Search for copy number alterations in the MEFV gene using multiplex ligation probe amplification, experience from three diagnostic centres

European Journal of Human Genetics 16, 1404 (November 2008). doi:10.1038/ejhg.2008.135

Authors: Marielle E van Gijn, Stéphan Soler, Claire de la Chapelle, Marcel Mulder, Cécile Ritorre, Marjolein Kriek, Laurent Philibert, Michiel van der Wielen, Joost Frenkel, Sylvie Grandemange, Egbert Bakker, Johannes K Ploos van Amstel & Isabelle Touitou

Novel homozygous ALS2 nonsense mutation (p.Gln715X) in sibs with infantile-onset ascending spastic paralysis: the first cases from northwestern Europe

Corien C Verschuuren-Bemelmans — June 4, 2008

Novel homozygous ALS2 nonsense mutation (p.Gln715X) in sibs with infantile-onset ascending spastic paralysis: the first cases from northwestern Europe

European Journal of Human Genetics 16, 1407 (November 2008). doi:10.1038/ejhg.2008.108

Authors: Corien C Verschuuren-Bemelmans, Pia Winter, Deborah A Sival, Jan-Willem Elting, Oebele F Brouwer & Ulrich Müller