TABLE OF CONTENTS

Volume 16, Issue 11 (November 2008)

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Practical Genetics

PTEN hamartoma tumor syndromes FREE

Gideon M Blumenthal and Phillip A Dennis

Eur J Hum Genet 16: 1289-1300; advance online publication, September 10, 2008; doi:10.1038/ejhg.2008.162

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Articles

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

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

Eur J Hum Genet 16: 1301-1310; advance online publication, June 4, 2008; doi:10.1038/ejhg.2008.107

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

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

Eur J Hum Genet 16: 1311-1317; advance online publication, June 18, 2008; doi:10.1038/ejhg.2008.109

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

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

Eur J Hum Genet 16: 1318-1328; advance online publication, May 7, 2008; doi:10.1038/ejhg.2008.78

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

Laura E Forrest, Lisette Curnow, Martin B Delatycki, Loane Skene and MaryAnne Aitken

Eur J Hum Genet 16: 1329-1335; advance online publication, May 21, 2008; doi:10.1038/ejhg.2008.104

Twenty-year trends in prevalence and survival of Down syndrome FREE

Claire Irving, Anna Basu, Sam Richmond, John Burn and Christopher Wren

Eur J Hum Genet 16: 1336-1340; advance online publication, July 2, 2008; doi:10.1038/ejhg.2008.122

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

Åsa Johansson, Max Ingman, Steven J Mack, Henry Erlich and Ulf Gyllensten

Eur J Hum Genet 16: 1341-1349; advance online publication, May 14, 2008; doi:10.1038/ejhg.2008.88

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

Vinh T Dang, Karin S Kassahn, Andrés Esteban Marcos and Mark A Ragan

Eur J Hum Genet 16: 1350-1357; advance online publication, June 4, 2008; doi:10.1038/ejhg.2008.111

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

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

Eur J Hum Genet 16: 1358-1363; advance online publication, June 4, 2008; doi:10.1038/ejhg.2008.103

The copy number variant involving part of the alpha7 nicotinic receptor gene contains a polymorphic inversion FREE

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

Eur J Hum Genet 16: 1364-1371; advance online publication, June 11, 2008; doi:10.1038/ejhg.2008.112

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

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

Eur J Hum Genet 16: 1372-1379; advance online publication, June 18, 2008; doi:10.1038/ejhg.2008.114

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

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

Eur J Hum Genet 16: 1380-1387; advance online publication, June 18, 2008; doi:10.1038/ejhg.2008.113

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

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 and Robert Plomin

Eur J Hum Genet 16: 1388-1395; advance online publication, May 21, 2008; doi:10.1038/ejhg.2008.100

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

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

Eur J Hum Genet 16: 1396-1403; advance online publication, July 9, 2008; doi:10.1038/ejhg.2008.117

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Short Reports

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

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 and Isabelle Touitou

Eur J Hum Genet 16: 1404-1406; advance online publication, July 23, 2008; doi:10.1038/ejhg.2008.135

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

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

Eur J Hum Genet 16: 1407-1411; advance online publication, June 4, 2008; doi:10.1038/ejhg.2008.108

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