TABLE OF CONTENTS
Volume 16, Issue 11 (November 2008)
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
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
7 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
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

