TABLE OF CONTENTS
Volume 16, Issue 9 (September 2008)
Letter
An Xp11.23 deletion containing PORCN may also cause angioma serpiginosum, a cosmetic skin disease associated with extreme skewing of X-inactivation FREE
Gunnar Houge, Frank Oeffner and Karl-Heinz Grzeschik
Eur J Hum Genet 16: 1027-1028; advance online publication, May 14, 2008; doi:10.1038/ejhg.2008.87
Articles
MCT8 mutation analysis and identification of the first female with Allan–Herndon–Dudley syndrome due to loss of MCT8 expression FREE
Suzanna Gerarda Maria Frints, Steffen Lenzner, Mareike Bauters, Lars Riff Jensen, Hilde Van Esch, Vincent des Portes, Ute Moog, Merryn Victor Erik Macville, Kees van Roozendaal, Constance Theresia Rimbertha Maria Schrander-Stumpel, Andreas Tzschach, Peter Marynen, Jean-Pierre Fryns, Ben Hamel, Hans van Bokhoven, Jamel Chelly, Chérif Beldjord, Gillian Turner, Jozef Gecz, Claude Moraine, Martine Raynaud, Hans Hilger Ropers, Guy Froyen and Andreas Walter Kuss
Eur J Hum Genet 16: 1029-1037; advance online publication, April 9, 2008; doi:10.1038/ejhg.2008.66
Williams–Beuren syndrome TRIM50 encodes an E3 ubiquitin ligase FREE
Lucia Micale, Carmela Fusco, Bartolomeo Augello, Luisa M R Napolitano, Emmanouil T Dermitzakis, Germana Meroni, Giuseppe Merla and Alexandre Reymond
Eur J Hum Genet 16: 1038-1049; advance online publication, April 9, 2008; doi:10.1038/ejhg.2008.68
A novel genomic disorder: a deletion of the SACS gene leading to Spastic Ataxia of Charlevoix–Saguenay FREE
Jeroen Breckpot, Yoshihisa Takiyama, Bernard Thienpont, Steven Van Vooren, Joris Robert Vermeesch, Els Ortibus and Koenraad Devriendt
Eur J Hum Genet 16: 1050-1054; advance online publication, April 9, 2008; doi:10.1038/ejhg.2008.58
Identification of a founder mutation in TPM3 in nemaline myopathy patients of Turkish origin FREE
Vilma-Lotta Lehtokari, Katarina Pelin, Kati Donner, Thomas Voit, Sabine Rudnik-Schöneborn, Mechthild Stoetter, Beril Talim, Haluk Topaloglu, Nigel G Laing and Carina Wallgren-Pettersson
Eur J Hum Genet 16: 1055-1061; advance online publication, April 2, 2008; doi:10.1038/ejhg.2008.60
Micro-exons of the cardiac myosin binding protein C gene: flanking introns contain a disproportionately large number of hypertrophic cardiomyopathy mutations FREE
Rune Frank-Hansen, Stephen P Page, Petros Syrris, William J McKenna, Michael Christiansen and Paal Skytt Andersen
Eur J Hum Genet 16: 1062-1069; advance online publication, March 12, 2008; doi:10.1038/ejhg.2008.52
Cerebellar hypoplasia, with quadrupedal locomotion, caused by mutations in the very low-density lipoprotein receptor gene FREE
S Türkmen, K Hoffmann, Osman Demirhan, Defne Aruoba, N Humphrey and S Mundlos
Eur J Hum Genet 16: 1070-1074; advance online publication, March 26, 2008; doi:10.1038/ejhg.2008.73
Catechol O-methyl transferase and dopamine D2 receptor gene polymorphisms: evidence of positive heterosis and gene–gene interaction on working memory functioning FREE
M Florencia Gosso, Eco J C de Geus, Tinca J C Polderman, Dorret I Boomsma, Peter Heutink and Danielle Posthuma
Eur J Hum Genet 16: 1075-1082; advance online publication, April 2, 2008; doi:10.1038/ejhg.2008.57
Interleukin 18 receptor 1 gene polymorphisms are associated with asthma FREE
Guohua Zhu, Moira K B Whyte, Jorgen Vestbo, Karin Carlsen, Kai-Håkon Carlsen, Warren Lenney, Michael Silverman, Peter Helms and Sreekumar G Pillai
Eur J Hum Genet 16: 1083-1090; advance online publication, April 2, 2008; doi:10.1038/ejhg.2008.67
Reconstructing the phylogeny of African mitochondrial DNA lineages in Slavs FREE
Boris A Malyarchuk, Miroslava Derenko, Maria Perkova, Tomasz Grzybowski, Tomas Vanecek and Jan Lazur
Eur J Hum Genet 16: 1091-1096; advance online publication, April 9, 2008; doi:10.1038/ejhg.2008.70
Quantifying the increase in average human heterozygosity due to urbanisation FREE
Igor Rudan, Andrew D Carothers, Ozren Polasek, Caroline Hayward, Veronique Vitart, Zrinka Biloglav, Ivana Kolcic, Lina Zgaga, Davor Ivankovic, Ariana Vorko-Jovic, James F Wilson, James L Weber, Nick Hastie, Alan Wright and Harry Campbell
Eur J Hum Genet 16: 1097-1102; advance online publication, March 5, 2008; doi:10.1038/ejhg.2008.48
Genome-wide search for QTLs for apolipoprotein A-I level in elderly Swedish DZ twins: evidence of female-specific locus on 15q11–13 FREE
Patrik K E Magnusson, Marcus Boman, Ulf de Faire, Markus Perola, Leena Peltonen and Nancy L Pedersen
Eur J Hum Genet 16: 1103-1110; advance online publication, March 5, 2008; doi:10.1038/ejhg.2008.50
Cox proportional hazards models have more statistical power than logistic regression models in cross-sectional genetic association studies FREE
Jeroen B van der Net, A Cecile J W Janssens, Marinus J C Eijkemans, John J P Kastelein, Eric J G Sijbrands and Ewout W Steyerberg
Eur J Hum Genet 16: 1111-1116; advance online publication, April 2, 2008; doi:10.1038/ejhg.2008.59
Ischaemic stroke in hypertensive patients is associated with variations in the PDE4D genome region FREE
Håkan Lövkvist, Jan Gustav Smith, Holger Luthman, Peter Höglund, Bo Norrving, Ulf Kristoffersson, Ann-Cathrin Jönsson and Arne G Lindgren
Eur J Hum Genet 16: 1117-1125; advance online publication, April 9, 2008; doi:10.1038/ejhg.2008.62
Preferential reciprocal transfer of paternal/maternal DLK1 alleles to obese children: first evidence of polar overdominance in humans FREE
Anne-Kathrin Wermter, André Scherag, David Meyre, Kathrin Reichwald, Emmanuelle Durand, Thuy Trang Nguyen, Kerstin Koberwitz, Peter Lichtner, Thomas Meitinger, Helmut Schäfer, Anke Hinney, Philippe Froguel, Johannes Hebebrand and Günter Brönner
Eur J Hum Genet 16: 1126-1134; advance online publication, April 9, 2008; doi:10.1038/ejhg.2008.64
Genome-wide linkage scan for atypical nevi in p16-Leiden melanoma families FREE
Femke A de Snoo, Jouke-Jan Hottenga, Elizabeth M Gillanders, Loudewijk A Sandkuijl, Mary Pat Jones, Wilma Bergman, Clasine van der Drift, Inge van Leeuwen, Lenny van Mourik, Jeanet A C ter Huurne, Rune R Frants, Rein Willemze, Martijn H Breuning, Jeffrey M Trent and Nelleke A Gruis
Eur J Hum Genet 16: 1135-1141; advance online publication, April 9, 2008; doi:10.1038/ejhg.2008.72
Evaluation of HapMap data in six populations of European descent FREE
Per E Lundmark, Ulrika Liljedahl, Dorret I Boomsma, Heikki Mannila, Nicholas G Martin, Aarno Palotie, Leena Peltonen, Markus Perola, Tim D Spector and Ann-Christine Syvänen
Eur J Hum Genet 16: 1142-1150; advance online publication, April 9, 2008; doi:10.1038/ejhg.2008.77
Short Reports
Linkage of monogenic infantile hypertrophic pyloric stenosis to chromosome 16q24 FREE
Kate V Everett, Francesca Capon, Christina Georgoula, Barry A Chioza, Ashley Reece, Mervyn Jaswon, Agostino Pierro, Prem Puri, R Mark Gardiner and Eddie MK Chung
Eur J Hum Genet 16: 1151-1154; advance online publication, May 14, 2008; doi:10.1038/ejhg.2008.86
HuGE Watch: tracking trends and patterns of published studies of genetic association and human genome epidemiology in near-real time FREE
Wei Yu, Anja Wulf, Ajay Yesupriya, Melinda Clyne, Muin Joseph Khoury and Marta Gwinn
Eur J Hum Genet 16: 1155-1158; advance online publication, May 14, 2008; doi:10.1038/ejhg.2008.95
Errata
Patenting and licensing in genetic testing: Recommendations of the European Society of Human Genetics FREE
The ESHG Working Party on Patenting and Licensing
Eur J Hum Genet 16: 1159; doi:10.1038/ejhg.2008.123
