TABLE OF CONTENTS
Volume 15, Issue 2 (February 2007)
Practical Genetics
Neurofibromatosis 1 FREE
Rosalie E Ferner
Eur J Hum Genet 15: 131-138; advance online publication, September 6, 2006; doi:10.1038/sj.ejhg.5201676
Letters
Stability of BAT26 in Lynch syndrome colorectal tumours FREE
Lesley Jaskowski, Joanne Young, Leigh Jackson, Sven Arnold, Melissa A Barker, Michael D Walsh, Daniel D Buchanan, Samantha Holman, Kara A Mensink, Mark A Jenkins, John L Hopper, Stephen N Thibodeau, Jeremy R Jass and Amanda B Spurdle
Eur J Hum Genet 15: 139-141; advance online publication, November 29, 2006; doi:10.1038/sj.ejhg.5201740
Reply to Jaskowski et al FREE
Chiara Pastrello, Rossella Tricarico, Maria Grazia Tibiletti, Laura Papi, Mara Fornasarig, Alberto Morabito, Marco Agostini, Maurizio Genuardi and Alessandra Viel
Eur J Hum Genet 15: 141-142; advance online publication, November 29, 2006; doi:10.1038/sj.ejhg.5201741
Articles
Comprehensive mutational analysis of a cohort of Swedish Cornelia de Lange syndrome patients FREE
Jacqueline Schoumans, Josephine Wincent, Michela Barbaro, Tatjana Djureinovic, Paula Maguire, Lena Forsberg, Johan Staaf, Ann Charlotte Thuresson, Åke Borg, Ann Nordgren, Gunilla Malm and Britt Marie Anderlid
Eur J Hum Genet 15: 143-149; advance online publication, November 15, 2006; doi:10.1038/sj.ejhg.5201737
Preselection of cases through expert clinical and radiological review significantly increases mutation detection rate in multiple epiphyseal dysplasia FREE
Andreas Zankl, Gail C Jackson, Laureane Mittaz Crettol, Jacky Taylor, Rob Elles, Geert R Mortier, Jurgen Spranger, Bernhard Zabel, Sheila Unger, Martine Le Merrer, Valerie Cormier-Daire, Christine M Hall, Michael J Wright, Luisa Bonafe, Andrea Superti-Furga and Michael D Briggs
Eur J Hum Genet 15: 150-154; advance online publication, November 29, 2006; doi:10.1038/sj.ejhg.5201744
The mitochondrial 13513G>A mutation is most frequent in Leigh syndrome combined with reduced complex I activity, optic atrophy and/or Wolff–Parkinson–White FREE
E Mariken Ruiter, Marloes H Siers, Christa van den Elzen, Baziel G van Engelen, Jan A M Smeitink, Richard J Rodenburg and Frans A Hol
Eur J Hum Genet 15: 155-161; advance online publication, November 15, 2006; doi:10.1038/sj.ejhg.5201735
Detection of small genomic imbalances using microarray-based multiplex amplifiable probe hybridization FREE
Philippos C Patsalis, Ludmila Kousoulidou, Katrin Männik, Carolina Sismani, Olga 
ilina, Sven Parkel, Helen Puusepp, Neeme Tõnisson, Priit Palta, Maido Remm and Ants Kurg
Eur J Hum Genet 15: 162-172; advance online publication, November 22, 2006; doi:10.1038/sj.ejhg.5201738
Autozygosity mapping of Bardet–Biedl syndrome to 12q21.2 and confirmation of FLJ23560 as BBS10 FREE
Dominic R A White, Anuradha Ganesh, Darryl Nishimura, Eleanor Rattenberry, Shakeel Ahmed, Ursula M Smith, Shanaz Pasha, Sandy Raeburn, Richard C Trembath, Anna Rajab, Fiona Macdonald, Eyal Banin, Edwin M Stone, Colin A Johnson, Val C Sheffield and Eamonn R Maher
Eur J Hum Genet 15: 173-178; advance online publication, November 15, 2006; doi:10.1038/sj.ejhg.5201736
Filaggrin mutations p.R501X and c.2282del4 in ichthyosis vulgaris FREE
Robert Gruber, Andreas R Janecke, Christine Fauth, Gerd Utermann, Peter O Fritsch and Matthias Schmuth
Eur J Hum Genet 15: 179-184; advance online publication, December 13, 2006; doi:10.1038/sj.ejhg.5201742
Cystatin B: mutation detection, alternative splicing and expression in progressive myclonus epilepsy of Unverricht-Lundborg type (EPM1) patients FREE
Tarja Joensuu, Mervi Kuronen, Kirsi Alakurtti, Saara Tegelberg, Paula Hakala, Antti Aalto, Laura Huopaniemi, Nina Aula, Roberto Michellucci, Kai Eriksson and Anna-Elina Lehesjoki
Eur J Hum Genet 15: 185-193; advance online publication, September 27, 2006; doi:10.1038/sj.ejhg.5201723
Replication of reported linkages for dyslexia and spelling and suggestive evidence for novel regions on chromosomes 4 and 17 FREE
Timothy C Bates, Michelle Luciano, Anne Castles, Max Coltheart, Margaret J Wright and Nicholas G Martin
Eur J Hum Genet 15: 194-203; advance online publication, November 22, 2006; doi:10.1038/sj.ejhg.5201739
A counter-clockwise northern route of the Y-chromosome haplogroup N from Southeast Asia towards Europe FREE
Siiri Rootsi, Lev A Zhivotovsky, Marian Baldovi
, Manfred Kayser, Ildus A Kutuev, Rita Khusainova, Marina A Bermisheva, Marina Gubina, Sardana A Fedorova, Anne-Mai Ilumäe, Elza K Khusnutdinova, Mikhail I Voevoda, Ludmila P Osipova, Mark Stoneking, Alice A Lin, Vladimir Ferak, Jüri Parik, Toomas Kivisild, Peter A Underhill and Richard Villems
Eur J Hum Genet 15: 204-211; advance online publication, December 6, 2006; doi:10.1038/sj.ejhg.5201748
Pairwise linkage disequilibrium under disease models FREE
Steven J Schrodi, Veronica E Garcia, Charley Rowland and Hywel B Jones
Eur J Hum Genet 15: 212-220; advance online publication, November 15, 2006; doi:10.1038/sj.ejhg.5201731
Multiple QTL influence the serum Lp(a) concentration: a genome-wide linkage screen in the PROCARDIS study FREE
Simona Barlera, Claudia Specchia, Martin Farrall, Benedetta D Chiodini, Maria Grazia Franzosi, Stephan Rust, Fiona Green, Enrico B Nicolis, John Peden, Gerd Assmann, Rory Collins, Anders Hamsten, Gianni Tognoni and Hugh Watkins on behalf of the PROCARDIS Consortium
Eur J Hum Genet 15: 221-227; advance online publication, November 29, 2006; doi:10.1038/sj.ejhg.5201732
Methods for the selection of tagging SNPs: a comparison of tagging efficiency and performance FREE
Keyue Ding and Iftikhar J Kullo
Eur J Hum Genet 15: 228-236; advance online publication, December 13, 2006; doi:10.1038/sj.ejhg.5201755
Germline CHEK2 mutations and colorectal cancer risk: different effects of a missense and truncating mutations? FREE
Cezary Cybulski, Dominika Woko
orczyk, Józef Kadny, Grzegorz Kurzwaski, Joanna Suchy, Ewa Grabowska, Jacek Gronwald, Tomasz Huzarski, Tomasz Byrski, Bohdan Górski, Tadeusz D
bniak, Steven A Narod and Jan Lubi
ski
Eur J Hum Genet 15: 237-241; advance online publication, November 15, 2006; doi:10.1038/sj.ejhg.5201734
Short Reports
Allele dosage-dependent penetrance of RET proto-oncogene in an Israeli-Arab inbred family segregating Hirschsprung disease FREE
Lina Basel-Vanagaite, Anna Pelet, Zvi Steiner, Arnold Munnich, Yoram Rozenbach, Mordechai Shohat and Stanislas Lyonnet
Eur J Hum Genet 15: 242-245; advance online publication, November 8, 2006; doi:10.1038/sj.ejhg.5201733
Using HapMap data: a cautionary note FREE
Nidhan K Biswas, Badal Dey and Partha P Majumder
Eur J Hum Genet 15: 246-249; advance online publication, November 29, 2006; doi:10.1038/sj.ejhg.5201743
Genetic screening for autosomal recessive nonsyndromic mental retardation in an isolated population in Israel FREE
Lina Basel-Vanagaite, Ellen Taub, Gabrielle J Halpern, Valerie Drasinover, Nurit Magal, Bella Davidov, Joël Zlotogora and Mordechai Shohat
Eur J Hum Genet 15: 250-253; advance online publication, December 6, 2006; doi:10.1038/sj.ejhg.5201750
Corrigendum
Germline CHEK2 mutations and colorectal cancer risk: different effects of a missense and truncating mutations? FREE
Cezary Cybulski, Dominika Wokoorczyk, Józef Kadny, Grzegorz Kurzawski, Joanna Suchy, Ewa Grabowska, Jacek Gronwald, Tomasz Huzarski, Tomasz Byrski, Bohdan Górski, Tadeusz D
bniak, Steven A Narod and Jan Lubiski
Eur J Hum Genet 15: 254; doi:10.1038/sj.ejhg.5201779
