TABLE OF CONTENTS
Volume 16, Issue 2 (February 2008)
News and Commentaries
Carrier screening: look before you leap: Carrier screening for type 1 Gaucher disease: difficult questions FREE
Pascal Borry, Angus Clarke and Kris Dierickx
Eur J Hum Genet 16: 139-140; advance online publication, November 28, 2007; doi:10.1038/sj.ejhg.5201960
ALS predisposition modifiers: Knock NOX, who's there? SOD1 mice still are FREE
Paul N Valdmanis, Edor Kabashi, Patrick A Dion and Guy A Rouleau
Eur J Hum Genet 16: 140-142; advance online publication, November 28, 2007; doi:10.1038/sj.ejhg.5201961
Bases, Bits and Disease: Bases, bits and disease: a mathematical theory of human genetics FREE
Jason H Moore
Eur J Hum Genet 16: 143-144; advance online publication, October 31, 2007; doi:10.1038/sj.ejhg.5201936
Articles
Auriculo-condylar syndrome: mapping of a first locus and evidence for genetic heterogeneity FREE
Cibele Masotti, Karina G Oliveira, Fabiana Poerner, Alessandra Splendore, Josiane Souza, Renato da Silva Freitas, Roseli Zechi-Ceide, Maria Leine Guion-Almeida and Maria Rita Passos-Bueno
Eur J Hum Genet 16: 145-152; advance online publication, November 14, 2007; doi:10.1038/sj.ejhg.5201955
X inactivation in triploidy and trisomy: the search for autosomal transfactors that choose the active X FREE
Barbara R Migeon, Kara Pappas, Gail Stetten, Carolyn Trunca and Patricia A Jacobs
Eur J Hum Genet 16: 153-162; advance online publication, October 31, 2007; doi:10.1038/sj.ejhg.5201944
Is the prevalence of Klinefelter syndrome increasing? FREE
Joan K Morris, Eva Alberman, Claire Scott and Patricia Jacobs
Eur J Hum Genet 16: 163-170; advance online publication, November 14, 2007; doi:10.1038/sj.ejhg.5201956
Low prevalence of APP duplications in Swedish and Finnish patients with early-onset Alzheimer's disease FREE
Elin S Blom, Jayashree Viswanathan, Lena Kilander, Seppo Helisalmi, Hilkka Soininen, Lars Lannfelt, Martin Ingelsson, Anna Glaser and Mikko Hiltunen
Eur J Hum Genet 16: 171-175; advance online publication, November 28, 2007; doi:10.1038/sj.ejhg.5201966
An assessment of the Irish population for large-scale genetic mapping studies involving epilepsy and other complex diseases FREE
Colm T O'Dushlaine, Ciara Dolan, Michael E Weale, Alice Stanton, David T Croke, Reetta Kalviainen, Kai Eriksson, Anne-Mari Kantanen, Rachel A Gibson, David Hosford, Sanjay M Sisodiya, Michael Gill, Aiden P Corvin, Derek W Morris, Norman Delanty and Gianpiero L Cavalleri
Eur J Hum Genet 16: 176-183; advance online publication, October 31, 2007; doi:10.1038/sj.ejhg.5201938
Dissecting the molecular mechanisms in craniofrontonasal syndrome: differential mRNA expression of mutant EFNB1 and the cellular mosaic FREE
Ilse Wieland, Roman Makarov, William Reardon, Sigrid Tinschert, Alice Goldenberg, Patrick Thierry and Peter Wieacker
Eur J Hum Genet 16: 184-191; advance online publication, November 28, 2007; doi:10.1038/sj.ejhg.5201968
Patient mutations alter ATRX targeting to PML nuclear bodies FREE
Nathalie G Bérubé, Jasmine Healy, Chantal F Medina, Shaobo Wu, Todd Hodgson, Magdalena Jagla and David J Picketts
Eur J Hum Genet 16: 192-201; advance online publication, October 24, 2007; doi:10.1038/sj.ejhg.5201943
Expanded high-resolution genetic study of 109 Swedish families with Alzheimer's disease FREE
Anna Sillén, Jorge Andrade, Lena Lilius, Charlotte Forsell, Karin Axelman, Jacob Odeberg, Bengt Winblad and Caroline Graff
Eur J Hum Genet 16: 202-208; advance online publication, October 24, 2007; doi:10.1038/sj.ejhg.5201946
A unique case of reversion to normal size of a maternal premutation FMR1 allele in a normal boy FREE
Elisabetta Tabolacci, Maria Grazia Pomponi, Roberta Pietrobono, Pietro Chiurazzi and Giovanni Neri
Eur J Hum Genet 16: 209-214; advance online publication, October 31, 2007; doi:10.1038/sj.ejhg.5201949
Instability of expanded CAG/CAA repeats in spinocerebellar ataxia type 17 FREE
Rui Gao, Tohru Matsuura, Mary Coolbaugh, Christine Zühlke, Koichiro Nakamura, Astrid Rasmussen, Michael J Siciliano, Tetsuo Ashizawa and Xi Lin
Eur J Hum Genet 16: 215-222; advance online publication, November 28, 2007; doi:10.1038/sj.ejhg.5201954
The novel hyperekplexia allele GLRA1(S267N) affects the ethanol site of the glycine receptor FREE
Kristina Becker, Hans-Georg Breitinger, Andreas Humeny, Hans-Michael Meinck, Bernd Dietz, Fuat Aksu and Cord-Michael Becker
Eur J Hum Genet 16: 223-228; advance online publication, November 28, 2007; doi:10.1038/sj.ejhg.5201958
Exploration of gene–gene interaction effects using entropy-based methods FREE
Changzheng Dong, Xun Chu, Ying Wang, Yi Wang, Li Jin, Tieliu Shi, Wei Huang and Yixue Li
Eur J Hum Genet 16: 229-235; advance online publication, October 31, 2007; doi:10.1038/sj.ejhg.5201921
A novel sampling design to explore gene-longevity associations: the ECHA study FREE
Francesco De Rango, Serena Dato, Dina Bellizzi, Giuseppina Rose, Erika Marzi, Luca Cavallone, Claudio Franceschi, Axel Skytthe, Bernard Jeune, Amandine Cournil, Jean Marie Robine, Jutta Gampe, James W Vaupel, Vincenzo Mari, Emidio Feraco, Giuseppe Passarino, Andrea Novelletto and Giovanna De Benedictis
Eur J Hum Genet 16: 236-242; advance online publication, November 7, 2007; doi:10.1038/sj.ejhg.5201950
Population genetic diversity of the NAT2 gene supports a role of acetylation in human adaptation to farming in Central Asia FREE
Hélène Magalon, Etienne Patin, Frédéric Austerlitz, Tatyana Hegay, Almaz Aldashev, Lluís Quintana-Murci and Evelyne Heyer
Eur J Hum Genet 16: 243-251; advance online publication, November 28, 2007; doi:10.1038/sj.ejhg.5201963
Haplotype patterns in cancer-related genes with long-range linkage disequilibrium: no evidence of association with breast cancer or positive selection FREE
Gloria Ribas, Roger L Milne, Anna Gonzalez-Neira and Javier Benítez
Eur J Hum Genet 16: 252-260; advance online publication, November 14, 2007; doi:10.1038/sj.ejhg.5201953
Short Reports
A deletion in DRCTNNB1A associated with hypomyelination and juvenile onset cataract FREE
Sibel Aylin Ugur and Asl
han Tolun
Eur J Hum Genet 16: 261-264; advance online publication, October 10, 2007; doi:10.1038/sj.ejhg.5201935
Fifth finger camptodactyly maps to chromosome 3q11.2–q13.12 in a large German kindred FREE
Sajid Malik, Jörg Schott, Julia Schiller, Anna Junge, Erika Baum and Manuela C Koch
Eur J Hum Genet 16: 265-269; advance online publication, November 14, 2007; doi:10.1038/sj.ejhg.5201957
Identification of a nonsense mutation in the very low-density lipoprotein receptor gene (VLDLR) in an Iranian family with dysequilibrium syndrome FREE
Lia Abbasi Moheb, Andreas Tzschach, Masoud Garshasbi, Kimia Kahrizi, Hossein Darvish, Yaser Heshmati, Alireza Kordi, Hossein Najmabadi, Hans Hilger Ropers and Andreas Walter Kuss
Eur J Hum Genet 16: 270-273; advance online publication, November 28, 2007; doi:10.1038/sj.ejhg.5201967
Book Review
All I wanted to know about congenital developmental defects FREE
Albert Schinzel
Eur J Hum Genet 16: 274; doi:10.1038/sj.ejhg.5201939
