TABLE OF CONTENTS
Volume 17, Issue 2 (February 2009)
News and Commentary
Amyotrophic Lateral Sclerosis: Genome-wide association studies in amyotrophic lateral sclerosis FREE
Nicolas Dupré and Paul Valdmanis
Eur J Hum Genet 17: 137-138; advance online publication, November 5, 2008; doi:10.1038/ejhg.2008.205
Practical Genetics
Kallmann syndrome FREE
Catherine Dodé and Jean-Pierre Hardelin
Eur J Hum Genet 17: 139-146; advance online publication, November 5, 2008; doi:10.1038/ejhg.2008.206
Letters
On Jim Watson's APOE status: genetic information is hard to hide
Dale R Nyholt, Chang-En Yu and Peter M Visscher
Eur J Hum Genet 17: 147-149; advance online publication, October 22, 2008; doi:10.1038/ejhg.2008.198
Common inversion polymorphisms and rare microdeletions at 15q13.3
Andrew Makoff and Rachel Flomen
Eur J Hum Genet 17: 149-150; advance online publication, October 15, 2008; doi:10.1038/ejhg.2008.189
Articles
The mutation spectrum in RECQL4 diseases
H Annika Siitonen, Jenni Sotkasiira, Martine Biervliet, Abdelmadjid Benmansour, Yline Capri, Valerie Cormier-Daire, Barbara Crandall, Katariina Hannula-Jouppi, Raoul Hennekam, Denise Herzog, Kathelijn Keymolen, Marita Lipsanen-Nyman, Peter Miny, Sharon E Plon, Stefan Riedl, Ajoy Sarkar, Fernando R Vargas, Alain Verloes, Lisa L Wang, Helena Kääriäinen and Marjo Kestilä
Eur J Hum Genet 17: 151-158; advance online publication, August 20, 2008; doi:10.1038/ejhg.2008.154
Compound heterozygosity for two MSH2 mutations suggests mild consequences of the initiation codon variant c.1A>G of MSH2
Carolien M Kets, Nicoline Hoogerbrugge, Joannes H J M van Krieken, Monique Goossens, Han G Brunner and Marjolijn J L Ligtenberg
Eur J Hum Genet 17: 159-164; advance online publication, September 10, 2008; doi:10.1038/ejhg.2008.153
Long-term outcome of presymptomatic testing in Huntington disease
Marcela Gargiulo, Séverine Lejeune, Marie-Laure Tanguy, Khadija Lahlou-Laforêt, Anne Faudet, David Cohen, Josué Feingold and Alexandra Durr
Eur J Hum Genet 17: 165-171; advance online publication, August 20, 2008; doi:10.1038/ejhg.2008.146
A mitochondrial mutation A4401G is involved in the pathogenesis of left ventricular hypertrophy in Chinese hypertensives
Hai-Yan Zhu, Shi-Wen Wang, Li Liu, Yan-Hua Li, Rui Chen, Lin Wang and C James Holliman
Eur J Hum Genet 17: 172-178; advance online publication, August 13, 2008; doi:10.1038/ejhg.2008.151
A familial inverted duplication/deletion of 2p25.1–25.3 provides new clues on the genesis of inverted duplications
Maria Clara Bonaglia, Roberto Giorda, Angelo Massagli, Rita Galluzzi, Roberto Ciccone and Orsetta Zuffardi
Eur J Hum Genet 17: 179-186; advance online publication, September 24, 2008; doi:10.1038/ejhg.2008.160
Expansion of mutation spectrum, determination of mutation cluster regions and predictive structural classification of SPAST mutations in hereditary spastic paraplegia
Moneef Shoukier, Juergen Neesen, Simone M Sauter, Loukas Argyriou, Nadine Doerwald, DV Krishna Pantakani and Ashraf U Mannan
Eur J Hum Genet 17: 187-194; advance online publication, August 13, 2008; doi:10.1038/ejhg.2008.147
Genomic screening identifies novel linkages and provides further evidence for a role of MYH9 in nonsyndromic cleft lip and palate
Brett T Chiquet, Syed S Hashmi, Robin Henry, Amber Burt, John B Mulliken, Samuel Stal, Molly Bray, Susan H Blanton and Jacqueline T Hecht
Eur J Hum Genet 17: 195-204; advance online publication, August 20, 2008; doi:10.1038/ejhg.2008.149
A novel missense RAG-1 mutation results in T-B-NK+ SCID in Athabascan-speaking Dine Indians from the Canadian Northwest Territories
Zheng Xiao, Steven M Yannone, Elizabeth Dunn and Morton J Cowan
Eur J Hum Genet 17: 205-212; advance online publication, August 13, 2008; doi:10.1038/ejhg.2008.150
Screening for replication of genome-wide SNP associations in sporadic ALS
Simon Cronin, Barbara Tomik, Daniel G Bradley, Agnieszka Slowik and Orla Hardiman
Eur J Hum Genet 17: 213-218; advance online publication, November 5, 2008; doi:10.1038/ejhg.2008.194
Natural selection and the molecular basis of electrophoretic variation at the coagulation F13B locus
Anthony W Ryan, David A Hughes, Kun Tang, Dermot P Kelleher, Thomas Ryan, Ross McManus and Mark Stoneking
Eur J Hum Genet 17: 219-227; advance online publication, August 20, 2008; doi:10.1038/ejhg.2008.137
The DLX1and DLX2 genes and susceptibility to autism spectrum disorders
Xudong Liu, Natalia Novosedlik, Ami Wang, Melissa L Hudson, Ira L Cohen, Albert E Chudley, Cynthia J Forster-Gibson, Suzanne M E Lewis and Jeanette J A Holden
Eur J Hum Genet 17: 228-235; advance online publication, August 27, 2008; doi:10.1038/ejhg.2008.148
Meta-analysis of genome-wide linkage studies across autoimmune diseases
Paola Forabosco, Emmanuelle Bouzigon, Mandy Y Ng, Jane Hermanowski, Sheila A Fisher, Lindsey A Criswell and Cathryn M Lewis
Eur J Hum Genet 17: 236-243; advance online publication, September 10, 2008; doi:10.1038/ejhg.2008.163
The E-cadherin (CDH1) -160 C/A polymorphism and prostate cancer risk: a meta-analysis
Li-Xin Qiu, Ru-Tian Li, Jian-Bing Zhang, Wen-Zhao Zhong, Jian-Ling Bai, Bao-Rui Liu, Ming-Hua Zheng and Xiao-Ping Qian
Eur J Hum Genet 17: 244-249; advance online publication, September 10, 2008; doi:10.1038/ejhg.2008.157
Association between the candidate susceptibility gene ACVR2A on chromosome 2q22 and pre-eclampsia in a large Norwegian population-based study (the HUNT study)
Linda T Roten, Matthew P Johnson, Siri Forsmo, Elizabeth Fitzpatrick, Thomas D Dyer, Shaun P Brennecke, John Blangero, Eric K Moses and Rigmor Austgulen
Eur J Hum Genet 17: 250-257; advance online publication, September 10, 2008; doi:10.1038/ejhg.2008.158
Genome-wide linkage screen for stature and body mass index in 3.032 families: evidence for sex- and population-specific genetic effects
Sampo Sammalisto, Tero Hiekkalinna, Karen Schwander, Sharon Kardia, Alan B Weder, Beatriz L Rodriguez, Alessandro Doria, Jennifer A Kelly, Gail R Bruner, John B Harley, Susan Redline, Emma K Larkin, Sanjay R Patel, Amy JH Ewan, James L Weber, Markus Perola and Leena Peltonen
Eur J Hum Genet 17: 258-266; advance online publication, September 10, 2008; doi:10.1038/ejhg.2008.152
Short Report
PTCH1 duplication in a family with microcephaly and mild developmental delay
Katarzyna Derwi
ska, Marta Smyk, Mitchell Lance Cooper, Patricia Bader, Sau Wai Cheung and Pawe
Stankiewicz
Eur J Hum Genet 17: 267-271; advance online publication, October 1, 2008; doi:10.1038/ejhg.2008.176
