TABLE OF CONTENTS
Volume 13, Issue 1 (January 2005)
Editorial
New year, new faces and new copy FREE
GertJan B van Ommen Editor-in-Chief
Eur J Hum Genet 13: 1; doi:10.1038/sj.ejhg.5201346
News and Commentary
Screening for FXTAS FREE
Sébastien Jacquemont
Eur J Hum Genet 13: 2-3; advance online publication, October 20, 2004; doi:10.1038/sj.ejhg.5201318
Duchenne Muscular Dystrophy: Stalled at the junction? FREE
Laurent Ségalat and Judy E Anderson
Eur J Hum Genet 13: 4-5; advance online publication, October 13, 2004; doi:10.1038/sj.ejhg.5201304
Review
Diagnostic investigations in individuals with mental retardation: a systematic literature review of their usefulness FREE
Clara D M van Karnebeek, Maaike C E Jansweijer, Arnold G E Leenders, Martin Offringa and Raoul C M Hennekam
Eur J Hum Genet 13: 6-25; advance online publication, November 3, 2004; doi:10.1038/sj.ejhg.5201279
Papers
Mitochondrial DNA mutations in patients with postlingual, nonsyndromic hearing impairment FREE
Howard T Jacobs, Timothy P Hutchin, Timo Käppi, Greta Gillies, Kia Minkkinen, John Walker, Karen Thompson, Anja T Rovio, Massimo Carella, Salvatore Melchionda, Leopoldo Zelante, Paolo Gasparini, Ilmari Pyykkö, Zahid H Shah, Massimo Zeviani and Robert F Mueller
Eur J Hum Genet 13: 26-33; advance online publication, August 4, 2004; doi:10.1038/sj.ejhg.5201250
Situs ambiguus in a female fetus with balanced (X;21) translocation – evidence for functional nullisomy of the ZIC3 gene? FREE
Barbara Fritz, Jürgen Kunz, Gun Peggy Strømstad Knudsen, Frank Louwen, Ingo Kennerknecht, Bernd Eiben, Karen Helene Ørstavik, Ursula Friedrich and Helga Rehder
Eur J Hum Genet 13: 34-40; advance online publication, October 6, 2004; doi:10.1038/sj.ejhg.5201213
Subcellular distribution of HP1 proteins is altered in ICF syndrome FREE
Judith J Luciani, Danielle Depetris, Chantal Missirian, Cécile Mignon-Ravix, Catherine Metzler-Guillemain, André Megarbane, Anne Moncla and Marie-Geneviève Mattei
Eur J Hum Genet 13: 41-51; advance online publication, October 6, 2004; doi:10.1038/sj.ejhg.5201293
Familial pericentric inversion of chromosome 18: behavioral abnormalities in patients heterozygous for either the dup(18p)/del(18q) or dup(18q)/del(18p) recombinant chromosome FREE
Stefan J Vermeulen, Frank Speleman, Leen Vanransbeeck, Jasmien Verspeet, Björn Menten, Marie-Rose Verschraegen-Spae, Philippe De Wilde, Ludwine Messiaen, Ron C Michaelis and Jules G Leroy
Eur J Hum Genet 13: 52-58; advance online publication, October 6, 2004; doi:10.1038/sj.ejhg.5201281
Distinct effects of single amino-acid changes to tuberin on the function of the tuberin–hamartin complex FREE
Mark Nellist, Ozgur Sancak, Miriam A Goedbloed, Christan Rohe, Diana van Netten, Karin Mayer, Aimee Tucker-Williams, Ans M W van den Ouweland and Dicky J J Halley
Eur J Hum Genet 13: 59-68; advance online publication, October 13, 2004; doi:10.1038/sj.ejhg.5201276
Genotype-based screening for hereditary haemochromatosis. I: Technical performance, costs and clinical relevance of a German pilot study FREE
Manfred Stuhrmann, Christian Strassburg and Jörg Schmidtke
Eur J Hum Genet 13: 69-78; advance online publication, October 13, 2004; doi:10.1038/sj.ejhg.5201287
Overdispersion of allele frequency differences between populations: implications for meta-analyses of genotypic disease associations FREE
Cliona M Molony, Anthony P Fitzgerald and Denis C Shields
Eur J Hum Genet 13: 79-85; advance online publication, October 6, 2004; doi:10.1038/sj.ejhg.5201275
Single-nucleotide polymorphisms in genes relating to homocysteine metabolism: how applicable are public SNP databases to a typical European population? FREE
Bohumila Jano
íková, Petra Zavadáková and Viktor Ko
ich
Eur J Hum Genet 13: 86-95; advance online publication, October 20, 2004; doi:10.1038/sj.ejhg.5201282
Fc
receptor IIA genotype and susceptibility to P. aeruginosa infection in patients with cystic fibrosis FREE
Virginia De Rose, Carlo Arduino, Nazario Cappello, Rita Piana, Paola Salmin, Marco Bardessono, Manuela Goia, Rita Padoan, Elisabetta Bignamini, Diana Costantini, Giovanna Pizzamiglio, Veronica Bennato, Carla Colombo, AnnaMaria Giunta and Alberto Piazza
Eur J Hum Genet 13: 96-101; advance online publication, September 15, 2004; doi:10.1038/sj.ejhg.5201285
Interaction between obesity-susceptibility loci in chromosome regions 2p25-p24 and 13q13-q21 FREE
Chuanhui Dong, Wei-Dong Li, Ding Li and R Arlen Price
Eur J Hum Genet 13: 102-108; advance online publication, October 6, 2004; doi:10.1038/sj.ejhg.5201292
Biological variations, genetic polymorphisms and familial resemblance of TNF-
and IL-6 concentrations: STANISLAS cohort FREE
Nadia Haddy, Catherine Sass, Sandy Maumus, Bérangère Marie, Suzanne Droesch, Gérard Siest, Daniel Lambert and Sophie Visvikis
Eur J Hum Genet 13: 109-117; advance online publication, November 3, 2004; doi:10.1038/sj.ejhg.5201294
Short Reports
Mutation analysis in the fibroblast growth factor 14 gene: frameshift mutation and polymorphisms in patients with inherited ataxias FREE
Andreas Dalski, Jassemien Atici, Friedmar R Kreuz, Yorck Hellenbroich, Eberhard Schwinger and Christine Zühlke
Eur J Hum Genet 13: 118-120; advance online publication, October 6, 2004; doi:10.1038/sj.ejhg.5201286
Screening for FMR-1 premutations in 122 older Flemish males presenting with ataxia FREE
Hilde Van Esch, Rene Dom, Dorien Bex, Ivo Salden, Jo Caeckebeke, Alain Wibail, Martine Borghgraef, Eric Legius, Jean-Pierre Fryns and Gert Matthijs
Eur J Hum Genet 13: 121-123; advance online publication, October 13, 2004; doi:10.1038/sj.ejhg.5201312
Variation in exon 1 coding region and promoter of MECP2 in Rett syndrome and controls FREE
Julie C Evans, Hayley L Archer, Sharon D Whatley, Alison Kerr, Angus Clarke and Rachel Butler
Eur J Hum Genet 13: 124-126; advance online publication, September 15, 2004; doi:10.1038/sj.ejhg.5201270
Family-based association study of DYX1C1 variants in autism FREE
Tero Ylisaukko-oja, Myriam Peyrard-Janvid, Cecilia M Lindgren, Karola Rehnström, Raija Vanhala, Leena Peltonen, Irma Järvelä and Juha Kere
Eur J Hum Genet 13: 127-130; advance online publication, October 6, 2004; doi:10.1038/sj.ejhg.5201272
