TABLE OF CONTENTS

Volume 13, Issue 1 (January 2005)

Top

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

Top

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

Top

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

Top

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 Janos caroníková, Petra Zavadáková and Viktor Koz caronich

Eur J Hum Genet 13: 86-95; advance online publication, October 20, 2004; doi:10.1038/sj.ejhg.5201282

Fcbold italic gamma 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-alpha 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

Top

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

Extra navigation

.

natureevents

ADVERTISEMENT