TABLE OF CONTENTS
Volume 17, Issue 3 (March 2009)
News and Commentary
Paternal care and imprinting
Of wolves and men: the role of paternal child care in the evolution of genomic imprinting FREE
Bernhard Horsthemke
Eur J Hum Genet 17: 273-274; advance online publication, November 26, 2008; doi:10.1038/ejhg.2008.211
Practical Genetics
Treacher Collins syndrome: etiology, pathogenesis and prevention FREE
Paul A Trainor, Jill Dixon and Michael J Dixon
Eur J Hum Genet 17: 275-283; advance online publication, December 24, 2008; doi:10.1038/ejhg.2008.221
Letter
Does epidermal thickening explain GJB2 high carrier frequency and heterozygote advantage?
Pio D'Adamo, Veronica Ileana Guerci, Antonella Fabretto, Flavio Faletra, Domenico Leonardo Grasso, Luca Ronfani, Marcella Montico, Marcello Morgutti, PierPaolo Guastalla and Paolo Gasparini
Eur J Hum Genet 17: 284-286; advance online publication, December 3, 2008; doi:10.1038/ejhg.2008.225
Articles
H1 haplotype of the MAPT gene is associated with lower regional gray matter volume in healthy carriers
Elisa Canu, Marina Boccardi, Roberta Ghidoni, Luisa Benussi, Cristina Testa, Michela Pievani, Matteo Bonetti, Giuliano Binetti and Giovanni B Frisoni
Eur J Hum Genet 17: 287-294; advance online publication, October 15, 2008; doi:10.1038/ejhg.2008.185
Decreasing uptake of predictive testing for Huntington's disease in a German centre: 12 years' experience (1993–2004)
Christiane Bernhardt, Anne-Marie Schwan, Peter Kraus, Joerg Thomas Epplen and Erdmute Kunstmann
Eur J Hum Genet 17: 295-300; advance online publication, September 10, 2008; doi:10.1038/ejhg.2008.164
A reliable cell-based assay for testing unclassified TSC2 gene variants
Ricardo Coevoets, Sermin Arican, Marianne Hoogeveen-Westerveld, Erik Simons, Ans van den Ouweland, Dicky Halley and Mark Nellist
Eur J Hum Genet 17: 301-310; advance online publication, October 15, 2008; doi:10.1038/ejhg.2008.184
Mutational analysis of the ACVR1 gene in Italian patients affected with fibrodysplasia ossificans progressiva: confirmations and advancements
Renata Bocciardi, Domenico Bordo, Marco Di Duca, Maja Di Rocco and Roberto Ravazzolo
Eur J Hum Genet 17: 311-318; advance online publication, October 1, 2008; doi:10.1038/ejhg.2008.178
Missense mutations to the TSC1 gene cause tuberous sclerosis complex
Mark Nellist, Diana van den Heuvel, Diane Schluep, Carla Exalto, Miriam Goedbloed, Anneke Maat-Kievit, Ton van Essen, Karin van Spaendonck-Zwarts, Floor Jansen, Paula Helderman, Gabriella Bartalini, Outi Vierimaa, Maila Penttinen, Jenneke van den Ende, Ans van den Ouweland and Dicky Halley
Eur J Hum Genet 17: 319-328; advance online publication, October 1, 2008; doi:10.1038/ejhg.2008.170
Variations in HSP70 genes associated with noise-induced hearing loss in two independent populations
Annelies Konings, Lut Van Laer, Sophie Michel, Malgorzata Pawelczyk, Per-Inge Carlsson, Marie-Louise Bondeson, Elzbieta Rajkowska, Adam Dudarewicz, Ann Vandevelde, Erik Fransen, Jeroen Huyghe, Erik Borg, Mariola Sliwinska-Kowalska and Guy Van Camp
Eur J Hum Genet 17: 329-335; advance online publication, September 24, 2008; doi:10.1038/ejhg.2008.172
Fine-mapping and candidate gene investigation within the PARK10 locus
Kristoffer Haugarvoll, Mathias Toft, Lisa Skipper, Michael G Heckman, Julia E Crook, Alexandra Soto, Owen A Ross, Mary M Hulihan, Jennifer M Kachergus, Sigrid B Sando, Linda R White, Timothy Lynch, J Mark Gibson, Ryan J Uitti, Zbigniew K Wszolek, Jan O Aasly and Matthew J Farrer
Eur J Hum Genet 17: 336-343; advance online publication, October 15, 2008; doi:10.1038/ejhg.2008.187
Mutations in mammalian tolloid-like 1 gene detected in adult patients with ASD
Pawe
Sta
czak, Joanna Witecka, Anna Szydo, Ewa Gutmajster, Magorzata Lisik, Aleksandra Augu
ciak-Duma, Maciej Tarnowski, Tomasz Czekaj, Hanna Czekaj and Aleksander L Siero
Eur J Hum Genet 17: 344-351; advance online publication, October 1, 2008; doi:10.1038/ejhg.2008.175
STAT3 single-nucleotide polymorphisms and STAT3 mutations associated with hyper-IgE syndrome are not responsible for increased serum IgE serum levels in asthma families
Matthias Wjst, Peter Lichtner, Thomas Meitinger and Bodo Grimbacher
Eur J Hum Genet 17: 352-356; advance online publication, October 8, 2008; doi:10.1038/ejhg.2008.169
Lactase persistence-related genetic variant: population substructure and health outcomes
George Davey Smith, Debbie A Lawlor, Nic J Timpson, Jamil Baban, Matt Kiessling, Ian N M Day and Shah Ebrahim
Eur J Hum Genet 17: 357-367; advance online publication, September 17, 2008; doi:10.1038/ejhg.2008.156
Identification of a prostate cancer susceptibility gene on chromosome 5p13q12 associated with risk of both familial and sporadic disease
Liesel M FitzGerald, Briony Patterson, Russell Thomson, Andrea Polanowski, Stephen Quinn, Jesper Brohede, Timothy Thornton, David Challis, David A Mackey, Terence Dwyer, Simon Foote, Garry N Hannan, James Stankovich, James D McKay and Joanne L Dickinson
Eur J Hum Genet 17: 368-377; advance online publication, October 1, 2008; doi:10.1038/ejhg.2008.171
Short Reports
Early myoclonic encephalopathy caused by a disruption of the neuregulin-1 receptor ErbB4
Liesbeth Backx, Berten Ceulemans, Joris Robert Vermeesch, Koen Devriendt and Hilde Van Esch
Eur J Hum Genet 17: 378-382; advance online publication, October 15, 2008; doi:10.1038/ejhg.2008.180
SNP frequency estimation using massively parallel sequencing of pooled DNA
Max Ingman and Ulf Gyllensten
Eur J Hum Genet 17: 383-386; advance online publication, October 15, 2008; doi:10.1038/ejhg.2008.182
A new mutation in the AFP gene responsible for a total absence of alpha feto-protein on second trimester maternal serum screening for Down syndrome
François M Petit, Marylise Hébert, Olivier Picone, Sophie Brisset, Marie-Laure Maurin, Frédéric Parisot, Liliane Capel, Clarisse Benattar, Marie-Victoire Sénat, Gérard Tachdjian and Philippe Labrune
Eur J Hum Genet 17: 387-390; advance online publication, October 15, 2008; doi:10.1038/ejhg.2008.186
Sequence variant on 9p21 is associated with the presence of abdominal aortic aneurysm disease but does not have an impact on aneurysmal expansion
Andrew R Thompson, Jonathan Golledge, Jackie A Cooper, Hany Hafez, Paul E Norman and Steve E Humphries
Eur J Hum Genet 17: 391-394; advance online publication, October 15, 2008; doi:10.1038/ejhg.2008.196
A large-scale mutation search reveals genetic heterogeneity in 3M syndrome
Céline Huber, Anee-Lise Delezoide, Fabien Guimiot, Clarisse Baumann, Valérie Malan, Martine Le Merrer, Daniela Bezerra Da Silva, Dominique Bonneau, Pierre Chatelain, Carol Chu, Robin Clark, Helen Cox, Patrick Edery, Thomas Edouard, Virginia Fano, Kate Gibson, Gabriele Gillessen-Kaesbach, Maria-Luisa Giovannucci-Uzielli, Luitgard Margarete Graul-Neumann, Johana-Maria van Hagen, Liselot van Hest, Dafne Horovitz, Judith Melki, Carl-Joachim Partsch, Henry Plauchu, Anna Rajab, Massimiliano Rossi, David Sillence, Elisabeth Steichen-Gersdorf, Helen Stewart, Sheila Unger, Martin Zenker, Arnold Munnich and Valérie Cormier-Daire
Eur J Hum Genet 17: 395-400; advance online publication, October 29, 2008; doi:10.1038/ejhg.2008.200
Corrigenda
Expansion of mutation spectrum, determination of mutation cluster regions and predictive structural classification of SPAST mutations in hereditary spastic paraplegia FREE
Moneef Shoukier, Juergen Neesen, Simone M Sauter, Loukas Argyriou, Nadine Doerwald, DV Krishna Pantakani and Ashraf U Mannan
Eur J Hum Genet 17: 401-402; doi:10.1038/ejhg.2008.218
Array-CGH fine mapping of minor and cryptic HR-CGH detected genomic imbalances in 80 out of 590 patients with abnormal development FREE
Helle Lybæk, Leonardo A Meza-Zepeda, Stine H Kresse, Trude Høysæter, Vidar M Steen and Gunnar Houge
Eur J Hum Genet 17: 402; doi:10.1038/ejhg.2008.173
