TABLE OF CONTENTS
Volume 12, Issue 1 (January 2004)
Editorial
Electronic EJHG: The Web and the Wider World FREE
Gert Jan B van Ommen Editor
Eur J Hum Genet 12: 1; doi:10.1038/sj.ejhg.5201139
Review
Spinocerebellar ataxia type 7 associated with pigmentary retinal dystrophy FREE
A Michalik, J-J Martin and C Van Broeckhoven
Eur J Hum Genet 12: 2-15; advance online publication, October 22, 2003; doi:10.1038/sj.ejhg.5201108
Articles
Phenotypic and molecular characterisation of the Aarskog–Scott syndrome: a survey of the clinical variability in light of FGD1 mutation analysis in 46 patients FREE
Alfredo Orrico, Lucia Galli, Maria Luigia Cavaliere, Livia Garavelli, Jean-Pierre Fryns, Ellen Crushell, Maria Michela Rinaldi, Ana Medeira and Vincenzo Sorrentino
Eur J Hum Genet 12: 16-23; advance online publication, October 15, 2003; doi:10.1038/sj.ejhg.5201081
MECP2 analysis in mentally retarded patients: implications for routine DNA diagnostics FREE
Tjitske Kleefstra, Helger G Yntema, Willy M Nillesen, Astrid R Oudakker, Reinier A Mullaart, Niels Geerdink, Hans van Bokhoven, Bert BA de Vries, Erik A Sistermans and Ben CJ Hamel
Eur J Hum Genet 12: 24-28; advance online publication, October 15, 2003; doi:10.1038/sj.ejhg.5201080
A comparative expression analysis of four MRX genes regulating intracellular signalling via small GTPases FREE
Matthias Kohn, Peter Steinbach, Horst Hameister and Hildegard Kehrer-Sawatzki
Eur J Hum Genet 12: 29-37; advance online publication, December 3, 2003; doi:10.1038/sj.ejhg.5201085
Limb-girdle muscular dystrophy 2I: phenotypic variability within a large consanguineous Bedouin family associated with a novel FKRP mutation FREE
Tamar Harel, Yael Goldberg, Stavit A Shalev, Ilana Chervinski, Rivka Ofir and Ohad S Birk
Eur J Hum Genet 12: 38-43; advance online publication, October 1, 2003; doi:10.1038/sj.ejhg.5201087
Six novel mutations in the arginine vasopressin gene in 15 kindreds with autosomal dominant familial neurohypophyseal diabetes insipidus give further insight into the pathogenesis FREE
Jane H Christensen, Charlotte Siggaard, Thomas J Corydon, Luisa deSanctis, Laszlo Kovacs, Gary L Robertson, Niels Gregersen and Søren Rittig
Eur J Hum Genet 12: 44-51; advance online publication, December 3, 2003; doi:10.1038/sj.ejhg.5201086
Frequency and parental origin of de novo APC mutations in familial adenomatous polyposis FREE
Stefan Aretz, Siegfried Uhlhaas, Reiner Caspari, Elisabeth Mangold, Constanze Pagenstecher, Peter Propping and Waltraut Friedl
Eur J Hum Genet 12: 52-58; advance online publication, October 1, 2003; doi:10.1038/sj.ejhg.5201088
Phenylbutyrate increases SMN expression in vitro: relevance for treatment of spinal muscular atrophy FREE
Catia Andreassi, Carla Angelozzi, Francesco D Tiziano, Tiziana Vitali, Eleonora De Vincenzi, Alma Boninsegna, Marcello Villanova, Enrico Bertini, Antonella Pini, Giovanni Neri and Christina Brahe
Eur J Hum Genet 12: 59-65; advance online publication, October 22, 2003; doi:10.1038/sj.ejhg.5201102
SLC11A1 (formerly NRAMP1) and susceptibility to visceral leishmaniasis in The Sudan FREE
Hiba Salah Mohamed, Muntaser Eltayeb Ibrahim, Elinor Nancy Miller, Jacqueline Katie White, Heather Jane Cordell, Joanna McCammond McGill Howson, Christopher Sean Peacock, Eltahir Awad Gasim Khalil, Ahmed Mohamed El Hassan and Jenefer Mary Blackwell
Eur J Hum Genet 12: 66-74; advance online publication, October 1, 2003; doi:10.1038/sj.ejhg.5201089
Short Reports
Absence of COCH mutations in patients with Meniere disease FREE
Elena Sanchez, Jose A López-Escámez, Miguel A López-Nevot, Alicia López-Nevot, Rosario Cortes and Javier Martin
Eur J Hum Genet 12: 75-78; doi:10.1038/sj.ejhg.5201065
Cosegregation of two unlinked mutant alleles in some cases of autosomal dominant familial exudative vitreoretinopathy FREE
B S Shastry and M T Trese
Eur J Hum Genet 12: 79-82; advance online publication, October 15, 2003; doi:10.1038/sj.ejhg.5201093
Erratum
Y chrosomal heritage of Croatian population and its island isolates FREE
Lovorka Bara
, Marijana Peri
i, Irena Martinovi Klari, Siiri Rootsi, Branka Janiijevi, Toomas Kivisild, Jüri Parik, Igor Rudan, Richard Villems and Pavao Rudan
Eur J Hum Genet 12: 83; doi:10.1038/sj.ejhg.5201141
