TABLE OF CONTENTS

Volume 13, Issue 3 (March 2005)

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News and Commentaries

Genomics: The human genome, revisited FREE

Gert-Jan B van Ommen

Eur J Hum Genet 13: 265-267; advance online publication, December 8, 2004; doi:10.1038/sj.ejhg.5201348

Evolutionary Genetics: Genetics of lactase persistence – fresh lessons in the history of milk drinking FREE

Edward Hollox

Eur J Hum Genet 13: 267-269; advance online publication, December 15, 2004; doi:10.1038/sj.ejhg.5201297

Statistical Genetics: Usual suspects in complex disease FREE

C P Ponting and L Goodstadt

Eur J Hum Genet 13: 269-270; advance online publication, December 15, 2004; doi:10.1038/sj.ejhg.5201354

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Obituary

Margareta Mikkelsen, 4 November 1923–28 June 2004 FREE

Patricia A Jacobs and Karen Brondum-Nielsen

Eur J Hum Genet 13: 271-272; advance online publication, December 1, 2004; doi:10.1038/sj.ejhg.5201338

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Articles

Mosaic imprinting defect in a patient with an almost typical expression of the Prader–Willi syndrome FREE

Eva Wey, Deborah Bartholdi, Mariluce Riegel, Hülya Nazlican, Bernhard Horsthemke, Albert Schinzel and Alessandra Baumer

Eur J Hum Genet 13: 273-277; advance online publication, December 1, 2004; doi:10.1038/sj.ejhg.5201337

Paternal isodisomy for chromosome 2 as the cause of Crigler–Najjar type I syndrome FREE

François M Petit, Vincent Gajdos, Frédéric Parisot, Liliane Capel, Azzedine Aboura, Alain Lachaux, Gérard Tachdjian, Christian Poüs and Philippe Labrune

Eur J Hum Genet 13: 278-282; advance online publication, December 8, 2004; doi:10.1038/sj.ejhg.5201342

Segmental haplosufficiency: transmitted deletions of 2p12 include a pancreatic regeneration gene cluster and have no apparent phenotypic consequences FREE

John C K Barber, N Simon Thomas, Morag N Collinson, Nick R Dennis, Thomas Liehr, Anja Weise, Britta Belitz, Lutz Pfeiffer, Maria Kirchhoff, Bente Krag-Olsen and Claes Lundsteen

Eur J Hum Genet 13: 283-291; advance online publication, December 22, 2004; doi:10.1038/sj.ejhg.5201267

Mutations in the known genes are not the major cause of MED; distinctive phenotypic entities among patients with no identified mutations FREE

Eveliina Jakkula, Outi Mäkitie, Malwina Czarny-Ratacjzak, Gail C Jackson, Rita Damignani, Miki Susic, Michael D Briggs, William G Cole and Leena Ala-Kokko

Eur J Hum Genet 13: 292-301; advance online publication, November 3, 2004; doi:10.1038/sj.ejhg.5201314

CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsia FREE

Susanne Kohl, Balazs Varsanyi, Gesine Abadin Antunes, Britta Baumann, Carel B Hoyng, Herbert Jägle, Thomas Rosenberg, Ulrich Kellner, Birgit Lorenz, Roberto Salati, Bernhard Jurklies, Agnes Farkas, Sten Andreasson, Richard G Weleber, Samuel G Jacobson, Günther Rudolph, Claudio Castellan, Helene Dollfus, Eric Legius, Mario Anastasi, Pierre Bitoun, Dorit Lev, Paul A Sieving, Francis L Munier, Eberhart Zrenner, Lindsay T Sharpe, Frans P M Cremers and Bernd Wissinger

Eur J Hum Genet 13: 302-308; advance online publication, December 15, 2004; doi:10.1038/sj.ejhg.5201269

Somatic mosaicism for a heterozygous deletion of the survival motor neuron (SMN1) gene FREE

Thomas Eggermann, Klaus Zerres, Dirk Anhuf, Dieter Kotzot, Christine Fauth and Sabine Rudnik-Schöneborn

Eur J Hum Genet 13: 309-313; advance online publication, December 8, 2004; doi:10.1038/sj.ejhg.5201268

MVK mutations and associated clinical features in Italian patients affected with autoinflammatory disorders and recurrent fever FREE

Andrea D'Osualdo, Paolo Picco, Francesco Caroli, Marco Gattorno, Raffaella Giacchino, Patrizia Fortini, Fabrizia Corona, Alberto Tommasini, Giuseppe Salvi, Fernando Specchia, Laura Obici, Antonella Meini, Antonio Ricci, Marco Seri, Roberto Ravazzolo, Alberto Martini and Isabella Ceccherini

Eur J Hum Genet 13: 314-320; advance online publication, November 10, 2004; doi:10.1038/sj.ejhg.5201323

FHR-4A: a new factor H-related protein is encoded by the human FHR-4 gene FREE

Mihály Józsi, Heiko Richter, Ina Löschmann, Christine Skerka, Friedrich Buck, Ulrike Beisiegel, Anna Erdei and Peter F Zipfel

Eur J Hum Genet 13: 321-329; advance online publication, November 24, 2004; doi:10.1038/sj.ejhg.5201324

A neurological phenotype in nail patella syndrome (NPS) patients illuminated by studies of murine Lmx1b expression FREE

Jennifer A Dunston, Tyler Reimschisel, Yu-Qiang Ding, Elizabeth Sweeney, Randy L Johnson, Zhou-Feng Chen and Iain McIntosh

Eur J Hum Genet 13: 330-335; advance online publication, November 24, 2004; doi:10.1038/sj.ejhg.5201332

Possible role of USP26 in patients with severely impaired spermatogenesis FREE

Katrien Stouffs, Willy Lissens, Herman Tournaye, André Van Steirteghem and Inge Liebaers

Eur J Hum Genet 13: 336-340; advance online publication, November 24, 2004; doi:10.1038/sj.ejhg.5201335

Haplotype structure of the beta adrenergic receptor genes in US Caucasians and African Americans FREE

Inna Belfer, Beata Buzas, Catherine Evans, Heather Hipp, Gabriel Phillips, Julie Taubman, Ilona Lorincz, Robert H Lipsky, Mary-Anne Enoch, Mitchell B Max and David Goldman

Eur J Hum Genet 13: 341-351; advance online publication, November 3, 2004; doi:10.1038/sj.ejhg.5201313

A genomewide linkage analysis for prostate cancer susceptibility genes in families from Germany FREE

Christiane Maier, Kathleen Herkommer, Josef Hoegel, Walther Vogel and Thomas Paiss

Eur J Hum Genet 13: 352-360; advance online publication, November 10, 2004; doi:10.1038/sj.ejhg.5201333

Quantification of allele-specific G-protein beta3 subunit mRNA transcripts in different human cells and tissues by Pyrosequencing FREE

Aijun Sun, Junbo Ge, Winfried Siffert and Ulrich H Frey

Eur J Hum Genet 13: 361-369; advance online publication, November 10, 2004; doi:10.1038/sj.ejhg.5201334

Epistatic interaction between the monoamine oxidase A and serotonin transporter genes in anorexia nervosa FREE

Ruth Elizabeth Urwin and Kenneth Patrick Nunn

Eur J Hum Genet 13: 370-375; advance online publication, November 3, 2004; doi:10.1038/sj.ejhg.5201328

Information and informed consent in a longitudinal screening involving children: a questionnaire survey FREE

Ulrica Gustafsson Stolt, Gert Helgesson, Per-Erik Liss, Tommy Svensson and Johnny Ludvigsson

Eur J Hum Genet 13: 376-383; advance online publication, December 15, 2004; doi:10.1038/sj.ejhg.5201336

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Short Reports

Mutations including the promoter region of myocilin/TIGR gene FREE

Maria Saura, Montse Cabana, Carmen Ayuso and Diana Valverde

Eur J Hum Genet 13: 384-387; advance online publication, October 13, 2004; doi:10.1038/sj.ejhg.5201299

Y chromosome evidence for a founder effect in Ashkenazi Jews FREE

Almut Nebel, Dvora Filon, Marina Faerman, Himla Soodyall and Ariella Oppenheim

Eur J Hum Genet 13: 388-391; advance online publication, November 3, 2004; doi:10.1038/sj.ejhg.5201319

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