TABLE OF CONTENTS

Volume 16, Issue 3 (March 2008)

Top

Letter

Novel FGFR3 mutations in exon 7 and implications for expanded screening of achondroplasia and hypochondroplasia: a response to Heuertz et al  FREE

Michael J Friez and Joseph A P Wilson

Eur J Hum Genet 16: 277-278; advance online publication, September 26, 2007; doi:10.1038/sj.ejhg.5201931

Top

Articles

Engagement with genetic discrimination: concerns and experiences in the context of Huntington disease FREE

Yvonne Bombard, Elizabeth Penziner, Oksana Suchowersky, Mark Guttman, Jane S Paulsen, Joan L Bottorff and Michael R Hayden

Eur J Hum Genet 16: 279-289; advance online publication, October 24, 2007; doi:10.1038/sj.ejhg.5201937

Provision and quality assurance of preimplantation genetic diagnosis in Europe FREE

Anniek Corveleyn, Michael A Morris, Elisabeth Dequeker, Karen Sermon, James Lawford Davies, Guillermo Antiñolo, Andreas Schmutzler, Jiri Vanecek, Nick Nagels, Eleni Zika, Francesc Palau and Dolores Ibarreta

Eur J Hum Genet 16: 290-299; advance online publication, December 19, 2007; doi:10.1038/sj.ejhg.5201976

Primary non-syndromic lymphoedema (Meige disease) is not caused by mutations in FOXC2  FREE

Tayebeh Rezaie, Rose Ghoroghchian, Rachel Bell, Glen Brice, Ali Hasan, Kevin Burnand, Steve Vernon, Sahar Mansour, Peter Mortimer, Steve Jeffery, Anne Child and Mansoor Sarfarazi

Eur J Hum Genet 16: 300-304; advance online publication, January 16, 2008; doi:10.1038/sj.ejhg.5201982

NF1 microduplication first clinical report: association with mild mental retardation, early onset of baldness and dental enamel hypoplasia? FREE

Bernard Grisart, Katrina Rack, Sébastien Vidrequin, Pascale Hilbert, Pierre Deltenre, Christine Verellen-Dumoulin and Anne Destrée

Eur J Hum Genet 16: 305-311; advance online publication, January 9, 2008; doi:10.1038/sj.ejhg.5201978

A 3.2 Mb deletion on 18q12 in a patient with childhood autism and high-grade myopia FREE

Mette Gilling, Marlene Briciet Lauritsen, Morten Møller, Karen Friis Henriksen, Astrid Vicente, Guiomar Oliveira, Christina Cintin, Hans Eiberg, Paal Skyt Andersen, Ole Mors, Thomas Rosenberg, Karen Brøndum-Nielsen, Rodney M J Cotterill, Claes Lundsteen, Hans-Hilger Ropers, Reinhard Ullmann, Iben Bache, Zeynep Tümer and Niels Tommerup

Eur J Hum Genet 16: 312-319; advance online publication, January 9, 2008; doi:10.1038/sj.ejhg.5201985

Deletion of 5' sequences of the CSB gene provides insight into the pathophysiology of Cockayne syndrome FREE

Vincent Laugel, Cecile Dalloz, Anne Stary, Valerie Cormier-Daire, Isabelle Desguerre, Michel Renouil, Alain Fourmaintraux, Renier Velez-Cruz, Jean-Marc Egly, Alain Sarasin and Helene Dollfus

Eur J Hum Genet 16: 320-327; advance online publication, January 9, 2008; doi:10.1038/sj.ejhg.5201991

IGF2/H19 hypomethylation in Silver–Russell syndrome and isolated hemihypoplasia FREE

Michael Zeschnigk, Beate Albrecht, Karin Buiting, Deniz Kanber, Thomas Eggermann, Gerhard Binder, Jörg Gromoll, Eva-Christina Prott, Saskia Seland and Bernhard Horsthemke

Eur J Hum Genet 16: 328-334; advance online publication, January 9, 2008; doi:10.1038/sj.ejhg.5201974

Genome-wide association of major depression: description of samples for the GAIN Major Depressive Disorder Study: NTR and NESDA biobank projects FREE

Dorret I Boomsma, Gonneke Willemsen, Patrick F Sullivan, Peter Heutink, Piet Meijer, David Sondervan, Cornelis Kluft, Guus Smit, Willem A Nolen, Frans G Zitman, Johannes H Smit, Witte J Hoogendijk, Richard van Dyck, Eco J C de Geus and Brenda W J H Penninx

Eur J Hum Genet 16: 335-342; advance online publication, January 16, 2008; doi:10.1038/sj.ejhg.5201979

A genome-wide scan suggests a susceptibility locus on 5p13 for nasopharyngeal carcinoma FREE

Li-Fu Hu, Qian-Hui Qiu, Sheng-Miao Fu, Di Sun, Kristinn Magnusson, Bing He, Annika Lindblom and Ingemar Ernberg

Eur J Hum Genet 16: 343-349; advance online publication, January 16, 2008; doi:10.1038/sj.ejhg.5201951

Polymorphisms in the cardiac sodium channel promoter displaying variant in vitro expression activity FREE

P Yang, T T Koopmann, A Pfeufer, S Jalilzadeh, E Schulze-Bahr, S Kääb, A A Wilde, D M Roden and C R Bezzina

Eur J Hum Genet 16: 350-357; advance online publication, December 5, 2007; doi:10.1038/sj.ejhg.5201952

The I105V polymorphism in glutathione S-transferase P1, parental smoking and the risk for nonsyndromic cleft lip with or without cleft palate FREE

Ingrid P C Krapels, Judith Raijmakers-Eichhorn, Wilbert H M Peters, Hennie M J Roelofs, Frank Ras and Régine P M Steegers-Theunissen

Eur J Hum Genet 16: 358-366; advance online publication, January 9, 2008; doi:10.1038/sj.ejhg.5201973

Myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy 7: corroboration and narrowing of the critical region on 10q22.3 FREE

Angelika Kuhl, Atle Melberg, Edgar Meinl, Gudrun Nürnberg, Peter Nürnberg, Hildegard Kehrer-Sawatzki and Dieter E Jenne

Eur J Hum Genet 16: 367-373; advance online publication, January 16, 2008; doi:10.1038/sj.ejhg.5201980

Y-chromosome diversity characterizes the Gulf of Oman FREE

Alicia M Cadenas, Lev A Zhivotovsky, Luca L Cavalli-Sforza, Peter A Underhill and Rene J Herrera

Eur J Hum Genet 16: 374-386; advance online publication, October 10, 2007; doi:10.1038/sj.ejhg.5201934

Top

Short Reports

Genome-wide association studies of quantitative traits with related individuals: little (power) lost but much to be gained FREE

Peter M Visscher, Toby Andrew and Dale R Nyholt

Eur J Hum Genet 16: 387-390; advance online publication, January 9, 2008; doi:10.1038/sj.ejhg.5201990

The ACTN3 R577X nonsense allele is under-represented in elite-level strength athletes FREE

Stephen M Roth, Sean Walsh, Dongmei Liu, E Jeffrey Metter, Luigi Ferrucci and Ben F Hurley

Eur J Hum Genet 16: 391-394; advance online publication, November 28, 2007; doi:10.1038/sj.ejhg.5201964

Identification of non-recurrent submicroscopic genome imbalances: the advantage of genome-wide microarrays over targeted approaches FREE

David A Koolen, Erik A Sistermans, Willy Nilessen, Samantha J L Knight, Regina Regan, Yan T Liu, R Frank Kooy, Liesbeth Rooms, Corrado Romano, Marco Fichera, Albert Schinzel, Alessandra Baumer, Britt-Marie Anderlid, Jacqueline Schoumans, Ad Geurts van Kessel, Magnus Nordenskjold and Bert B A de Vries

Eur J Hum Genet 16: 395-400; advance online publication, January 9, 2008; doi:10.1038/sj.ejhg.5201975

Top

Book Review

It's in a chart! Handbook of Physical Measurements – Second Edition FREE

Ute Moog

Eur J Hum Genet 16: 401; doi:10.1038/sj.ejhg.5201969

Top

Corrigendum

Process and outcome in communication of genetic information within families: a systematic review FREE

Clara L Gaff, Angus J Clarke and Paul Atkinson

Eur J Hum Genet 16: 402; doi:10.1038/sj.ejhg.5201971

Extra navigation

.

naturejobs

ADVERTISEMENT