TABLE OF CONTENTS
Volume 12, Issue 11 (November 2004)
News and Commentary
Deep genomics in shallow times: the finished sequence of human chromosomes 13 and 19 FREE
Colin A M Semple
Eur J Hum Genet 12: 875-876; doi:10.1038/sj.ejhg.5201254
Letter
The geography of HFE mutations: molecular diagnosis of haemochromatosis and the globalization of genetic testing FREE
M Salto-Tellez and E Siew-Chuan Koay
Eur J Hum Genet 12: 877-878; advance online publication, September 1, 2004; doi:10.1038/sj.ejhg.5201265
Articles
Genotyping in 46 patients with tentative diagnosis of Treacher Collins syndrome revealed unexpected phenotypic variation FREE
Özge Altug Teber, Gabriele Gillessen-Kaesbach, Sven Fischer, Stefan Böhringer, Beate Albrecht, Angelika Albert, Mine Arslan-Kirchner, Eric Haan, Monika Hagedorn-Greiwe, Christof Hammans, Wolfram Henn, Georg Klaus Hinkel, Rainer König, Erdmute Kunstmann, Jürgen Kunze, Luitgard M Neumann, Eva-Christina Prott, Anita Rauch, Hans-Dieter Rott, Heide Seidel, Stephanie Spranger, Martin Sprengel, Barbara Zoll, Dietmar R Lohmann and Dagmar Wieczorek
Eur J Hum Genet 12: 879-890; advance online publication, September 1, 2004; doi:10.1038/sj.ejhg.5201260
Congenital afibrinogenaemia caused by uniparental isodisomy of chromosome 4 containing a novel 15-kb deletion involving fibrinogen A
-chain gene FREE
Silvia Spena, Stefano Duga, Rosanna Asselta, Flora Peyvandi, Chularatana Mahasandana, Massimo Malcovati and Maria Luisa Tenchini
Eur J Hum Genet 12: 891-898; advance online publication, September 22, 2004; doi:10.1038/sj.ejhg.5201207
Penetrances of breast and ovarian cancer in a large series of families tested for BRCA1/2 mutations FREE
Fabio Marroni, Paolo Aretini, Emma D'Andrea, Maria Adelaide Caligo, Laura Cortesi, Alessandra Viel, Enrico Ricevuto, Marco Montagna, Giovanna Cipollini, Massimo Federico, Manuela Santarosa, Paolo Marchetti, Joan E Bailey-Wilson, Generoso Bevilacqua, Giovanni Parmigiani and Silvano Presciuttini
Eur J Hum Genet 12: 899-906; advance online publication, September 1, 2004; doi:10.1038/sj.ejhg.5201256
Strategies for the rapid prenatal diagnosis of chromosome aneuploidy FREE
Kathy Mann, Celia Donaghue, Susan P Fox, Zoe Docherty and Caroline Mackie Ogilvie
Eur J Hum Genet 12: 907-915; advance online publication, August 4, 2004; doi:10.1038/sj.ejhg.5201224
Molecular diversity at the CYP2D6 locus in the Mediterranean region FREE
Silvia Fuselli, Isabelle Dupanloup, Elena Frigato, Fulvio Cruciani, Rosaria Scozzari, Pedro Moral, Johanna Sistonen, Antti Sajantila and Guido Barbujani
Eur J Hum Genet 12: 916-924; advance online publication, September 1, 2004; doi:10.1038/sj.ejhg.5201243
Accurate determination of microsatellite allele frequencies in pooled DNA samples FREE
Hugo G Schnack, Steven C Bakker, Ruben van't Slot, Bart M Groot, Richard J Sinke, Rene S Kahn and Peter L Pearson
Eur J Hum Genet 12: 925-934; advance online publication, August 11, 2004; doi:10.1038/sj.ejhg.5201234
Modulating effect of the A-278C promoter polymorphism in the cholesterol 7alpha-hydroxylase gene on serum lipid levels in normolipidaemic and hypertriglyceridaemic individuals FREE
M K Hofman, M Groenendijk, P J J H Verkuijlen, I J A M Jonkers, M F Mohrschladt, A H M Smelt and H M G Princen
Eur J Hum Genet 12: 935-941; advance online publication, July 7, 2004; doi:10.1038/sj.ejhg.5201236
Effect of genetic variation in the human S-adenosylhomocysteine hydrolase gene on total homocysteine concentrations and risk of recurrent venous thrombosis FREE
Henkjan Gellekink, Martin den Heijer, Leo A J Kluijtmans and Henk J Blom
Eur J Hum Genet 12: 942-948; advance online publication, July 7, 2004; doi:10.1038/sj.ejhg.5201237
Genome-wide association study identifies ITGB3 as a QTL for whole blood serotonin FREE
Lauren A Weiss, Jeremy Veenstra-VanderWeele, Dina L Newman, Soo-Jeong Kim, Harvey Dytch, Mary Sara McPeek, Suzanne Cheng, Carole Ober, Edwin H Cook Jr and Mark Abney
Eur J Hum Genet 12: 949-954; advance online publication, August 4, 2004; doi:10.1038/sj.ejhg.5201239
Familial correlations and inter-relationships of four asthma-associated quantitative phenotypes in 320 French EGEA families ascertained through asthmatic probands FREE
Emmanuelle Bouzigon, Valérie Chaudru, Anne-Sophie Carpentier, Marie-Hélène Dizier, Marie-Pierre Oryszczyn, Jean Maccario, Francine Kauffmann and Florence Demenais
Eur J Hum Genet 12: 955-963; advance online publication, July 7, 2004; doi:10.1038/sj.ejhg.5201241
Combining the transmission disequilibrium test and case–control methodology using generalized logistic regression FREE
Nico J D Nagelkerke, Barbara Hoebee, Peter Teunis and Tjeerd G Kimman
Eur J Hum Genet 12: 964-970; advance online publication, September 1, 2004; doi:10.1038/sj.ejhg.5201255
Short Reports
Cox proportional hazards survival regression in haplotype-based association analysis using the Stochastic-EM algorithm FREE
D-A Tregouet and L Tiret
Eur J Hum Genet 12: 971-974; advance online publication, July 7, 2004; doi:10.1038/sj.ejhg.5201238
Homozygous loss of a cysteine residue in the glucocerebrosidase gene results in Gaucher's disease with a hydropic phenotype FREE
Heather J Church, Alan Cooper, Fiona Stewart, Claire M Thornton and J Edmund Wraith
Eur J Hum Genet 12: 975-978; advance online publication, August 4, 2004; doi:10.1038/sj.ejhg.5201251
Extension of the mutation spectrum in Friedreich's ataxia: detection of an exon deletion and novel missense mutations FREE
C H Zühlke, A Dalski, M Habeck, K Straube, K Hedrich, M Hoeltzenbein, A Konstanzer, Y Hellenbroich and E Schwinger
Eur J Hum Genet 12: 979-982; advance online publication, September 1, 2004; doi:10.1038/sj.ejhg.5201257
