TABLE OF CONTENTS
Volume 15, Issue 1 (January 2007)
News and Commentary
Diagnostics: Genomic copy number analysis in mental retardation: finding the needles in the haystack FREE
Joris A Veltman
Eur J Hum Genet 15: 1-2; advance online publication, October 18, 2006; doi:10.1038/sj.ejhg.5201728
Practical Genetics
Otopalatodigital syndrome spectrum disorders: otopalatodigital syndrome types 1 and 2, frontometaphyseal dysplasia and Melnick-Needles syndrome FREE
Stephen P Robertson
Eur J Hum Genet 15: 3-9; advance online publication, August 23, 2006; doi:10.1038/sj.ejhg.5201654
Review
Implication of abnormal epigenetic patterns for human diseases FREE
C B Santos-Rebouças and M M G Pimentel
Eur J Hum Genet 15: 10-17; advance online publication, October 18, 2006; doi:10.1038/sj.ejhg.5201727
Articles
Vasoactive intestinal peptide gene alterations in patients with idiopathic pulmonary arterial hypertension FREE
Ines Haberl, Klemens Frei, Reinhard Ramsebner, Daniel Doberer, Ventzislav Petkov, Sulaima Albinni, Irene Lang, Trevor Lucas and Wilhelm Mosgoeller
Eur J Hum Genet 15: 18-22; advance online publication, September 27, 2006; doi:10.1038/sj.ejhg.5201711
Mutation screening of BMP4, BMP7, HOXA4 and HOXB6 genes in Chinese patients with hypospadias FREE
Taiji Chen, Qiang Li, Jiajie Xu, Keyue Ding, Yanping Wang, Weiqiu Wang, Senkai Li and Yan Shen
Eur J Hum Genet 15: 23-28; advance online publication, September 27, 2006; doi:10.1038/sj.ejhg.5201722
A two base pair deletion in the PQBP1 gene is associated with microphthalmia, microcephaly, and mental retardation FREE
Isabel Martínez-Garay, Miguel Tomás, Silvestre Oltra, Juliane Ramser, Maria D Moltó, Félix Prieto, Alfons Meindl, Kerstin Kutsche and Francisco Martínez
Eur J Hum Genet 15: 29-34; advance online publication, October 11, 2006; doi:10.1038/sj.ejhg.5201717
Towards mapping phenotypical traits in 18p- syndrome by array-based comparative genomic hybridisation and fluorescent in situ hybridisation FREE
Christian H Brenk, Eva-Christina Prott, Detlef Trost, Alexander Hoischen, Constanze Walldorf, Bernhard Radlwimmer, Dagmar Wieczorek, Peter Propping, Gabriele Gillessen-Kaesbach, Ruthild G Weber and Hartmut Engels
Eur J Hum Genet 15: 35-44; advance online publication, October 4, 2006; doi:10.1038/sj.ejhg.5201718
Novel deletion variants of 9q13–q21.12 and classical euchromatic variants of 9q12/qh involve deletion, duplication and triplication of large tracts of segmentally duplicated pericentromeric euchromatin FREE
Lionel R Willatt, John C K Barber, Amanda Clarkson, Ingrid Simonic, F Lucy Raymond, Zoe Docherty and Caroline Mackie Ogilvie
Eur J Hum Genet 15: 45-52; advance online publication, September 20, 2006; doi:10.1038/sj.ejhg.5201720
Rapid and reliable genotyping of polymorphic loci modifying correct splicing of CFTR pre-mRNA using mass spectrometry FREE
André Schaller, Thomas von Känel, Benedikt Gehr, Javier Sanz and Sabina Gallati
Eur J Hum Genet 15: 53-61; advance online publication, October 4, 2006; doi:10.1038/sj.ejhg.5201725
Cortical dysplasia of the left temporal lobe might explain severe expressive-language delay in patients with duplication of the Williams–Beuren locus FREE
Claudia Torniero, Bernardo dalla Bernardina, Francesca Novara, Annalisa Vetro, Ivana Ricca, Francesca Darra, Tiziano Pramparo, Renzo Guerrini and Orsetta Zuffardi
Eur J Hum Genet 15: 62-67; advance online publication, October 31, 2006; doi:10.1038/sj.ejhg.5201730
X-linked mental retardation: a comprehensive molecular screen of 47 candidate genes from a 7.4 Mb interval in Xp11 FREE
Lars Riff Jensen, Steffen Lenzner, Bettina Moser, Kristine Freude, Andreas Tzschach, Chen Wei, Jean-Pierre Fryns, Jamel Chelly, Gillian Turner, Claude Moraine, Ben Hamel, Hans-Hilger Ropers and Andreas Walter Kuss
Eur J Hum Genet 15: 68-75; advance online publication, September 13, 2006; doi:10.1038/sj.ejhg.5201714
Identification and molecular modelling of a novel familial mutation in the SRY gene implicated in the pure gonadal dysgenesis FREE
Giorgio Gimelli, Stefania Gimelli, Nazzareno Dimasi, Renata Bocciardi, Eliana Di Battista, Tiziano Pramparo and Orsetta Zuffardi
Eur J Hum Genet 15: 76-80; advance online publication, October 25, 2006; doi:10.1038/sj.ejhg.5201719
Repeat expansion in spinocerebellar ataxia type 17 alleles of the TATA-box binding protein gene: an evolutionary approach FREE
Jürgen Tomiuk, Lutz Bachmann, Claudia Bauer, Arndt Rolfs, Ludger Schöls, Christian Roos, Hans Zischler, Mathias M Schuler, Silke Bruntner, Olaf Riess and Peter Bauer
Eur J Hum Genet 15: 81-87; advance online publication, October 11, 2006; doi:10.1038/sj.ejhg.5201721
Association analysis of the ACTN3 R577X polymorphism and complex quantitative body composition and performance phenotypes in adolescent Greeks FREE
Colin N Moran, Nan Yang, Mark E S Bailey, Athanasios Tsiokanos, Athanasios Jamurtas, Daniel G MacArthur, Kathryn North, Yannis P Pitsiladis and Richard H Wilson
Eur J Hum Genet 15: 88-93; advance online publication, October 11, 2006; doi:10.1038/sj.ejhg.5201724
A genome-wide scan for naevus count: linkage to CDKN2A and to other chromosome regions FREE
Gu Zhu, Grant W Montgomery, Michael R James, Jeff M Trent, Nicholas K Hayward, Nicholas G Martin and David L Duffy
Eur J Hum Genet 15: 94-102; advance online publication, October 25, 2006; doi:10.1038/sj.ejhg.5201729
Molecular genetic analysis of the human dihydrofolate reductase gene: relation with plasma total homocysteine, serum and red blood cell folate levels FREE
Henkjan Gellekink, Henk J Blom, I J M van der Linden and Martin den Heijer
Eur J Hum Genet 15: 103-109; advance online publication, September 13, 2006; doi:10.1038/sj.ejhg.5201713
The single-nucleotide polymorphism 309 in the MDM2 gene contributes to the Li–Fraumeni syndrome and related phenotypes FREE
Mariëlle W G Ruijs, Marjanka K Schmidt, Heli Nevanlinna, Johanna Tommiska, Kristiina Aittomäki, Roelof Pruntel, Senno Verhoef and Laura J van't Veer
Eur J Hum Genet 15: 110-114; advance online publication, September 27, 2006; doi:10.1038/sj.ejhg.5201715
A recent genetic link between Sami and the Volga-Ural region of Russia FREE
Max Ingman and Ulf Gyllensten
Eur J Hum Genet 15: 115-120; advance online publication, September 20, 2006; doi:10.1038/sj.ejhg.5201712
Y-chromosomal evidence for a limited Greek contribution to the Pathan population of Pakistan FREE
Sadaf Firasat, Shagufta Khaliq, Aisha Mohyuddin, Myrto Papaioannou, Chris Tyler-Smith, Peter A Underhill and Qasim Ayub
Eur J Hum Genet 15: 121-126; advance online publication, October 18, 2006; doi:10.1038/sj.ejhg.5201726
