Evaluating HapMap SNP data transferability in a large-scale genotyping project involving 175 cancer-associated genes Gloria RibasAnna González-NeiraJavier Benítez Review Article 02 December 2005 Pages: 669 - 679
Short/branched-chain acyl-CoA dehydrogenase deficiency due to an IVS3+3A>G mutation that causes exon skipping Pia Pinholt MadsenMaria KibækBrage Storstein Andresen Original Investigation 30 November 2005 Pages: 680 - 690
Extreme skewing of X chromosome inactivation in mothers of homosexual men Sven BocklandtSteve HorvathDean H. Hamer Original Investigation 21 December 2005 Pages: 691 - 694
Phylogenetic relationship of the populations within and around Japan using 105 short tandem repeat polymorphic loci Shi-Lin LiToshimichi YamamotoNaruya Saitou Original Investigation 29 November 2005 Pages: 695 - 707
SNP array-based homozygosity mapping reveals MCPH1 deletion in family with autosomal recessive mental retardation and mild microcephaly Masoud GarshasbiMohammad Mahdi MotazackerHossein Najmabadi Original Investigation 26 November 2005 Pages: 708 - 715
Two-locus genome-wide linkage scan for prostate cancer susceptibility genes with an interaction effect Bao-Li ChangEthan M. LangeJianfeng Xu Original Investigations 23 November 2005 Pages: 716 - 724
Analysis of families with common variable immunodeficiency (CVID) and IgA deficiency suggests linkage of CVID to chromosome 16q Alejandro A. SchäfferJessica PfannstielBodo Grimbacher Original Investigation 22 November 2005 Pages: 725 - 729
Variants in Deleted in AZoospermia-Like (DAZL) are correlated with reproductive parameters in men and women Joyce Y. TungMitchell P. RosenRenee A. Reijo Pera Original Investigation 22 November 2005 Pages: 730 - 740
Human F7 sequence is split into three deep clades that are related to FVII plasma levels Maria Sabater-LlealJosé Manuel SoriaFrancesc Calafell Original Investigation 16 November 2005 Pages: 741 - 751
Variants of the SFTPA1 and SFTPA2 genes and susceptibility to tuberculosis in Ethiopia S. MalikC.M.T. GreenwoodE. Schurr Original Investigation 15 November 2005 Pages: 752 - 759
The euchromatic 9p+ polymorphism is a locus-specific amplification caused by repeated copies of a small DNA segment mapping within 9p12 Rosetta LecceMarina MurdoloMarcella Zollino Original Investigation 02 December 2005 Pages: 760 - 766
Activation of cryptic splice sites is a frequent splicing defect mechanism caused by mutations in exon and intron sequences of the OPA1 gene Simone SchimpfSimone SchaichBernd Wissinger Short Report 02 December 2005 Pages: 767 - 771
First steps in antenatal diagnosis, 1956 Povl Riis Historical & Personal Perspectives 14 December 2005 Pages: 772 - 773
Novel human pathological mutations Paul D. Lewis Human Gene Mutations 06 January 2006 Pages: 774 - 785
Kieran C. Murphy, Peter J. Scambler (eds): Velo-cardio-facial syndrome: a model for understanding microdeletion disorders (2005) Ian D. Young Book Review 15 November 2005 Pages: 786 - 786