Genes in the vicinity of CFTR modulate the cystic fibrosis phenotype in highly concordant or discordant F508del homozygous sib pairs Frauke MekusUlrike LaabsBurkhard Tümmler Original Investigation Pages: 1 - 11
Three different pathological lesions in the NF1 gene originating de novo in a family with neurofibromatosis type 1 Meena UpadhyayaElisa MajounieDavid N. Cooper Original Investigation Pages: 12 - 17
Surfactant protein B polymorphism and respiratory distress syndrome in premature twins Riitta MarttilaRitva HaatajaMikko Hallman Original Investigation Pages: 18 - 23
A novel locus for autosomal dominant nonsyndromic hearing loss (DFNA44) maps to chromosome 3q28–29 Silvia Modamio-HøybjørMiguel Moreno-PelayoFelipe Moreno Original Investigation Pages: 24 - 28
Mitochondrial DNA polymorphisms associated with longevity in a Finnish population Anna-Kaisa NiemiAntti HervonenKari Majamaa Original Investigation Pages: 29 - 33
Novel immunoglobulin superfamily gene cluster, mapping to a region of human chromosome 17q25, linked to psoriasis susceptibility Rebecca A. SpeckmanJil A. Wright DawAnne M. Bowcock Original Investigation Pages: 34 - 41
Molecular cloning and characterization of the GATA1 cofactor human FOG1 and assessment of its binding to GATA1 proteins carrying D218 substitutions Kathleen FresonChantal ThysChris Van Geet Original Investigation Pages: 42 - 49
Mal de Meleda (MDM) caused by mutations in the gene for SLURP-1 in patients from Germany, Turkey, Palestine, and the United Arab Emirates Katja EcklHoward P. StevensHans Hennies Original Investigation Pages: 50 - 56
Three duplicons form a novel chimeric transcription unit in the pericentromeric region of chromosome 22q11 Lindsay BridglandTim K. FootzHeather E. McDermid Original Investigation Pages: 57 - 61
Common variations in noncoding regions of the human natriuretic peptide receptor A gene have quantitative effects Joshua W. KnowlesLaurie M. EricksonNobuyo Maeda Original Investigation Pages: 62 - 70
Genomic structure of the human mitochondrial chaperonin genes: HSP60 and HSP10 are localised head to head on chromosome 2 separated by a bidirectional promoter Jens J. HansenPeter BrossNiels Gregersen Original Investigation Pages: 71 - 77
Skewed X-chromosome inactivation causes intra-familial phenotypic variation of an EBP mutation in a family with X-linked dominant chondrodysplasia punctata Shuya ShirahamaAkira MiyaharaShiro Ikegawa Original Investigation Pages: 78 - 83
Novel types of COMP mutations and genotype-phenotype association in pseudoachondroplasia and multiple epiphyseal dysplasia Akihiko MabuchiNoriyo ManabeShiro Ikegawa Original Investigation Pages: 84 - 90
Functional polymorphisms in the mineralocorticoid receptor and amirolide-sensitive sodium channel genes in a patient with sporadic pseudohypoaldosteronism Keiko AraiYoshiko NakagomiTamotsu Shibasaki Original Investigation Pages: 91 - 97
Sequence analysis of the granulysin and granzyme B genes in familial hemophagocytic lymphohistiocytosis Kim EricsonBengt FadeelJan-Inge Henter Short Report Pages: 98 - 99
Unexpectedly high prevalence of the mild form of propionic acidemia in Japan: presence of a common mutation and possible clinical implications Tohru YorifujiMasahiko KawaiTatsutoshi Nakahata Erratum Pages: 100 - 100
Ian N.M. Day (ed) Molecular genetic epidemiology: a laboratory perspective Andreas ZieglerBertram Müller-Myhsok Book Review Pages: 101 - 102