A human gene similar to Drosophila melanogaster peanut maps to the DiGeorge syndrome region of 22q11 Judith M. McKieHelen F. SutherlandP. J. Scambler Original investigation Pages: 6 - 12
Retinitis pigmentosa locus on 17q (RP17): fine localization to 17q22 and exclusion of the PDEG and TIMP2 genes Soraya BardienRajkumar RamesarJ. Greenberg Original investigation Pages: 13 - 17
Polymorphisms at 13 expressed human sequences containing CAG/CTG repeats and analysis in autosomal dominant cerebellar ataxia (ADCA) patients Miguel Angel PujanaMonica GratacósX. Estivill Original investigation Pages: 18 - 21
A missense mutation in Col1A1 in a Jewish Israeli patient with mild osteogenesis imperfecta, detected by DGGE Galia Gat-YablonskiLiat RiesE. Friedman Original investigation Pages: 22 - 25
The human cornea has a high incidence of acquired chromosome abnormalities M. J. PettenatiAndrew J. SweattRichard M. Davis Original investigation Pages: 26 - 29
Detection of mosaic and non-mosaic chromosome abnormalities in 6- to 8-day-old human blastocysts Hazel J. CloustonJeanette FenwickJ. Wolstenholme Original investigation Pages: 30 - 36
Homology modelling of the catalytic domain of early mammalian protein C: evolution of structural features A. I. WaceyM. KrawczakD. N. Cooper Original investigation Pages: 37 - 42
Codon-usage variants in the polymorphic (GGN) n trinucleotide repeat of the human androgen receptor gene Rose LumbrosoLenore K. BeitelL. Pinsky Original investigation Pages: 43 - 46
Jackson-Weiss syndrome: identification of two novel FGFR2 missense mutations shared with Crouzon and Pfeiffer craniosynostotic disorders M. TartagliaC. Di RoccoPiero A. Battaglia Original investigation Pages: 47 - 50
Tumorigenesis in colorectal tumors from patients with hereditary non-polyposis colorectal cancer P. TannergårdT. LiuA. Lindblom Original investigation Pages: 51 - 55
Exhaustive screening of the 21-hydroxylase gene in a population of hyperandrogenic women Hélène BlanchéPatrick VexiauChristine Bellanné-Chantelott Original investigation Pages: 56 - 60
Alphoid variant-specific FISH probes can distinguish autosomal meiosis I from meiosis II non-disjunction in human sperm C. L. O’KeefeD. K. GriffinT. J. Hassold Original investigation Pages: 61 - 66
The Arg192 isoform of paraoxonase with low sarin-hydrolyzing activity is dominant in the Japanese Y. YamasakiKen’ya SakamotoMasatsugu Hori Original investigation Pages: 67 - 68
A human homologue of the Drosophila melanogaster sluggish-A (proline oxidase) gene maps to 22q11.2, and is a candidate gene for type-I hyperprolinaemia H. D. CampbellGraham C. WebbIan G. Young Original investigation Pages: 69 - 74
Characterisation of two different nonsense mutations, C6792A and C6792G, causing skipping of exon 37 in the NF1 gene L. MessiaenTom CallensGeert Mortier Original investigation Pages: 75 - 80
Analysis of the transcriptional activity of amplified genes in tumour cells by fluorescence in situ hybridization C. JollySylvie MichellandClaire Vourc’h Original investigation Pages: 81 - 87
Clinical and genetic heterogeneity in Meckel syndrome Paulina PaavolaRiitta SalonenL. Peltonen Original investigation Pages: 88 - 92
Three novel splice mutations in the PCCA gene causing identical exon skipping in propionic acidemia patients E. RichardLourdes R. DesviatM. Ugarte Original investigation Pages: 93 - 96
A novel common missense mutation G301C in the N-acetylgalactosamine-6-sulfate sulfatase gene in mucopolysaccharidosis IVA Z. KatoSeiji FukudaNaomi Kondo Original investigation Pages: 97 - 101
Eighteen new polymorphic markers in the multiple endocrine neoplasia type 1 (MEN1) region Pachiappan ManickamSiradanahalli C. GuruS. C. Chandrasekharappa Original investigation Pages: 102 - 108
Minimum sample sizes for identifying chromosomal fragile sites from individuals: Monte Carlo estimation I. F. GreenbaumJ. K. FultonP. Fred Dahm Original investigation Pages: 109 - 112
Two different 5′ splice site mutations in the growth hormone gene causing autosomal dominant growth hormone deficiency Claudio MissarelliLuisa HerreraP. Carvallo Rapid communication Pages: 113 - 117
Insulin receptor substrate-1 gene variants in lipoatrophic diabetes mellitus and non-insulin-dependent diabetes mellitus: a study of South African black and white subjects V. R. PanzFrederick J. RaalBarry I. Joffe Letter to the editors Pages: 118 - 119