Fine-mapping of the type 1 diabetes locus (IDDM4) on chromosome 11q and evaluation of two candidate genes (FADD and GALN) by affected sibpair and linkage-disequilibrium analyses S. EckenrodeM.P. MarronJ.-X. She Original Investigation Pages: 14 - 18
Partial COL1A2 gene duplication produces features of osteogenesis imperfecta and Ehlers-Danlos syndrome type VII M.L. RaffW.J. CraigenP.H. Byers Original Investigation Pages: 19 - 28
Incidence of mosaic cell lines in vivo and malsegregation of chromosome 21 in lymphocytes in vitro of trisomy 21 patients: detection by fluorescence in situ hybridization on binucleated lymphocytes Q. ShiI.-D. AdlerR. Martin Original Investigation Pages: 29 - 35
Evidence that a dodecamer duplication in the gene HOPA in Xq13 is not associated with mental retardation M.J. FriezF.B. EssopJ.W. Longshore Original Investigation Pages: 36 - 39
Molecular basis of childhood deafness resulting from mutations in the GJB2 (connexin 26) gene R. RabionetL. ZelanteX. Estivill Original Investigation Pages: 40 - 44
Detection of male and female fetal DNA in maternal plasma by multiplex fluorescent polymerase chain reaction amplification of short tandem repeats B. PertlA. SekizawaD.W. Bianchi Original Investigation Pages: 45 - 49
The prevalence and expression of inherited connexin 26 mutations associated with nonsyndromic hearing loss in the Israeli population T. SobeS. VreugdeK.B. Avraham Original Investigation Pages: 50 - 57
Linkage and LOH studies in 19 cylindromatosis families show no evidence of genetic heterogeneity and refine the CYLD locus on chromosome 16q12–q13 M. TakahashiE. RapleyM.R. Stratton Original Investigation Pages: 58 - 65
Isolation of a paralog of the Doyne honeycomb retinal dystrophy gene from the multiple retinopathy critical region on 11q13 N. KatsanisS. VenableJ.R. Lupski Original Investigation Pages: 66 - 72
Complete genomic organization of the human JAK3 gene and mutation analysis in severe combined immunodeficiency by single-strand conformation polymorphism R.F. SchumacherP. MellaL.D. Notarangelo Original Investigation Pages: 73 - 79
An Alu-mediated large deletion of the FUT2 gene in individuals with the ABO-Bombay phenotype Y. KodaM. SoejimaH. Kimura Original Investigation Pages: 80 - 85
Genotype and phenotype analysis of Friedreich's ataxia compound heterozygous patients M. De CastroJ. García-PlanellsF. Palau Original Investigation Pages: 86 - 92
Seven ring (X) chromosomes lacking the XIST locus, six with an unexpectedly mild phenotype C. TurnerN.R. DennisP.A. Jacobs Original Investigation Pages: 93 - 100
Genomic rearrangements of the APC tumor-suppressor gene in familial adenomatous polyposis L.-K. SuG. SteinbachP.M. Lynch Original Investigation Pages: 101 - 107
Heterogeneous mutations in the glycogen-debranching enzyme gene are responsible for glycogen storage disease type IIIa in Japan M. OkuboA. HorinishiT. Murase Original Investigation Pages: 108 - 115
Mutation and polymorphism analysis of the TRKA (NTRK1) gene encoding a high-affinity receptor for nerve growth factor in congenital insensitivity to pain with anhidrosis (CIPA) families Y. MiuraS. MardyY. Indo Original Investigation Pages: 116 - 124
Origin and implication of the hereditary pancreatitis-associated N21I mutation in the cationic trypsinogen gene J.-M. ChenC. Ferec Short Report Pages: 125 - 126
Physical mapping of the human ATX1 homologue (HAH1) to the critical region of the 5q- syndrome within 5q32, and immediately adjacent to the SPARC gene J. BoultwoodA.J. StricksonJ.S. Wainscoat Short Report Pages: 127 - 129
Application of different genetic distance methods to microsatellite data G. Destro-BisolG. SpediniV.L. Pascali Letter to the Editor Pages: 130 - 132
Genetic distances and microsatellite diversification in humans F. CalafellA. Pérez-LezaunJ. Bertranpetit Letter to the Editor Pages: 133 - 134