Genotype and phenotype in patients with dihydropyrimidine dehydrogenase deficiency A. B. P. Van KuilenburgP. VrekenA. H. Van Gennip Review article Pages: 1 - 9
Werner syndrome lymphoblastoid cells are sensitive to camptothecin-induced apoptosis in S-phase M. PootKatherine A. GollahonPeter S. Rabinovitch Rapid commmunication Pages: 10 - 14
Disentangling the perturbational effects of amino acid substitutions in the DNA-binding domain of p53 A. I. WaceyD. N. CooperM. Krawczak Original investigation Pages: 15 - 22
A trisomic germ cell line and precocious chromatid segregation leads to recurrent trisomy 21 conception J. CozziClare M. ConnJ. D. A. Delhanty Original investigation Pages: 23 - 28
A rapid automated SSCP multiplex capillary electrophoresis protocol that detects the two common mutations implicated in hereditary hemochromatosis (HH) H. M. WenzSusanne BaumhueterMark Worwood Original investigation Pages: 29 - 35
A G to A transition at the last nucleotide of exon 6 of the γc gene (868G→A) may result in either a splice or missense mutation in patients with X-linked severe combined immunodeficiency Nobuko KanaiFumio YanaiAkihisa Mitsudome Original investigation Pages: 36 - 42
Xp deletions associated with autism in three females N. S. ThomasAndrew J. SharpNicholas R. Dennis Original investigation Pages: 43 - 48
A new assay for the analysis of X-chromosome inactivation based on methylation-specific PCR T. KubotaShigeaki NonoyamaYoshimitsu Fukushima Original investigation Pages: 49 - 55
Fibroblast growth factor homologous factor 2 (FHF2): gene structure, expression and mapping to the Börjeson-Forssman-Lehmann syndrome region in Xq26 delineated by a duplication breakpoint in a BFLS-like patient J. GeczElizabeth BakerJohn C. Mulley Original investigation Pages: 56 - 63
Delineation of two distinct 6p deletion syndromes Angela F. DaviesGhazala MirzaJ. Ragoussis Original investigation Pages: 64 - 72
Refined mapping of the gene for autosomal dominant retinitis pigmentosa (RP17) on chromosome 17q22 A. I. den HollanderS. D. van der Velde-VisserFrans P. M. Cremers Original investigation Pages: 73 - 76
Refined genetic and physical positioning of the gene for Doyne honeycomb retinal dystrophy (DHRD) Sana KermaniKevin Gregory-EvansC. Y. Gregory-Evans Original investigation Pages: 77 - 82
P57 (KIP2) polymorphisms and breast cancer risk Y. LiR. C. MillikanE. T. Li Original investigation Pages: 83 - 88
Genotyping single nucleotide polymorphisms by primer extension and high performance liquid chromatography Bastiaan HoogendoornMichael J. OwenM. C. O’Donovan Original investigation Pages: 89 - 93
A large Alu-mediated deletion, identified by PCR, as the molecular basis for glycogen storage disease Type II (GSDII) M. L. HuieA. L. ShanskeR. Hirschhorn Original investigation Pages: 94 - 98
Mapping and genomic characterization of the gene encoding diacylglycerol kinase γ (DAGK3): assessment of its role in dominant optic atrophy (OPA1) Heidi StöhrJörg KleinB. H. F. Weber Original investigation Pages: 99 - 105
Characterization of a novel α-mannosidosis-causing mutation and its use in leukocyte genotyping after bone marrow transplantation H. M. Frostad RiiseGaute Martin HansenØivind Nilssen Short report Pages: 106 - 107
Exclusion of the Sonic Hedgehog gene as responsible for Currarino syndrome and anorectal malformations with sacral hypodevelopment M. SeriGiuseppe MartuccielloVincenzo Jasonni Short report Pages: 108 - 110
Glycogen storage disease III subtypes and muscle weakness during childhood M. OkuboA. HorinishiT. Murase Reply Pages: 112 - 112