Exclusion of the expansion of CAG/CTG repeats at thirteen loci on chromosome 12 as a candidate genetic mutation in scapuloperoneal spinal muscular atrophy with anticipation Kazuo IsozumiRobert DeLongT. Siddique Original investigation Pages: 701 - 703
A cluster of missense mutations at Arg356 of human steroid 21-hydroxylase may impair redox partner interaction Svetlana LajicAntti LevoA. Wedell Original investigation Pages: 704 - 709
The role of oxygen metabolism for the pathological phenotype of Fanconi anemia Werner RuppitschClaudia MeißlitzerM. Hirsch-Kauffmann Original investigation Pages: 710 - 719
Identification of de novo deletions at the NF1 gene: no preferential paternal origin and phenotypic analysis of patients M. Carmen ValeroIgnacio Pascual-CastroviejoConcepción Hernández-Chico Original investigation Pages: 720 - 726
DNA polymorphisms in the 5′-flanking region of the human tissue kallikrein gene Qing SongJulie ChaoL. Chao Original investigation Pages: 727 - 734
Interstitial telomeric sequences at the junction site of a jumping translocation Joris Robert VermeeschPaul PetitP. Marynen Original investigation Pages: 735 - 737
α-Satellite DNA methylation in normal individuals and in ICF patients: heterogeneous methylation of constitutive heterochromatin in adult and fetal tissues Pierre MiniouMarc JeanpierreE. Viegas-Péquignot Original investigation Pages: 738 - 745
Mutational analysis of the MPZ, PMP22 and Cx32 genes in patients of Spanish ancestry with Charcot-Marie-Tooth disease and hereditary neuropathy with liability to pressure palsies Sylvia BortE. NelisF. Palau Original investigation Pages: 746 - 754
Multicolour FISH detects frequent chromosomal mosaicism and chaotic division in normal preimplantation embryos from fertile patients J. D. A. DelhantyJoyce C. HarperRobert M. L. Winston Original investigation Pages: 755 - 760
Chromosome segregation in a man heterozygous for a pericentric inversion, inv(9)(p11q13), analyzed by using sperm karyotyping and two-color fluorescence in situ hybridization on sperm nuclei P. CollsJ. BlancoC. Templado Original investigation Pages: 761 - 765
Ataxic gait and mental retardation with absence of the paternal chromosome 8 and an idic(8)(p23.3): imprinting effect or nullisomy for distal 8p genes? Mauro PiantanidaClaudia DellavecchiaO. Zuffardi Original investigation Pages: 766 - 771
Analysis of amino-acid and nucleotide variants in the spinocerebellar ataxia type 1 (SCA1) gene in schizophrenic patients Miguel Angel PujanaLourdes MartorellX. Estivill Original investigation Pages: 772 - 775
Fine mapping of the MLK-3 gene within 11q13 and its exclusion as the MEN1 susceptibility gene N. J. LassamZheng LinCatharina Larsson Original investigation Pages: 776 - 780
A second family with XLRH displays the mutation S244L in the CLCN5 gene C. OudetDominique Martin-CoignardAndré Hanauer Original investigation Pages: 781 - 784
Biochemical and genetic studies of four patients with pyruvate dehydrogenase E1α deficiency Cécile MarsacChantal BenelliWilly Lissens Original investigation Pages: 785 - 792
The identification of a (CGG)6AGG insertion within the CGG repeat of the FMR1 gene in Asians S.-H. ChenJonathan M. SchoofC. Ronald Scott Original investigation Pages: 793 - 795
Simultaneous detection of size and sequence polymorphisms in the transcribed trinucleotide repeat D2S196E (EST00493) Luciana A. HaddadAlberto K. FuzikawaSérgio D. J. Pena Original investigation Pages: 796 - 800
HLA-DRA promoter polymorphism and diversity generation within the immune system L. M. SchwiebertAustin HughesS. J. Ono Original investigation Pages: 801 - 805
Recombination in a balanced complex translocation of a mother leading to a balanced reciprocal translocation in the child. Review of 60 cases of balanced complex translocations K. MadanA. W. M. NieuwintY. van Bever Original investigation Pages: 806 - 815
Molecular analysis of Gaucher disease: distribution of eight mutations and the complete gene deletion in 27 patients from Germany P. le CoutreA. DeminaP. E. Petrides Original investigation Pages: 816 - 821
Peculiarities of the GSTM1 0/0 genotype in French heavy smokers with various types of chronic bronchitis H. BaranovaJ. PerriotPaul Malet Original investigation Pages: 822 - 826
Putative association of a mutant ROM1 allele with retinitis pigmentosa Amalia Martínez-MirConcha VilelaLluïsa Vilageliu Rapid communication Pages: 827 - 830
Physical mapping of the HOXA1 gene and the hnRPA2B1 gene in a YAC contig from human chromosome 7p14-p15 Lut Van LaerGuy Van CampPatrick J. Willems Rapid communication Pages: 831 - 833
Differential stability of the (GAA)n tract in the Friedreich ataxia (STM7) gene C. EpplenJörg T. EpplenLudger Schöls Rapid communication Pages: 834 - 836