Detection of amplified genomic sequences in human small-cell lung carcinoma cells by arbitrarily primed-PCR genomic fingerprinting Tomoko OkazakiJunko TakitaJ. Yokota Original investigation Pages: 253 - 258
Genetic basis of Creutzfeldt-Jakob disease in the United Kingdom: a systematic analysis of predisposing mutations and allelic variation in the PRNP gene O. WindlMaureen DempsterJ. Collinge Original investigation Pages: 259 - 264
Characterization of double minute chromosomes’ DNA content in a human high grade astrocytoma cell line by using comparative genomic hybridization and fluorescence in situ hybridization Michel GiollantSuzanne BertrandA Tchirkov Original investigation Pages: 265 - 270
Mutations in the VHL tumor suppressor gene and associated lesions in families with von Hippel-Lindau disease from central Europe Damjan GlavačHartmut P. H. NeumannHiltrud Brauch Original investigation Pages: 271 - 280
β-Glucuronidase P408S, P415L mutations: evidence that both mutations combine to produce an MPS VII allele in certain Mexican patients M. Rafiqul IslamR. VervoortW. S. Sly Original investigation Pages: 281 - 284
Polymorphisms of apolipoproteins A-IV and E in a Turkish population living in Germany E. MalleK. P. PfeifferA. Steinmetz Original investigation Pages: 285 - 290
A jumping Robertsonian translocation: a molecular and cytogenetic study S. J. GrossAvirachan T. TharapelV. M. Park Original investigation Pages: 291 - 296
A LINE element is present at the site of a 300-kb deletion starting in intron 10 of the PAX6 gene in a case of familial aniridia Matthias DrechslerB. Royer-Pokora Original investigation Pages: 297 - 303
Haplotype identity between individuals who share a CFTR mutation allele “identical by descent”: demonstration of the usefulness of the haplotype-sharing concept for gene mapping in real populations Hendrik G. de VriesM. A. van der MeulenG. J. te Meerman Original investigation Pages: 304 - 309
Heteroduplex and protein truncation analysis of the BRCA1 185delAG mutation Hilmi OzcelikYael J. AntebiI. L. Andrulis Original investigation Pages: 310 - 312
Identification of a common 6-pyruvoyl-tetrahydropterin synthase mutation at codon 87 in Chinese phenylketonuria caused by tetrahydrobiopterin synthesis deficiency Tze-Tze LiuKwang-Jen Hsiao Original investigation Pages: 313 - 316
Anesthesiologic problems in Williams syndrome: the CACNL2A locus is not involved Isabella MammiDavid E. IlesR. Tenconi Original investigation Pages: 317 - 320
Yeast artificial chromosome mapping of the cystinosis locus on chromosome 17p by fluorescence in situ hybridization Ingrid StecUlrike PetersThomas Deufel Original investigation Pages: 321 - 322
Fragile site and interstitial telomere repeat sequences at the fusion point of a de novo (Y;13) translocation Mohamed BoutouilRaouf FetniN. Lemieux Original investigation Pages: 323 - 327
Transcript analysis of CFTR frameshift mutations in lymphocytes using the reverse transcription-polymerase chain reaction technique and the protein truncation test Marie-Catherine RomeySylvie TufferyM. Claustres Original investigation Pages: 328 - 332
Identification of a variable number tandem repeat region in the human T cell receptor alpha-delta (TCRAD) locus Heidi BuchmayerHelmut RumpoldC. Mannhalter Original investigation Pages: 333 - 335
CFTR haplotypic variability for normal and mutant genes in cystic fibrosis families from southern France M. ClaustresMarie DesgeorgesXavier Estivill Original investigation Pages: 336 - 344
Prevalence of α-thalassemias in northern Thailand M. Lemmens-ZygulskaA. EigelG. Flatz Original investigation Pages: 345 - 347
A new polymorphism of arylsulfatase A within the coding region J. BergerMarion GmachHanno Bernheimer Original investigation Pages: 348 - 350
Molecular reconstruction and homology modelling of the catalytic domain of the common ancestor of the haemostatic vitamin-K-dependent serine proteinases M. KrawczakAdam WaceyDavid N. Cooper Original investigation Pages: 351 - 370
Autosomal dominant spastic paraplegia with anticipation maps to a 4-cM interval on chromosome 2p21-p24 in a large German family Joachim BürgerHermann MetzkeAndré Reis Original investigation Pages: 371 - 375
Low frequency of deletion alleles in patients with steroid 21-hydroxylase deficiency in a Mexican population M. T. Tusié-LunaSalvador Ramírez-JiménezMargarita Terán-García Original investigation Pages: 376 - 379
Recessive Schwartz-Jampel syndrome (SJS): confirmation of linkage to chromosome 1p, evidence of genetic homogeneity and reduction of the SJS locus to a 3-cM interval B. FontaineSophie NicoleFrank Lehmann-Horn Original investigation Pages: 380 - 385
Secretory phospholipase A2 does not appear to be associated with phenotypic variation in familial adenomatous polyposis Zuzana DobbieHansjakob MüllerR. J. Scott Rapid communication Pages: 386 - 390