Spectral karyotyping refines cytogenetic diagnostics of constitutional chromosomal abnormalities E. SchröckT. VeldmanThomas Ried Original investigation Pages: 255 - 262
Refined genetic localization of the Best disease gene in 11q13 and physical mapping of linked markers on radiation hybrids Caroline GraffAnna ErikssonClaes Wadelius Original investigation Pages: 263 - 270
Phenotype-genotype correlation in haemochromatosis subjects C. MuraJean-Baptiste NousbaumClaude Ferec Original investigation Pages: 271 - 276
Hereditary neuralgic amyotrophy: evidence for genetic homogeneity and mapping to chromosome 17q25 Joan E. PellegrinoRoberta A. V. GeorgeP. F. Chance Original investigation Pages: 277 - 283
The human histone gene cluster at the D6S105 locus Werner AlbigD. Doenecke Original investigation Pages: 284 - 294
Clonal chromosome aberrations are present in vivo in synovia and osteophytes from patients with osteoarthritis K. BrobergJanusz LimonFredrik Mertens Original investigation Pages: 295 - 298
Spontaneous and induced aneuploidy in peripheral blood lymphocytes of patients with Alzheimer’s disease L. MiglioreAnna TestaUbaldo Bonuccelli Original investigation Pages: 299 - 305
TRP64ARG β3-adrenergic receptor and obesity in Mexican Americans K. SilverBraxton D. MitchellA. R. Shuldiner Original investigation Pages: 306 - 311
Detection of heterozygous carriers of the ataxia-telangiectasia (ATM) gene by G2 phase chromosomal radiosensitivity of peripheral blood lymphocytes A. TchirkovJacques-Olivier BayPierre Verrelle Original investigation Pages: 312 - 316
Mapping the multiple self-healing squamous epithelioma (MSSE) gene and investigation of xeroderma pigmentosum group A (XPA) and PATCHED (PTCH) as candidate genes F. M. RichardsDavid R. GoudieM. A. Ferguson-Smith Original investigation Pages: 317 - 322
Factor VIII gene mutations found by a comparative study of SSCP, DGGE and CMC and their analysis on a molecular model of factor VIII protein R. SchwaabJ. OldenburgK. Michaelides Original investigation Pages: 323 - 332
Dihydropyrimidine dehydrogenase (DPD) deficiency: identification and expression of missense mutations C29R, R886H and R235W P. VrekenA. B. P. Van KuilenburgA. H. van Gennip Original investigation Pages: 333 - 338
Alu-splice PCR: a simple method to isolate exon-containing fragments from cloned human genomic DNA Juan-José FuentesCarles PucharcósX. Estivill Original investigation Pages: 346 - 350
A rapid screening method for hepatocyte nuclear factor 1 alpha frameshift mutations; prevalence in maturity-onset diabetes of the young and late-onset non-insulin dependent diabetes Timothy M. FraylingMichael P. BulmanSian Ellard Original investigation Pages: 351 - 354
Incidence of the mucopolysaccharidoses in Northern Ireland J. Nelson Original investigation Pages: 355 - 358
Inherited susceptibility to several cancers but absence of linkage between dysplastic nevus syndrome and CDKN2A in a melanoma family with a mutation in the CDKN2A (P16INK4A) gene S. PuigAnna RuizXavier Estivill Original investigation Pages: 359 - 364
High heterogeneity for cystic fibrosis in Spanish families: 75 mutations account for 90% of chromosomes Teresa CasalsMaria D. RamosX. Estivill Original investigation Pages: 365 - 370
Alternative splicing in PAX2 generates a new reading frame and an extended conserved coding region at the carboxy terminus Kamiab TavassoliWolfgang RügerJürgen Horst Original investigation Pages: 371 - 375
Localisation of a gene for Papillon-Lefèvre syndrome to chromosome 11q14–q21 by homozygosity mapping Martin Walter LaassHans Christian HenniesAndré Reis Original investigation Pages: 376 - 382