Heterogeneity in the severity of cystic fibrosis and the role of CFTR gene mutations Michael DeanGeorge Santis Review Article Pages: 364 - 368
Neuropsychological and biochemical investigations in heterozygotes for phenylketonuria during ingestion of high dose aspartame (a sweetener containing phenylalanine) Friedrich TrefzLeo de SonnevilleHorst Bickel Original Investigations Pages: 369 - 374
Amplification of (GACA)n simple repeats in an exceptional 14p+ marker chromosome M. SchmidI. NandaJ. T. Epplen Original Investigations Pages: 375 - 382
Chromosomal localization of human satellites 2 and 3 by a FISH method using oligonucleotides as probes Ignacio TagarroAntonia M. Fernández-PeraltaJuan J. González-Aguilera Original Investigations Pages: 383 - 388
SRVX, a sex reversing locus in Xp21.2→p22.11 Pamela ArnHarold ChenStephen S. Wachtel Original Investigations Pages: 389 - 393
Differential ultrastructural aberrations of collagen fibrils in Ehlers-Danlos syndrome types I–IV as a means of diagnostics and classification Ingrid HausserIngrun Anton-Lamprecht Original Investigations Pages: 394 - 407
Pure hereditary spastic paraparesis: an exclusion map covering more than 40% of the autosomal genome Judith C. T. van DeutekomRichard P. M. BruynRune R. Frants Original Investigations Pages: 408 - 414
Single exon mutation in arylsulfatase A gene has two effects: loss of enzyme activity and aberrant splicing Yoriyasu HasegawaHiroshi KawameYoshikatsu Eto Original Investigations Pages: 415 - 420
Incidence of chromosome 18 disomy in human sperm nuclei as detected by nonisotopic in situ hybridization Martina GuttenbachRenate SchakowskiMichael Schmid Original Investigations Pages: 421 - 423
Prenatal diagnosis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency by allele-specific hybridization and Southern blot Phyllis W. SpeiserPerrin C. WhiteMaria I. New Original Investigations Pages: 424 - 428
Retrospective study of the cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations in Guthrie cards from a large cohort of neonatal screening for cystic fibrosis C. VerlingueB. MercierC. Férec Original Investigations Pages: 429 - 434
Direct screening of a mitochondrial DNA deletion valuable for Amerindian evolutionary research Maria SantosRamiro Barrantes Original Investigations Pages: 435 - 436
Identification of allele-specific p22-phox mutations in a compound heterozygous patient with chronic granulomatous disease by mismatch PCR and restriction enzyme analysis Johann Peter HossleMartin de BoerDirk Roos Original Investigations Pages: 437 - 442
Unusual genotypes in the COL6A1 gene in parents of children with trisomy 21 and major congenital heart defects Gail E. DaviesCatherine M. HowardAnna M. Kessling Original Investigations Pages: 443 - 446
Analysis of the CFTR gene confirms the high genetic heterogeneity of the Spanish population: 43 mutations account for only 78% of CF chromosomes Miguel ChillónTeresa CasalsVirginia Nunes Original Investigations Pages: 447 - 451
Exclusion mapping of the gene for X-linked neural tube defects in an Icelandic family F. A. HolM. P. A. GeurdsE. C. M. Mariman Original Investigations Pages: 452 - 456
A Sau3A polymorphism in the 5′ end of the IT15 gene that nonrandomly segregates with the Huntington disease trinucleotide expansion Leon CarlockKristin GutridgeTrieu Vo Short Communications Pages: 457 - 459
Mutational analysis of the amyloid precursor protein gene in Japanese familial Alzheimer's disease kindreds Hiroto FujigasakiSatoshi NaruseTadashi Miyatake Short Communications Pages: 460 - 462
A patient with an interstitial deletion in Xp22.3 locates the gene for X-linked recessive chondrodysplasia punctata to within a one megabase interval Albrecht KlinkAlfons MeindlGudrun A. Rappold Short Communications Pages: 463 - 466
Analysis of the whole CFTR coding regions and splice junctions in azoospermic men with congenital bilateral aplasia of epididymis or vas deferens Jean-Francois CulardMarie DesgeorgesMireille Claustres Short Communications Pages: 467 - 470
Familial unbalanced translocation t(8;15)(p23.3;q11) with uniparental disomy in Angelman syndrome A. SmithZ. -M. DengR. J. Trent Clinical Case Report Pages: 471 - 473
PstI identifies biallelic DNA polymorphism of the human casein kinase 2α gene (CSNK2A1) S. SinghI. JantkeH. W. Goedde OriginalPaper Pages: 474 - 474
Two new polymorphisms in the human elastin gene (ELN) Mark C. RaybouldAndrew J. BirleyMaj Hulten OriginalPaper Pages: 475 - 476
Polymorphism of the gene encoding the alpha subunit of the stimulatory G-protein of adenylyl cyclase (GNAS1) Claire WaltmanMichael A. LevineGary S. Wand OriginalPaper Pages: 477 - 478
A polymorphic STS in intron 44 of the dystrophin gene Lau A. J. BlondenGisela M. TerwindtGert-Jan B. Van Ommen OriginalPaper Pages: 479 - 480
An RsaI polymorphism in the transcribed region of the neurofibromatosis (NF1)-gene Sven HoffmeyerGünter Assum OriginalPaper Pages: 481 - 482
Transferrin types and expression of hereditary hemochromatosis C. SikströmB. RitterL. Beckman Letters to the Editors Pages: 483 - 484
Verification of the transthyretin met 111 mutation in familial amyloid cardiomyopathy of Danish origin by DNA sequening Bjørn-Yngvar NordvågHilde Monica Frostad RiiseGunnar Husby Letters to the Editors Pages: 484 - 485
