The pseudoautosomal regions of the human sex chromosomes Gudrun A. Rappold Review Article Pages: 315 - 324
Deletion of arginine (608) in acid sphingomyelinase is the prevalent mutation among Niemann-Pick disease type B patients from northern Africa Marie T. VanierKlaus FerlinzKunihiko Suzuki Original Investigations Pages: 325 - 330
Two novel frameshift mutations associated with the presence of direct repeats of the LDL receptor gene in familial hypercholesterolemia Kimiko Yamakawa-KobayashiTsutomu KobayashiHideo Hamaguchi Original Investigations Pages: 331 - 335
A study of the association between schizophrenia and the dopamine D3 receptor gene S. NankoT. SasakiM. Gill Original Investigations Pages: 336 - 338
Chromosomal breakage, endomitosis, endoreduplication, and hypersensitivity toward radiomimetric and alkylating agents: A possible new autosomal recessive mutation in a girl with craniosynostosis and microcephaly Niels TommerupElse MortensenMargareta Mikkelsen Original Investigations Pages: 339 - 346
Retrospective study of the parental origin of the extra chromosome in trisomy 18 (Edwards syndrome) Markus M. NöthenThomas EggermannGesa Schwanitz Original Investigations Pages: 347 - 349
Heterogeneity of DNA and RNA in Hunter patients Tiziana AnnellaAurora DanielePaola Di Natale Original Investigations Pages: 350 - 352
Detection of confined placental mosaicism in trisomy 18 conceptions using interphase cytogenetic analysis Karen J. HarrisonIrene J. BarrettDagmar K. Kalousek Original Investigations Pages: 353 - 358
X-inactivation pattern in carriers of X-linked retinitis pigmentosa: A valuable means of prognostic evaluation? Ursula FriedrichMette WarburgArne Lund Jørgensen Original Investigations Pages: 359 - 363
Identification of an uncommon haptoglobin type using DNA and protein analysis Sandra L. MarlesPhyllis J. McAlpineCheryl R. Greenberg Original Investigations Pages: 364 - 366
DNA haplotype dependency of debrisoquine 4-hydroxylase (CYP2D6) expression among extensive metabolisers C. MuraS. PanseratR. Krishnamoorthy Original Investigations Pages: 367 - 372
Molecular analysis of a ring chromosome X in a family with fragile X syndrome Etienne MornetAny BogyoAndré Boué Original Investigations Pages: 373 - 378
The spectrum of mitochondrial DNA mutations in families with Leber hereditary optic neuroretinopathy Kirsi HuoponenTarja LamminenMarja -Liisa Savontaus Original Investigations Pages: 379 - 384
Molecular characterization of β-thalassemia in Hungary B. RingelhannJ. G. SzelenyiT. H. J. Huisman Original Investigations Pages: 385 - 387
“Premature anaphase” in a couple with recurrent miscarriages Katalin BajnóczkyS. Gardó Original Investigations Pages: 388 - 390
D8S7 is consistently deleted in inverted duplications of the short arm of chromosome 8 (inv dup 8p) Antonella MinelliGiovanna FloridiaCesare Danesino Original Investigations Pages: 391 - 396
The molecular defect in propionic acidemia: Exon skipping caused by an 8-bp deletion from an intron in the PCCB allele Toshihiro OhuraMasato OgasawaraKeiya Tada Original Investigations Pages: 397 - 402
Assignment of human β-galactosidase-A gene to 3p21.33 by fluorescence in situ hybridization Takako TakanoYasuko Yamanouchi Short Communications Pages: 403 - 404
A high-resolution cytogenetic map of human chromosome 12: Localization of 195 new cosmid markers by direct R-banding fluorescence in situ hybridization Ei-ichi TakahashiKumiko KoyamaYusuke Nakamura Short Communications Pages: 405 - 409
A de novo nonsense mutation in exon 28 of the neurofibromatosis type l (NF1) gene Ming Hong ShenMeena Upadhyaya Short Communications Pages: 410 - 412
Human complement C81 (C8 A) polymorphism: detection and segregation of new variants Christian RittnerBeate Stradmann-Bellinghausen Short Communications Pages: 413 - 416
Small frameshift deletions within the COL4A5 gene in juvenile-onset Alport syndrome Alessandra RenieriMarco SeriMario De Marchi Short Communications Pages: 417 - 420
Simultaneous detection of the two most frequent metachromatic leukodystrophy mutations Johannes BergerBrunhilde MolzerHanno Bernheimer Short Communications Pages: 421 - 423
Chorionic DNA analysis for the prenatal diagnosis of familial hypercholesterolaemia Domenico A. CovielloStefano BertoliniSebastiano Calandra Clinical Case Report Pages: 424 - 426
Homozygosity for inversion (2)(p12q14) Z. Gelman-KohanJ. RosensaftJ. Chemke Case Observed Pages: 427 - 427
An unreported RFLP for probe 218 EP6 that is useful in linkage analysis of adult polycystic kidney disease Stephen JefferyStephen Morgan OriginalPaper Pages: 428 - 428
A highly informative CA/GT repeat polymorphism in intron 38 of the human neurofibromatosis type 1 (NF1) gene Conxi LázaroAntonia GaonaXavier Estivill OriginalPaper Pages: 429 - 430
