1. The pseudoautosomal regions of the human sex chromosomes

   • Gudrun A. Rappold

   Review Article Pages: 315 - 324

2. Deletion of arginine (608) in acid sphingomyelinase is the prevalent mutation among Niemann-Pick disease type B patients from northern Africa

   • Marie T. Vanier
   • Klaus Ferlinz
   • Kunihiko Suzuki

   Original Investigations Pages: 325 - 330

3. Two novel frameshift mutations associated with the presence of direct repeats of the LDL receptor gene in familial hypercholesterolemia

   • Kimiko Yamakawa-Kobayashi
   • Tsutomu Kobayashi
   • Hideo Hamaguchi

   Original Investigations Pages: 331 - 335

4. A study of the association between schizophrenia and the dopamine D₃ receptor gene

   • S. Nanko
   • T. Sasaki
   • M. Gill

   Original Investigations Pages: 336 - 338

5. 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 Tommerup
   • Else Mortensen
   • Margareta Mikkelsen

   Original Investigations Pages: 339 - 346

6. Retrospective study of the parental origin of the extra chromosome in trisomy 18 (Edwards syndrome)

   • Markus M. Nöthen
   • Thomas Eggermann
   • Gesa Schwanitz

   Original Investigations Pages: 347 - 349

7. Heterogeneity of DNA and RNA in Hunter patients

   • Tiziana Annella
   • Aurora Daniele
   • Paola Di Natale

   Original Investigations Pages: 350 - 352

8. Detection of confined placental mosaicism in trisomy 18 conceptions using interphase cytogenetic analysis

   • Karen J. Harrison
   • Irene J. Barrett
   • Dagmar K. Kalousek

   Original Investigations Pages: 353 - 358

9. X-inactivation pattern in carriers of X-linked retinitis pigmentosa: A valuable means of prognostic evaluation?

   • Ursula Friedrich
   • Mette Warburg
   • Arne Lund Jørgensen

   Original Investigations Pages: 359 - 363

10. Identification of an uncommon haptoglobin type using DNA and protein analysis

    • Sandra L. Marles
    • Phyllis J. McAlpine
    • Cheryl R. Greenberg

    Original Investigations Pages: 364 - 366

11. DNA haplotype dependency of debrisoquine 4-hydroxylase (CYP2D6) expression among extensive metabolisers

    • C. Mura
    • S. Panserat
    • R. Krishnamoorthy

    Original Investigations Pages: 367 - 372

12. Molecular analysis of a ring chromosome X in a family with fragile X syndrome

    • Etienne Mornet
    • Any Bogyo
    • André Boué

    Original Investigations Pages: 373 - 378

13. The spectrum of mitochondrial DNA mutations in families with Leber hereditary optic neuroretinopathy

    • Kirsi Huoponen
    • Tarja Lamminen
    • Marja -Liisa Savontaus

    Original Investigations Pages: 379 - 384

14. Molecular characterization of β-thalassemia in Hungary

    • B. Ringelhann
    • J. G. Szelenyi
    • T. H. J. Huisman

    Original Investigations Pages: 385 - 387

15. “Premature anaphase” in a couple with recurrent miscarriages

    • Katalin Bajnóczky
    • S. Gardó

    Original Investigations Pages: 388 - 390

16. D8S7 is consistently deleted in inverted duplications of the short arm of chromosome 8 (inv dup 8p)

    • Antonella Minelli
    • Giovanna Floridia
    • Cesare Danesino

    Original Investigations Pages: 391 - 396

17. The molecular defect in propionic acidemia: Exon skipping caused by an 8-bp deletion from an intron in the PCCB allele

    • Toshihiro Ohura
    • Masato Ogasawara
    • Keiya Tada

    Original Investigations Pages: 397 - 402

18. Assignment of human β-galactosidase-A gene to 3p21.33 by fluorescence in situ hybridization

    • Takako Takano
    • Yasuko Yamanouchi

    Short Communications Pages: 403 - 404

19. 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 Takahashi
    • Kumiko Koyama
    • Yusuke Nakamura

    Short Communications Pages: 405 - 409

20. A de novo nonsense mutation in exon 28 of the neurofibromatosis type l (NF1) gene

    • Ming Hong Shen
    • Meena Upadhyaya

    Short Communications Pages: 410 - 412

21. Human complement C81 (C8 A) polymorphism: detection and segregation of new variants

    • Christian Rittner
    • Beate Stradmann-Bellinghausen

    Short Communications Pages: 413 - 416

22. Small frameshift deletions within the COL4A5 gene in juvenile-onset Alport syndrome

    • Alessandra Renieri
    • Marco Seri
    • Mario De Marchi

    Short Communications Pages: 417 - 420

23. Simultaneous detection of the two most frequent metachromatic leukodystrophy mutations

    • Johannes Berger
    • Brunhilde Molzer
    • Hanno Bernheimer

    Short Communications Pages: 421 - 423

24. Chorionic DNA analysis for the prenatal diagnosis of familial hypercholesterolaemia

    • Domenico A. Coviello
    • Stefano Bertolini
    • Sebastiano Calandra

    Clinical Case Report Pages: 424 - 426

25. Homozygosity for inversion (2)(p12q14)

    • Z. Gelman-Kohan
    • J. Rosensaft
    • J. Chemke

    Case Observed Pages: 427 - 427

26. An unreported RFLP for probe 218 EP6 that is useful in linkage analysis of adult polycystic kidney disease

    • Stephen Jeffery
    • Stephen Morgan

    OriginalPaper Pages: 428 - 428

27. A highly informative CA/GT repeat polymorphism in intron 38 of the human neurofibromatosis type 1 (NF1) gene

    • Conxi Lázaro
    • Antonia Gaona
    • Xavier Estivill

    OriginalPaper Pages: 429 - 430