1. Complex segregation analysis of hypospadias

   • Louise Fredell
   • Lennart Iselius
   • Agneta Nordenskjöld

   Original Investigation 10 August 2002 Pages: 231 - 234

2. Gene dosage of the spermidine/spermine N¹-acetyltransferase (SSAT) gene with putrescine accumulation in a patient with a Xp21.1p22.12 duplication and keratosis follicularis spinulosa decalvans (KFSD)

   • Giorgio Gimelli
   • Sabrina Giglio
   • Marco Seri

   Original Investigation 01 August 2002 Pages: 235 - 241

3. A point mutation, R59G, within the HMG-SRY box in a female 45,X/46,X, psu dic(Y)(pter→q11::q11→pter)

   • Rosa Fernandez
   • Juan A. Marchal
   • Eduardo Pasaro

   Original Investigation 20 July 2002 Pages: 242 - 246

4. Spatial and temporal distribution of cystic fibrosis and of its mutations in Brittany, France: a retrospective study from 1960

   • Virginie Scotet
   • Dominique Gillet
   • Réseau Mucoviscidose Bretagne et Pays de Loire

   Original Investigation 01 August 2002 Pages: 247 - 254

5. Haplotype study of West European and North African Unverricht-Lundborg chromosomes: evidence for a few founder mutations

   • Bruno Moulard
   • Pierre Genton
   • Alain Malafosse

   Original Investigation 23 July 2002 Pages: 255 - 262

6. A genome-wide screen reveals evidence for a locus on chromosome 11 influencing variation in LDL cholesterol in the NHLBI Family Heart Study

   • Hilary Coon
   • John H. Eckfeldt
   • Steven C. Hunt

   Original Investigation 31 July 2002 Pages: 263 - 269

7. A genome screen for linkage disequilibrium in HLA-DRB1*15-positive Germans with multiple sclerosis based on 4666 microsatellite markers

   • Rene Goedde
   • Stephen Sawcer
   • Joerg T. Epplen

   Original Investigation 31 July 2002 Pages: 270 - 277

8. Molecular analysis in true hermaphroditism: demonstration of low-level hidden mosaicism for Y-derived sequences in 46,XX cases

   • Gloria Queipo
   • Juan Zenteno
   • Susana Kofman-Alfaro

   Original Investigation 01 August 2002 Pages: 278 - 283

9. Differential rates of frameshift alterations in four repeat sequences of hereditary nonpolyposis colorectal cancer tumors

   • Ariane Paoloni-Giacobino
   • Claudine Rey-Berthod
   • Pierre Hutter

   Original Investigation 06 August 2002 Pages: 284 - 289

10. Duplications of chromosome 11p15 of maternal origin result in a phenotype that includes growth retardation

    • Andrew M. Fisher
    • Simon N. Thomas
    • Peter Clayton

    Original Investigation 20 July 2002 Pages: 290 - 296

11. Favourable mutation test outcomes for individuals at risk for Huntington disease change the perspectives of first-degree relatives

    • Benno Bonke
    • Aad Tibben
    • Theo Stijnen

    Short Report 23 July 2002 Pages: 297 - 298

12. Thymidylate synthase: a novel genetic determinant of plasma homocysteine and folate levels

    • Binh N. Trinh
    • Choon-Nam Ong
    • Peter W. Laird

    Short Report 26 July 2002 Pages: 299 - 302

13. David L. Rimoin, J. Michael Connor, Reed E. Pyeritz, Bruce R. Korf (eds): Emery and Rimoin’s Principles and Practices of Medical Genetics - Fourth Edition

    • Helena Kääriäinen

    Book Review 24 July 2002 Pages: 303 - 304