1. Mutations in PATCHED-1, the receptor for SONIC HEDGEHOG, are associated with holoprosencephaly

   • Jeffrey E. Ming
   • Michelle E. Kaupas
   • Maximilian Muenke

   Original Investigation 02 March 2002 Pages: 297 - 301

2. Unstable transmission of the RS447 human megasatellite tandem repetitive sequence that contains the USP17 deubiquitinating enzyme gene

   • Takeya Okada
   • Yoichi Gondo
   • Joh-E Ikeda

   Original Investigation 16 March 2002 Pages: 302 - 313

3. Tandem duplication of the NF1 gene detected by high-resolution FISH in the 17q11.2 region

   • Cristina Gervasini
   • Angela Bentivegna
   • Paola Riva

   Original Investigation 20 March 2002 Pages: 314 - 321

4. Molecular characterization of a ring X chromosome in a male with short stature

   • Jay W. Ellison
   • Mustafa Tekin
   • Kirk E. Neely

   Original Investigation 02 March 2002 Pages: 322 - 326

5. Structure of the human argininosuccinate synthetase gene and an improved system for molecular diagnostics in patients with classical and mild citrullinemia

   • J. Häberle
   • S. Pauli
   • H. Koch

   Original Investigation 01 March 2002 Pages: 327 - 333

6. Vitiligo: complex segregation and linkage disequilibrium analyses with respect to microsatellite loci spanning the HLA

   • Mauricio Arcos-Burgos
   • Elba Parodi
   • Luis Palacio

   Original Investigation 12 March 2002 Pages: 334 - 342

7. A locus for hereditary capillary malformations mapped on chromosome 5q

   • Corstiaan C. Breugem
   • Marielle Alders
   • Raoul C. Hennekam

   Original Investigation 02 March 2002 Pages: 343 - 347

8. A novel locus for Usher syndrome type I, USH1G, maps to chromosome 17q24–25

   • Mirna Mustapha
   • Éliane Chouery
   • Dominique Weil

   Original Investigation 12 March 2002 Pages: 348 - 350

9. Contribution of arylsulfatase A mutations located on the same allele to enzyme activity reduction and metachromatic leukodystrophy severity

   • Stefano Regis
   • Fabio Corsolini
   • Mirella Filocamo

   Original Investigation 08 March 2002 Pages: 351 - 355

10. Genetic variation in α₁-antichymotrypsin and its association with Alzheimer’s disease

    • Xiaoyan Wang
    • Steven T. DeKosky
    • Ilyas M. Kamboh

    Original Investigation 19 March 2002 Pages: 356 - 365

11. Homozygosity mapping of a Weill-Marchesani syndrome locus to chromosome 19p13.3-p13.2

    • Laurence Faivre
    • André Mégarbané
    • Valérie Cormier-Daire

    Original Investigation 13 March 2002 Pages: 366 - 370

12. Haploinsufficiency of PAX9 is associated with autosomal dominant hypodontia

    • Parimal Das
    • David W. Stockton
    • Pragna I. Patel

    Original Investigation 14 March 2002 Pages: 371 - 376

13. The left-right determinant inversin has highly conserved ankyrin repeat and IQ domains and interacts with calmodulin

    • David Morgan
    • Judith Goodship
    • Tom Strachan

    Original Investigation 02 March 2002 Pages: 377 - 384

14. Genetics and the electroencephalogram

    • R. Mark Gardiner

    Book Review 12 March 2002 Pages: 385 - 385

15. Antenatal and Neonatal Screening [Second Edition]

    • Claude Dorche

    Book Review 20 March 2002 Pages: 386 - 386

16. Advances in Genetics, volume 14. Tay-Sachs Disease

    • Ian Ellis

    Book Review 20 March 2002 Pages: 387 - 387