Mutations in PATCHED-1, the receptor for SONIC HEDGEHOG, are associated with holoprosencephaly Jeffrey E. MingMichelle E. KaupasMaximilian Muenke Original Investigation 02 March 2002 Pages: 297 - 301
Unstable transmission of the RS447 human megasatellite tandem repetitive sequence that contains the USP17 deubiquitinating enzyme gene Takeya OkadaYoichi GondoJoh-E Ikeda Original Investigation 16 March 2002 Pages: 302 - 313
Tandem duplication of the NF1 gene detected by high-resolution FISH in the 17q11.2 region Cristina GervasiniAngela BentivegnaPaola Riva Original Investigation 20 March 2002 Pages: 314 - 321
Molecular characterization of a ring X chromosome in a male with short stature Jay W. EllisonMustafa TekinKirk E. Neely Original Investigation 02 March 2002 Pages: 322 - 326
Structure of the human argininosuccinate synthetase gene and an improved system for molecular diagnostics in patients with classical and mild citrullinemia J. HäberleS. PauliH. Koch Original Investigation 01 March 2002 Pages: 327 - 333
Vitiligo: complex segregation and linkage disequilibrium analyses with respect to microsatellite loci spanning the HLA Mauricio Arcos-BurgosElba ParodiLuis Palacio Original Investigation 12 March 2002 Pages: 334 - 342
A locus for hereditary capillary malformations mapped on chromosome 5q Corstiaan C. BreugemMarielle AldersRaoul C. Hennekam Original Investigation 02 March 2002 Pages: 343 - 347
A novel locus for Usher syndrome type I, USH1G, maps to chromosome 17q24–25 Mirna MustaphaÉliane ChoueryDominique Weil Original Investigation 12 March 2002 Pages: 348 - 350
Contribution of arylsulfatase A mutations located on the same allele to enzyme activity reduction and metachromatic leukodystrophy severity Stefano RegisFabio CorsoliniMirella Filocamo Original Investigation 08 March 2002 Pages: 351 - 355
Genetic variation in α1-antichymotrypsin and its association with Alzheimer’s disease Xiaoyan WangSteven T. DeKoskyIlyas M. Kamboh Original Investigation 19 March 2002 Pages: 356 - 365
Homozygosity mapping of a Weill-Marchesani syndrome locus to chromosome 19p13.3-p13.2 Laurence FaivreAndré MégarbanéValérie Cormier-Daire Original Investigation 13 March 2002 Pages: 366 - 370
Haploinsufficiency of PAX9 is associated with autosomal dominant hypodontia Parimal DasDavid W. StocktonPragna I. Patel Original Investigation 14 March 2002 Pages: 371 - 376
The left-right determinant inversin has highly conserved ankyrin repeat and IQ domains and interacts with calmodulin David MorganJudith GoodshipTom Strachan Original Investigation 02 March 2002 Pages: 377 - 384
Antenatal and Neonatal Screening [Second Edition] Claude Dorche Book Review 20 March 2002 Pages: 386 - 386
Advances in Genetics, volume 14. Tay-Sachs Disease Ian Ellis Book Review 20 March 2002 Pages: 387 - 387