Molecular pathology and evolutionary and physiological implications of pancreatitis-associated cationic trypsinogen mutations Jian-Min ChenTristan MontierClaude Férec Review Article 21 August 2001 Pages: 245 - 252
Extent of linkage disequilibrium between the androgen receptor gene CAG and GGC repeats in human populations: implications for prostate cancer risk Rick A. KittlesDale YoungGeorgia M. Dunston Original Investigation 04 August 2001 Pages: 253 - 261
Association between nasal allergy and a coding variant of the Fc ε RI β gene Glu237Gly in a Japanese population H. NagataH. MutohA. Konno Original Investigation 16 August 2001 Pages: 262 - 266
Compound heterozygosity and nonsense mutations in the α1-subunit of the inhibitory glycine receptor in hyperekplexia Mark I. ReesTrevor M. LewisMichael J. Owen Original Investigation 02 August 2001 Pages: 267 - 270
DNA sequence comparison of human and mouse retinitis pigmentosa GTPase regulator (RPGR) identifies tissue-specific exons and putative regulatory elements Renate KirschnerDeniz ErturkWolfgang Berger Original Investigation 16 August 2001 Pages: 271 - 278
Linkage of body mass index to chromosome 20 in Utah pedigrees Steven C. HuntVictor AbkevichSteven Stone Original Investigation 21 August 2001 Pages: 279 - 285
Submicroscopic terminal deletions and duplications in retarded patients with unclassified malformation syndromes Mariluce RiegelAlessandra BaumerAlbert Schinzel Original Investigation 25 August 2001 Pages: 286 - 294
Absence of correlation between late-replication and spreading of X inactivation in an X;autosome translocation Andrew SharpDavid O. RobinsonPatricia Jacobs Original investigation 16 August 2001 Pages: 295 - 302
Polymorphism in the alpha1-antichymotrypsin (ACT) gene promoter: effect on expression in transfected glial and liver cell lines and plasma ACT concentrations Kevin MorganFederico LicastroNoor Kalsheker Original Investigation 22 August 2001 Pages: 303 - 310
Scanning for telomeric deletions and duplications and uniparental disomy using genetic markers in 120 children with malformations M. RosenbergC. KilloranL. Biesecker Original Investigation 31 July 2001 Pages: 311 - 318
Polymorphisms within the prion-like protein gene (Prnd) and their implications in human prion diseases, Alzheimer's disease and other neurological disorders Björn SchröderBettina FranzInga Zerr Original Investigation 25 August 2001 Pages: 319 - 325
Mutational scanning of the ABCR gene with double-gradient denaturing-gradient gel electrophoresis (DG-DGGE) in Italian Stargardt disease patients Antonella FumagalliMaurizio FerrariLaura Cremonesi Original Investigation 22 August 2001 Pages: 326 - 338
Genomic structures and population histories of linguistically distinct tribal groups of India Susanta RoychoudhurySangita RoyPartha P. Majumder Original Investigation 16 August 2001 Pages: 339 - 350
Respiratory distress syndrome: evaluation of genetic susceptibility and protection by transmission disequilibrium test Ritva HaatajaRiitta MarttilaMikko Hallman Original Investigation 09 August 2001 Pages: 351 - 355
Identification of ABCC6 pseudogenes on human chromosome 16p: implications for mutation detection in pseudoxanthoma elasticum Leena PulkkinenAoi NakanoJouni Uitto Original Investigation 22 August 2001 Pages: 356 - 365
Genetics and public health in the 21st century R. Skinner Book Review 25 August 2001 Pages: 366 - 367