Complex segregation analysis of hypospadias Louise FredellLennart IseliusAgneta Nordenskjöld Original Investigation 10 August 2002 Pages: 231 - 234
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 GimelliSabrina GiglioMarco Seri Original Investigation 01 August 2002 Pages: 235 - 241
A point mutation, R59G, within the HMG-SRY box in a female 45,X/46,X, psu dic(Y)(pter→q11::q11→pter) Rosa FernandezJuan A. MarchalEduardo Pasaro Original Investigation 20 July 2002 Pages: 242 - 246
Spatial and temporal distribution of cystic fibrosis and of its mutations in Brittany, France: a retrospective study from 1960 Virginie ScotetDominique GilletRéseau Mucoviscidose Bretagne et Pays de Loire Original Investigation 01 August 2002 Pages: 247 - 254
Haplotype study of West European and North African Unverricht-Lundborg chromosomes: evidence for a few founder mutations Bruno MoulardPierre GentonAlain Malafosse Original Investigation 23 July 2002 Pages: 255 - 262
A genome-wide screen reveals evidence for a locus on chromosome 11 influencing variation in LDL cholesterol in the NHLBI Family Heart Study Hilary CoonJohn H. EckfeldtSteven C. Hunt Original Investigation 31 July 2002 Pages: 263 - 269
A genome screen for linkage disequilibrium in HLA-DRB1*15-positive Germans with multiple sclerosis based on 4666 microsatellite markers Rene GoeddeStephen SawcerJoerg T. Epplen Original Investigation 31 July 2002 Pages: 270 - 277
Molecular analysis in true hermaphroditism: demonstration of low-level hidden mosaicism for Y-derived sequences in 46,XX cases Gloria QueipoJuan ZentenoSusana Kofman-Alfaro Original Investigation 01 August 2002 Pages: 278 - 283
Differential rates of frameshift alterations in four repeat sequences of hereditary nonpolyposis colorectal cancer tumors Ariane Paoloni-GiacobinoClaudine Rey-BerthodPierre Hutter Original Investigation 06 August 2002 Pages: 284 - 289
Duplications of chromosome 11p15 of maternal origin result in a phenotype that includes growth retardation Andrew M. FisherSimon N. ThomasPeter Clayton Original Investigation 20 July 2002 Pages: 290 - 296
Favourable mutation test outcomes for individuals at risk for Huntington disease change the perspectives of first-degree relatives Benno BonkeAad TibbenTheo Stijnen Short Report 23 July 2002 Pages: 297 - 298
Thymidylate synthase: a novel genetic determinant of plasma homocysteine and folate levels Binh N. TrinhChoon-Nam OngPeter W. Laird Short Report 26 July 2002 Pages: 299 - 302
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
