Molecular genetic advances in tuberous sclerosis Jeremy P. CheadleMary Pat ReeveDavid J. Kwiatkowski Review Article 11 August 2000 Pages: 97 - 114
Autosomal dominant polycystic kidney disease: molecular genetics and molecular pathogenesis Michael KoptidesC. Constantinou Deltas Review Article 01 August 2000 Pages: 115 - 126
Genomic structure of a copy of the human TPTE gene which encompasses 87 kb on the short arm of chromosome 21 Michel GuipponiMarie-Laure YaspoStylianos E. Antonarakis Original Investigation 01 August 2000 Pages: 127 - 131
Genetic background of apparently idiopathic sporadic cerebellar ataxia Ludger SchölsSandra SzymanskiOlaf Riess Original Investigation 03 August 2000 Pages: 132 - 137
Association of a variant in exon 31 of the sulfonylurea receptor 1 (SUR1) gene with type 2 diabetes mellitus in French Caucasians André F. ReisWei-Zhen YeGilberto Velho Original Investigation 11 August 2000 Pages: 138 - 144
Mutations in short stature homeobox containing gene (SHOX) in dyschondrosteosis but not in hypochondroplasia Giedre GrigelionieneOle EklöfLars Hagenäs Original Investigation 01 August 2000 Pages: 145 - 149
Porphobilinogen deaminase gene in African and Afro-Caribbean ethnic groups: mutations causing acute intermittent porphyria and specific intragenic polymorphisms A.M. Robreau-FraoliniH. PuyJ.C. Deybach Original Investigation 21 July 2000 Pages: 150 - 159
Immature end-plates and utrophin deficiency in congenital myasthenic syndrome caused by ε-AChR subunit truncating mutations Jörn P. SiebSimone KranerOrtrud K. Steinlein Original Investigation 11 August 2000 Pages: 160 - 164
Characterization of TH1 and CTSZ, two non-imprinted genes downstream of GNAS1 in chromosome 20q13 David T. BonthronBruce E. HaywardLisa Strain Original Investigation 10 August 2000 Pages: 165 - 175
Identification of missense, nonsense, and deletion mutations in the GRHPR gene in patients with primary hyperoxaluria type II (PH2) Kylie E. WebsterPatrick M. FerreeScott D. Cramer Original Investigation 10 August 2000 Pages: 176 - 185
Prevalence of BRCA1 and BRCA2 mutations among clinic-based African American families with breast cancer Qing GaoGail TomlinsonOlufunmilayo I. Olopade Original Investigation 14 April 2000 Pages: 186 - 191
Protein truncating BRCA1 and BRCA2 mutations in African women with pre-menopausal breast cancer Olufunmilayo I. OpoladeQing GaoAdeyinka G. Falusi Short Report 16 August 2000 Pages: 192 - 194
Detection of the fragile X syndrome protein for the evaluation of FMR1 intermediate alleles Sergi Castellví-BelMiguel Fernández-BurrielMontserrat Milà Short Report 01 August 2000 Pages: 195 - 196
Genetic association studies of bronchial asthma – a need for Bonferroni correction? Michael KrawczakStefan BoehringerJörg T. Epplen Letter to the Editors 16 August 2000 Pages: 197 - 197