Isolated supravalvular aortic stenosis: functional haploinsufficiency of the elastin gene as a result of nonsense-mediated decay Zsolt UrbánVirginia V. MichelsCharles D. Boyd Original Investigation 18 May 2000 Pages: 577 - 588
The ALDH2 genotype, alcohol intake, and liver-function biomarkers among Japanese male workers Tatsuya TakeshitaXing YangKanehisa Morimoto Original investigation 01 June 2000 Pages: 589 - 593
Exclusion of NFIL3 as the gene causing hereditary sensory neuropathy type I by mutation analysis Dennis J. HulmeIan P. BlairGarth A. Nicholson Original Investigation 13 May 2000 Pages: 594 - 596
Analysis of CAG repeats in SCA1, SCA2, SCA3, SCA6, SCA7 and DRPLA loci in spinocerebellar ataxia patients and distribution of CAG repeats at the SCA1, SCA2 and SCA6 loci in nine ethnic populations of eastern India Priyadarshi BasuBiswanath ChattopadhyayNitai P. Bhattacharyya Original Investigation 01 June 2000 Pages: 597 - 604
Two pregnancies after preimplantation genetic diagnosis for osteogenesis imperfecta type I and type IV Anick De VosKaren SermonAndré Van Steirteghem Original Investigation 01 June 2000 Pages: 605 - 613
Genomic organisation and chromosomal localisation of two members of the KCND ion channel family, KCND2 and KCND3 Alex V. PostmaConnie R. BezzinaMarcel M. A. M. Mannens Original Investigation 19 May 2000 Pages: 614 - 619
Mechanisms of maternal aneuploidy: FISH analysis of oocytes and polar bodies in patients undergoing assisted conception Radma MahmoodCatherine H. BrierleyJoy D. A. Delhanty Original Investigation 26 May 2000 Pages: 620 - 626
Gene structures of the human non-neuronal monoamine transporters EMT and OCT2 Dirk GründemannEdgar Schömig Original Investigation 19 May 2000 Pages: 627 - 635
Confirmation of linkage of Duane's syndrome and refinement of the disease locus to an 8.8-cM interval on chromosome 2q31 Julie Claire EvansTimothy Mark FraylingNick J. Gutowski Original Investigation 19 May 2000 Pages: 636 - 638
Structure and polymorphism of the human gene for the interferon-induced p78 protein (MX1): evidence of association with alopecia areata in the Down syndrome region Rachid Tazi-AhniniFrancesco S. di GiovineMichael J. Cork Original Investigation 31 May 2000 Pages: 639 - 645
Molecular genetic analysis of severe protein C deficiency David S. MillarBent JohansenDavid N. Cooper Original Investigation 31 May 2000 Pages: 646 - 653
Mutations in the 4-hydroxyphenylpyruvate dioxygenase gene (HPD) in patients with tyrosinemia type III Ulla RüetschiRoberto CeroneElisabeth Holme Original Investigation 25 May 2000 Pages: 654 - 662
Application and evaluation of denaturing HPLC for molecular genetic analysis in tuberous sclerosis Alistair C. JonesJulian R. SampsonJeremy P. Cheadle Original Investigation 30 May 2000 Pages: 663 - 668
Acquired pericentric inversion of chromosome 9 in essential thrombocythemia T. S. K. WanS. K. MaL. C. Chan Letter to the Editor 19 May 2000 Pages: 669 - 670