The murine orthologue of the Golgi-localized TPTE protein provides clues to the evolutionary history of the human TPTE gene family Michel GuipponiCaroline TapparelStylianos E. Antonarakis Original Investigation 27 October 2001 Pages: 569 - 575
A new strategy for the detection of subtelomeric rearrangements Christine FauthHongen ZhangMichael R. Speicher Original Investigation 09 November 2001 Pages: 576 - 583
Mutation spectrum and splicing variants in the OPA1 gene Cécile DelettreJean-Michel GriffoinChristian P. Hamel Original Investigation 30 October 2001 Pages: 584 - 591
Qualitative and quantitative analysis of mRNA associated with four putative splicing mutations (621+3A→G, 2751+2T→A, 296+1G→C, 1717–9T→C-D565G) and one nonsense mutation (E822X) in the CFTR gene Maria TzetisAlexandra EfthymiadouEmmanuel Kanavakis Original Investigation 06 November 2001 Pages: 592 - 601
The molecular basis of familial hypercholesterolemia in The Netherlands Sigrid W. FouchierJoep C. DefescheJohn J. Kastelein Original Investigation 09 November 2001 Pages: 602 - 615
Characterisation of two mutations in the ABCD1 gene leading to low levels of normal ALDP Carla P. GuimarãesManuela LemosJorge E. Azevedo Original Investigation 26 October 2001 Pages: 616 - 622
TGFβ1 allele association with asthma severity Louise J. PulleynRobert NewtonPeter J. Barnes Original Investigation 27 October 2001 Pages: 623 - 627
A full-length and potentially active LINE element is integrated polymorphically within the IGL locus in a genomically unstable region of chromosome 22 Suzanne M. BenjesChristine M. Morris Original Investigation 27 October 2001 Pages: 628 - 637
Hemifacial microsomia: progress in understanding the genetic basis of a complex malformation syndrome D. KelbermanJ. TysonM. Bitner-Glindzicz Original Investigation 26 October 2001 Pages: 638 - 645
Substantial linkage disequilibrium across the insulin-degrading enzyme locus but no association with late-onset Alzheimer's disease Richard AbrahamAmanda MyersLesley Jones Original Investigation 01 November 2001 Pages: 646 - 652
Phenotypic variability at the TGF-β1 locus in Camurati-Engelmann disease Ana Campos-XavierJorge M. SaraivaValérie Cormier-Daire Original Investigation 09 November 2001 Pages: 653 - 658
Armenian Y chromosome haplotypes reveal strong regional structure within a single ethno-national group Michael E. WealeLevon YepiskoposyanMark G. Thomas Original Investigation 30 October 2001 Pages: 659 - 674
ASP – a simulation-based power calculator for genetic linkage studies of qualitative traits, using sib-pairs Michael Krawczak Short Report 09 November 2001 Pages: 675 - 677
The HUGO Gene Nomenclature Committee (HGNC) Sue PoveyRuth LoveringHester Wain Nomenclature Recommendations 24 October 2001 Pages: 678 - 680
Karen Steinberg: The Genetic Basis of Cancer [CD Rom] Elizabeth A. France Software Review 06 November 2001 Pages: 681 - 681
Are we hardwired? The role of genes in human behaviour Tom Wilkie Book Review 24 October 2001 Pages: 682 - 682
Christopher Gillberg and Mary Coleman: The biology of the autistic syndromes, 3rd edn Anita Thapar Book Review 30 October 2001 Pages: 683 - 683
Krystyne E. Wisniewski and Nanbert Zhong (eds): Batten disease: diagnosis, treatment and research. (Advances in Genetics, vol 45) Mark Gardiner Book Review 30 October 2001 Pages: 684 - 684
Ettore Olmo and Carlo Alberto Redi (eds): Chromosomes today, vol 13 Michael R. Speicher Book Review 30 October 2001 Pages: 685 - 685
Eberhard Passarge: Color Atlas of Genetics. (2nd edition, enlarged and revised) Nick Fleming Book Review 31 October 2001 Pages: 686 - 686
G. Scherer and M. Schmid (eds): Genes and mechanisms in vertebrate sex determination Neil Brockdorff Book Review 31 October 2001 Pages: 687 - 688
