Y chromosomal haplogroup J as a signature of the post-neolithic colonization of Europe F. Di GiacomoF. LucaA. Novelletto Original Investigation 21 August 2004 Pages: 357 - 371
First case of aplastic anemia in a Japanese child with a homozygous missense mutation in the NBS1 gene (I171V) associated with genomic instability Hiroyuki ShimadaKimiko ShimizuMisao Ohki Original Investigation 24 August 2004 Pages: 372 - 376
Positive selection in MAOA gene is human exclusive: determination of the putative amino acid change selected in the human lineage Aida M. AndrésMarta SoldevilaJaume Bertranpetit Original Investigation 03 September 2004 Pages: 377 - 386
A longitudinal study of X-inactivation ratio in human females Ionel SandoviciAnna K. NaumovaCarmen Sapienza Original Investigation 28 August 2004 Pages: 387 - 392
Role of an intronic polymorphism in the PDCD1 gene with the risk of sporadic systemic lupus erythematosus and the occurrence of antiphospholipid antibodies Dharambir K. SangheraSusan ManziM. Ilyas Kamboh Original Investigation 18 August 2004 Pages: 393 - 398
Functional disomy resulting from duplications of distal Xq in four unrelated patients Katherine L. LachlanMorag N. CollinsonN. Simon Thomas Original Investigation 24 August 2004 Pages: 399 - 408
Analysis of genes implicated in iron regulation in individuals presenting with primary iron overload Monique G. ZaahlAlison T. Merryweather-ClarkeKathryn J. H. Robson Original Investigation 24 August 2004 Pages: 409 - 417
Functional analysis of two-amino acid substitutions in gp91phox in a patient with X-linked flavocytochrome b558-positive chronic granulomatous disease by means of transgenic PLB-985 cells Clara BiondaXing Jun LiMarie-José Stasia Original Investigation 24 August 2004 Pages: 418 - 427
Low prevalence of MYOC mutations in UK primary open-angle glaucoma patients limits the utility of genetic testing Micheala A. AldredLaura BaumberRichard C. Trembath Original Investigation 25 August 2004 Pages: 428 - 431
A large MSH2 Alu insertion mutation causes HNPCC in a German kindred Matthias KloorChristian SutterJohannes Gebert Original Investigation 31 August 2004 Pages: 432 - 438
Insights into the western Bantu dispersal: mtDNA lineage analysis in Angola Stéphanie PlazaAntonio SalasDavid Comas Original Investigation 01 September 2004 Pages: 439 - 447
Telomerase RNA deficiency in peripheral blood mononuclear cells in X-linked dyskeratosis congenita Judy M. Y. WongMouhammed J. KyasaKathleen Collins Original Investigation 03 September 2004 Pages: 448 - 455
Landmarks in medical genetics: classic papers with commentaries. Peter S. Harper (ed), Oxford University Press, New York, 2004, ISBN 0-19-515930-6, 336 pages, hardcover, $89.50 Ian D. Young Book Review 26 August 2004 Pages: 456 - 456
Jozef Gécz, Grant R. Sutherland (eds): Nucleotide and protein expansions and human disease. Karger, 2003, ISBN 3-8055-7621-8, 298 pp, hardcover, 95.50 Euros Darren G. Monckton Book Review 03 September 2004 Pages: 457 - 458