1. Y chromosomal haplogroup J as a signature of the post-neolithic colonization of Europe

   • F. Di Giacomo
   • F. Luca
   • A. Novelletto

   Original Investigation 21 August 2004 Pages: 357 - 371

   

2. First case of aplastic anemia in a Japanese child with a homozygous missense mutation in the NBS1 gene (I171V) associated with genomic instability

   • Hiroyuki Shimada
   • Kimiko Shimizu
   • Misao Ohki

   Original Investigation 24 August 2004 Pages: 372 - 376

   

3. Positive selection in MAOA gene is human exclusive: determination of the putative amino acid change selected in the human lineage

   • Aida M. Andrés
   • Marta Soldevila
   • Jaume Bertranpetit

   Original Investigation 03 September 2004 Pages: 377 - 386

   

4. A longitudinal study of X-inactivation ratio in human females

   • Ionel Sandovici
   • Anna K. Naumova
   • Carmen Sapienza

   Original Investigation 28 August 2004 Pages: 387 - 392

   

5. 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. Sanghera
   • Susan Manzi
   • M. Ilyas Kamboh

   Original Investigation 18 August 2004 Pages: 393 - 398

6. Functional disomy resulting from duplications of distal Xq in four unrelated patients

   • Katherine L. Lachlan
   • Morag N. Collinson
   • N. Simon Thomas

   Original Investigation 24 August 2004 Pages: 399 - 408

   

7. Analysis of genes implicated in iron regulation in individuals presenting with primary iron overload

   • Monique G. Zaahl
   • Alison T. Merryweather-Clarke
   • Kathryn J. H. Robson

   Original Investigation 24 August 2004 Pages: 409 - 417

   

8. 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 Bionda
   • Xing Jun Li
   • Marie-José Stasia

   Original Investigation 24 August 2004 Pages: 418 - 427

   

9. Low prevalence of MYOC mutations in UK primary open-angle glaucoma patients limits the utility of genetic testing

   • Micheala A. Aldred
   • Laura Baumber
   • Richard C. Trembath

   Original Investigation 25 August 2004 Pages: 428 - 431

10. A large MSH2 Alu insertion mutation causes HNPCC in a German kindred

    • Matthias Kloor
    • Christian Sutter
    • Johannes Gebert

    Original Investigation 31 August 2004 Pages: 432 - 438

    

11. Insights into the western Bantu dispersal: mtDNA lineage analysis in Angola

    • Stéphanie Plaza
    • Antonio Salas
    • David Comas

    Original Investigation 01 September 2004 Pages: 439 - 447

    

12. Telomerase RNA deficiency in peripheral blood mononuclear cells in X-linked dyskeratosis congenita

    • Judy M. Y. Wong
    • Mouhammed J. Kyasa
    • Kathleen Collins

    Original Investigation 03 September 2004 Pages: 448 - 455

    

13. 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

14. 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