1. ATM haplotypes and associated mutations in Iranian patients with ataxia–telangiectasia: recurring homozygosity without a founder haplotype

   • Mahnoush Babaei
   • Midori Mitui
   • Richard A. Gatti

   Original Investigation 21 April 2005 Pages: 101 - 106

   

2. Genetic analysis of adiponectin and obesity in Hispanic families: the IRAS Family Study

   • Beth S. Sutton
   • Stefanie Weinert
   • Donald W. Bowden

   Original Investigation 21 April 2005 Pages: 107 - 118

   

3. Molecular and genealogical characterization of the R1443X BRCA1 mutation in high-risk French-Canadian breast/ovarian cancer families

   • Hélène Vézina
   • Francine Durocher
   • Jacques Simard

   Original Investigation 10 May 2005 Pages: 119 - 132

   

4. SNPs in the neural cell adhesion molecule 1 gene (NCAM1) may be associated with human neural tube defects

   • Kristen L. Deak
   • Abee L. Boyles
   • NTD Collaborative Group

   Original Investigation 10 May 2005 Pages: 133 - 142

   

5. A newly identified RET proto-oncogene polymorphism is found in a high number of endocrine tumor patients

   • Wolfgang Gartner
   • Ivelina Mineva
   • Ludwig Wagner

   Original Investigation 20 April 2005 Pages: 143 - 153

   

6. A locus for familial generalized lentiginosis without systemic involvement maps to chromosome 4q21.1–q22.3

   • Qinghe Xing
   • Xiangdong Chen
   • Lin He

   Original Investigation 20 April 2005 Pages: 154 - 159

   

7. The importance of modelling heterogeneity in complex disease: application to NIMH Schizophrenia Genetics Initiative data

   • Elizabeth Holliday
   • Bryan Mowry
   • Dale Nyholt

   Original Investigation 21 April 2005 Pages: 160 - 167

   

8. Molecular characterisation of the pericentric inversion that distinguishes human chromosome 5 from the homologous chimpanzee chromosome

   • Justyna M. Szamalek
   • Violaine Goidts
   • Hildegard Kehrer-Sawatzki

   Original Investigation 10 May 2005 Pages: 168 - 176

   

9. Anatomy of a founder effect: myotonic dystrophy in Northeastern Quebec

   • Vania Yotova
   • Damian Labuda
   • Claude Laberge

   Original Investigation 10 May 2005 Pages: 177 - 187

   

10. Identifying nineteenth century genealogical links from genotypes

    • Jim Stankovich
    • Melanie Bahlo
    • Terence P. Speed

    Original Investigation 10 May 2005 Pages: 188 - 199

    

11. A case of autism and uniparental disomy of chromosome 1

    • Thomas H. Wassink
    • Molly Losh
    • Val C. Sheffield

    Original Investigation 11 May 2005 Pages: 200 - 206

    

12. Localisation of merosin-positive congenital muscular dystrophy to chromosome 4p16.3

    • G. S. Sellick
    • C. Longman
    • R. S. Houlston

    Original Investigation 11 May 2005 Pages: 207 - 212

    

13. Evolution versus constitution: differences in chromosomal inversion

    • S. Schmidt
    • U. Claussen
    • A. Weise

    Original Investigation 11 May 2005 Pages: 213 - 219

    

14. Decreased transcription of the human FCGR2B gene mediated by the -343 G/C promoter polymorphism and association with systemic lupus erythematosus

    • Marissa C. Blank
    • Radu N. Stefanescu
    • Luminita Pricop

    Original Investigation 14 May 2005 Pages: 220 - 227

    

15. Functional evaluation of Dent’s disease-causing mutations: implications for ClC-5 channel trafficking and internalization

    • Michael Ludwig
    • Jolanta Doroszewicz
    • Siegfried Waldegger

    Original Investigation 14 May 2005 Pages: 228 - 237

    

16. Lymphoedema-distichiasis and FOXC2: unreported mutations, de novo mutation estimate, families without coding mutations

    • Carolyn Sholto-Douglas-Vernon
    • Rachel Bell
    • Steve Jeffery

    Original Investigation 20 May 2005 Pages: 238 - 242

    

17. Fetal DNA detection in maternal plasma throughout gestation

    • Silvia Galbiati
    • Maddalena Smid
    • Laura Cremonesi

    Original Investigation 20 May 2005 Pages: 243 - 248

    

18. Evidence for a novel glaucoma locus at chromosome 3p21-22

    • Paul N. Baird
    • Simon J. Foote
    • Alexandre Bureau

    Original Investigation 20 May 2005 Pages: 249 - 257

    

19. Haplotype structure and phylogenetic shadowing of a hypervariable region in the CAPN10 gene

    • Vanessa J. Clark
    • Nancy J. Cox
    • Anna Di Rienzo

    Original Investigation 20 May 2005 Pages: 258 - 266

    

20. Genetic dissection of gene expression observed in whole blood samples of elderly Danish twins

    • Qihua Tan
    • Kaare Christensen
    • Torben A. Kruse

    Original Investigation 20 May 2005 Pages: 267 - 274

    

21. A mutation within the saposin D domain in a Gaucher disease patient with normal glucocerebrosidase activity

    • Anna Diaz-Font
    • Bru Cormand
    • Amparo Chabás

    Short Report 23 April 2005 Pages: 275 - 277

    

22. The development of human genetics in Germany; a personal view

    • F. Vogel

    Historical & Personal Perspectives 11 May 2005 Pages: 278 - 284

23. A century later Farabee has his mutation

    • M. Elizabeth McCready
    • Allison Grimsey
    • Dennis E. Bulman

    Letter to the Editors 11 May 2005 Pages: 285 - 287

    

24. The ratio of maternal to paternal UPD associated with recessive diseases

    • Angela M. Vianna-Morgante
    • The Human Cytogenetic Study Group

    Letter to the Editors 14 May 2005 Pages: 288 - 290

25. Eric Lander, David Page, Aravinda Chakravarti (eds): Annual review of genomics and human genetics, volume 5. Annual Reviews, Palo Alto, 2004 (ISBN 0-8243-3705-0), hardcover

    • Ian D Young

    Book Review 10 May 2005 Pages: 291 - 291

26. Gersen SL, Keagle MB (eds): The principles of clinical cytogenetics, 2nd edn. Humana Press, 2005 (ISBN 1-58829-300-9), hardcover, $145.00

    • John C. K. Barber

    Book Review 11 May 2005 Pages: 292 - 293

27. Human Gene Mutations

    Human Gene Mutations 18 June 2005 Pages: 294 - 302

28. Acknowledgement to Referees 2004

    Acknowledgement to Referees 18 June 2005 Pages: 303 - 305