ATM haplotypes and associated mutations in Iranian patients with ataxia–telangiectasia: recurring homozygosity without a founder haplotype Mahnoush BabaeiMidori MituiRichard A. Gatti Original Investigation 21 April 2005 Pages: 101 - 106
Genetic analysis of adiponectin and obesity in Hispanic families: the IRAS Family Study Beth S. SuttonStefanie WeinertDonald W. Bowden Original Investigation 21 April 2005 Pages: 107 - 118
Molecular and genealogical characterization of the R1443X BRCA1 mutation in high-risk French-Canadian breast/ovarian cancer families Hélène VézinaFrancine DurocherJacques Simard Original Investigation 10 May 2005 Pages: 119 - 132
SNPs in the neural cell adhesion molecule 1 gene (NCAM1) may be associated with human neural tube defects Kristen L. DeakAbee L. BoylesNTD Collaborative Group Original Investigation 10 May 2005 Pages: 133 - 142
A newly identified RET proto-oncogene polymorphism is found in a high number of endocrine tumor patients Wolfgang GartnerIvelina MinevaLudwig Wagner Original Investigation 20 April 2005 Pages: 143 - 153
A locus for familial generalized lentiginosis without systemic involvement maps to chromosome 4q21.1–q22.3 Qinghe XingXiangdong ChenLin He Original Investigation 20 April 2005 Pages: 154 - 159
The importance of modelling heterogeneity in complex disease: application to NIMH Schizophrenia Genetics Initiative data Elizabeth HollidayBryan MowryDale Nyholt Original Investigation 21 April 2005 Pages: 160 - 167
Molecular characterisation of the pericentric inversion that distinguishes human chromosome 5 from the homologous chimpanzee chromosome Justyna M. SzamalekViolaine GoidtsHildegard Kehrer-Sawatzki Original Investigation 10 May 2005 Pages: 168 - 176
Anatomy of a founder effect: myotonic dystrophy in Northeastern Quebec Vania YotovaDamian LabudaClaude Laberge Original Investigation 10 May 2005 Pages: 177 - 187
Identifying nineteenth century genealogical links from genotypes Jim StankovichMelanie BahloTerence P. Speed Original Investigation 10 May 2005 Pages: 188 - 199
A case of autism and uniparental disomy of chromosome 1 Thomas H. WassinkMolly LoshVal C. Sheffield Original Investigation 11 May 2005 Pages: 200 - 206
Localisation of merosin-positive congenital muscular dystrophy to chromosome 4p16.3 G. S. SellickC. LongmanR. S. Houlston Original Investigation 11 May 2005 Pages: 207 - 212
Evolution versus constitution: differences in chromosomal inversion S. SchmidtU. ClaussenA. Weise Original Investigation 11 May 2005 Pages: 213 - 219
Decreased transcription of the human FCGR2B gene mediated by the -343 G/C promoter polymorphism and association with systemic lupus erythematosus Marissa C. BlankRadu N. StefanescuLuminita Pricop Original Investigation 14 May 2005 Pages: 220 - 227
Functional evaluation of Dent’s disease-causing mutations: implications for ClC-5 channel trafficking and internalization Michael LudwigJolanta DoroszewiczSiegfried Waldegger Original Investigation 14 May 2005 Pages: 228 - 237
Lymphoedema-distichiasis and FOXC2: unreported mutations, de novo mutation estimate, families without coding mutations Carolyn Sholto-Douglas-VernonRachel BellSteve Jeffery Original Investigation 20 May 2005 Pages: 238 - 242
Fetal DNA detection in maternal plasma throughout gestation Silvia GalbiatiMaddalena SmidLaura Cremonesi Original Investigation 20 May 2005 Pages: 243 - 248
Evidence for a novel glaucoma locus at chromosome 3p21-22 Paul N. BairdSimon J. FooteAlexandre Bureau Original Investigation 20 May 2005 Pages: 249 - 257
Haplotype structure and phylogenetic shadowing of a hypervariable region in the CAPN10 gene Vanessa J. ClarkNancy J. CoxAnna Di Rienzo Original Investigation 20 May 2005 Pages: 258 - 266
Genetic dissection of gene expression observed in whole blood samples of elderly Danish twins Qihua TanKaare ChristensenTorben A. Kruse Original Investigation 20 May 2005 Pages: 267 - 274
A mutation within the saposin D domain in a Gaucher disease patient with normal glucocerebrosidase activity Anna Diaz-FontBru CormandAmparo Chabás Short Report 23 April 2005 Pages: 275 - 277
The development of human genetics in Germany; a personal view F. Vogel Historical & Personal Perspectives 11 May 2005 Pages: 278 - 284
A century later Farabee has his mutation M. Elizabeth McCreadyAllison GrimseyDennis E. Bulman Letter to the Editors 11 May 2005 Pages: 285 - 287
The ratio of maternal to paternal UPD associated with recessive diseases Angela M. Vianna-MorganteThe Human Cytogenetic Study Group Letter to the Editors 14 May 2005 Pages: 288 - 290
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
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