Regional distribution of mutations of the ATP7B gene in patients with Wilson disease: impact on genetic testing Peter Ferenci Review 22 June 2006 Pages: 151 - 159
A complete genetic association scan of the 22q11 deletion region and functional evidence reveal an association between DGCR2 and schizophrenia Sagiv ShifmanAnat LevitAriel Darvasi Original Investigation 17 June 2006 Pages: 160 - 170
A novel X-linked recessive mental retardation syndrome comprising macrocephaly and ciliary dysfunction is allelic to oral–facial–digital type I syndrome Bartlomiej BudnyWei ChenHans-Hilger Ropers Original Investigation 17 June 2006 Pages: 171 - 178
Evidence for a new contiguous gene syndrome, the chromosome 16p13.3 deletion syndrome alias severe Rubinstein–Taybi syndrome Oliver BartschSasan RasiVera M. Kalscheuer Original Investigation 17 June 2006 Pages: 179 - 186
Variants in the HEPSIN gene are associated with prostate cancer in men of European origin Prodipto PalHuifeng XiRanjan Deka Original Investigation 17 June 2006 Pages: 187 - 192
A novel trinucleotide repeat expansion at chromosome 3q26.2 identified by a CAG/CTG repeat expansion detection array S. E. HolmesJ. S. WentzellR. L. Margolis Original Investigation 17 June 2006 Pages: 193 - 200
An angiotensin converting enzyme haplotype predicts survival in patients with end stage renal disease James B. WetmoreKirsten L. JohansenDavid H. Lovett Original Investigation 22 June 2006 Pages: 201 - 210
Phenotypic characterization of Bbs4 null mice reveals age-dependent penetrance and variable expressivity Erica R. EichersMuhammad M. Abd-El-BarrJames R. Lupski Original Investigation 23 June 2006 Pages: 211 - 226
Evidence for involvement of TRE-2 (USP6) oncogene, low-copy repeat and acrocentric heterochromatin in two families with chromosomal translocations Zhishuo OuMałgorzata JarmużPaweł Stankiewicz Original Investigation 22 June 2006 Pages: 227 - 237
A novel deletion in TNNI2 causes distal arthrogryposis in a large Chinese family with marked variability of expression Miao JiangXiuli ZhaoJianxin Li Original Investigations 27 June 2006 Pages: 238 - 242
Association analysis of SOD2 variants with methamphetamine psychosis in Japanese and Taiwanese populations Kazuhiko NakamuraChih-Ken ChenNorio Mori Original Investigation 29 June 2006 Pages: 243 - 252
Detecting disease gene in DNA haplotype sequences by nonparametric dissimilarity test Ao YuanQingqi YueGeorge Bonney Original Investigation 29 June 2006 Pages: 253 - 261
A maternal hypomethylation syndrome presenting as transient neonatal diabetes mellitus D. J. G. MackayS. E. BoonenI. K. Temple Original Investigation 01 July 2006 Pages: 262 - 269
Complex patterns of copy number variation at sites of segmental duplications: an important category of structural variation in the human genome Violaine GoidtsDavid N. CooperHildegard Kehrer-Sawatzki Original Investigation 13 July 2006 Pages: 270 - 284
Genetic analysis of candidate genes modifying the age-at-onset in Huntington’s disease Silke MetzgerPeter BauerOlaf Riess Original Investigations 18 July 2006 Pages: 285 - 292
The microcell-mediated transfer of human chromosome 8 restores the deficient N-acetylytransferase activity in skin fibroblasts of Mucopolysaccharidosis type IIIC patients Volkan SeyrantepeFrédérique TihyAlexey V. Pshezhetsky Short Report 17 June 2006 Pages: 293 - 296
Cyclin D1 splice variant and risk for non-Hodgkin lymphoma Sophia S. WangWendy CozenStephen J. Chanock Short Report 17 June 2006 Pages: 297 - 300
