Molecular evaluation of foetuses with holoprosencephaly shows high incidence of microdeletions in the HPE genes Claude BendavidChristèle DubourgVéronique David Original Investigation 02 December 2005 Pages: 1 - 8
Aberrant splicing in MLH1 and MSH2 due to exonic and intronic variants Constanze PagenstecherMaria WehnerElisabeth Mangold Original Investigation 08 December 2005 Pages: 9 - 22
Equal proportions of affected cells in muscle and blood of a mosaic carrier of facioscapulohumeral muscular dystrophy Maria Manuela O. ToniniRichard J.L.F. LemmersMayana Zatz Original Investigation 08 December 2005 Pages: 23 - 28
Towards compendia of negative genetic association studies: an example for Alzheimer disease Mia E-L. BlomqvistChandra ReynoldsJonathan A. Prince Original Investigation 08 December 2005 Pages: 29 - 37
Detecting genome wide haplotype sharing using SNP or microsatellite haplotype data Melanie BahloJim StankovichSimon J. Foote Original Investigation 14 December 2005 Pages: 38 - 50
Evidence for novel loci for late-onset Parkinson’s disease in a genetic isolate from the Netherlands Aida M. Bertoli-AvellaMarieke C. J. DekkerBen A. Oostra Original Investigation 14 December 2005 Pages: 51 - 60
Allelic diversity in the TGFB1 regulatory region: characterization of novel functional single nucleotide polymorphisms Riddhish ShahBrad RahamanPhillip E. Posch Original Investigation 14 December 2005 Pages: 61 - 74
Large-scale characterization of public database SNPs causing non-synonymous changes in three ethnic groups James IrelandVictoria E.H. CarltonMalek Faham Original Investigation 14 December 2005 Pages: 75 - 83
Functional polymorphisms of FGA, encoding α fibrinogen, are associated with susceptibility to venous thromboembolism in a Taiwanese population Yu-Lin KoLung-An HsuYing-Shiung Lee Original Investigation 14 December 2005 Pages: 84 - 91
Searching for signals of evolutionary selection in 168 genes related to immune function Emily C. WalshPardis SabetiDavid Altshuler Original Investigation 14 December 2005 Pages: 92 - 102
Polymorphic micro-inversions contribute to the genomic variability of humans and chimpanzees Justyna M. SzamalekDavid N. CooperHildegard Kehrer-Sawatzki Original Investigation 16 December 2005 Pages: 103 - 112
Peptidoglycan recognition proteins Pglyrp3 and Pglyrp4 are encoded from the epidermal differentiation complex and are candidate genes for the Psors4 locus on chromosome 1q21 Chao SunPunam MathurJohn Carulli Original Investigation 17 December 2005 Pages: 113 - 125
Novel and recurrent rearrangements in the CFTR gene: clinical and laboratory implications for cystic fibrosis screening Feras M. HantashJoy B. RedmanCharles M. Strom Original Investigation 17 December 2005 Pages: 126 - 136
Propensity for paternal inheritance of de novo mutations in Alexander disease Rong LiAnne B. JohnsonMichael Brenner Original Investigation 20 December 2005 Pages: 137 - 144
Micro-array analyses decipher exceptional complex familial chromosomal rearrangement Christine FauthSusan M. GribbleMichael R. Speicher Original Investigations 03 January 2006 Pages: 145 - 153
A SALL4 zinc finger missense mutation predicted to result in increased DNA binding affinity is associated with cranial midline defects and mild features of Okihiro syndrome Jan MiertusWiktor BorozdinJürgen Kohlhase Original Investigation 03 January 2006 Pages: 154 - 161
Molecular genetic analysis of a de novo balanced translocation t(6;17)(p21.31;q11.2) associated with hypospadias and anorectal malformation Mahmoud Reza MansouriBirgit CarlssonNiklas Dahl Original Investigation 03 January 2006 Pages: 162 - 168
Human-specific nonsense mutations identified by genome sequence comparisons Yoonsoo HahnByungkook Lee Original Investigation 10 February 2006 Pages: 169 - 178
Epimutation of the TNDM locus and the Beckwith–Wiedemann syndrome centromeric locus in individuals with transient neonatal diabetes mellitus D. J. G MackayJ. M. D. HahnemannI. K. Temple Original Investigation 05 January 2006 Pages: 179 - 184
Identification of large-scale human-specific copy number differences by inter-species array comparative genomic hybridization Violaine GoidtsLluis ArmengolHildegard Kehrer-Sawatzki Original Investigation 05 January 2006 Pages: 185 - 198
A novel heterozygous deletion in the EVC2 gene causes Weyers acrofacial dysostosis Xiaoqian YeGuangtai SongZhuan Bian Original Investigation 11 January 2006 Pages: 199 - 205
MUTYH and the mismatch repair system: partners in crime? Renée C. NiessenRolf H. SijmonsRobert M. W. Hofstra Original Investigation 12 January 2006 Pages: 206 - 211
Y-chromosomes and the extent of patrilineal ancestry in Irish surnames Brian McEvoyDaniel G. Bradley Original Investigation 12 January 2006 Pages: 212 - 219
On the utility of data from the International HapMap Project for Australian association studies Jim StankovichCharles J. CoxSimon J. Foote Short Report 11 January 2006 Pages: 220 - 222
Different population histories of the Mundari- and Mon-Khmer-speaking Austro-Asiatic tribes inferred from the mtDNA 9-bp deletion/insertion polymorphism in Indian populations Kumarasamy ThangarajVempati SridharLalji Singh Erratum 13 January 2006 Pages: 223 - 224
CTLA4 is differently associated with autoimmune diseases in the Dutch population Alexandra ZhernakovaPeter EerlighBobby P. C. Koeleman Erratum 08 December 2005 Pages: 225 - 225
The discovery of the human chromosome number in Lund, 1955–1956 Peter S. Harper Historical & Personal Perspectives 04 February 2006 Pages: 226 - 232
