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American Journal of Human Genetics|April 13, 2004
Novel PMS2 pseudogenes can conceal recessive mutations causing a distinctive childhood cancer syndromeMichel De Vos, Bruce E Hayward, Susan Picton, et al.American Journal of Human Genetics|April 13, 2004
Genomewide linkage scan identifies a novel susceptibility locus for restless legs syndrome on chromosome 9pShenghan Chen, William G Ondo, Shaoqi Rao, et al.American Journal of Human Genetics|April 13, 2004
Polymorphisms in the low-density lipoprotein receptor-related protein 5 (LRP5) gene are associated with variation in vertebral bone mass, vertebral bone size, and stature in whitesSerge L Ferrari, Samuel Deutsch, Urmila Choudhury, et al.American Journal of Human Genetics|May 11, 2004
Highly significant linkage to the SLI1 locus in an expanded sample of individuals affected by specific language impairmentAmerican Journal of Human Genetics|May 5, 2004
Bias toward the null hypothesis in model-free linkage analysis is highly dependent on the test statistic usedHeather J CordellAmerican Journal of Human Genetics|May 5, 2004
The novel gene encoding a putative transmembrane protein is mutated in gnathodiaphyseal dysplasia (GDD)Satoshi Tsutsumi, Nobuyuki Kamata, Tamara J Vokes, et al.American Journal of Human Genetics|May 6, 2004
Comparative genomic hybridization-array analysis enhances the detection of aneuploidies and submicroscopic imbalances in spontaneous miscarriagesAnthony J Schaeffer, June Chung, Konstantina Heretis, et al.American Journal of Human Genetics|May 6, 2004
Somatic and germline instability of the ATTCT repeat in spinocerebellar ataxia type 10Tohru Matsuura, Ping Fang, Xi Lin, et al.American Journal of Human Genetics|March 17, 2004
Crohn disease: frequency and nature of CARD15 mutations in Ashkenazi and Sephardi/Oriental Jewish familiesTurgut Tukel, Adel Shalata, Daniel Present, et al.American Journal of Human Genetics|March 17, 2004
High proportion of mutant osteoblasts is compatible with normal skeletal function in mosaic carriers of osteogenesis imperfectaWayne A Cabral, Joan C MariniPageof 979