Background The multifactorial Breast and Ovarian Analysis of Disease Incidence and Carrier Estimation Algorithm (BOADICEA) breast cancer risk prediction model has been recently extended to consider ...

This study was conducted on 3212 Saudi families to investigate the prevalence of consanguineous marriages. The families were interviewed and the information on the relationship between the husband and ...

A familial reciprocal translocation t(6p+;11q−) is presented, unbalanced (6p+) in the craniorachischisic propositus and balanced in his phenotypically normal father, associated with relative ...

1 Program in Molecular Medicine, University of Massachusetts Medical School, 373 Plantation Street, Worcester, MA 01605, USA 2 Department of Cell Biology, University of Massachusetts Medical School, ...

Background Fabry disease is a progressive multisystemic disease, which affects the kidney and cardiovascular systems. Various treatments exist but decisions on how and when to treat are contentious.

6 Department of Clinical Genetics, Center for Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands 7 Department of Medical Genetics, University Medical Center Utrecht ...

In recent years, subtelomeric rearrangements have been identified as a major cause of mental retardation and/or malformation syndromes. So far, over 2500 subjects with mental retardation have been ...

1 Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada 2 Center for Cellular and Biomolecular Research, University of Toronto, Toronto, Ontario, Canada 3 ...

Background: Patients with neurofibromatosis 1 (NF1) are shorter than expected and often have low bone mineral density (BMD), but the pathogenesis of these bony problems is poorly understood. Methods: ...

Background Type II, IX and XI collagenopathies encompass Stickler syndrome and a spectrum of related connective tissue disorders with diverse and overlapping phenotypes. This study evaluated outcomes ...