Associated Papers
Domain mapping of disease mutations reveals pathogenic SORL1 variants in Alzheimer's disease.
Andersen OM et al.
Molecular Neurodegeneration, 2025
Gene Variant Spectrum in Probands With Familial Exudative Vitreoretinopathy Using an Expanded Panel.
van der Ende S et al.
Investigative Ophthalmology & Visual Science, 2025
Diagnostic yield of bone fragility gene panel sequencing in children and young adults referred for idiopathic primary osteoporosis at a single regional reference centre.
Rouleau C et al.
Bone Reports, 2022
A novel statistical method for interpreting the pathogenicity of rare variants.
Wang J et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
Primary Osteoporosis in Young Adults: Genetic Basis and Identification of Novel Variants in Causal Genes.
Collet C et al.
Jbmr Plus, 2018
Characterization of Disease-Associated Mutations in Human Transmembrane Proteins.
Molnár J et al.
Plos One, 2016
Association of the A1330V and V667M polymorphisms of LRP5 with bone mineral density in Greek peri- and postmenopausal women.
Markatseli AE et al.
Maturitas, 2011
The genetics of low-density lipoprotein receptor-related protein 5 in bone: a story of extremes.
Balemans W et al.
Endocrinology, 2007
Association of a single-nucleotide variation (A1330V) in the low-density lipoprotein receptor-related protein 5 gene (LRP5) with bone mineral density in adult Japanese women.
Ezura Y et al.
Bone, 2007
Low-density lipoprotein receptor-related protein 5 (LRP5) gene polymorphisms are associated with bone mass in both Chinese and whites.
Xiong DH et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2007
LRP5 gene polymorphisms and idiopathic osteoporosis in men.
Ferrari SL et al.
Bone, 2005
Clinical and molecular findings in osteoporosis-pseudoglioma syndrome.
Ai M et al.
American Journal of Human Genetics, 2005
Gene variants for osteoporosis and their pleiotropic effects in aging.
Ferrari SL et al.
Molecular Aspects of Medicine, 2005
Pathogenic mutations and polymorphisms in the lipoprotein receptor-related protein 5 reveal a new biological pathway for the control of bone mass.
Ferrari SL et al.
Current Opinion in Lipidology, 2005
LRP5 gene polymorphisms predict bone mass and incident fractures in elderly Australian women.
Bollerslev J et al.
Bone, 2005
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 whites.
Ferrari SL et al.
American Journal of Human Genetics, 2004