Comparison of Bone Microarchitecture Between Adult Osteogenesis Imperfecta and Early-Onset Osteoporosis

Diagnostic strategies and genotype-phenotype correlation in a large Indian cohort of osteogenesis imperfecta

(2018) Julia Mrosk et al.   BONE

Disease Duration and Stage Influence Bone Microstructure in Patients With Primary Biliary Cholangitis

(2018) Tobias Schmidt et al.   JOURNAL OF BONE AND MINERAL RESEARCH

Mutational analysis uncovers monogenic bone disorders in women with pregnancy-associated osteoporosis: three novel mutations in LRP5, COL1A1, and COL1A2

(2018) S. Butscheidt et al.   OSTEOPOROSIS INTERNATIONAL

Changes in cortical microarchitecture are independent of areal bone mineral density in patients with fragility fractures

(2017) Haider Mussawy et al.   INJURY-INTERNATIONAL JOURNAL OF THE CARE OF THE INJURED

BPS804 Anti-Sclerostin Antibody in Adults With Moderate Osteogenesis Imperfecta: Results of a Randomized Phase 2a Trial

(2017) Francis H Glorieux et al.   JOURNAL OF BONE AND MINERAL RESEARCH

A novel COL1A2 C-propeptide cleavage site mutation causing high bone mass osteogenesis imperfecta with a regional distribution pattern

(2017) T. Rolvien et al.   OSTEOPOROSIS INTERNATIONAL

A NovelANO5Mutation Causing Gnathodiaphyseal Dysplasia With High Bone Turnover Osteosclerosis

(2016) Tim Rolvien et al.   JOURNAL OF BONE AND MINERAL RESEARCH

Osteoblast Malfunction Caused by Cell Stress Response to Procollagen Misfolding in α2(I)-G610C Mouse Model of Osteogenesis Imperfecta

(2016) Lynn S Mirigian et al.   JOURNAL OF BONE AND MINERAL RESEARCH

Osteogenesis imperfecta

(2016) Antonella Forlino et al.   LANCET

Skeletal phenotypes in adult patients with osteogenesis imperfecta—correlations with COL1A1/COL1A2 genotype and collagen structure

(2016) J. D. Hald et al.   OSTEOPOROSIS INTERNATIONAL

Two Rare Mutations in theCOL1A2Gene Associate With Low Bone Mineral Density and Fractures in Iceland

(2015) Unnur Styrkarsdottir et al.   JOURNAL OF BONE AND MINERAL RESEARCH

Age- and Sex-Specific Bone Structure Patterns Portend Bone Fragility in Radii and Tibiae in Relation to Osteodensitometry: A High-Resolution Peripheral Quantitative Computed Tomography Study in 385 Individuals

(2015) Petar Milovanovic et al.   JOURNALS OF GERONTOLOGY SERIES A-BIOLOGICAL SCIENCES AND MEDICAL SCIENCES

Bone structure assessed by HR-pQCT, TBS and DXL in adult patients with different types of osteogenesis imperfecta

(2015) R. Kocijan et al.   OSTEOPOROSIS INTERNATIONAL

Effective diagnosis of genetic disease by computational phenotype analysis of the disease-associated genome

(2014) T. Zemojtel et al.   Science Translational Medicine

Mutations in WNT1 Cause Different Forms of Bone Fragility

(2013) Katharina Keupp et al.   AMERICAN JOURNAL OF HUMAN GENETICS

PLS3 Mutations in X-Linked Osteoporosis with Fractures

(2013) Fleur S. van Dijk et al.   NEW ENGLAND JOURNAL OF MEDICINE

WNT1 Mutations in Early-Onset Osteoporosis and Osteogenesis Imperfecta

(2013) Christine M. Laine et al.   NEW ENGLAND JOURNAL OF MEDICINE

Bone geometry, density, and microarchitecture in the distal radius and tibia in adults with osteogenesis imperfecta type I assessed by high-resolution pQCT

(2012) Lars Folkestad et al.   JOURNAL OF BONE AND MINERAL RESEARCH

New perspectives on osteogenesis imperfecta

(2011) Antonella Forlino et al.   Nature Reviews Endocrinology

Bone mass, bone markers and prevalence of fractures in adults with osteogenesis imperfecta

(2011) Lena Lande Wekre et al.   Archives of Osteoporosis

Mutation analysis of coding sequences for type I procollagen in individuals with low bone density

(2010) Loretta D. Spotila et al.   JOURNAL OF BONE AND MINERAL RESEARCH

Low density lipoprotein receptor-related protein 5 (LRP5) mutations and osteoporosis, impaired glucose metabolism and hypercholesterolaemia

(2009) Anne Saarinen et al.   CLINICAL ENDOCRINOLOGY

CRTAP mutations in lethal and severe osteogenesis imperfecta: the importance of combining biochemical and molecular genetic analysis

(2009) Fleur S Van Dijk et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

ER Stress-Mediated Apoptosis in a New Mouse Model of Osteogenesis imperfecta

(2008) Thomas S. Lisse et al.   PLoS Genetics