Related references
Note: Only part of the references are listed.A novel COL1A2 C-propeptide cleavage site mutation causing high bone mass osteogenesis imperfecta with a regional distribution pattern
T. Rolvien et al.
OSTEOPOROSIS INTERNATIONAL (2018)
Diagnostic strategies and genotype-phenotype correlation in a large Indian cohort of osteogenesis imperfecta
Julia Mrosk et al.
BONE (2018)
Disease Duration and Stage Influence Bone Microstructure in Patients With Primary Biliary Cholangitis
Tobias Schmidt et al.
JOURNAL OF BONE AND MINERAL RESEARCH (2018)
Mutational analysis uncovers monogenic bone disorders in women with pregnancy-associated osteoporosis: three novel mutations in LRP5, COL1A1, and COL1A2
S. Butscheidt et al.
OSTEOPOROSIS INTERNATIONAL (2018)
A Novel ANO5 Mutation Causing Gnathodiaphyseal Dysplasia With High Bone Turnover Osteosclerosis
Tim Rolvien et al.
JOURNAL OF BONE AND MINERAL RESEARCH (2017)
Changes in cortical microarchitecture are independent of areal bone mineral density in patients with fragility fractures
Haider Mussawy et al.
INJURY-INTERNATIONAL JOURNAL OF THE CARE OF THE INJURED (2017)
BPS804 Anti-Sclerostin Antibody in Adults With Moderate Osteogenesis Imperfecta: Results of a Randomized Phase 2a Trial
Francis H. Glorieux et al.
JOURNAL OF BONE AND MINERAL RESEARCH (2017)
Two Rare Mutations in the COL1A2 Gene Associate With Low Bone Mineral Density and Fractures in Iceland
Unnur Styrkarsdottir et al.
JOURNAL OF BONE AND MINERAL RESEARCH (2016)
Osteoblast Malfunction Caused by Cell Stress Response to Procollagen Misfolding in α2(I)-G610C Mouse Model of Osteogenesis Imperfecta
Lynn S. Mirigian et al.
JOURNAL OF BONE AND MINERAL RESEARCH (2016)
Skeletal phenotypes in adult patients with osteogenesis imperfecta-correlations with COL1A1/COL1A2 genotype and collagen structure
J. D. Hald et al.
OSTEOPOROSIS INTERNATIONAL (2016)
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
Petar Milovanovic et al.
JOURNALS OF GERONTOLOGY SERIES A-BIOLOGICAL SCIENCES AND MEDICAL SCIENCES (2015)
Bone structure assessed by HR-pQCT, TBS and DXL in adult patients with different types of osteogenesis imperfecta
R. Kocijan et al.
OSTEOPOROSIS INTERNATIONAL (2015)
Effective diagnosis of genetic disease by computational phenotype analysis of the disease-associated genome
Tomasz Zemojtel et al.
SCIENCE TRANSLATIONAL MEDICINE (2014)
Mutations in WNT1 Cause Different Forms of Bone Fragility
Katharina Keupp et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2013)
PLS3 Mutations in X-Linked Osteoporosis with Fractures
Fleur S. van Dijk et al.
NEW ENGLAND JOURNAL OF MEDICINE (2013)
WNT1 Mutations in Early-Onset Osteoporosis and Osteogenesis Imperfecta
Christine M. Laine et al.
NEW ENGLAND JOURNAL OF MEDICINE (2013)
Bone geometry, density, and microarchitecture in the distal radius and tibia in adults with osteogenesis imperfecta type I assessed by high-resolution pQCT
Lars Folkestad et al.
JOURNAL OF BONE AND MINERAL RESEARCH (2012)
New perspectives on osteogenesis imperfecta
Antonella Forlino et al.
NATURE REVIEWS ENDOCRINOLOGY (2011)
Bone mass, bone markers and prevalence of fractures in adults with osteogenesis imperfecta
Lena Lande Wekre et al.
Archives of Osteoporosis (2011)
Low density lipoprotein receptor-related protein 5 (LRP5) mutations and osteoporosis, impaired glucose metabolism and hypercholesterolaemia
Anne Saarinen et al.
CLINICAL ENDOCRINOLOGY (2010)
Mutation analysis of coding sequences for type I procollagen in individuals with low bone density
Loretta D. Spotila et al.
JOURNAL OF BONE AND MINERAL RESEARCH (2010)
CRTAP mutations in lethal and severe osteogenesis imperfecta: the importance of combining biochemical and molecular genetic analysis
Fleur S. Van Dijk et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2009)
ER stress-mediated apoptosis in a new mouse model of osteogenesis imperfecta
Thomas S. Lisse et al.
PLOS GENETICS (2008)
Alterations of cortical and trabecular architecture are associated with fractures in postmenopausal women, partially independent of decreased BMD measured by DXA: The OFELY study
Elisabeth Sornay-Rendu et al.
JOURNAL OF BONE AND MINERAL RESEARCH (2007)
Mutation Analysis of COL1A1 and COL1A2 in Patients Diagnosed With Osteogenesis Imperfecta Type I-IV
Rebecca Pollitt et al.
HUMAN MUTATION (2006)
In vivo assessment of trabecular bone microarchitecture by high-resolution peripheral quantitative computed tomography
S Boutroy et al.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2005)
Bone turnover markers in patients with osteogenesis imperfecta
V Braga et al.
BONE (2004)
The volumetric bone density and cortical thickness in adult patients affected by osteogenesis imperfecta
D Gatti et al.
JOURNAL OF CLINICAL DENSITOMETRY (2003)
Static and dynamic bone histomorphometry in children with osteogenesis imperfecta
F Rauch et al.
BONE (2000)