Molecular diagnosis in children with fractures but no extraskeletal signs of osteogenesis imperfecta

Osteogenesis imperfecta

(2016) Antonella Forlino et al.   LANCET

Analysis of protein-coding genetic variation in 60,706 humans

(2016) Monkol Lek et al.   NATURE

Impaired bone remodeling in children with osteogenesis imperfecta treated and untreated with bisphosphonates: the role of DKK1, RANKL, and TNF-α

(2016) G. Brunetti et al.   OSTEOPOROSIS INTERNATIONAL

DNA sequence analysis in 598 individuals with a clinical diagnosis of osteogenesis imperfecta: diagnostic yield and mutation spectrum

(2016) G. Bardai et al.   OSTEOPOROSIS INTERNATIONAL

Osteogenesis imperfecta in children and adolescents—new developments in diagnosis and treatment

(2016) P. Trejo et al.   OSTEOPOROSIS INTERNATIONAL

The management of osteoporosis in children

(2016) L. M. Ward et al.   OSTEOPOROSIS INTERNATIONAL

Osteoporosis and Bone Mass Disorders: From Gene Pathways to Treatments

(2016) Fernando Rivadeneira et al.   TRENDS IN ENDOCRINOLOGY AND METABOLISM

Idiopathic Juvenile Osteoporosis: Clinical Experience from a Single Centre and Screening of LRP5 and LRP6 Genes

(2015) Roberto Franceschi et al.   CALCIFIED TISSUE INTERNATIONAL

Genetic epidemiology, prevalence, and genotype–phenotype correlations in the Swedish population with osteogenesis imperfecta

(2015) Katarina Lindahl et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

(2015) Sue Richards et al.   GENETICS IN MEDICINE

RNA mis-splicing in disease

(2015) Marina M. Scotti et al.   NATURE REVIEWS GENETICS

A look behind the scenes: the risk and pathogenesis of primary osteoporosis

(2015) Gretl Hendrickx et al.   Nature Reviews Rheumatology

A polyadenylation site variant causes transcript-specific BMP1 deficiency and frequent fractures in children

(2014) Somayyeh Fahiminiya et al.   HUMAN MOLECULAR GENETICS

Osteoporosis Caused by Mutations inPLS3: Clinical and Bone Tissue Characteristics

(2014) Somayyeh Fahiminiya et al.   JOURNAL OF BONE AND MINERAL RESEARCH

Skeletal clinical characteristics of osteogenesis imperfecta caused by haploinsufficiency mutations inCOL1A1

(2013) I Mouna Ben Amor et al.   JOURNAL OF BONE AND MINERAL RESEARCH

Bone Strength and Structural Deficits in Children and Adolescents With a Distal Forearm Fracture Resulting From Mild Trauma

(2013) Joshua N Farr et al.   JOURNAL OF BONE AND MINERAL RESEARCH

WNT signaling in bone homeostasis and disease: from human mutations to treatments

(2013) Roland Baron et al.   NATURE MEDICINE

Mutations in LRP5 cause primary osteoporosis without features of OI by reducing Wnt signaling activity

(2012) Johanna Korvala et al.   BMC Medical Genetics

Bone mineral content and density of the lumbar spine of infants and toddlers: Influence of age, sex, race, growth, and human milk feeding

(2012) Heidi J Kalkwarf et al.   JOURNAL OF BONE AND MINERAL RESEARCH

LRP5 and LRP6 in development and disease

(2012) Danese M. Joiner et al.   TRENDS IN ENDOCRINOLOGY AND METABOLISM

Revised Reference Curves for Bone Mineral Content and Areal Bone Mineral Density According to Age and Sex for Black and Non-Black Children: Results of the Bone Mineral Density in Childhood Study

(2011) Babette S. Zemel et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Low-density lipoprotein receptor-related protein 5 (LRP5) variation in fracture prone children

(2010) Anne Saarinen et al.   BONE

Genotype–phenotype correlations in nonlethal osteogenesis imperfecta caused by mutations in the helical domain of collagen type I

(2010) Frank Rauch et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

Detection of nonneutral substitution rates on mammalian phylogenies

(2009) K. S. Pollard et al.   GENOME RESEARCH

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

(2009) Prateek Kumar et al.   Nature Protocols

Fracture Prediction and the Definition of Osteoporosis in Children and Adolescents: The ISCD 2007 Pediatric Official Positions

(2008) Frank Rauch et al.   JOURNAL OF CLINICAL DENSITOMETRY