Advances in the Classification and Treatment of Osteogenesis Imperfecta

Cole-Carpenter Syndrome Is Caused by a Heterozygous Missense Mutation in P4HB

(2015) Frank Rauch et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutations in SEC24D, Encoding a Component of the COPII Machinery, Cause a Syndromic Form of Osteogenesis Imperfecta

(2015) Lutz Garbes et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Osteogenesis imperfecta: Clinical diagnosis, nomenclature and severity assessment

(2014) F.S. Van Dijk et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Evaluation of teriparatide treatment in adults with osteogenesis imperfecta

(2014) Eric S. Orwoll et al.   JOURNAL OF CLINICAL INVESTIGATION

Excessive transforming growth factor-β signaling is a common mechanism in osteogenesis imperfecta

(2014) Ingo Grafe et al.   NATURE MEDICINE

Update on the Evaluation and Treatment of Osteogenesis Imperfecta

(2014) Jennifer Harrington et al.   PEDIATRIC CLINICS OF NORTH AMERICA

Phenotypic Variability of Osteogenesis Imperfecta Type V Caused by anIFITM5Mutation

(2013) Jay R Shapiro et al.   JOURNAL OF BONE AND MINERAL RESEARCH

New Genes in Bone Development: What's New in Osteogenesis Imperfecta

(2013) Joan C. Marini et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Fractures at Diagnosis in Infants and Children With Osteogenesis Imperfecta

(2013) Christopher S. Greeley et al.   JOURNAL OF PEDIATRIC ORTHOPAEDICS

Risedronate in children with osteogenesis imperfecta: a randomised, double-blind, placebo-controlled trial

(2013) Nick Bishop et al.   LANCET

Analysis of skeletal dysplasias in the Utah population

(2012) David A. Stevenson et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Transplanted bone marrow mononuclear cells and MSCs impart clinical benefit to children with osteogenesis imperfecta through different mechanisms

(2012) S. Otsuru et al.   BLOOD

Mutations in PLOD2 cause autosomal-recessive connective tissue disorders within the Bruck syndrome-Osteogenesis imperfecta phenotypic spectrum

(2012) Maria Trinidad Puig-Hervás et al.   HUMAN MUTATION

Otopathology in Osteogenesis Imperfecta

(2012) Felipe Santos et al.   OTOLOGY & NEUROTOLOGY

Rib Cage Deformities Alter Respiratory Muscle Action and Chest Wall Function in Patients with Severe Osteogenesis Imperfecta

(2012) Antonella LoMauro et al.   PLoS One

Nosology and classification of genetic skeletal disorders: 2010 revision

(2011) Matthew L. Warman et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Comparable outcomes in fracture reduction and bone properties with RANKL inhibition and alendronate treatment in a mouse model of osteogenesis imperfecta

(2011) R. Bargman et al.   OSTEOPOROSIS INTERNATIONAL

Mutations in the Gene Encoding the RER Protein FKBP65 Cause Autosomal-Recessive Osteogenesis Imperfecta

(2010) Yasemin Alanay et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Wormian bones in osteogenesis imperfecta: Correlation to clinical findings and genotype

(2010) Oliver Semler et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Bone Mineral Density and Fracture Rate in Response to Intravenous and Oral Bisphosphonates in Adult Osteogenesis Imperfecta

(2010) Jay R. Shapiro et al.   CALCIFIED TISSUE INTERNATIONAL

GH in combination with bisphosphonate treatment in osteogenesis imperfecta

(2010) Franco Antoniazzi et al.   EUROPEAN JOURNAL OF ENDOCRINOLOGY

Valvular Heart Disease in Osteogenesis Imperfecta: Presentation of a Case and Review of the Literature

(2009) Raphael E. Bonita et al.   ECHOCARDIOGRAPHY-A JOURNAL OF CARDIOVASCULAR ULTRASOUND AND ALLIED TECHNIQUES

Novel quantitative trait loci for central corneal thickness identified by candidate gene analysis of osteogenesis imperfecta genes

(2009) David P. Dimasi et al.   HUMAN GENETICS

Mutation and polymorphism spectrum in osteogenesis imperfecta type II: implications for genotype–phenotype relationships

(2008) Dale L. Bodian et al.   HUMAN MOLECULAR GENETICS