Disease: Osteogenesis imperfecta- type VIII
- A Founder Intronic Variant in <em>P3H1</em> Likely Results in Aberrant Splicing and Protein Truncation in Patients of Karen Descent with Osteogenesis Imperfecta Type VIII
- A Founder Intronic Variant in P3H1 Likely Results in Aberrant Splicing and Protein Truncation in Patients of Karen Descent with Osteogenesis Imperfecta Type VIII
- A moderate form of osteogenesis imperfecta caused by compound heterozygous <em>LEPRE1</em> mutations
- A moderate form of osteogenesis imperfecta caused by compound heterozygous LEPRE1 mutations
- A new case of osteogenesis imperfecta type VIII and retinal detachment
- A novel P3H1 mutation is associated with osteogenesis imperfecta type VIII and dental anomalies
- Anesthetic considerations for scoliosis surgery in a patient with recessive severe/lethal form of osteogenesis imperfecta
- Bilateral giant retinal tears in Osteogenesis Imperfecta
- Cellular stress due to impairment of collagen prolyl hydroxylation complex is rescued by the chaperone 4-phenylbutyrate
- Classification of Osteogenesis Imperfecta revisited
- Cytoskeleton and nuclear lamina affection in recessive osteogenesis imperfecta: A functional proteomics perspective
- Effects of bisphosphonates in children with osteogenesis imperfecta: an AACPDM systematic review
- Haemostatic studies in osteogenesis imperfecta
- Midterm Outcomes of Multimodal Approach to Treating Severe Scoliosis in Patients With Osteogenesis Imperfecta
- Milder presentation of osteogenesis imperfecta type VIII due to compound heterozygosity for a predicted loss-of-function variant and novel missense variant in <em>P3H1</em>-further expansion of the phenotypic spectrum
- Milder presentation of osteogenesis imperfecta type VIII due to compound heterozygosity for a predicted loss-of-function variant and novel missense variant in P3H1-further expansion of the phenotypic spectrum
- Next-generation sequencing of common osteogenesis imperfecta-related genes in clinical practice
- Non-Lethal Type VIII Osteogenesis Imperfecta Has Elevated Bone Matrix Mineralization
- Osteogenesis imperfecta and achievements in cell and gene therapy
- Osteogenesis imperfecta due to compound heterozygosity for the LEPRE1 gene
- Osteogenesis imperfecta type VIII: Association with increased nuchal translucency and prenatal diagnosis by targeted exome sequencing
- Osteogenesis imperfecta type VIII: highlighting the need for genetic testing
- Popcorn calcification in osteogenesis imperfecta: incidence, progression, and molecular correlation
- Prolyl 3-hydroxylase 1 and CRTAP are mutually stabilizing in the endoplasmic reticulum collagen prolyl 3-hydroxylation complex
- Scoliosis and Cardiopulmonary Outcomes in Osteogenesis Imperfecta Patients
- Severe cases of osteogenesis imperfecta type VIII due to a homozygous mutation in P3H1 (LEPRE1) and review of the literature
- Skeletal dysplasias
- Substitution of murine type I collagen A1 3-hydroxylation site alters matrix structure but does not recapitulate osteogenesis imperfecta bone dysplasia
- Targeted exome sequencing identifies novel compound heterozygous mutations in P3H1 in a fetus with osteogenesis imperfecta type VIII
- Targeting TGF-beta for treatment of osteogenesis imperfecta
- Targeting TGF-β for treatment of osteogenesis imperfecta
- The differential symptomatology of errors of collagen metabolism: a tentative classification
- Therapy with pamidronate in children with osteogenesis imperfecta
- Use of flexible intramedullary nailing in combination with an external fixator for a postoperative defect and pseudarthrosis of femur in a girl with osteogenesis imperfecta type VIII: a case report