Phenotypic spectrum and molecular basis in a Chinese cohort of osteogenesis imperfecta with mutations in type I collagen
P Chen, Z Tan, HT Shek, J Zhang, Y Zhou, S Yin… - Frontiers in …, 2022 - frontiersin.org
Osteogenesis imperfecta (OI) is a rare inherited connective tissue dysplasia characterized
with skeletal fragility, recurrent fractures and bone deformity, predominantly caused by …
with skeletal fragility, recurrent fractures and bone deformity, predominantly caused by …
Unequal Impact of COL1A1 and COL1A2 Variants on Dentinogenesis Imperfecta
PM Yamaguti, M de La Dure-Molla… - Journal of Dental …, 2023 - journals.sagepub.com
Dentinogenesis imperfecta (DI) is the main orodental manifestation of osteogenesis
imperfecta (OI) caused by COL1A1 or COL1A2 heterozygous pathogenic variants. Its …
imperfecta (OI) caused by COL1A1 or COL1A2 heterozygous pathogenic variants. Its …
Intracranial aneurysm as a possible complication of osteogenesis imperfecta: a case series and literature review
M Matsushiro, D Harada, K Ueyama, H Kashiwagi… - Endocrine …, 2023 - jstage.jst.go.jp
Osteogenesis imperfecta (OI) is an inherited disease characterized by bone fragility due to
impaired type I collagen. Although orthopedic management is improving, other …
impaired type I collagen. Although orthopedic management is improving, other …
Comparing Clinical and Genetic Characteristics of De Novo and Inherited COL1A1/COL1A2 Variants in a Large Chinese Cohort of Osteogenesis Imperfecta
Y Mei, H Zhang, Z Zhang - Frontiers in Endocrinology, 2022 - frontiersin.org
Purpose Nearly 85%-90% of osteogenesis imperfecta (OI) cases are caused by autosome
dominant mutations of COL1A1 and COL1A2 genes, of which de novo mutations cover a …
dominant mutations of COL1A1 and COL1A2 genes, of which de novo mutations cover a …
Prenatal Cases Reflect the Complexity of the COL1A1/2 Associated Osteogenesis Imperfecta
K Yang, Y Liu, J Wu, J Zhang, H Hu, Y Yan, W Chen… - Genes, 2022 - mdpi.com
Introduction: Osteogenesis imperfecta (OI) is a rare mendelian skeletal dysplasia with
autosomal dominant or recessive inheritance pattern, and almost the most common primary …
autosomal dominant or recessive inheritance pattern, and almost the most common primary …
Exome Sequencing for the Diagnostics of Osteogenesis Imperfecta in Six Russian Patients
YS Koshevaya, ME Turkunova, AO Vechkasova… - Current Issues in …, 2024 - mdpi.com
Osteogenesis imperfecta (OI) is a group of inherited disorders of connective tissue that
cause significant deformities and fragility in bones. Most cases of OI are associated with …
cause significant deformities and fragility in bones. Most cases of OI are associated with …