Associated Papers
Utility of whole exome sequencing in the evaluation of isolated fetal growth restriction in normal chromosomal microarray analysis.
Shi X et al.
Annals of Medicine, 2025
Parental Somatic Mosaicism Detected During Prenatal Diagnosis.
Chandler NJ et al.
Prenatal Diagnosis, 2025
Exome sequencing and prenatal skeletal abnormalities: comprehensive review and meta-analysis and way forward.
Jiang M et al.
Frontiers in Genetics, 2025
The genetic landscape and phenotypic spectrum of GAA-FGF14 ataxia in China: a large cohort study.
Ouyang R et al.
Ebiomedicine, 2024
Progress in the pathogenic mechanism, histological characteristics of hereditary dentine disorders and clinical management strategies.
Xue Q et al.
Frontiers in Cell and Developmental Biology, 2024
Scoliosis in osteogenesis imperfecta: identifying the genetic and non-genetic factors affecting severity and progression from longitudinal data of 290 patients.
Chen P et al.
Orphanet Journal of Rare Diseases, 2023
Exome sequencing in fetuses with short long bones detected by ultrasonography: A retrospective cohort study.
Huang Y et al.
Frontiers in Genetics, 2023
Patient-reported outcomes in a Chinese cohort of osteogenesis imperfecta unveil psycho-physical stratifications associated with clinical manifestations.
Chen P et al.
Orphanet Journal of Rare Diseases, 2022
Clinical severity prediction in children with osteogenesis imperfecta caused by COL1A1/2 defects.
Yang L et al.
Osteoporosis International : a Journal Established as Result of Cooperation Between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the Usa, 2022
Phenotypic Spectrum and Molecular Basis in a Chinese Cohort of Osteogenesis Imperfecta With Mutations in Type I Collagen.
Chen P et al.
Frontiers in Genetics, 2022
Mutational Screening of Skeletal Genes in 14 Chinese Children with Osteogenesis Imperfecta Using Targeted Sequencing.
Tan W et al.
Journal of Immunology Research, 2022
Targeted High-Throughput Sequencing Analysis Results of Osteogenesis Imperfecta Patients from Different Regions of Turkey.
Demir S et al.
Genetic Testing and Molecular Biomarkers, 2021
Genetic Analysis Using a Next Generation Sequencing-Based Gene Panel in Patients With Skeletal Dysplasia: A Single-Center Experience.
Kim SJ et al.
Frontiers in Genetics, 2021
Rapid prenatal diagnosis of skeletal dysplasia using medical trio exome sequencing: Benefit for prenatal counseling and pregnancy management.
Han J et al.
Prenatal Diagnosis, 2020
Targeted sequencing of a pediatric metabolic bone gene panel using a desktop semiconductor next-generation sequencer.
Rauch F et al.
Calcified Tissue International, 2014
The identification of novel mutations in COL1A1, COL1A2, and LEPRE1 genes in Chinese patients with osteogenesis imperfecta.
Zhang ZL et al.
Journal of Bone and Mineral Metabolism, 2012
Mutational spectrum of type I collagen genes in Korean patients with osteogenesis imperfecta.
Lee KS et al.
Human Mutation, 2006
Structural models of osteogenesis imperfecta-associated variants in the COL1A1 gene.
Mooney SD et al.
Molecular & Cellular Proteomics : Mcp, 2002
Thirty-three novel COL1A1 and COL1A2 mutations in patients with osteogenesis imperfecta types I-IV.
Ward LM et al.
Human Mutation, 2001
Parental mosaicism and autosomal dominant mutations causing structural abnormalities of collagen I are frequent in families with osteogenesis imperfecta type III/IV.
Lund AM et al.
Acta Paediatrica (oslo, Norway : 1992), 1997