Associated Papers
Assessment of Collagen and Fibroblast Properties via Label-Free Higher Harmonic Generation Microscopy in Three-Dimensional Models of Osteogenesis Imperfecta and Ehlers-Danlos Syndrome.
Ma Y et al.
International Journal of Molecular Sciences, 2025
COL1-related overlap disorder: An emerging phenotype linked to mono- and bi-allelic COL1A1/2 variants.
Hassib NF et al.
Archives of Oral Biology, 2025
Intersecting Pathologies: COL1A1-Related Syndrome in the Setting of Childhood-Onset Hypopituitarism: Case Report and Literature Review.
Pelineagră OE et al.
Diagnostics (basel, Switzerland), 2025
Registry-Based Frequency of Molecularly Confirmed Osteogenesis Imperfecta in a Swiss Cohort of Individuals With Connective Tissue Disorders.
Abegglen O et al.
American Journal of Medical Genetics. Part A, 2025
Exome sequencing and prenatal skeletal abnormalities: comprehensive review and meta-analysis and way forward.
Jiang M et al.
Frontiers in Genetics, 2025
A De novo Mutation in the COL1A1 Gene Leading to Severe Osteogenesis Imperfecta: Case Report and Review of the Literature.
Lu Y et al.
Ajp Reports, 2024
Prenatal ultrasound findings and prenatal diagnosis of fetal skeletal dysplasia.
Li L et al.
Journal of Clinical Ultrasound : Jcu, 2024
Engineering of a high-fidelity Cas12a nuclease variant capable of allele-specific editing.
Wei J et al.
Plos Biology, 2024
In Vitro Modelling of Osteogenesis Imperfecta with Patient-Derived Induced Mesenchymal Stem Cells.
Claeys L et al.
International Journal of Molecular Sciences, 2024
Association of Antenatal Evaluations with Postmortem and Genetic Findings in the Series of Fetal Osteogenesis Imperfecta.
Senturk L et al.
Fetal Diagnosis and Therapy, 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
Prenatal whole-exome sequencing for fetal structural anomalies: a retrospective analysis of 145 Chinese cases.
Qin Y et al.
Bmc Medical Genomics, 2023
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
Genetic analysis of osteogenesis imperfecta in a large Brazilian cohort.
Holtz AP et al.
Bone, 2023
NGS analysis of collagen type I genes in Polish patients with Osteogenesis imperfecta: a nationwide multicenter study.
Sałacińska K et al.
Frontiers in Endocrinology, 2023
Prenatal Cases Reflect the Complexity of the COL1A1/2 Associated Osteogenesis Imperfecta.
Yang K et al.
Genes, 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
Genotype-phenotype correlations and long-term efficacy of pamidronate therapy in patients with osteogenesis imperfecta.
Choi Y et al.
Annals of Pediatric Endocrinology & Metabolism, 2022
Diagnostic utility of next-generation sequencing-based panel testing in 543 patients with suspected skeletal dysplasia.
Scocchia A et al.
Orphanet Journal of Rare Diseases, 2021
Prenatal diagnosis of fetal skeletal dysplasia using targeted next-generation sequencing: an analysis of 30 cases.
Liu Y et al.
Diagnostic Pathology, 2019
Genotype-phenotype correlation study in 364 osteogenesis imperfecta Italian patients.
Maioli M et al.
European Journal of Human Genetics : Ejhg, 2019
A comprehensive assessment of Next-Generation Sequencing variants validation using a secondary technology.
Zheng J et al.
Molecular Genetics & Genomic Medicine, 2019
Non-invasive prenatal sequencing for multiple Mendelian monogenic disorders using circulating cell-free fetal DNA.
Zhang J et al.
Nature Medicine, 2019
Genotype-phenotype relationship in a large cohort of osteogenesis imperfecta patients with COL1A1 mutations revealed by a new scoring system.
Li LJ et al.
Chinese Medical Journal, 2019
Tooth agenesis in osteogenesis imperfecta related to mutations in the collagen type I genes.
Malmgren B et al.
Oral Diseases, 2017
Molecular diagnosis of hypophosphatasia and differential diagnosis by targeted Next Generation Sequencing.
Taillandier A et al.
Molecular Genetics and Metabolism, 2015
Mutation spectrum of COL1A1 and COL1A2 genes in Indian patients with osteogenesis imperfecta.
Stephen J et al.
American Journal of Medical Genetics. Part A, 2014
The severity of Osteogenesis imperfecta and type I collagen pattern in human skin as determined by nonlinear microscopy: proof of principle of a diagnostic method.
Adur J et al.
Plos One, 2013
Validation of a quantitative PCR-high-resolution melting protocol for simultaneous screening of COL1A1 and COL1A2 point mutations and large rearrangements: application for diagnosis of osteogenesis imperfecta.
Gentile FV et al.
Human Mutation, 2012
A systematic review of genetic skeletal disorders reported in Chinese biomedical journals between 1978 and 2012.
Cui Y et al.
Orphanet Journal of Rare Diseases, 2012
A G560S mutation in alpha1 (I) collagen causes familial osteogenesis imperfecta type IV.
Cui YX et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2009
Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.
Ryu GM et al.
Nucleic Acids Research, 2009
[Association analysis on the polymorphisms of PCOL2 and Sp1 binding sites of COL1A1 gene and the congenital dislocation of the hip in Chinese population].
Jiang J et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2005