Associated Papers
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
Genotype-phenotype relationship and comparison between eastern and western patients with osteogenesis imperfecta.
Lin X et al.
Journal of Endocrinological Investigation, 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
Unequal Impact of COL1A1 and COL1A2 Variants on Dentinogenesis Imperfecta.
Yamaguti PM et al.
Journal of Dental Research, 2023
Expanding the genetic and clinical spectrum of osteogenesis imperfecta: identification of novel rare pathogenic variants in type I collagen-encoding genes.
Paduano F et al.
Frontiers in Endocrinology, 2023
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
Comparing Clinical and Genetic Characteristics of De Novo and Inherited COL1A1/COL1A2 Variants in a Large Chinese Cohort of Osteogenesis Imperfecta.
Mei Y et al.
Frontiers in Endocrinology, 2022
Tooth ultrastructure of a novel COL1A2 mutation expanding its genotypic and phenotypic spectra.
Intarak N et al.
Oral Diseases, 2021
Non-Syndromic Dentinogenesis Imperfecta Caused by Mild Mutations in COL1A2.
Lee Y et al.
Journal of Personalized Medicine, 2021
Clinical and genetic analysis in 185 Chinese probands of osteogenesis imperfecta.
Xi L et al.
Journal of Bone and Mineral Metabolism, 2021
The Added Value of Whole-Exome Sequencing for Anomalous Fetuses With Detailed Prenatal Ultrasound and Postnatal Phenotype.
He M et al.
Frontiers in Genetics, 2021
Genetics Evaluation of Targeted Exome Sequencing in 223 Chinese Probands With Genetic Skeletal Dysplasias.
Lv S et al.
Frontiers in Cell and Developmental Biology, 2021
Inter- and Intrafamilial Phenotypic Variability in Individuals with Collagen-Related Osteogenesis Imperfecta.
Zhytnik L et al.
Clinical and Translational Science, 2020
Rapid whole exome sequencing in pregnancies to identify the underlying genetic cause in fetuses with congenital anomalies detected by ultrasound imaging.
Deden C et al.
Prenatal Diagnosis, 2020
A family with homozygous and heterozygous p.Gly337Ser mutations in COL1A2.
Udomchaiprasertkul W et al.
European Journal of Medical Genetics, 2020
COL1A1/2 Pathogenic Variants and Phenotype Characteristics in Ukrainian Osteogenesis Imperfecta Patients.
Zhytnik L et al.
Frontiers in Genetics, 2019
Confirmation of the pathogenicity of a mutation p.G337C in the COL1A2 gene associated with osteogenesis imperfecta.
Jia M et al.
Medicine, 2017
Mutational analysis of COL1A1 and COL1A2 genes among Estonian osteogenesis imperfecta patients.
Zhytnik L et al.
Human Genomics, 2017
Molecular spectrum and differential diagnosis in patients referred with sporadic or autosomal recessive osteogenesis imperfecta.
Caparros-Martin JA et al.
Molecular Genetics & Genomic Medicine, 2017
Clinical characteristics and the identification of novel mutations of COL1A1 and COL1A2 in 61 Chinese patients with osteogenesis imperfecta.
Zhang H et al.
Molecular Medicine Reports, 2016
Mutation analysis of the COL1A1 and COL1A2 genes in Vietnamese patients with osteogenesis imperfecta.
Ho Duy B et al.
Human Genomics, 2016
Whole exome sequencing is an efficient, sensitive and specific method of mutation detection in osteogenesis imperfecta and Marfan syndrome.
McInerney-Leo AM et al.
Bonekey Reports, 2013
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
Osteogenesis Imperfecta: the audiological phenotype lacks correlation with the genotype.
Swinnen FK et al.
Orphanet Journal of Rare Diseases, 2011
Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.
Ryu GM et al.
Nucleic Acids Research, 2009
Biochemical screening of type I collagen in osteogenesis imperfecta: detection of glycine substitutions in the amino end of the alpha chains requires supplementation by molecular analysis.
Cabral WA et al.
Journal of Medical Genetics, 2006