Associated Papers
Prenatal genetic detection in foetus with gallbladder size anomalies: cohort study and systematic review of the literature.
Zeng Y et al.
Annals of Medicine, 2025
Expanded noninvasive prenatal screening for dominant single-gene disorders: proof-of-concept, performance, and challenges.
Chen S et al.
American Journal of Obstetrics and Gynecology, 2025
Exome sequencing and prenatal skeletal abnormalities: comprehensive review and meta-analysis and way forward.
Jiang M et al.
Frontiers in Genetics, 2025
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
Exome sequencing in fetuses with short long bones detected by ultrasonography: A retrospective cohort study.
Huang Y et al.
Frontiers in Genetics, 2023
Genetic spectrum of prenatally diagnosed skeletal dysplasias in a Finnish patient cohort.
Rajala K et al.
Prenatal Diagnosis, 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
Osteogenesis Imperfecta: Search for Mutations in Patients from the Republic of Bashkortostan (Russia).
Nadyrshina D et al.
Genes, 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
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
Non-invasive prenatal sequencing for multiple Mendelian monogenic disorders using circulating cell-free fetal DNA.
Zhang J et al.
Nature Medicine, 2019
Osteogenesis Imperfecta Due to Combined Heterozygous Mutations in Both COL1A1 and COL1A2, Coexisting With Pituitary Stalk Interruption Syndrome.
Wang D et al.
Frontiers in Endocrinology, 2019
COL1A1/2 Pathogenic Variants and Phenotype Characteristics in Ukrainian Osteogenesis Imperfecta Patients.
Zhytnik L et al.
Frontiers in Genetics, 2019
Genetic analysis of osteogenesis imperfecta in the Palestinian population: molecular screening of 49 affected families.
Essawi O et al.
Molecular Genetics & Genomic Medicine, 2018
Mutation analysis of the COL1A1 and COL1A2 genes in Vietnamese patients with osteogenesis imperfecta.
Ho Duy B et al.
Human Genomics, 2016
Mutations in patients with osteogenesis imperfecta from consanguineous Indian families.
Stephen J et al.
European Journal of Medical Genetics, 2015
Mutational spectrum of type I collagen genes in Korean patients with osteogenesis imperfecta.
Lee KS et al.
Human Mutation, 2006
Lack of correlation between the type of COL1A1 or COL1A2 mutation and hearing loss in osteogenesis imperfecta patients.
Hartikka H et al.
Human Mutation, 2004