Associated Papers
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
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
35044492 (PubMed )
Supplement: 198_2021_6263_MOESM3_ESM.xlsx › COL1A2_HGMD_data
Tooth agenesis in osteogenesis imperfecta related to mutations in the collagen type I genes.
Malmgren B et al.
Oral Diseases, 2017
Stem cell transplantation before birth - a realistic option for treatment of osteogenesis imperfecta?
Westgren M et al.
Prenatal Diagnosis, 2015
Pre- and postnatal transplantation of fetal mesenchymal stem cells in osteogenesis imperfecta: a two-center experience.
Götherström C et al.
Stem Cells Translational Medicine, 2014
Mutation analysis of COL1A1 and COL1A2 in patients diagnosed with osteogenesis imperfecta type I-IV.
Pollitt R et al.
Human Mutation, 2006
Ehlers-Danlos syndrome type IV with few extrathoracic findings: a newly recognized point mutation in the COL3A1 gene.
Watanabe A et al.
The European Respiratory Journal, 2002
Single-strand conformation polymorphism (SSCP) analysis of the COL3A1 gene detects a mutation that results in the substitution of glycine 1009 to valine and causes severe Ehlers-Danlos syndrome type IV.
Nuytinck L et al.
Human Mutation, 1994
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