Associated Papers
Pathogenic variation underlying rare diseases in an Arab population: Implications for screening programs.
Jain R et al.
Genetics in Medicine Open, 2025
40893834 (PubMed )
Supplement: mmc1.xlsx › Supplementary_Table_1
Clinical spectrum of rare bone fragility disorders and response to bisphosphonate treatment: a retrospective study.
Charpié M et al.
European Journal of Human Genetics : Ejhg, 2024
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
35765008 (PubMed )
Supplement: 13023_2022_2394_MOESM3_ESM.pdf
Antagonism Between PEDF and TGF-β Contributes to Type VI Osteogenesis Imperfecta Bone and Vascular Pathogenesis.
Kang H et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 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
Genotypic and Phenotypic Analysis in Chinese Cohort With Autosomal Recessive Osteogenesis Imperfecta.
Li S et al.
Frontiers in Genetics, 2020
Novel Mutations in SERPINF1 Result in Rare Osteogenesis Imperfecta Type VI.
Wang JY et al.
Calcified Tissue International, 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
Novel Deletion of SERPINF1 Causes Autosomal Recessive Osteogenesis Imperfecta Type VI in Two Brazilian Families.
Minillo RM et al.
Molecular Syndromology, 2014
Normal bone density and fat mass in heterozygous SERPINF1 mutation carriers.
Al-Jallad H et al.
The Journal of Clinical Endocrinology and Metabolism, 2014
Targeted sequencing of a pediatric metabolic bone gene panel using a desktop semiconductor next-generation sequencer.
Rauch F et al.
Calcified Tissue International, 2014
A co-occurrence of osteogenesis imperfecta type VI and cystinosis.
Tucker T et al.
American Journal of Medical Genetics. Part A, 2012
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