Associated Papers
Impaired SERPINF1 Expression due to c.[-37C>A];[829_831del] Causes Osteogenesis Imperfecta VI.
Badiger VA et al.
American Journal of Medical Genetics. Part A, 2025
Diagnostic yield of expanded carrier screening of a multi-ethnic population in yunnan, China.
Wang H et al.
Scientific Reports, 2025
Molecular and Clinical Aspects of Osteogenesis Imperfecta Type VI: A Case Series with Novel SERPINF1 Gene Variants.
Merkuryeva ES et al.
International Journal of Molecular Sciences, 2025
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
Burden of rare genetic disorders in India: twenty-two years' experience of a tertiary centre.
Sheth J et al.
Orphanet Journal of Rare Diseases, 2024
SERPINF1 gene variants causing late-onset progressive deforming osteogenesis imperfecta - A study of 18 patients from India.
Selina A et al.
Bone Reports, 2023
Long-term follow-up in osteogenesis imperfecta type VI.
Trejo P 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, 2017
Osteogenesis imperfecta: new genes reveal novel mechanisms in bone dysplasia.
Kang H et al.
Translational Research : the Journal of Laboratory and Clinical Medicine, 2017
Novel Mutations in SERPINF1 Result in Rare Osteogenesis Imperfecta Type VI.
Wang JY et al.
Calcified Tissue International, 2017
The effect of SERPINF1 in-frame mutations in osteogenesis imperfecta type VI.
Al-Jallad H et al.
Bone, 2015
Mutations in patients with osteogenesis imperfecta from consanguineous Indian families.
Stephen J et al.
European Journal of Medical Genetics, 2015
Normal bone density and fat mass in heterozygous SERPINF1 mutation carriers.
Al-Jallad H et al.
The Journal of Clinical Endocrinology and Metabolism, 2014