Associated Papers
Diaphragmatic Hernia in a Newborn With COL1A1-Associated Classical Ehlers-Danlos Syndrome.
Anand L et al.
Case Reports in Genetics, 2025
Congenital cortical hyperostosis: a rare cause of inconsolable crying in a baby. Clinical case report.
Braslavsky A et al.
Archivos Argentinos De Pediatria, 2024
Transient Generalized Osteosclerosis in a Newborn Mimicking Congenital Osteopetrosis with Negative Comprehensive Genetic Workup: A Case Report.
Hauck J et al.
Journal of Pediatrics. Clinical Practice, 2024
The IFITM5 Ser40Leu variant can manifest as prenatal Caffey disease.
Yap JYC et al.
American Journal of Medical Genetics. Part A, 2024
Caffey disease is associated with distinct arginine to cysteine substitutions in the proα1(I) chain of type I procollagen.
Dhooge T et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
Whole Genome Sequencing Indicates Heterogeneity of Hyperostotic Disorders in Dogs.
Letko A et al.
Genes, 2020
The Genetic Architecture of High Bone Mass.
Gregson CL et al.
Frontiers in Endocrinology, 2020
Fetuin-A deficiency is associated with infantile cortical hyperostosis (Caffey disease).
Merdler-Rabinowicz R et al.
Pediatric Research, 2019
A Rare Case of Lethal Prenatal-Onset Infantile Cortical Hyperostosis.
Kim ST et al.
Yonsei Medical Journal, 2019
Molecular mechanisms and clinical manifestations of rare genetic disorders associated with type I collagen.
Lu Y et al.
Intractable & Rare Diseases Research, 2019
Expanding the Clinical Spectrum of Osteogenesis Imperfecta Type V: 13 Additional Patients and Review.
Cao YJ et al.
Frontiers in Endocrinology, 2019
Sclerosing bone dysplasias.
Boudin E et al.
Best Practice & Research. Clinical Endocrinology & Metabolism, 2018
From Structure to Phenotype: Impact of Collagen Alterations on Human Health.
Arseni L et al.
International Journal of Molecular Sciences, 2018
Compound heterozygous mutations in COL1A1 associated with an atypical form of type I osteogenesis imperfecta.
Ackermann AM et al.
American Journal of Medical Genetics. Part A, 2017
The Ehlers-Danlos syndromes, rare types.
Brady AF et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2017
Delineation of Ehlers-Danlos syndrome phenotype due to the c.934C>T, p.(Arg312Cys) mutation in COL1A1: Report on a three-generation family without cardiovascular events, and literature review.
Colombi M et al.
American Journal of Medical Genetics. Part A, 2017
Familial mutation in Caffey disease with reduced penetrance: A case report.
Özdemir ÖMA et al.
The Turkish Journal of Pediatrics, 2016
Two Japanese familial cases of Caffey disease with and without the common COL1A1 mutation and normal bone density, and review of the literature.
Kitaoka T et al.
European Journal of Pediatrics, 2014
The Ehlers-Danlos syndrome.
Malfait F et al.
Advances in Experimental Medicine and Biology, 2014
Infantile cortical hyperostosis and COL1A1 mutation in four generations.
Cerruti-Mainardi P et al.
European Journal of Pediatrics, 2011
COL1A1 mutation in an Indian child with Caffey disease.
Ranganath P et al.
Indian Journal of Pediatrics, 2011
New perspectives on osteogenesis imperfecta.
Forlino A et al.
Nature Reviews. Endocrinology, 2011
Prenatal cortical hyperostosis with COL1A1 gene mutation.
Kamoun-Goldrat A et al.
American Journal of Medical Genetics. Part A, 2008
A novel arginine-to-cysteine substitution in the triple helical region of the alpha1(I) collagen chain in a family with an osteogenesis imperfecta/Ehlers-Danlos phenotype.
Lund A et al.
Clinical Genetics, 2008
The c.3040C > T mutation in COL1A1 is recurrent in Korean patients with infantile cortical hyperostosis (Caffey disease).
Cho TJ et al.
Journal of Human Genetics, 2008
Y-position cysteine substitution in type I collagen (alpha1(I) R888C/p.R1066C) is associated with osteogenesis imperfecta/Ehlers-Danlos syndrome phenotype.
Cabral WA et al.
Human Mutation, 2007
Three arginine to cysteine substitutions in the pro-alpha (I)-collagen chain cause Ehlers-Danlos syndrome with a propensity to arterial rupture in early adulthood.
Malfait F et al.
Human Mutation, 2007
Expanding the phenotypic spectrum of Caffey disease.
Suphapeetiporn K et al.
Clinical Genetics, 2007
A novel COL1A1 mutation in infantile cortical hyperostosis (Caffey disease) expands the spectrum of collagen-related disorders.
Gensure RC et al.
The Journal of Clinical Investigation, 2005
Type 1 collagen: Synthesis, structure and key functions in bone mineralization.
Selvaraj V et al.
Differentiation; Research in Biological Diversity, 0