Associated Papers
Clinical Characteristics and Management of Rare Metabolic Bone Diseases: An Audit of the Rare Metabolic Bone Disease Registry of India.
Sangar M et al.
Calcified Tissue International, 2025
Phenotypic Variability in Camurati-Engelmann Disease: A Case Report of a Family with the c.653G>A Pathogenic Variant in the TGFB1 Gene.
Campos T et al.
Genes, 2024
Systematic review of reported association studies of monogenic genes and bladder cancer risk and confirmation analysis in a large population cohort.
Mian A et al.
Bjui Compass, 2023
Clinical characteristics and identification of a novel TGFB1 variant in three unrelated Chinese families with Camurati-Engelmann disease.
Tao XH et al.
Molecular Genetics & Genomic Medicine, 2022
Clinical characteristics and the influence of rs1800470 in patients with Camurati-Engelmann disease.
Liang H et al.
Frontiers in Endocrinology, 2022
Diagnostic value of whole-exome sequencing in Chinese pediatric-onset neuromuscular patients.
Tsang MHY et al.
Molecular Genetics & Genomic Medicine, 2020
Observations on the Natural History of Camurati-Engelmann Disease.
Hughes P et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2019
Clinical characteristics and treatment outcomes in Camurati-Engelmann disease: A case series.
Kim YM et al.
Medicine, 2018
Orthopedic Manifestations of Type I Camurati-Engelmann Disease.
Yuldashev AJ et al.
Clinics in Orthopedic Surgery, 2017
Utility of Whole Exome Sequencing for Genetic Diagnosis of Previously Undiagnosed Pediatric Neurology Patients.
Kuperberg M et al.
Journal of Child Neurology, 2016
Mild Camurati‑Engelamann disease presenting with exophthalmos as the first and only manifestation: A case report.
Jiajue R et al.
Molecular Medicine Reports, 2016
Clinical proteome informatics workbench detects pathogenic mutations in hereditary amyloidoses.
Dasari S et al.
Journal of Proteome Research, 2014
Camurati-Engelmann disease (progressive diaphyseal dysplasia): reports of an Indian kindred.
Bhadada SK et al.
Calcified Tissue International, 2014
Transforming growth factor-β1 gene mutations and phenotypes in pediatric patients with Camurati‑Engelmann disease.
Wang C et al.
Molecular Medicine Reports, 2013
Camurati-Engelmann disease: unique variant featuring a novel mutation in TGFβ1 encoding transforming growth factor beta 1 and a missense change in TNFSF11 encoding RANK ligand.
Whyte MP et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2011
The first Korean case of Camurati-Engelmann disease (progressive diaphyseal dysplasia) confirmed by TGFB1 gene mutation analysis.
Park SJ et al.
Journal of Korean Medical Science, 2009
Painful lower extremities related to diaphyseal dysplasia: genetic diagnosis and treatment.
Ribeiro SL et al.
The Journal of Rheumatology, 2009
A novel mutation of TGF beta1 in a Chinese family with Camurati-Engelmann disease.
Wu S et al.
Bone, 2007
The new bone biology: pathologic, molecular, and clinical correlates.
Cohen MM
American Journal of Medical Genetics. Part A, 2006
[A mutation in TGF beta1 gene encoding the latency-associated peptide in a Chinese patient with Camurati-Engelmann disease].
Liang YH et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2006
Camurati-Engelmann disease: review of the clinical, radiological, and molecular data of 24 families and implications for diagnosis and treatment.
Janssens K et al.
Journal of Medical Genetics, 2006
Camurati-Engelmann disease (progressive diaphyseal dysplasia) in a Moroccan family.
Simsek S 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, 2005
Marked phenotypic variability in progressive diaphyseal dysplasia (Camurati-Engelmann disease): report of a four-generation pedigree, identification of a mutation in TGFB1, and review.
Wallace SE et al.
American Journal of Medical Genetics. Part A, 2004
Genetic analysis of the mammalian transforming growth factor-beta superfamily.
Chang H et al.
Endocrine Reviews, 2002
Phenotypic variability at the TGF-beta1 locus in Camurati-Engelmann disease.
Campos-Xavier B et al.
Human Genetics, 2001
Domain-specific mutations of a transforming growth factor (TGF)-beta 1 latency-associated peptide cause Camurati-Engelmann disease because of the formation of a constitutively active form of TGF-beta 1.
Saito T et al.
The Journal of Biological Chemistry, 2001