Latest
Publications
Developing a standard dataset in the European registries for rare endocrine and bone conditions – a Melorheostosis dataset
We are pleased to share the publication of a new EuRREB article: “Developing a standard dataset in the European registries for rare endocrine and bone conditions – a Melorheostosis dataset”, now available in the Orphanet Journal...
Developing a Standardised Dataset for Natural History Studies in Fibrous Dysplasia/McCune-Albright Syndrome
Ana Luisa Priego Zurita, Oana O. Bulaicon, Jillian Bryce, Nerea Arrieta, Magdalena Caballero Campos, Mariya Cherenko, Gaby Doxiadis, Corinna Grasemann, M. Kassim Javaid, Helen McDevitt, Stijn W. van der Meeren, Diana Ovejero Crespo, Luisa de Sanctis, Lothar Seefried, Annemarie A. Verrijn Stuart, Daniele Tessaris, Pieter Bas de Witte, Roland Chapurlat, S. Faisal Ahmed & Natasha M. Appelman-Dijkstra (Calcified Tissue Int., doi 10.1007/s00223-025-01379-5)
Venous thromboembolism in Cushing syndrome: results from an EuRRECa and Endo-ERN survey
Cherenko M, Appelman-Dijkstra NM, Priego-Zurita AL, Biermasz NR, Dekkers O, Klok F, … Pereira AM.(Endocrine Connections., doi:10.1530/ec-24-0046.)
The Role of the European Reference Network for Rare Bone Diseases (ERN BOND) and European Registries for Rare Bone and Mineral Conditions (EuRR-Bone) in the Governance of the Management of Rare Bone and Mineral Diseases
Priego Zurita AL, Boarini M, Casareto L, Cherenko M, Mordenti M, Moroni A, … Sangiorgi L.(Calcif Tissue Int., doi:10.1007/s00223-024-01256-7.)
Outcome of COVID-19 infections in patients with adrenal insufficiency and excess
Nowotny HF, Bryce J, Ali SR, Giordano R, Baronio F, Chifu I, … Reisch N.(Endocrine Connections., v12.4.)
Development of a pediatric differentiated thyroid carcinoma registry within the EuRRECa project: rationale and protocol
Clement SC, Visser WE, Lebbink CA, Albano D, Claahsen-van der Grinten HL, Czarniecka A, … van Santen HM.(Endocrine Connections., v12.3.)
Electronic reporting of rare endocrine conditions within a clinical network: results from the EuRRECa project
Ali SR, Bryce J, Priego-Zurita AL, Cherenko M, Smythe C, de Rooij TM, … Ahmed SF.(Endocrine Connections., v12.12.)
Data collection on rare bone and mineral conditions in Europe: The landscape of registries and databases
Priego Zurita AL, Grasemann C, Boarini M, Chapurlat R, Mordenti M, Javaid MK, & Appelman-Dijkstra NM.(European Journal of Medical Genetics., v66.12 p104868.)
Prenatal dexamethasone treatment for classic 21-hydroxylase deficiency in Europe
Nowotny H, Neumann U, Tardy-Guidollet V, Ahmed SF, Baronio F, Battelino T, … Reisch N.(European Journal of Endocrinology., v186.5 pK17-K24.)
The European registry for rare bone and mineral conditions (EuRR-Bone): results of a survey on osteogenesis imperfecta and fibrous dysplasia McCune-Albright syndrome
Zurita ALP, Danila OO, Allgrove J, Brandi ML, Bryce J, Chapurlat R, … Appelman-Dijkstra N.(Bone Reports., v16 p101297.)
Meeting Report from 2nd ICCBH-ERN BOND Spinal Complications in Children and Adults with Achondroplasia Workshop, Dublin, Ireland, 2nd July 2022
Cheung MS & Mohnike K.(Bone., v165 p116574.)
Design and development of a European registry for parathyroid carcinoma cases within the scope of the European Registries for Rare Endocrine Conditions (EuRRECa)
Marini F, Giusti F, Appelman-Dijkstra N, Cherenko M, Iacobone M, Rejnmark L, … Brandi ML.(International Journal of Bone Fragility., v2.3 p112-114.)
New cases of rare bone and mineral conditions reported within the first 18 months of the European registry for rare bone and mineral conditions
Zurita ALP, Bryce J, Alves I, Boarini M, Grasemann C, Högler W, … Appelman-Dijkstra N.(Bone Reports., v16 p101510.)
Supporting international networks through platforms for standardised data collection—the European Registries for Rare Endocrine Conditions (EuRRECa) model
Ali SR, Bryce J, Smythe C, Hytiris M, Priego AL, Appelman-Dijkstra NM, & Ahmed SF.(Endocrine., v71.3 p555-560.)
The Quality Evaluation of Rare Disease Registries—An Assessment of the Essential Features of a Disease Registry
Ali SR, Bryce J, Kodra Y, Taruscio D, Persani L, & Ahmed SF.(IJERPH., v18.22 p11968.)
Society for Endocrinology UK Guidance on the initial evaluation of a suspected difference or disorder of sex development (Revised 2021)
Ahmed SF, Achermann J, Alderson J, Crouch NS, Elford S, Hughes IA, … Turner HE.(Clinical Endocrinology., v95.6 p818-840.)
Patients’ priorities and expectations on an EU registry for rare bone and mineral conditions
Javaid MK, Mordenti M, Boarini M, Sangiorgi L, Westerheim I, Alves I, … Grasemann C, ERN BOND Working Group.(Orphanet J Rare Dis., v16.1.)
An overview of clinical activities in Endo-ERN: the need for alignment of future network criteria
de Vries F, Bruin M, Cersosimo A, van Beuzekom CN, Ahmed SF, Peeters RP, … Pereira AM.(European Journal of Endocrinology., v183.2 p141-148.)
The EuRRECa Project as a Model for Data Access and Governance Policies for Rare Disease Registries That Collect Clinical Outcomes
Ali SR, Bryce J, Tan LE, Hiort O, Pereira AM, van den Akker ELT, … Ahmed SF.(IJERPH., v17.23 p8743.)
The current landscape of European registries for rare endocrine conditions
Ali SR, Bryce J, Cools M, Korbonits M, Beun JG, Taruscio D, … _ _.(European Journal of Endocrinology., v180.1 p89-98.)
Recommendations for Improving the Quality of Rare Disease Registries
Kodra Y, Weinbach J, Posada-de-la-Paz M, Coi A, Lemonnier S, van Enckevort D, … Taruscio D.(IJERPH., v15.8 p1644.)