A web-based collection of genotype-phenotype associations in hereditary recurrent fevers from the Eurofever registry

6533b7dafe1ef96bd126f5e4

RESEARCH PRODUCT

A web-based collection of genotype-phenotype associations in hereditary recurrent fevers from the Eurofever registry

Riccardo Papa Matteo Doglio Helen J. Lachmann Seza Ozen Joost Frenkel Anna Simon Bénédicte Neven Jasmin Kuemmerle-deschner Huri Ozgodan Roberta Caorsi Silvia Federici Martina Finetti Maria Trachana Jurgen Brunner Liliana Bezrodnik Mari Carmen Pinedo Gago Maria Cristina Maggio Elena Tsitsami Wafaa Al Suwairi Graciela Espada Anna Shcherbina Guzide Aksu Nicolino Ruperto Alberto Martini Isabella Ceccherini Marco Gattorno For The Paediatric Rheumatology International Trials Organisation (Printo) And The Eurofever Project

subject

lcsh:Medicine Familial Mediterranean fever Caps; Eurofever; FMF; Genotype-phenotype associations; Hereditary recurrent fevers; Infevers; MKD; Traps; Databases Genetic; Europe; Hereditary Autoinflammatory Diseases; Humans; Retrospective Studies; Genetic Association Studies; Registries 0302 clinical medicine Hereditary recurrent fever Infevers Databases Genetic Pharmacology (medical)030212 general & internal medicine Registries Genetics (clinical)Eurofever General Medicine MEFV Response to treatment Cap Hereditary recurrent fevers 3. Good health Genotype-phenotype association Trap Europe ComputingMilieux_MANAGEMENTOFCOMPUTINGANDINFORMATIONSYSTEMS InformationSystems_MISCELLANEOUS Inflammatory diseases Radboud Institute for Molecular Life Sciences [Radboudumc 5]medicine.medical_specialty Genotype-Phenotype Association Infever 03 medical and health sciences Databases FMF Genetic Internal medicine Journal Article medicine Humans Hereditary Recurrent Fevers In patient MKD Traps Genetic Association Studies Retrospective Studies 030203 arthritis & rheumatology Genotype-phenotype associations business.industry Research lcsh:R ComputerSystemsOrganization_COMPUTER-COMMUNICATIONNETWORKS Hereditary Autoinflammatory Diseases Retrospective cohort study medicine.disease Human genetics ComputingMethodologies_PATTERNRECOGNITION Caps business Caps; Eurofever; FMF; Genotype-phenotype associations; Hereditary recurrent fevers; Infevers; MKD; Traps; Genetics (clinical); Pharmacology (medical)

description

PubMed ID: 29047407

year	journal	country	edition	language
2017-10-01

10.1186/s13023-017-0720-3 http://hdl.handle.net/11567/965140

PEPhysical Sciences and Engineering
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- PE1Mathematics
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