The European rare disease network for HHT frameworks for management of hereditary haemorrhagic telangiectasia in general and speciality careC.L. Shovlin aE. Buscarini bC. Sabbà cH.J. Mager dA.D. Kjeldsen eF. Pagella fU. Sure gS. Ugolini f...
COST Action CA18218 - Integrating and strengthening capacity in burden of disease assessment across Europe and beyond
European network for the case-population surveillance of rare diseases (Euronet). A prospective feasibility study Objective : Euronet, a case-population surveillance scheme, aims to estimate the risk of certain rare conditions which are commonly iatrogenic, by comparin... D Capellà,J.-R. Laporte...
VASCERN, the European Reference Network on Rare Multisystemic Vascular Diseases Edited by Guillaume Jondeau Mikka VIKKULA Robert DAMSTRA Sophie DUPUIS-GIROD Michael Frank Last update 29 November 2022 Genetic tumour risk syndromes Edited by Fred Menko ...
particularly for ER-specific disease. The majority of the data in the BCAC dataset were generated with the OncoArray, however, ~27% samples were genotyped using iCOGS array, which has lower genome-coverage. Of the 287 SNPs, 42 SNPs have imputation score between 0.75 and 0.9, while 53 SNPs...
Kim S, Xing EP : Statistical estimation of correlated genome associations to a quantitative trait network. PLoS Genet 2009; 5: e1000587. Article PubMed PubMed Central Google Scholar Ferreira MAR, Purcell SM : A multivariate test of association. Bioinformatics 2009; 25: 132–133. Article CAS ...
Introduction: Persistence of the left superior vena cava (LSVC) is a rare anatomical variant in the general population with an estimated incidence of 0.3-0.5% in healthy individuals. Its diagnosis can be made incidentally after imaging control of central venous catheter (CVC) or other types of ...
Wojciechowski P, Wilson K, Nazir J, Pustułka I, Tytuła A, Smela B, Pochopień M, Vredenburg M, McCrae KR, Jurczak W (2021) Efficacy and safety of avatrombopag in patients with chronic immune thrombocytopenia: a systematic literature review and network meta-analysis. Adv Ther 38:31...
Global point prevalence was calculated using rare disease prevalence data for predefined geographic regions from the ‘Orphanet Epidemiological file’ (http://www.orphadata.org/cgi-bin/epidemio.html). Of the 5304 diseases defined by point prevalence, 84.5% of those analysed have a point prevalence...
P190 or other rare variant CML should only be diagnosed when expression of the atypical BCR::ABL1 isoform is at a level consistent with the burden of pre-treatment disease, i.e. comparable to that seen in standard e13a2/e14a2 cases. Similarly, as mentioned above, patients with atypical ...