Miguel Servet Fellow (Instituto de Salud Carlos III-FSE) CP18/0150

Schimke immuno-osseous dysplasia (SIOD) is an autosomal recessive, fatal childhood disorder associated with skeletal dysplasia, renal dysfunction, and T-cell immunodeficiency. This disease is linked to biallelic loss-of-function mutations of the SMARCAL1 gene. Although ...

International audience; 25-30% of families fulfilling the criteria for Hereditary Diffuse Gastric Cancer have germline mutations of the CDH1 (E-cadherin) gene. In light of new data and advancement of technologies a multidisciplinary workshop was convened to discuss gene...

Hippocampal subfield analysis is increasingly performed with the availability of automated magnetic resonance imaging segmentation methods. We give a synopsis of the FreeSurfer hippocampal subfield segmentation algorithm, measurement reliability studies and application ...

Resume Objectifs Les personnes atteintes de vascularite a ANCA presentent un risque accru d’evenements cardiovasculaires. L’objectif de cette etude etait d’evaluer les facteurs predictifs d’evenements cardiovasculaires chez des patients atteints de granulomatose avec po...

The European Commission's Scientific Committee on Health, Environmental and Emerging Risks and the World Health Organization recently published reports which concluded that a large proportion of melanoma and non-melanoma skin cancer is attributable to sunbed use, and th...

Abstract Background and purpose Distant metastases are the dominant mode of failure after stereotactic body radiotherapy (SBRT) for early-stage non-small cell lung cancer (NSCLC). The primary study objective was to evaluate if the maximum standardized uptake value (SUV ...

Objective: The soluble guanylate cyclase stimulator riociguat is approved for the treatment of adult patients with pulmonary arterial hypertension (PAH) and inoperable or persistent/recurrent chronic thromboembolic pulmonary hypertension (CTEPH) following Phase 3 random...

Purpose: To improve the outcome of the acute respiratory distress syndrome (ARDS), one needs to identify potentially modifiable factors associated with mortality. Methods: The large observational study to understand the global impact of severe acute respiratory failure ...

Fanconi anaemia (FA) is a chromosomal instability syndrome with autosomal recessive inheritance. We have identified the gene mutated in Fanconi anaemia group F patients by complementation cloning. FANCF has no introns and encodes a polypeptide with homology to the proka...