0000000000171861

AUTHOR

Maria Cols-roig

showing 2 related works from this author

Implementation of a gene panel for genetic diagnosis of primary ciliary dyskinesia

2021

Abstract Introduction Primary ciliary dyskinesia (PCD) is characterized by an alteration in the ciliary structure causing difficulty in the clearance of respiratory secretions. Diagnosis is complex and based on a combination of techniques. The objective of this study was to design a gene panel including all known causative genes, and to corroborate their diagnostic utility in a cohort of Spanish patients. Methods This was a multicenter cross-sectional study of patients with a high suspicion of PCD according to European Respiratory Society criteria. We designed a gene panel for massive sequencing using SeqCap EZ capture technology that included 44 genes associated with PCD. Results We includ…

business.industryGeneral Medicinemedicine.diseaseCompound heterozygosityBioinformatics03 medical and health sciences0302 clinical medicine030228 respiratory systemGene panelCohortotorhinolaryngologic diseasesMedicineGenetic diagnosisbusinessGenePrimary ciliary dyskinesiaArchivos de Bronconeumología (English Edition)
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Impact of SARS-CoV-2 infection in patients with cystic fibrosis in Spain: Incidence and results of the national CF-COVID19-Spain survey

2020

CF-COVID19-Spain Registry Group.

AdultMalePulmonary and Respiratory MedicinePediatricsmedicine.medical_specialtyPneumonia ViralPopulationDiseaseRisk AssessmentCystic fibrosisArticleCystic fibrosisBetacoronavirus03 medical and health sciencesCOVID-19 Testing0302 clinical medicinemedicineHumansRegistries030212 general & internal medicineMortalityeducationPandemicsRetrospective Studieseducation.field_of_studyClinical Laboratory Techniquesbusiness.industrySARS-CoV-2IncidenceIncidence (epidemiology)Mortality rateCOVID-19Retrospective cohort studymedicine.diseaseCoronavirus030228 respiratory systemSpainFemaleObservational studyCoronavirus InfectionsRisk assessmentbusiness
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