The Correlation Between Clinical Characteristics and Molecular Genetic Analysis Results of Primary Ciliary Dyskinesia Patients: Hacettepe University Experience

Emiralioğlu, Nagehan; Taşkıran, Ekim Z.; Koşukçu, Can; Bilgiç, Elif; Atilla, Pergin; Kaya, Bengisu; Günaydın, Rıza Önder; Yüzbaşıoğlu, Ayşe; Tuğcu, Gökçen Dilşa; Ademhan, Dilber; Polat, Sanem Eryılmaz; Hızal, Mina Gharibzadeh; Yalçın, Ebru; Ki̇per, Nural; Alikaşifoğlu, Mehmet

doi:10.1183/13993003.congress-2019.pa382

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Paediatric Bronchology2

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2020

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“…Unfortunately referral accuracy was low; 59.3% of referred patients scored <5 PICADAR points (cut-off score). EMIRALIOĞLU et al [69] showed in a cohort of 46 Turkish patients with PCD that subjects with CCNO mutations are diagnosed earlier and those with CCDC40 or CCNO mutations had more severe lung disease and poorer nutritional status. CORULLÓN et al [70] focused on psychological functioning of patients with PCD.…”

Section: Paediatric Bronchologymentioning

confidence: 99%

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ERS International Congress, Madrid, 2019: highlights from the Paediatric Assembly

et al. 2020

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Section: Paediatric Bronchologymentioning

confidence: 99%

“…E miralioğlu et al . [ 69 ] showed in a cohort of 46 Turkish patients with PCD that subjects with CCNO mutations are diagnosed earlier and those with CCDC40 or CCNO mutations had more severe lung disease and poorer nutritional status. C orullón et al .…”

Section: Paediatric Bronchologymentioning

confidence: 99%