Exome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal …

M Schmidts, HH Arts, EMHF Bongers, Z Yap… - Journal of medical …, 2013 - jmg.bmj.com
Background Jeune asphyxiating thoracic dystrophy (JATD) is a rare, often lethal, recessively
inherited chondrodysplasia characterised by shortened ribs and long bones, sometimes …

Biomarkers in exhaled breath condensate indicate presence and severity of cystic fibrosis in children

CM Robroeks, PPR Rosias, D Van Vliet… - Pediatric Allergy and …, 2008 - Wiley Online Library
Chronic airway inflammation is present in cystic fibrosis (CF). Non‐invasive inflammometry
may be useful in disease management. The aim of the present cross‐sectional study was to …

Structural lung changes, lung function, and non‐invasive inflammatory markers in cystic fibrosis

CM Robroeks, MH Roozeboom… - Pediatric allergy and …, 2010 - Wiley Online Library
Robroeks CMHHT, Roozeboom MH, de Jong PA, Tiddens HAWM, Jöbsis Q, Hendriks HJ,
Yntema J‐BL, Brackel HL, van Gent R, Robben S, Dompeling E. Structural lung changes …

[HTML][HTML] How about your peers? Cystic fibrosis questionnaire data from healthy children and adolescents

MM Tibosch, CJ Sintnicolaas, JB Peters, PJFM Merkus… - BMC pediatrics, 2011 - Springer
Abstract Background The Cystic Fibrosis Questionnaire (CFQ) is widely used in research as
an instrument to measure quality of life in patients with cystic fibrosis (CF). In routine patient …