Cystic fibrosis [NEW TOPIC PAGE]

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Last Posted: Jun 25, 2020

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• Clinical service delivery of non-invasive prenatal diagnosis (NIPD) by relative haplotype dosage (RHDO) for single gene disorders.
  Young Elizabeth et al. The Journal of molecular diagnostics : JMD 2020 Jun
• Newborn screening alone insufficient to improve pulmonary outcomes for cystic fibrosis.
  Barreda Christina B et al. Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society 2020 Jun
• Molecular Diagnosis and Genetic Counseling of Cystic Fibrosis and Related Disorders: New Challenges.
  Bienvenu Thierry et al. Genes 2020 Jun 11(6)
• Laboratory reporting on the clinical spectrum of CFTR p.Arg117His: Still room for improvement.
  Laudus Nele et al. Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society 2020 Jun
• National Newborn Screening for cystic fibrosis in the Republic of Ireland: genetic data from the first 6.5 years.
  Sasaki Erina et al. European journal of human genetics : EJHG 2020 Jun
• Provision of information on transplantation to cystic fibrosis patients and their relatives: Overview of French practices and recommendations.
  David V et al. Respiratory medicine and research 2020 Jan 7779-88
• The Changing Epidemiology of Cystic Fibrosis: Incidence, Survival and Impact of the CFTR Gene Discovery.
  Scotet Virginie et al. Genes 2020 May 11(6)
• Breaking the diagnosis of cystic fibrosis to parents: A process not a one-off event.
  Bryon Mandy et al. Paediatric respiratory reviews 2020 Apr
• Review of the sweat test indications in a Brussels' cystic fibrosis reference center.
  Bensliman Safae et al. Annales de biologie clinique 2019 Dec 77(6) 687-692
• Experience with Parent Follow-Up for Communication Outcomes after Newborn Screening Identifies Carrier Status.
  Farrell Michael H et al. The Journal of pediatrics 2020 May

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