Cystic Fibrosis

Last Posted: Nov-18-2016 10AM

 Cystic Fibrosis expanded expanded

Cystic fibrosis: to screen or not to screen? Involving a Citizens' jury in decisions on screening carrier.
Mosconi Paola et al. Health expectations : an international journal of public participation in health care and health policy 2015 Dec 18(6) 1956-67

Differences in Outcomes between Early and Late Diagnosis of Cystic Fibrosis in the Newborn Screening Era.
Coffey Michael J et al. The Journal of pediatrics 2016 Nov

New App for Cystic Fibrosis Patients Helps to Manage Symptoms
Global Genes, 2016

More information on this topic

Last Updated: Nov 16, 2016

• Cystic fibrosis: to screen or not to screen? Involving a Citizens' jury in decisions on screening carrier.
  Mosconi Paola et al. Health expectations : an international journal of public participation in health care and health policy 2015 Dec 18(6) 1956-67
• Differences in Outcomes between Early and Late Diagnosis of Cystic Fibrosis in the Newborn Screening Era.
  Coffey Michael J et al. The Journal of pediatrics 2016 Nov
• Quality of sweat test (ST) based on the proportion of sweat sodium (Na) and sweat chloride (Cl) as diagnostic parameter of cystic fibrosis: are we on the right way?
  Faria Alethéa Guimarães, et al. Diagnostic pathology 2016 10 (1) 103
• The +1858 C/T Polymorphism in the PTPN22 Gene Is Associated with Cystic Fibrosis Patients in Northeast Mexico.
  Salinas-Santander Mauricio A, et al. Archives of medical research 2016 7 (5) 403-406
• Genotype-phenotype correlation and functional studies in patients with cystic fibrosis bearing CFTR complex alleles.
  Terlizzi Vito, et al. Journal of medical genetics 2016 10
• Identification of Burkholderia and Uncommon Glucose Non-fermenting Gram-Negative Bacilli Isolated from Patients with Cystic Fibrosis using Matrix-Assisted Laser Desorption Ionization-Time of Flight Mass Spectrometry (MALDI-TOF MS).
  Plongla Rongpong, Panagea Theofano, Pincus David H, Jones Melissa C, Gilligan Peter H.Journal of clinical microbiology 2016 Oct
• CFTR pharmacology.
  Zegarra-Moran Olga et al. Cellular and molecular life sciences : CMLS 2016 Oct
• Cystic fibrosis transmembrane conductance regulator modulators in cystic fibrosis: current perspectives.
  Schmidt Béla Z et al. Clinical pharmacology : advances and applications 2016 127-140
• Cystic fibrosis: a clinical view.
  Castellani Carlo et al. Cellular and molecular life sciences : CMLS 2016 Oct
• Genetic medicines for CF: Hype versus reality.
  Alton Eric W F W et al. Pediatric pulmonology 2016 Oct (S44) S5-S17
• New App for Cystic Fibrosis Patients Helps to Manage Symptoms
  Global Genes, 2016
• Molecular epidemiology of mutations in antimicrobial resistance loci of Pseudomonas aeruginosa isolates from cystic fibrosis airways.
  Greipel Leonie, et al. Antimicrobial agents and chemotherapy 2016 8
• FUT2 genotype influences lung function, exacerbation frequency and airway microbiota in non-CF bronchiectasis.
  Taylor Steven L, et al. Thorax 2016 8
• Parent Experience With False-Positive Newborn Screening Results for Cystic Fibrosis.
  Hayeems Robin Z et al. Pediatrics 2016 Aug
• Truncating Mutations in the Adhesion G Protein-Coupled Receptor G2 Gene ADGRG2 Cause an X-Linked Congenital Bilateral Absence of Vas Deferens.
  Patat Olivier, et al. American journal of human genetics 2016 8 (2) 437-42

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Relevant Resources

• Genetics and Genomics Competencies Center (G2C2)
• NIH Genetic Testing Registry
• NIH MedGen Database
• Online Mendelian Inheritance in Man (OMIM)
• PharmGKB