Peadar G Noone
Affiliation: University of North Carolina
- Airway deposition and clearance and systemic pharmacokinetics of amiloride following aerosolization with an ultrasonic nebulizer to normal airwaysP G Noone
Cystic Fibrosis Pulmonary Research and Treatment Center, Department of Medicine, University of North Carolina at Chapel Hill, 27599 7248, USA
Chest 112:1283-90. 1997....
- Discordant organ laterality in monozygotic twins with primary ciliary dyskinesiaP G Noone
Department of Medicine, University of North Carolina at Chapel Hill, 27599 7249, USA
Am J Med Genet 82:155-60. 1999..This is consistent with the hypothesis that situs inversus occurring in patients with primary ciliary dyskinesia is a random but "complete" event in the fetal development of patients with PCD...
- Safety and biological efficacy of a lipid-CFTR complex for gene transfer in the nasal epithelium of adult patients with cystic fibrosisP G Noone
The Cystic Fibrosis Pulmonary Research and Treatment Center, Division of Pulmonary Medicine, University of North Carolina at Chapel Hill, 27599, USA
Mol Ther 1:105-14. 2000..We conclude that the lipid-DNA complex is safe, but did not produce consistent evidence of gene transfer to the nasal epithelium by physiologic or molecular measures...
- Safety of aerosolized INS 365 in patients with mild to moderate cystic fibrosis: results of a phase I multi-center studyP G Noone
University of North Carolina at Chapel Hill, 27599 7248, USA
Pediatr Pulmonol 32:122-8. 2001..The data suggest that aerosolized INS 365 is safe when delivered at single doses of up to 40 mg in adults and children with CF, but that higher doses are unlikely to be tolerated...
- 'CFTR-opathies': disease phenotypes associated with cystic fibrosis transmembrane regulator gene mutationsP G Noone
Pulmonary Research and Treatment Center, Department of Medicine, University of North Carolina at Chapel Hill, North Carolina 27599 7248, USA
Respir Res 2:328-32. 2001....
- Mutations in DNAI1 (IC78) cause primary ciliary dyskinesiaPeadar G Noone
Division of Pulmonary and Critical Care Medicine, Pulmonary Cystic Fibrosis Research and Treatment Center, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599 7248, USA
Chest 121:97S. 2002
- High-resolution CT of patients with primary ciliary dyskinesiaMarcus P Kennedy
Division of Pulmonary and Critical Care Medicine, University of North Carolina, Chapel Hill, NC, USA
AJR Am J Roentgenol 188:1232-8. 2007..We analyzed all high-resolution CT studies of the chest available for a cohort of PCD patients to identify an associated pattern of high-resolution CT changes...
- Calcium stone lithoptysis in primary ciliary dyskinesiaMarcus P Kennedy
UNC Chapel Hill, Division of Pulmonary and Critical Care Medicine, Chapel Hill, NC 277599 7020, USA
Respir Med 101:76-83. 2007..An association between lithoptysis and primary ciliary dyskinesia (PCD) has not been previously reported. However, reports of lithoptysis from 2 older patients (>60 yr) prompted a study of this association...
- Primary ciliary dyskinesia: diagnostic and phenotypic featuresPeadar G Noone
Department of Medicine, University of North Carolina School of Medicine, Chapel Hill, North Carolina, USA
Am J Respir Crit Care Med 169:459-67. 2004..An increased awareness of the clinical presentation and diagnostic criteria for PCD will help lead to better diagnosis and care for this orphan disease...
- A middle-aged woman with recurrent respiratory infectionsKathryn Chmura
Department of Medicine, University of Colorado Health Sciences Center, Denver, CO 80262, USA
Respiration 72:427-30. 2005
- Congenital heart disease and other heterotaxic defects in a large cohort of patients with primary ciliary dyskinesiaMarcus P Kennedy
University of North Carolina, Chapel Hill, NC, USA
Circulation 115:2814-21. 2007..Advances in diagnosis of PCD, such as genetic testing, allow the systematic investigation of this association...
- Investigation of the possible role of a novel gene, DPCD, in primary ciliary dyskinesiaMaimoona Zariwala
University of North Carolina at Chapel Hill School of Medicine, Cystic Fibrosis Pulmonary Research and Treatment Center, Chapel Hill, NC 27599 7248, USA
Am J Respir Cell Mol Biol 30:428-34. 2004..No disease-causing mutations were confirmed; however, one variant could not be excluded. Therefore, DPCD remains a novel candidate gene for PCD...
- Mutations of DNAI1 in primary ciliary dyskinesia: evidence of founder effect in a common mutationMaimoona A Zariwala
University of North Carolina at Chapel Hill 27599 7248, USA, and Department of Pediatrics and Adolescent Medicine, University Hospital Freiburg, Germany
Am J Respir Crit Care Med 174:858-66. 2006..Disease-causing mutations have been reported in DNAI1 and DNAH5 encoding outer dynein arm (ODA) proteins of cilia...
- Cystic fibrosis gene mutations and pancreatitis risk: relation to epithelial ion transport and trypsin inhibitor gene mutationsP G Noone
Department of Medicine, University of North Carolina, Chapel Hill, NC, USA
Gastroenterology 121:1310-9. 2001..The N34S PSTI mutation increased risk separately. Testing for pancreatitis-associated CFTR and PSTI genotypes may be useful in nonalcoholic pancreatitis...
- Lung transplant outcomes in cystic fibrosis patients with pre-operative Mycobacterium abscessus respiratory infectionsLeonard J Lobo
Division of Pulmonary and Critical Care Medicine, University of North Carolina, Chapel Hill, NC 27599, USA
Clin Transplant 27:523-9. 2013..Mycobacterium abscessus in cystic fibrosis (CF) patients is considered a contraindication to lung transplantation. We examine the post-transplant outcomes of CF patients with M. abscessus pre-transplant...
- Chronic Mycobacterium abscessus infection and lung function decline in cystic fibrosisCharles R Esther
Statistics, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA
J Cyst Fibros 9:117-23. 2010..Although nontuberculous mycobacteria (NTM) are recognized pathogens in cystic fibrosis (CF), associations with clinical outcomes remain unclear...
- Respiratory infections in patients with cystic fibrosis undergoing lung transplantationLeonard J Lobo
Division of Pulmonary and Critical Care Medicine, Duke University School of Medicine, Durham, NC, USA
Lancet Respir Med 2:73-82. 2014..Despite its complexity, lung transplantation in the cystic fibrosis population is safe, with good outcomes if the clinician is aware of all the potential pathogens and remains vigilant by means of surveillance and proactive treatment. ..
- Recent advances in cystic fibrosisJason Lobo
Division of Pulmonary and Critical Care Medicine, Department of Medicine, University of North Carolina, Chapel Hill, 27599 7020, USA
Clin Chest Med 33:307-28. 2012..Improvement in the delivery of care to patients in CF centers, using a team-based approach, and constant review of process, and by quality improvement projects, have also had an impact on outcomes in CF...
- Germline mutations in an intermediate chain dynein cause primary ciliary dyskinesiaM Zariwala
Department of Medicine, University of North Carolina at Chapel Hill, USA
Am J Respir Cell Mol Biol 25:577-83. 2001..Mutations in DNAI1 are causative for PCD with ODA defects, and are likely the genetic origin of clinical disease in some PCD patients with ultrastructural defects in the ODA...
- DNAH5 mutations are a common cause of primary ciliary dyskinesia with outer dynein arm defectsNada Hornef
Department of Pediatrics and Adolescent Medicine, Mathildenstrasse 1, 79106 Freiburg, Germany
Am J Respir Crit Care Med 174:120-6. 2006..To date, autosomal recessive mutations have only been identified in a small number of patients involving DNAI1 and DNAH5, which encode outer dynein arm components...
- Mutations in DNAH5 cause primary ciliary dyskinesia and randomization of left-right asymmetryHeike Olbrich
Department of Pediatrics and Adolescent Medicine, Albert Ludwigs University, 79106 Freiburg, Germany
Nat Genet 30:143-4. 2002..Here we characterize the full-length 14-kb transcript of DNAH5. Sequence analysis in individuals with PCD with randomization of LR asymmetry identified mutations resulting in non-functional DNAH5 proteins...
- Standardized procedure for measurement of nasal potential difference: an outcome measure in multicenter cystic fibrosis clinical trialsThomas A Standaert
University of Washington, Seattle, Washington, USA
Pediatr Pulmonol 37:385-92. 2004..Valid and consistent results can be attained with trained operators and attention to technical details. These data demonstrate the procedure to be sufficient for multicenter studies in the CF Foundation network...
- Idiopathic pancreatitis related to CFTR: complex inheritance and identification of a modifier geneJonathan A Cohn
Duke University and Veterans Administration Medical Centers, Durham, NC, USA
J Investig Med 50:247S-255S. 2002..These findings indicate that PSTI is a modifier gene for CFTR-related ICP and have implications for the classification, diagnosis, and pathogenesis of pancreatitis...