Peadar G Noone
Affiliation: University of North Carolina
- 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...
- 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...
- 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...
- 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...
- 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...
- 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...
- 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
- 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...