Maimoona A Zariwala

Summary

Affiliation: University of North Carolina
Country: USA

Publications

  1. ncbi request reprint Congenital heart disease and other heterotaxic defects in a large cohort of patients with primary ciliary dyskinesia
    Marcus P Kennedy
    University of North Carolina, Chapel Hill, NC, USA
    Circulation 115:2814-21. 2007
  2. ncbi request reprint A multicenter study of the frequency and distribution of GJB2 and GJB6 mutations in a large North American cohort
    Girish V Putcha
    Department of Pathology, Stanford University School of Medicine, Stanford, California 94305, USA
    Genet Med 9:413-26. 2007
  3. pmc The emerging genetics of primary ciliary dyskinesia
    Maimoona A Zariwala
    Department of Pathology Lab Medicine, The University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA
    Proc Am Thorac Soc 8:430-3. 2011
  4. pmc Mutations of DNAI1 in primary ciliary dyskinesia: evidence of founder effect in a common mutation
    Maimoona 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
  5. ncbi request reprint Genetic defects in ciliary structure and function
    Maimoona A Zariwala
    Department of Medicine, Pathology and Laboratory Medicine, University of North Carolina, Chapel Hill, North Carolina 27599, USA
    Annu Rev Physiol 69:423-50. 2007
  6. pmc Mutations of DNAH11 in patients with primary ciliary dyskinesia with normal ciliary ultrastructure
    Michael R Knowles
    University of North Carolina, Cystic Fibrosis Pulmonary Research and Treatment Center, School of Medicine, CB 7248, 7123 Thurston Bowles Bldg, Chapel Hill, NC 27599 7248, USA
    Thorax 67:433-41. 2012
  7. pmc Primary ciliary dyskinesia: improving the diagnostic approach
    Margaret W Leigh
    Department of Pediatrics, University of North Carolina School of Medicine, Chapel Hill, NC 27599 7220, USA
    Curr Opin Pediatr 21:320-5. 2009
  8. pmc Exome sequencing identifies mutations in CCDC114 as a cause of primary ciliary dyskinesia
    Michael R Knowles
    Department of Medicine, UNC School of Medicine, Chapel Hill, NC 27599, USA
    Am J Hum Genet 92:99-106. 2013
  9. ncbi request reprint High-resolution CT of patients with primary ciliary dyskinesia
    Marcus 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
  10. pmc Clinical and genetic aspects of primary ciliary dyskinesia/Kartagener syndrome
    Margaret W Leigh
    Department of Pediatrics, University of North Carolina School of Medicine, Chapel Hill, North Carolina, USA
    Genet Med 11:473-87. 2009

Collaborators

Detail Information

Publications16

  1. ncbi request reprint Congenital heart disease and other heterotaxic defects in a large cohort of patients with primary ciliary dyskinesia
    Marcus 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...
  2. ncbi request reprint A multicenter study of the frequency and distribution of GJB2 and GJB6 mutations in a large North American cohort
    Girish V Putcha
    Department of Pathology, Stanford University School of Medicine, Stanford, California 94305, USA
    Genet Med 9:413-26. 2007
    ....
  3. pmc The emerging genetics of primary ciliary dyskinesia
    Maimoona A Zariwala
    Department of Pathology Lab Medicine, The University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA
    Proc Am Thorac Soc 8:430-3. 2011
    ..In conclusion, we demonstrate the multipronged approach that is necessary to circumvent challenges due to genetic heterogeneity to uncover genetic causes of PCD...
  4. pmc Mutations of DNAI1 in primary ciliary dyskinesia: evidence of founder effect in a common mutation
    Maimoona 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...
  5. ncbi request reprint Genetic defects in ciliary structure and function
    Maimoona A Zariwala
    Department of Medicine, Pathology and Laboratory Medicine, University of North Carolina, Chapel Hill, North Carolina 27599, USA
    Annu Rev Physiol 69:423-50. 2007
    ..Recent mutational analysis demonstrated that 38% of PCD patients carry mutations of the dynein genes DNAI1 and DNAH5. Increased understanding of the pathogenesis will aid in better diagnosis and treatment of PCD...
  6. pmc Mutations of DNAH11 in patients with primary ciliary dyskinesia with normal ciliary ultrastructure
    Michael R Knowles
    University of North Carolina, Cystic Fibrosis Pulmonary Research and Treatment Center, School of Medicine, CB 7248, 7123 Thurston Bowles Bldg, Chapel Hill, NC 27599 7248, USA
    Thorax 67:433-41. 2012
    ....
  7. pmc Primary ciliary dyskinesia: improving the diagnostic approach
    Margaret W Leigh
    Department of Pediatrics, University of North Carolina School of Medicine, Chapel Hill, NC 27599 7220, USA
    Curr Opin Pediatr 21:320-5. 2009
    ..This review outlines the potential utility of new diagnostic tests, including measurement of nasal nitric oxide production and systematic analysis for mutations in genes encoding ciliary proteins...
  8. pmc Exome sequencing identifies mutations in CCDC114 as a cause of primary ciliary dyskinesia
    Michael R Knowles
    Department of Medicine, UNC School of Medicine, Chapel Hill, NC 27599, USA
    Am J Hum Genet 92:99-106. 2013
    ..These results revealed that mutations in CCDC114 are a cause of ciliary dysmotility and PCD and further demonstrate the utility of exome sequencing to identify genetic causes in heterogeneous recessive disorders...
  9. ncbi request reprint High-resolution CT of patients with primary ciliary dyskinesia
    Marcus 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...
  10. pmc Clinical and genetic aspects of primary ciliary dyskinesia/Kartagener syndrome
    Margaret W Leigh
    Department of Pediatrics, University of North Carolina School of Medicine, Chapel Hill, North Carolina, USA
    Genet Med 11:473-87. 2009
    ....
  11. ncbi request reprint Calcium stone lithoptysis in primary ciliary dyskinesia
    Marcus 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...
  12. ncbi request reprint Primary ciliary dyskinesia: diagnostic and phenotypic features
    Peadar 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...
  13. pmc Next generation massively parallel sequencing of targeted exomes to identify genetic mutations in primary ciliary dyskinesia: implications for application to clinical testing
    Jonathan S Berg
    Departments of Genetics, The University of North Carolina Chapel Hill, North Carolina 27599 7264, USA
    Genet Med 13:218-29. 2011
    ..The objective of this study was to investigate the performance characteristics of exon-capture technology coupled with massively parallel sequencing for clinical diagnostic evaluation...
  14. pmc DNAH5 mutations are a common cause of primary ciliary dyskinesia with outer dynein arm defects
    Nada 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...
  15. ncbi request reprint Identification and analysis of axonemal dynein light chain 1 in primary ciliary dyskinesia patients
    Judit Horvath
    Department of Pediatrics and Adolescent Medicine, Albert Ludwigs University, Freiburg, Germany
    Am J Respir Cell Mol Biol 33:41-7. 2005
    ..Based on these findings, we considered DNAL1 a candidate for PCD and sequenced all exons of DNAL1 in 86 patients. Mutational analysis was negative, excluding a major role of DNAL1 in the pathogenesis of PCD...
  16. pmc Mislocalization of DNAH5 and DNAH9 in respiratory cells from patients with primary ciliary dyskinesia
    Manfred Fliegauf
    Department of Pediatrics and Adolescent Medicine, Mathildenstrasse 1, 79106 Freiburg, Germany
    Am J Respir Crit Care Med 171:1343-9. 2005
    ..Diagnosis of PCD usually relies on electron microscopy, which is technically demanding and sometimes difficult to interpret...