Michael R Knowles

Michael R Knowles

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Michael R Knowles

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Errors in Methodology Affect Diagnostic Accuracy of High-Speed Videomicroscopy Analysis in Primary Ciliary Dyskinesia.

Chest 2019 Nov;156(5):1032-1033

Department of Medicine, Marsico Lung Institute, University of North Carolina School of Medicine, Chapel Hill, NC.

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http://dx.doi.org/10.1016/j.chest.2019.06.021DOI Listing
November 2019

Identification of genetic variants in CFAP221 as a cause of primary ciliary dyskinesia.

J Hum Genet 2019 Oct 21. Epub 2019 Oct 21.

Department of Pathology and Laboratory Medicine, Marsico Lung Institute University of North Carolina, Chapel Hill, NC, 27599, USA.

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http://dx.doi.org/10.1038/s10038-019-0686-1DOI Listing
October 2019

Genetic modifiers of cystic fibrosis-related diabetes have extensive overlap with type 2 diabetes and related traits.

J Clin Endocrinol Metab 2019 Oct 19. Epub 2019 Oct 19.

McKusick-Nathans Institute of the Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA.

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http://dx.doi.org/10.1210/clinem/dgz102DOI Listing
October 2019

The expanding phenotype of OFD1-related disorders: Hemizygous loss-of-function variants in three patients with primary ciliary dyskinesia.

Mol Genet Genomic Med 2019 Sep 1;7(9):e911. Epub 2019 Aug 1.

Department of Pathology and Laboratory Medicine, Marsico Lung Institute, University of North Carolina, Chapel Hill, North Carolina.

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http://dx.doi.org/10.1002/mgg3.911DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6732318PMC
September 2019

Cytoplasmic "ciliary inclusions" in isolation are not sufficient for the diagnosis of primary ciliary dyskinesia.

Pediatr Pulmonol 2019 Sep 23. Epub 2019 Sep 23.

Department of Medicine, Marsico Lung Institute, University of North Carolina, Chapel Hill, North Carolina.

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http://dx.doi.org/10.1002/ppul.24528DOI Listing
September 2019

High-Speed Videomicrosopy Analysis Presents Limitations in Diagnosis of Primary Ciliary Dyskinesia.

Am J Respir Crit Care Med 2019 Aug 21. Epub 2019 Aug 21.

University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, United States.

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http://dx.doi.org/10.1164/rccm.201907-1366LEDOI Listing
August 2019

Primary ciliary dyskinesia in Japan: systematic review and meta-analysis.

BMC Pulm Med 2019 Jul 25;19(1):135. Epub 2019 Jul 25.

Department of Pathophysiology and Host Defense, the Research Institute of Tuberculosis, Japan Anti-tuberculosis Association, 3-1-24, Matsuyama, Kiyose, Tokyo, 204-8533, Japan.

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http://dx.doi.org/10.1186/s12890-019-0897-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6659197PMC
July 2019

Primary Ciliary Dyskinesia (PCD): A genetic disorder of motile cilia.

Transl Sci Rare Dis 2019 4;4(1-2):51-75. Epub 2019 Jul 4.

Department of Medicine and Marsico Lung Institute, University of North Carolina School of Medicine, Chapel Hill, North Carolina.

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https://www.medra.org/servlet/aliasResolver?alias=iospress&a
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http://dx.doi.org/10.3233/TRD-190036DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6768089PMC
July 2019

Nasal Nitric Oxide in Primary Immunodeficiency and Primary Ciliary Dyskinesia: Helping to Distinguish Between Clinically Similar Diseases.

J Clin Immunol 2019 Feb 26;39(2):216-224. Epub 2019 Mar 26.

Montreal Children's Hospital, McGill University Health Center, 1001 Boulevard Décarie, Montreal, Quebec, H4A 3J1, Canada.

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http://dx.doi.org/10.1007/s10875-019-00613-8DOI Listing
February 2019

AGTR2 absence or antagonism prevents cystic fibrosis pulmonary manifestations.

J Cyst Fibros 2019 Jan 22;18(1):127-134. Epub 2018 Jun 22.

Department of Genetics and Genome Sciences, Case Western Reserve University, Cleveland, OH 44106, USA; Department of Pediatrics, Case Western Reserve University, Cleveland, OH 44106, USA.

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http://dx.doi.org/10.1016/j.jcf.2018.05.013DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6830504PMC
January 2019

The prevalence of the defining features of primary ciliary dyskinesia within a cri du chat syndrome cohort.

Pediatr Pulmonol 2018 11 20;53(11):1565-1573. Epub 2018 Sep 20.

Department of Pediatrics, Division of Pediatric Respiratory Medicine, McGill University Health Centre Research Institute, Montreal, Quebec.

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http://doi.wiley.com/10.1002/ppul.24159
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http://dx.doi.org/10.1002/ppul.24159DOI Listing
November 2018

Cystic Fibrosis Disease Modifiers: Complex Genetics Defines the Phenotypic Diversity in a Monogenic Disease.

Annu Rev Genomics Hum Genet 2018 08 25;19:201-222. Epub 2018 Apr 25.

Cystic Fibrosis/Pulmonary Research and Treatment Center, Marsico Lung Institute, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina 27599, USA; email: ,

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http://dx.doi.org/10.1146/annurev-genom-083117-021329DOI Listing
August 2018

Primary Ciliary Dyskinesia Diagnosis. Is Color Better Than Black and White?

Am J Respir Crit Care Med 2017 07;196(1):9-10

2 Department of Pediatrics University of North Carolina Chapel Hill, North Carolina.

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http://dx.doi.org/10.1164/rccm.201702-0426EDDOI Listing
July 2017

Assessment of Ciliary Beat Pattern: Variability in Healthy Control Subjects Has Implications for Use as Test for Primary Ciliary Dyskinesia.

Chest 2017 05;151(5):958-959

Department of Medicine, University of North Carolina at Chapel Hill, Chapel Hill, NC.

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http://dx.doi.org/10.1016/j.chest.2016.11.025DOI Listing
May 2017

Primary Ciliary Dyskinesia.

Clin Chest Med 2016 09 30;37(3):449-61. Epub 2016 Jun 30.

Department of Pediatrics, Marsico Lung Institute/UNC CF Research Center, School of Medicine, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA.

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http://dx.doi.org/10.1016/j.ccm.2016.04.008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4988337PMC
September 2016

Features of Severe Liver Disease With Portal Hypertension in Patients With Cystic Fibrosis.

Clin Gastroenterol Hepatol 2016 08 5;14(8):1207-1215.e3. Epub 2016 Apr 5.

Division of Gastroenterology, Hepatology and Nutrition, The Hospital for Sick Children, Toronto, Canada; Department of Pediatrics, University of Toronto, Toronto, Canada.

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http://dx.doi.org/10.1016/j.cgh.2016.03.041DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4955685PMC
August 2016

Novel variation at chr11p13 associated with cystic fibrosis lung disease severity.

Hum Genome Var 2016 7;3:16020. Epub 2016 Jul 7.

Marsico Lung Institute, CF/Pulmonary Research and Treatment Center, School of Medicine, University of North Carolina at Chapel Hill , Chapel Hill, NC, USA.

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http://dx.doi.org/10.1038/hgv.2016.20DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4935763PMC
July 2016

Whole-Exome Sequencing and Targeted Copy Number Analysis in Primary Ciliary Dyskinesia.

G3 (Bethesda) 2015 Jul 2;5(8):1775-81. Epub 2015 Jul 2.

Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON, M5G 1X8, Canada Department of Medicine, University of Toronto, Toronto, ON, Canada Department of Pediatrics, University of Toronto, Toronto, ON, Canada

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http://dx.doi.org/10.1534/g3.115.019851DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4528333PMC
July 2015

Sperm-associated antigen 6 (SPAG6) deficiency and defects in ciliogenesis and cilia function: polarity, density, and beat.

PLoS One 2014 21;9(10):e107271. Epub 2014 Oct 21.

Department of Obstetrics and Gynecology, Virginia Commonwealth University, Richmond, Virginia, United States of America; Department of Biochemistry and Molecular Biology, Virginia Commonwealth University, Richmond, Virginia, United States of America.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0107271PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4204823PMC
June 2015

Exome Sequencing of Phenotypic Extremes Identifies CAV2 and TMC6 as Interacting Modifiers of Chronic Pseudomonas aeruginosa Infection in Cystic Fibrosis.

PLoS Genet 2015 Jun 5;11(6):e1005273. Epub 2015 Jun 5.

Department of Pediatrics, University of Washington, Seattle, Washington, United States of America; Department of Genome Sciences, University of Washington, Seattle, Washington, United States of America; Division of Genetic Medicine, Seattle Children's Hospital, Seattle, Washington, United States of America.

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http://dx.doi.org/10.1371/journal.pgen.1005273DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4457883PMC
June 2015

Variants in Solute Carrier SLC26A9 Modify Prenatal Exocrine Pancreatic Damage in Cystic Fibrosis.

J Pediatr 2015 May 11;166(5):1152-1157.e6. Epub 2015 Mar 11.

Program in Genetics and Genome Biology, the Hospital for Sick Children, Toronto, Ontario, Canada; Division of Biostatistics, Dalla Lana School of Public Health, University of Toronto, Toronto, Ontario, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.jpeds.2015.01.044DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4530786PMC
May 2015

The prevalence of clinical features associated with primary ciliary dyskinesia in a heterotaxy population: results of a web-based survey.

Cardiol Young 2015 Apr 6;25(4):752-9. Epub 2014 Jun 6.

2Department of Pediatrics,University of North Carolina,Chapel Hill,North Carolina,United States of America.

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http://dx.doi.org/10.1017/S1047951114000912DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4369774PMC
April 2015

Carrier frequencies of eleven mutations in eight genes associated with primary ciliary dyskinesia in the Ashkenazi Jewish population.

Mol Genet Genomic Med 2015 Mar 6;3(2):137-42. Epub 2014 Dec 6.

Department of Pathology/Lab Medicine, University of North Carolina School of Medicine Chapel Hill, North Carolina.

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http://dx.doi.org/10.1002/mgg3.124DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4367086PMC
March 2015

Meconium ileus in cystic fibrosis is not linked to central repetitive region length variation in MUC1, MUC2, and MUC5AC.

J Cyst Fibros 2014 Dec 8;13(6):613-6. Epub 2014 Jun 8.

Cystic Fibrosis/Pulmonary Research and Treatment Center, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA. Electronic address:

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http://dx.doi.org/10.1016/j.jcf.2014.05.005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4253052PMC
December 2014

Ets homologous factor regulates pathways controlling response to injury in airway epithelial cells.

Nucleic Acids Res 2014 Dec 20;42(22):13588-98. Epub 2014 Nov 20.

Human Molecular Genetics Program, Lurie Children's Research Center, Chicago, IL 60614, USA Department of Pediatrics, Northwestern University Feinberg School of Medicine, Chicago, IL 60611, USA Robert H. Lurie Comprehensive Cancer Center, Northwestern University Feinberg School of Medicine, Chicago, IL 60611, USA

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http://dx.doi.org/10.1093/nar/gku1146DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4267623PMC
December 2014

Cryo-electron tomography reveals ciliary defects underlying human RSPH1 primary ciliary dyskinesia.

Nat Commun 2014 Dec 4;5:5727. Epub 2014 Dec 4.

Rosenstiel Basic Medical Sciences Research Center, Department of Biology, Brandeis University, Waltham, Massachusetts 02454, USA.

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http://dx.doi.org/10.1038/ncomms6727DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4267722PMC
December 2014

Cri du chat syndrome and primary ciliary dyskinesia: a common genetic cause on chromosome 5p.

J Pediatr 2014 Oct 25;165(4):858-61. Epub 2014 Jul 25.

Department of Pathology and Laboratory Medicine, University of North Carolina, Chapel Hill, NC.

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http://dx.doi.org/10.1016/j.jpeds.2014.06.048DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4177261PMC
October 2014

Environmental risks for nontuberculous mycobacteria. Individual exposures and climatic factors in the cystic fibrosis population.

Ann Am Thorac Soc 2014 Sep;11(7):1032-8

1 Laboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Maryland.

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http://dx.doi.org/10.1513/AnnalsATS.201404-184OCDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4214058PMC
September 2014

Human airway ciliary dynamics.

Am J Physiol Lung Cell Mol Physiol 2013 Feb 9;304(3):L170-83. Epub 2012 Nov 9.

Cystic Fibrosis Center, University of North Carolina, 6026 Thurston-Bowles Bldg., CB7248, Chapel Hill, NC 27599, USA.

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http://dx.doi.org/10.1152/ajplung.00105.2012DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3567369PMC
February 2013

The influence of genetics on cystic fibrosis phenotypes.

Cold Spring Harb Perspect Med 2012 Dec 1;2(12):a009548. Epub 2012 Dec 1.

Cystic Fibrosis-Pulmonary Research and Treatment Center, University of North Carolina at Chapel Hill, Chapel Hill, NC 27514, USA.

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http://dx.doi.org/10.1101/cshperspect.a009548DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3543075PMC
December 2012

Variation in MSRA modifies risk of neonatal intestinal obstruction in cystic fibrosis.

PLoS Genet 2012 15;8(3):e1002580. Epub 2012 Mar 15.

McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.

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http://dx.doi.org/10.1371/journal.pgen.1002580DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3305406PMC
September 2012

The challenges of diagnosing primary ciliary dyskinesia.

Proc Am Thorac Soc 2011 Sep;8(5):434-7

Department of Pediatrics, University of North Carolina, Chapel Hill, NC 27516, USA.

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http://dx.doi.org/10.1513/pats.201103-028SDDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3209576PMC
September 2011

Plasma TGF-β₁ in pediatric cystic fibrosis: potential biomarker of lung disease and response to therapy.

Pediatr Pulmonol 2011 Jul 18;46(7):688-95. Epub 2011 Feb 18.

Division of Pulmonology, Department of Pediatrics, University of Alabama at Birmingham, 1600 7th Avenue South, Birmingham, AL 35233-1711, USA.

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http://dx.doi.org/10.1002/ppul.21430DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3115503PMC
July 2011

Quantification of population structure using correlated SNPs by shrinkage principal components.

Hum Hered 2010 23;70(1):9-22. Epub 2010 Apr 23.

Department of Biostatistics, The University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA. fzou @ bios.unc.edu

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http://dx.doi.org/10.1159/000288706DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2912642PMC
October 2010

Primary ciliary dyskinesia in Amish communities.

J Pediatr 2010 Jun 29;156(6):1023-1025. Epub 2010 Mar 29.

Department of Pediatrics, Washington University School of Medicine, St. Louis, MO. Electronic address:

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http://dx.doi.org/10.1016/j.jpeds.2010.01.054DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2875274PMC
June 2010

Transforming growth factor-beta(1) in bronchoalveolar lavage fluid from children with cystic fibrosis.

Pediatr Pulmonol 2009 Nov;44(11):1057-64

Division of Pulmonology, Department of Pediatrics, University of Alabama at Birmingham, Birmingham, Alabama, USA.

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http://dx.doi.org/10.1002/ppul.21079DOI Listing
November 2009

Clinical and genetic aspects of primary ciliary dyskinesia/Kartagener syndrome.

Genet Med 2009 Jul;11(7):473-87

Department of Pediatrics, University of North Carolina School of Medicine, Chapel Hill, North Carolina, USA.

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http://dx.doi.org/10.1097/GIM.0b013e3181a53562DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3739704PMC
July 2009

Primary ciliary dyskinesia: improving the diagnostic approach.

Curr Opin Pediatr 2009 Jun;21(3):320-5

Department of Pediatrics, University of North Carolina School of Medicine, Chapel Hill, NC 27599-7220, USA.

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http://dx.doi.org/10.1097/MOP.0b013e328329cddbDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3665363PMC
June 2009