Maimoona A Zariwala

Maimoona A Zariwala

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Maimoona A Zariwala

Maimoona A Zariwala

Publications by authors named "Maimoona A Zariwala"

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58Publications

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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

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

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

Primary ciliary dyskinesia: keep it on your radar.

Thorax 2018 02 13;73(2):101-102. Epub 2017 Nov 13.

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

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http://dx.doi.org/10.1136/thoraxjnl-2017-210776DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6040643PMC
February 2018

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

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

Primary ciliary dyskinesia.

Semin Respir Crit Care Med 2015 Apr 31;36(2):169-79. Epub 2015 Mar 31.

The Division of Pulmonary Diseases, University of North Carolina, Chapel Hill, North Carolina.

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http://dx.doi.org/10.1055/s-0035-1546748DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4873960PMC
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

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

The emerging genetics of primary ciliary dyskinesia.

Proc Am Thorac Soc 2011 Sep;8(5):430-3

Department of Pathology/Lab Medicine, The University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA.

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http://dx.doi.org/10.1513/pats.201103-023SDDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3209577PMC
September 2011

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

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

High-resolution CT of patients with primary ciliary dyskinesia.

AJR Am J Roentgenol 2007 May;188(5):1232-8

Division of Pulmonary and Critical Care Medicine, University of North Carolina, Chapel Hill, NC, USA.

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http://dx.doi.org/10.2214/AJR.06.0965DOI Listing
May 2007

Genetic defects in ciliary structure and function.

Annu Rev Physiol 2007 ;69:423-50

Department of Medicine, Pathology and Laboratory Medicine, University of North Carolina, Chapel Hill, North Carolina 27599, USA.

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http://dx.doi.org/10.1146/annurev.physiol.69.040705.141301DOI Listing
April 2007

Calcium stone lithoptysis in primary ciliary dyskinesia.

Respir Med 2007 Jan 6;101(1):76-83. Epub 2006 Jun 6.

UNC Chapel Hill, Division of Pulmonary and Critical Care Medicine, Chapel Hill, NC 277599-7020, USA.

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http://dx.doi.org/10.1016/j.rmed.2006.04.007DOI Listing
January 2007

Identification and analysis of axonemal dynein light chain 1 in primary ciliary dyskinesia patients.

Am J Respir Cell Mol Biol 2005 Jul 21;33(1):41-7. Epub 2005 Apr 21.

Department of Pediatrics and Adolescent Medicine, Albert-Ludwigs-University, Freiburg, Germany.

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http://dx.doi.org/10.1165/rcmb.2004-0335OCDOI Listing
July 2005

Mislocalization of DNAH5 and DNAH9 in respiratory cells from patients with primary ciliary dyskinesia.

Am J Respir Crit Care Med 2005 Jun 4;171(12):1343-9. Epub 2005 Mar 4.

Department of Pediatrics and Adolescent Medicine, Mathildenstrasse 1, 79106 Freiburg, Germany.

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http://dx.doi.org/10.1164/rccm.200411-1583OCDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2718478PMC
June 2005

Primary ciliary dyskinesia: diagnostic and phenotypic features.

Am J Respir Crit Care Med 2004 Feb 4;169(4):459-67. Epub 2003 Dec 4.

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

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http://www.atsjournals.org/doi/abs/10.1164/rccm.200303-365OC
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http://dx.doi.org/10.1164/rccm.200303-365OCDOI Listing
February 2004