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Expression of a Truncated Form of ODAD1 Associated with an Unusually Mild Primary Ciliary Dyskinesia Phenotype.
Published in:
International Journal of Molecular Sciences, 2022, v. 23, n. 3, p. 1753, doi. 10.3390/ijms23031753
By:
- Ostrowski, Lawrence E.;
- Yin, Weining;
- Smith, Amanda J.;
- Sears, Patrick R.;
- Bustamante-Marin, Ximena M.;
- Dang, Hong;
- Hildebrandt, Friedhelm;
- Daniels, Leigh Anne;
- Capps, Nicole A.;
- Sullivan, Kelli M.;
- Leigh, Margaret W.;
- Zariwala, Maimoona A.;
- Knowles, Michael R.
Publication type:
Article
Diagnosis of Primary Ciliary Dyskinesia. An Official American Thoracic Society Clinical Practice Guideline.
Published in:
2018
By:
- Shapiro, Adam J.;
- Davis, Stephanie D.;
- Polineni, Deepika;
- Manion, Michele;
- Rosenfeld, Margaret;
- Dell, Sharon D.;
- Chilvers, Mark A.;
- Ferkol, Thomas W.;
- Zariwala, Maimoona A.;
- Sagel, Scott D.;
- Josephson, Maureen;
- Morgan, Lucy;
- Yilmaz, Ozge;
- Olivier, Kenneth N.;
- Milla, Carlos;
- Pittman, Jessica E.;
- Daniels, M. Leigh Anne;
- Jones, Marcus Herbert;
- Janahi, Ibrahim A.;
- Ware, Stephanie M.
Publication type:
journal article
Mutation of CFAP57, a protein required for the asymmetric targeting of a subset of inner dynein arms in Chlamydomonas, causes primary ciliary dyskinesia.
Published in:
PLoS Genetics, 2020, v. 16, n. 8, p. 1, doi. 10.1371/journal.pgen.1008691
By:
- Bustamante-Marin, Ximena M.;
- Horani, Amjad;
- Stoyanova, Mihaela;
- Charng, Wu-Lin;
- Bottier, Mathieu;
- Sears, Patrick R.;
- Yin, Wei-Ning;
- Daniels, Leigh Anne;
- Bowen, Hailey;
- Conrad, Donald F.;
- Knowles, Michael R.;
- Ostrowski, Lawrence E.;
- Zariwala, Maimoona A.;
- Dutcher, Susan K.
Publication type:
Article
Primary ciliary dyskinesia. Recent advances in diagnostics, genetics, and characterization of clinical disease.
Published in:
2013
By:
- Knowles, Michael R;
- Daniels, Leigh Anne;
- Davis, Stephanie D;
- Zariwala, Maimoona A;
- Leigh, Margaret W
Publication type:
journal article
Primary Ciliary Dyskinesia.
Published in:
American Journal of Respiratory & Critical Care Medicine, 2013, v. 188, n. 8, p. 913, doi. 10.1164/rccm.201301-0059CI
By:
- Knowles, Michael R.;
- Daniels, Leigh Anne;
- Davis, Stephanie D.;
- Zariwala, Maimoona A.;
- Leigh, Margaret W.
Publication type:
Article
Founder Mutation in RSPH4A Identified in Patients of Hispanic Descent with Primary Ciliary Dyskinesia.
Published in:
Human Mutation, 2013, v. 34, n. 10, p. 1352, doi. 10.1002/humu.22371
By:
- Daniels, M. Leigh Anne;
- Leigh, Margaret W.;
- Davis, Stephanie D.;
- Armstrong, Michael C.;
- Carson, Johnny L.;
- Hazucha, Milan;
- Dell, Sharon D.;
- Eriksson, Maria;
- Collins, Francis S.;
- Knowles, Michael R.;
- Zariwala, Maimoona A.
Publication type:
Article
Mutations in CCDC 39 and CCDC 40 are the Major Cause of Primary Ciliary Dyskinesia with Axonemal Disorganization and Absent Inner Dynein Arms.
Published in:
Human Mutation, 2013, v. 34, n. 3, p. 462, doi. 10.1002/humu.22261
By:
- Antony, Dinu;
- Becker‐Heck, Anita;
- Zariwala, Maimoona A.;
- Schmidts, Miriam;
- Onoufriadis, Alexandros;
- Forouhan, Mitra;
- Wilson, Robert;
- Taylor‐Cox, Theresa;
- Dewar, Ann;
- Jackson, Claire;
- Goggin, Patricia;
- Loges, Niki T.;
- Olbrich, Heike;
- Jaspers, Martine;
- Jorissen, Mark;
- Leigh, Margaret W.;
- Wolf, Whitney E.;
- Daniels, M. Leigh Anne;
- Noone, Peadar G.;
- Ferkol, Thomas W.
Publication type:
Article
Enlarged Dural Sac in Idiopathic Bronchiectasis Implicates Heritable Connective Tissue Gene Variants.
Published in:
2016
By:
- Daniels, M. Leigh Anne;
- Birchard, Katherine R.;
- Lowe, Jared R.;
- Patrone, Michael V.;
- Noone, Peadar G.;
- Knowles, Michael R.
Publication type:
journal article

Found: 8