'CFTR-opathies': disease phenotypes associated with cystic fibrosis transmembrane regulator gene mutations

por Noone, Peadar G, Knowles, Michael R
Publicado 2001

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

por Fedick, Anastasia M, Jalas, Chaim, Treff, Nathan R, Knowles, Michael R, Zariwala, Maimoona A
Publicado 2015

Limitations of Nasal Nitric Oxide Testing in Primary Ciliary Dyskinesia

por Shapiro, Adam J., Davis, Stephanie D., Leigh, Margaret W., Knowles, Michael R., Lavergne, Valery, Ferkol, Thomas
Publicado 2020

In Vivo Airway Surface Liquid Cl(−) Analysis with Solid-State Electrodes

por Caldwell, Ray A., Grubb, Barbara R., Tarran, Robert, Boucher, Richard C., Knowles, Michael R., Barker, Pierre M.
Publicado 2002

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

por Inaba, Atsushi, Furuhata, Masanori, Morimoto, Kozo, Rahman, Mahbubur, Takahashi, Osamu, Hijikata, Minako, Knowles, Michael R., Keicho, Naoto
Publicado 2019

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

por Shapiro, Adam J., Ferkol, Thomas W., Manion, Michele, Leigh, Margaret W., Davis, Stephanie D., Knowles, Michael R.
Publicado 2020

Lack of correlation between pulmonary disease and cystic fibrosis transmembrane conductance regulator dysfunction in cystic fibrosis: a case report

por Levy, Hara, Cannon, Carolynn L, Asher, Daniel, García, Christopher, Cleveland, Robert H, Pier, Gerald B, Knowles, Michael R, Colin, Andrew A
Publicado 2010

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

por Fossum, Sara L., Mutolo, Michael J., Yang, Rui, Dang, Hong, O'Neal, Wanda K., Knowles, Michael R., Leir, Shih-Hsing, Harris, Ann
Publicado 2014

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

por Lin, Jianfeng, Yin, Weining, Smith, Maria C., Song, Kangkang, Leigh, Margaret W., Zariwala, Maimoona A., Knowles, Michael R., Ostrowski, Lawrence E., Nicastro, Daniela
Publicado 2014

Autosomal dominant variants in FOXJ1 causing primary ciliary dyskinesia in two patients with obstructive hydrocephalus

por Shapiro, Adam J., Kaspy, Kimberley, Daniels, M. Leigh Ann, Stonebraker, Jaclyn R., Nguyen, Van‐Hung, Joyal, Lyne, Knowles, Michael R., Zariwala, Maimoona A.
Publicado 2021

A quality-of-life measure for adults with primary ciliary dyskinesia: QOL–PCD

por Lucas, Jane S., Behan, Laura, Dunn Galvin, Audrey, Alpern, Adrianne, Morris, Anjana M., Carroll, Mary P., Knowles, Michael R., Leigh, Margaret W., Quittner, Alexandra L.
Publicado 2015

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

por Hannah, William B., DeBrosse, Suzanne, Kinghorn, BreAnna, Strausbaugh, Steven, Aitken, Moira L., Rosenfeld, Margaret, Wolf, Whitney E., Knowles, Michael R., Zariwala, Maimoona A.
Publicado 2019

Structural insights into the cause of human RSPH4A primary ciliary dyskinesia

por Zhao, Yanhe, Pinskey, Justine, Lin, Jianfeng, Yin, Weining, Sears, Patrick R., Daniels, Leigh A., Zariwala, Maimoona A., Knowles, Michael R., Ostrowski, Lawrence E., Nicastro, Daniela
Publicado 2021

Analysis of a large cohort of cystic fibrosis patients with severe liver disease indicates lung function decline does not significantly differ from that of the general cystic fibro...

por Polineni, Deepika, Piccorelli, Annalisa V., Hannah, William B., Dalrymple, Sarah N., Pace, Rhonda G., Durie, Peter R., Ling, Simon C., Knowles, Michael R., Stonebraker, Jaclyn R.
Publicado 2018

Identification of Genetic Variants in CFAP221 as a Cause of Primary Ciliary Dyskinesia

por Bustamante-Marin, Ximena M., Shapiro, Adam, Sears, Patrick R., Charng, Wu-Lin, Conrad, Donald F., Leigh, Margaret W., Knowles, Michael R., Ostrowski, Lawrence E., Zariwala, Maimoona A.
Publicado 2019

Early childhood lung function is a stronger predictor of adolescent lung function in cystic fibrosis than early Pseudomonas aeruginosa infection

por Pittman, Jessica E., Noah, Hannah, Calloway, Hollin E., Davis, Stephanie D., Leigh, Margaret W., Drumm, Mitchell, Sagel, Scott D., Accurso, Frank J., Knowles, Michael R., Sontag, Marci K.
Publicado 2017

Mining GWAS and eQTL data for CF lung disease modifiers by gene expression imputation

por Dang, Hong, Polineni, Deepika, Pace, Rhonda G., Stonebraker, Jaclyn R., Corvol, Harriet, Cutting, Garry R., Drumm, Mitchell L., Strug, Lisa J., O’Neal, Wanda K., Knowles, Michael R.
Publicado 2020

Histo-Blood Group Gene Polymorphisms as Potential Genetic Modifiers of Infection and Cystic Fibrosis Lung Disease Severity

por Taylor-Cousar, Jennifer L., Zariwala, Maimoona A., Burch, Lauranell H., Pace, Rhonda G., Drumm, Mitchell L., Calloway, Hollin, Fan, Haiying, Weston, Brent W., Wright, Fred A., Knowles, Michael R.
Publicado 2009

Variation in MSRA Modifies Risk of Neonatal Intestinal Obstruction in Cystic Fibrosis

por Henderson, Lindsay B., Doshi, Vishal K., Blackman, Scott M., Naughton, Kathleen M., Pace, Rhonda G., Moskovitz, Jackob, Knowles, Michael R., Durie, Peter R., Drumm, Mitchell L., Cutting, Garry R.
Publicado 2012

Sperm-Associated Antigen 6 (SPAG6) Deficiency and Defects in Ciliogenesis and Cilia Function: Polarity, Density, and Beat

por Teves, Maria E., Sears, Patrick R., Li, Wei, Zhang, Zhengang, Tang, Waixing, van Reesema, Lauren, Costanzo, Richard M., Davis, C. William, Knowles, Michael R., Strauss, Jerome F., Zhang, Zhibing
Publicado 2014