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Select item 63260771.

Cystic Fibrosis Foundation Practice Guidelines for the Management of Infants with CFTR-Related Metabolic Syndrome during the First Two Years of Life and Beyond

D Borowitz, R Parad, JK Sharp, K Sabadosa, KA Robinson, M Rock, P Farrell, M Sontag, M Rosenfeld, S Davis, B Marshall, F Accurso

J Pediatr. Author manuscript; available in PMC 2019 Jan 9.

Published in final edited form as: J Pediatr. 2009 Dec; 155(6 Suppl): S106–S116. doi: 10.1016/j.jpeds.2009.09.003

PMCID:: PMC6326077

Abstract Article PDF–626K

Select item 60545342.

ERS Task Force guideline for the diagnosis of primary ciliary dyskinesia

JS Lucas, A Barbato, SA Collins, M Goutaki, L Behan, D Caudri, S Dell, E Eber, E Escudier, RA Hirst, C Hogg, M Jorissen, P Latzin, M Legendre, MW Leigh, F Midulla, KG Nielsen, H Omran, JF Papon, P Pohunek, B Redfern, D Rigau, B Rindlisbacher, F Santamaria, A Shoemark, D Snijders, T Tonia, A Titieni, WT Walker, C Werner, A Bush, CE Kuehni

Eur Respir J. Author manuscript; available in PMC 2018 Jul 20.

Published in final edited form as: Eur Respir J. 2017 Jan; 49(1): 1601090. Published online 2017 Jan 4. doi: 10.1183/13993003.01090-2016

PMCID:: PMC6054534

Abstract Article PDF–932K

Select item 19568243.

Cystic fibrosis in adults: the unsuspected pulmonary diagnosis.

A. J. Nolan

Can Med Assoc J. 1976 Jan 24; 114(2): 142–145.

PMCID:: PMC1956824

Summary Page Browse PDF–1.2M

Select item 43790184.

Adult Non-Cystic Fibrosis Bronchiectasis Is Characterised by Airway Luminal Th17 Pathway Activation

Alice C.-H. Chen, Megan L. Martin, Rohan Lourie, Geraint B. Rogers, Lucy D. Burr, Sumaira Z. Hasnain, Simon D. Bowler, Michael A. McGuckin, David J. Serisier

PLoS One. 2015; 10(3): e0119325. Published online 2015 Mar 30. doi: 10.1371/journal.pone.0119325

PMCID:: PMC4379018

Abstract Article PDF–618K

Select item 44893235.

Nonsense Mutation in Coiled-Coil Domain Containing 151 Gene (CCDC151) Causes Primary Ciliary Dyskinesia

Muslim M Alsaadi, A Mesut Erzurumluoglu, Santiago Rodriguez, Philip A I Guthrie, Tom R Gaunt, Hager Z Omar, Mohammad Mubarak, Khalid K Alharbi, Ammar C Al-Rikabi, Ian N M Day

Hum Mutat. 2014 Dec; 35(12): 1446–1448. Published online 2014 Sep 16. doi: 10.1002/humu.22698

PMCID:: PMC4489323

Abstract Article PDF–351K

Select item 44703036.

Gender susceptibility to mycobacterial infections in patients with non-CF bronchiectasis

Mehdi Mirsaeidi, Ruxana T. Sadikot

Int J Mycobacteriol. Author manuscript; available in PMC 2015 Jun 17.

Published in final edited form as: Int J Mycobacteriol. 2015 Jun; 4(2): 92–96. Published online 2015 May 27. doi: 10.1016/j.ijmyco.2015.05.002

PMCID:: PMC4470303

Abstract Article PDF–100K

Select item 44665707.

High Pulmonary Levels of IL-6 and IL-1β in Children with Chronic Suppurative Lung Disease Are Associated with Low Systemic IFN-γ Production in Response to Non-Typeable Haemophilus influenzae

Susan J. Pizzutto, John W. Upham, Stephanie T. Yerkovich, Anne B. Chang

PLoS One. 2015; 10(6): e0129517. Published online 2015 Jun 12. doi: 10.1371/journal.pone.0129517

PMCID:: PMC4466570

Abstract Article PDF–270K

Select item 44283648.

Identification of a novel SERPINA-1 mutation causing alpha-1 antitrypsin deficiency in a patient with severe bronchiectasis and pulmonary embolism

Katrin Milger, Lesca Miriam Holdt, Daniel Teupser, Rudolf Maria Huber, Jürgen Behr, Nikolaus Kneidinger

Int J Chron Obstruct Pulmon Dis. 2015; 10: 891–897. Published online 2015 May 7. doi: 10.2147/COPD.S80173

PMCID:: PMC4428364

Abstract Article PDF–1.6M

Select item 44260769.

Jennifer Cuellar-Rodriguez, Alexandra F. Freeman, Jennifer Grossman, Helen Su, Mark Parta, Heardley Murdock, Nirali Shah, Catherine Bollard, Heidi Kong, Niki Moutsopoulos, Kelly Stone, Juan Gea-Banacloche, Steven M. Holland, Dennis D. Hickstein

Biol Blood Marrow Transplant. Author manuscript; available in PMC 2016 Jun 1.

Published in final edited form as: Biol Blood Marrow Transplant. 2015 Jun; 21(6): 1037–1045. Published online 2015 Jan 27. doi: 10.1016/j.bbmt.2015.01.022

PMCID:: PMC4426076

Abstract Article PDF–706K

Select item 442206110.

Variation in DNAH1 may contribute to primary ciliary dyskinesia

Faiqa Imtiaz, Rabab Allam, Khushnooda Ramzan, Moeenaldeen Al-Sayed

BMC Med Genet. 2015; 16: 14. Published online 2015 Mar 17. doi: 10.1186/s12881-015-0162-5

PMCID:: PMC4422061

Abstract Article PDF–1.9M

Select item 438683411.

Compound Heterozygous CORO1A Mutations in Siblings with a Mucocutaneous-Immunodeficiency Syndrome of Epidermodysplasia Verruciformis-HPV, Molluscum Contagiosum and Granulomatous Tuberculoid Leprosy

Asbjorg Stray-Pedersen, Emmanuelle Jouanguy, Amandine Crequer, Alison A. Bertuch, Betty S. Brown, Shalini N. Jhangiani, Donna M. Muzny, Tomasz Gambin, Hanne Sorte, Ghadir Sasa, Denise Metry, Judith Campbell, Marianna M. Sockrider, Megan K. Dishop, David M. Scollard, Richard A. Gibbs, Emily M. Mace, Jordan S. Orange, James R. Lupski, Jean-Laurent Casanova, Lenora M. Noroski

J Clin Immunol. Author manuscript; available in PMC 2015 Apr 6.

Published in final edited form as: J Clin Immunol. 2014 Oct; 34(7): 871–890. Published online 2014 Jul 30. doi: 10.1007/s10875-014-0074-8

PMCID:: PMC4386834

Abstract Article PDF–1.6M

Select item 449107012.

Healthy twin live-birth after ionophore treatment in a case of theophylline-resistant Kartagener syndrome

T. Ebner, M. Maurer, P. Oppelt, R. B. Mayer, H. C. Duba, W. Costamoling, O. Shebl

J Assist Reprod Genet. 2015 Jun; 32(6): 873–877. Published online 2015 May 10. doi: 10.1007/s10815-015-0486-2

PMCID:: PMC4491070

Abstract Article PDF–238K

Select item 436977413.

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

Adam J. Shapiro, Sue Tolleson-Rinehart, Maimoona A. Zariwala, Michael R. Knowles, Margaret W. Leigh

Cardiol Young. Author manuscript; available in PMC 2015 Apr 1.

Published in final edited form as: Cardiol Young. 2015 Apr; 25(4): 752–759. Published online 2014 Jun 6. doi: 10.1017/S1047951114000912

PMCID:: PMC4369774

Abstract Article PDF–504K

Select item 435157714.

Clinical Features of Childhood Primary Ciliary Dyskinesia by Genotype and Ultrastructural Phenotype

Stephanie D. Davis, Thomas W. Ferkol, Margaret Rosenfeld, Hye-Seung Lee, Sharon D. Dell, Scott D. Sagel, Carlos Milla, Maimoona A. Zariwala, Jessica E. Pittman, Adam J. Shapiro, Johnny L. Carson, Jeffrey P. Krischer, Milan J. Hazucha, Matthew L. Cooper, Michael R. Knowles, Margaret W. Leigh

Am J Respir Crit Care Med. 2015 Feb 1; 191(3): 316–324. Published online 2015 Feb 1. doi: 10.1164/rccm.201409-1672OC

PMCID:: PMC4351577

Abstract Article PDF–673K

Select item 430513715.

Adenovirus Species C Is Associated With Chronic Suppurative Lung Diseases in Children

Danielle F. Wurzel, Ian M. Mackay, Julie M. Marchant, Claire Y. T. Wang, Stephanie T. Yerkovich, John W. Upham, Heidi C. Smith-Vaughan, Helen L. Petsky, Anne B. Chang

Clin Infect Dis. 2014 Jul 1; 59(1): 34–40. Published online 2014 Apr 18. doi: 10.1093/cid/ciu225

PMCID:: PMC4305137

Abstract Article PDF–195K

Select item 429840316.

Low ficolin-2 levels in common variable immunodeficiency patients with bronchiectasis

M-L Metzger, I Michelfelder, S Goldacker, K Melkaoui, J Litzman, D Guzman, B Grimbacher, U Salzer

Clin Exp Immunol. 2015 Feb; 179(2): 256–264. Published online 2015 Jan 2. doi: 10.1111/cei.12459

PMCID:: PMC4298403

Abstract Article PDF–331K

Select item 428589117.

Recent advances in primary ciliary dyskinesia genetics

Małgorzata Kurkowiak, Ewa Ziętkiewicz, Michał Witt

J Med Genet. 2015 Jan; 52(1): 1–9. Published online 2014 Oct 28. doi: 10.1136/jmedgenet-2014-102755

PMCID:: PMC4285891

Abstract Article PDF–1.2M

Select item 427443018.

Predominant pathogen competition and core microbiota divergence in chronic airway infection

Geraint B Rogers, Christopher J van der Gast, David J Serisier

ISME J. 2015 Jan; 9(1): 217–225. Published online 2014 Jul 18. doi: 10.1038/ismej.2014.124

PMCID:: PMC4274430

Abstract Article PDF–1.2M

Select item 450477719.

IL2RG Reversion Event in a Common Lymphoid Progenitor Leads to Delayed Diagnosis and Milder Phenotype

Amy P. Hsu, Stefania Pittaluga, Bianca Martinez, Amy P. Rump, Mark Raffeld, Gulbu Uzel, Jennifer M. Puck, Alexandra F. Freeman, Steven M. Holland

J Clin Immunol. Author manuscript; available in PMC 2016 Jul 1.

Published in final edited form as: J Clin Immunol. 2015 Jul; 35(5): 449–453. Published online 2015 Jun 17. doi: 10.1007/s10875-015-0174-0

PMCID:: PMC4504777

Abstract Article PDF–989K

Select item 452833320.

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

Christian R. Marshall, Stephen W. Scherer, Maimoona A. Zariwala, Lynette Lau, Tara A. Paton, Tracy Stockley, Rebekah K. Jobling, Peter N. Ray, Michael R. Knowles, FORGE Canada Consortium, David A. Hall, Sharon D. Dell, Raymond H. Kim

G3 (Bethesda) 2015 Aug; 5(8): 1775–1781. Published online 2015 Jul 2. doi: 10.1534/g3.115.019851

PMCID:: PMC4528333

Abstract Article PDF–705K

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