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Select item 60545341.

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 107746502.

Diagnosis of Primary Ciliary Dyskinesia via Whole Exome Sequencing and Histologic Findings

Jiyoung Oh, Jin-Sung Lee, Moo Suk Park, Young Ae Kang, Hyung-Ju Cho, Song Yee Kim, Jinsei Jung, Sun Och Yoon, Kyung Won Kim

Yonsei Med J. 2024 Jan; 65(1): 48–54. Published online 2023 Dec 13. doi: 10.3349/ymj.2023.0238

PMCID:: PMC10774650

Abstract Article PDF–323K

Select item 107156163.

Identification of a novel splice site mutation in the DNAAF4 gene of a Chinese patient with primary ciliary dyskinesia

Yang Xu, Jing Wang, Ji-Hai Liu, Qing-Qiang Gao, Bing Wang, Zhi-Peng Xu

Asian J Androl. 2023 Nov-Dec; 25(6): 713–718. Published online 2023 Apr 28. doi: 10.4103/aja2022122

PMCID:: PMC10715616

Abstract Article PDF–3.9M

Select item 104960494.

A novel heterozygous variant of FOXJ1 in a Chinese female with primary ciliary dyskinesia and hydrocephalus: A case report and literature review

Shiyang Gao, Qianwen Zhang, Biyun Feng, Shili Gu, Zhiying Li, Lianping Sun, Ru‐en Yao, Tingting Yu, Yu Ding, Xiumin Wang

Mol Genet Genomic Med. 2023 Sep; 11(9): e2235. Published online 2023 Jul 19. doi: 10.1002/mgg3.2235

PMCID:: PMC10496049

Abstract Article PDF–1.2M

Select item 104047055.

Siewert–Kartagener’s syndrome in a dog

Rankyung Jung, Jihye Choi, Hyeona Bae, Dong-In Jung, Kyoung-Oh Cho, DoHyeon Yu

J Vet Sci. 2023 Jul; 24(4): e57. Published online 2023 Jul 7. doi: 10.4142/jvs.23029

PMCID:: PMC10404705

Abstract Article PDF–6.4M

Select item 103304056.

First reports of primary ciliary dyskinesia caused by a shared DNAH11 allele in Canadian Inuit

Julia Hunter‐Schouela, Michael T. Geraghty, Robert A. Hegele, David A. Dyment, David St Pierre, Julie Richer, Holden Sheffield, Maimoona A. Zariwala, Michael R. Knowles, Anna Lehman, Sharon Dell, Adam J. Shapiro, Thomas A. Kovesi

Pediatr Pulmonol. Author manuscript; available in PMC 2023 Jul 10.

Published in final edited form as: Pediatr Pulmonol. 2023 Jul; 58(7): 1942–1949. Published online 2023 Apr 23. doi: 10.1002/ppul.26414

PMCID:: PMC10330405

Abstract Article PDF–847K

Select item 102249027.

Characterization of a DRC1 null variant associated with primary ciliary dyskinesia and female infertility

R. Pereira, V. Carvalho, C. Dias, T. Barbosa, J. Oliveira, Â. Alves, E. Oliveira, R. Sá, M. Sousa

J Assist Reprod Genet. 2023 Apr; 40(4): 765–778. Published online 2023 Mar 1. doi: 10.1007/s10815-023-02755-6

PMCID:: PMC10224902

Abstract Article PDF–2.4M

Select item 102248958.

Successful ART outcome with donor oocytes in female Kartagener’s syndrome: a case report and follow-up

Sasikala Natarajamani, Rajapriya Ayyappan, Archana Manikere

J Assist Reprod Genet. 2023 Apr; 40(4): 779–782. Published online 2023 Apr 14. doi: 10.1007/s10815-023-02794-z

PMCID:: PMC10224895

Abstract Article PDF–437K

Select item 101124009.

Airway Disease in Children with Primary Ciliary Dyskinesia: Impact of Ciliary Ultrastructure Defect and Genotype

BreAnna Kinghorn, Margaret Rosenfeld, Erin Sullivan, Frankline Onchiri, Thomas W. Ferkol, Scott D. Sagel, Sharon D. Dell, Carlos Milla, Adam J. Shapiro, Kelli M. Sullivan, Maimoona A. Zariwala, Jessica E. Pittman, Federico Mollica, Harm A. W. M. Tiddens, Mariette Kemner-van de Corput, Michael R. Knowles, Stephanie D. Davis, Margaret W. Leigh

Ann Am Thorac Soc. 2023 Apr 1; 20(4): 539–547. Published online 2023 Apr 1. doi: 10.1513/AnnalsATS.202206-524OC

PMCID:: PMC10112400

Abstract Article PDF–952K

Select item 1004850310.

Primary Ciliary Dyskinesia in a Portuguese Bronchiectasis Outpatient Clinic

Eduarda Milheiro Tinoco, Ana Rita Gigante, Edite Ferreira, Inês Sanches, Rute Pereira, Rosália Sá, Regina Monteiro, Mário Sousa, Ivone Pascoal

Genes (Basel) 2023 Mar; 14(3): 541. Published online 2023 Feb 21. doi: 10.3390/genes14030541

PMCID:: PMC10048503

Abstract Article PDF–1.1M

Select item 999315811.

Laterality Defects in Primary Ciliary Dyskinesia: Relationship to Ultrastructural Defect or Genotype

Andrew T. Barber, Adam J. Shapiro, Stephanie D. Davis, Thomas W. Ferkol, Jeffrey J. Atkinson, Scott D. Sagel, Sharon D. Dell, Kenneth N. Olivier, Carlos E. Milla, Margaret Rosenfeld, Lang Li, Feng-Chang Lin, Kelli M. Sullivan, Nicole A. Capps, Maimoona A. Zariwala, Michael R. Knowles, Margaret W. Leigh

Ann Am Thorac Soc. 2023 Mar 1; 20(3): 397–405. Published online 2023 Mar 1. doi: 10.1513/AnnalsATS.202206-487OC

PMCID:: PMC9993158

Abstract Article PDF–631K

Select item 991572312.

The RSPH4A Gene in Primary Ciliary Dyskinesia

Wilfredo De Jesús-Rojas, Jesús Meléndez-Montañez, José Muñiz-Hernández, André Marra-Nazario, Francisco Alvarado-Huerta, Arnaldo Santos-López, Marcos J. Ramos-Benitez, Ricardo A. Mosquera

Int J Mol Sci. 2023 Feb; 24(3): 1936. Published online 2023 Jan 18. doi: 10.3390/ijms24031936

PMCID:: PMC9915723

Abstract Article PDF–3.9M

Select item 963364013.

The inner junction protein CFAP20 functions in motile and non-motile cilia and is critical for vision

Paul W. Chrystal, Nils J. Lambacher, Lance P. Doucette, James Bellingham, Elena R. Schiff, Nicole C. L. Noel, Chunmei Li, Sofia Tsiropoulou, Geoffrey A. Casey, Yi Zhai, Nathan J. Nadolski, Mohammed H. Majumder, Julia Tagoe, Fabiana D’Esposito, Maria Francesca Cordeiro, Susan Downes, Jill Clayton-Smith, Jamie Ellingford, Genomics England Research Consortium, Omar A. Mahroo, Jennifer C. Hocking, Michael E. Cheetham, Andrew R. Webster, Gert Jansen, Oliver E. Blacque, W. Ted Allison, Ping Yee Billie Au, Ian M. MacDonald, Gavin Arno, Michel R. Leroux

Nat Commun. 2022; 13: 6595. Published online 2022 Nov 3. doi: 10.1038/s41467-022-33820-w

PMCID:: PMC9633640

Abstract Article PDF–8.7M

Select item 932428914.

Challenges in Diagnosing Primary Ciliary Dyskinesia in a Brazilian Tertiary Hospital

Mariana Dalbo Contrera Toro, José Dirceu Ribeiro, Fernando Augusto Lima Marson, Érica Ortiz, Adyléia Aparecida Dalbo Contrera Toro, Carmen Silvia Bertuzzo, Marcus Herbert Jones, Eulália Sakano

Genes (Basel) 2022 Jul; 13(7): 1252. Published online 2022 Jul 15. doi: 10.3390/genes13071252

PMCID:: PMC9324289

Abstract Article PDF–993K

Select item 930052615.

Fetal ciliopathies: a retrospective observational single-center study

Corinna Simonini, Anne Floeck, Brigitte Strizek, Andreas Mueller, Ulrich Gembruch, Annegret Geipel

Arch Gynecol Obstet. 2022; 306(1): 71–83. Published online 2021 Oct 1. doi: 10.1007/s00404-021-06265-7

PMCID:: PMC9300526

Abstract Article PDF–1.4M

Select item 929047016.

A novel heterotaxy gene: Expansion of the phenotype of TTC21B‐spectrum disease

Alanna Strong, Dong Li, Frank Mentch, Hakon Hakonarson

Am J Med Genet A. 2021 Apr; 185(4): 1266–1269. Published online 2021 Feb 5. doi: 10.1002/ajmg.a.62093

PMCID:: PMC9290470

Abstract Article PDF–643K

Select item 870214117.

CCDC40 mutation as a cause of infertility in a Chinese family with primary ciliary dyskinesia

Li Liu, Kechong Zhou, Yuxuan Song, Xiaoqiang Liu

Medicine (Baltimore) 2021 Dec 23; 100(51): e28275. Published online 2021 Dec 23. doi: 10.1097/MD.0000000000028275

PMCID:: PMC8702141

Abstract Article PDF–1009K

Select item 851497718.

Higher throughput drug screening for rare respiratory diseases: readthrough therapy in primary ciliary dyskinesia

Dani Do Hyang Lee, Daniela Cardinale, Ersilia Nigro, Colin R. Butler, Andrew Rutman, Mahmoud R. Fassad, Robert A. Hirst, Dale Moulding, Alexander Agrotis, Elisabeth Forsythe, Daniel Peckham, Evie Robson, Claire M. Smith, Satyanarayana Somavarapu, Philip L. Beales, Stephen L. Hart, Sam M. Janes, Hannah M. Mitchison, Robin Ketteler, Robert E. Hynds, Christopher O'Callaghan

Eur Respir J. 2021 Oct; 58(4): 2000455. Published online 2021 Oct 14. doi: 10.1183/13993003.00455-2020

PMCID:: PMC8514977

Abstract Article PDF–1.8M

Select item 837209019.

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

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

Mol Genet Genomic Med. 2021 Jul; 9(7): e1726. Published online 2021 Jun 15. doi: 10.1002/mgg3.1726

PMCID:: PMC8372090

Abstract Article PDF–730K

Select item 812972520.

Clinical and Genetic Spectrum of Children With Primary Ciliary Dyskinesia in China

Yuhong Guan, Haiming Yang, Xingfeng Yao, Hui Xu, Hui Liu, Xiaolei Tang, Chanjuan Hao, Xiang Zhang, Shunying Zhao, Wentong Ge, Xin Ni

Chest. 2021 May; 159(5): 1768–1781. Published online 2021 Feb 10. doi: 10.1016/j.chest.2021.02.006

PMCID:: PMC8129725

Abstract Article PDF–1.6M

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