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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 110116992.

Advancing Primary Ciliary Dyskinesia Diagnosis through High-Speed Video Microscopy Analysis

Wilfredo De Jesús-Rojas, Zachary J. Demetriou, José Muñiz-Hernández, Gabriel Rosario-Ortiz, Frances M. Quiñones, Marcos J. Ramos-Benitez, Ricardo A. Mosquera

Cells. 2024 Apr; 13(7): 567. Published online 2024 Mar 24. doi: 10.3390/cells13070567

PMCID:: PMC11011699

Abstract Article PDF–2.0M

Select item 109778133.

Cystic Lung Changes, Bronchiectasis, and a Heterozygous-Primary Ciliary Dyskinesia-Associated Variant in the DNAH5 Gene: A Diagnostic Challenge

Manal Albalawi, Abdullah Al-Shamrani, Ahmed Sarar Mohamed, Sarar Mohamed

Am J Case Rep. 2024; 25: e942444-1–e942444-5. Published online 2024 Mar 24. doi: 10.12659/AJCR.942444

PMCID:: PMC10977813

Abstract Article PDF–625K

Select item 109304894.

原发性纤毛运动障碍的临床表型

雷诚, 王荣春, 杨丹晖, 郭婷, 罗红

Zhong Nan Da Xue Xue Bao Yi Xue Ban. 2022 Jan 28; 47(1): 116–122. Chinese. doi: 10.11817/j.issn.1672-7347.2022.210379

PMCID:: PMC10930489

Abstract Article PDF–599K

Select item 107546095.

Dual-allele heterozygous mutation of DNAH5 gene in a boy with primary ciliary dyskinesia: A case report

Yu Shi, Qihong Lei, Qing Han

Medicine (Baltimore) 2023 Dec 29; 102(52): e36271. Published online 2023 Dec 29. doi: 10.1097/MD.0000000000036271

PMCID:: PMC10754609

Abstract Article PDF–744K

Select item 107156166.

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 106703497.

Ciliary Ultrastructure Assessed by Transmission Electron Microscopy in Adults with Bronchiectasis and Suspected Primary Ciliary Dyskinesia but Inconclusive Genotype

Ben O. Staar, Jan Hegermann, Bernd Auber, Raphael Ewen, Sandra von Hardenberg, Ruth Olmer, Isabell Pink, Jessica Rademacher, Martin Wetzke, Felix C. Ringshausen

Cells. 2023 Nov; 12(22): 2651. Published online 2023 Nov 18. doi: 10.3390/cells12222651

PMCID:: PMC10670349

Abstract Article PDF–8.8M

Select item 104567478.

Nonfamilial VACTERL-H Syndrome in a Dizygotic Twin: Prenatal Ultrasound and Postnatal 3D CT Findings

Seol Young Hong, Soo Jung Kim, Mi-Hye Park, Kyung A. Lee

Medicina (Kaunas) 2023 Aug; 59(8): 1387. Published online 2023 Jul 28. doi: 10.3390/medicina59081387

PMCID:: PMC10456747

Abstract Article PDF–15M

Select item 104047059.

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 1039323610.

The effect of Dnaaf5 gene dosage on primary ciliary dyskinesia phenotypes

Amjad Horani, Deepesh Kumar Gupta, Jian Xu, Huihui Xu, Lis del Carmen Puga-Molina, Celia M. Santi, Sruthi Ramagiri, Steven K. Brennan, Jiehong Pan, Jeffrey R. Koenitzer, Tao Huang, Rachael M. Hyland, Sean P. Gunsten, Shin-Cheng Tzeng, Jennifer M. Strahle, Pleasantine Mill, Moe R. Mahjoub, Susan K. Dutcher, Steven L. Brody

JCI Insight. 2023 Jun 8; 8(11): e168836. Published online 2023 Jun 8. doi: 10.1172/jci.insight.168836

PMCID:: PMC10393236

Abstract Article PDF–10M

Select item 1033040511.

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 1032138812.

Congenital heart defects caused by FOXJ1

Maria B Padua, Benjamin M Helm, John R Wells, Amanda M Smith, Helen M Bellchambers, Arthi Sridhar, Stephanie M Ware

Hum Mol Genet. 2023 Jul 15; 32(14): 2335–2346. Published online 2023 May 9. doi: 10.1093/hmg/ddad065

PMCID:: PMC10321388

Abstract Article PDF–1.6M

Select item 1023818313.

Guodong Hong, Xiaolong Fu, Xin Chen, Liyan Zhang, Xuan Han, Shuqin Ding, Ziyi Liu, Xiuli Bi, Wen Li, Miao Chang, Ruifeng Qiao, Siwei Guo, Hailong Tu, Renjie Chai

Adv Sci (Weinh) 2023 Jun; 10(16): 2205754. Published online 2023 Apr 17. doi: 10.1002/advs.202205754

PMCID:: PMC10238183

Abstract Article PDF–11M

Select item 1022490214.

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 1022489515.

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 1011240016.

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 999315817.

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 991572318.

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 980855419.

A novel biallelic loss-of-function variant in DAND5 causes heterotaxy syndrome

Mythily Ganapathi, Christie M. Buchovecky, Fernando Cristo, Priyanka Ahimaz, Carrie Ruzal-Shapiro, Karen Wou, José M. Inácio, Alejandro Iglesias, José A. Belo, Vaidehi Jobanputra

Cold Spring Harb Mol Case Stud. 2022 Dec; 8(7): a006248. doi: 10.1101/mcs.a006248

PMCID:: PMC9808554

Abstract Article PDF–1.2M

Select item 977685420.

Multiomics Analysis of a DNAH5-Mutated PCD Organoid Model Revealed the Key Role of the TGF-β/BMP and Notch Pathways in Epithelial Differentiation and the Immune Response in DNAH5-Mutated Patients

Wenhao Yang, Lina Chen, Juncen Guo, Fang Shi, Qingxin Yang, Liang Xie, Danli Lu, Yingna Li, Jiaxin Luo, Li Wang, Li Qiu, Ting Chen, Yan Li, Rui Zhang, Lu Chen, Wenming Xu, Hanmin Liu

Cells. 2022 Dec; 11(24): 4013. Published online 2022 Dec 12. doi: 10.3390/cells11244013

PMCID:: PMC9776854

Abstract Article PDF–4.3M

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