Works matching DE "CILIARY motility disorders"

Results: 538

Unveiling Kartageners Syndrome in a Young Male: A Case Report.
Published in:
Journal of Clinical & Diagnostic Research, 2025, v. 19, n. 2, p. 31, doi. 10.7860/JCDR/2025/72729.20657
By:
- NEGANDHI, PRIYANKA KALPESH;
- ACHARYA, SOURYA;
- BATRA, NITISH;
- ULLA KHAN, MOHD FAIZAN;
- SHAIKH, RAHIL
Publication type:
Article
Incidence rate, clinical profile, and outcomes of COVID-19 in adults with non-cystic fibrosis bronchiectasis.
Published in:
Brazilian Journal of Pulmonology / Jornal Brasileiro de Pneumologia, 2025, v. 51, n. 1, p. 1, doi. 10.36416/1806-3756/e20240258
By:
- Camargo, Cristiane Christ;
- Schmitz, Fernanda de Miranda;
- Jacobsen, Letícia Bauer;
- Ziegler, Bruna;
- Roth Dalcin, Paulo de Tarso
Publication type:
Article
Genetic spectrum and genotype–phenotype correlations in DNAH5-mutated primary ciliary dyskinesia: a systematic review.
Published in:
Orphanet Journal of Rare Diseases, 2025, v. 20, n. 1, p. 1, doi. 10.1186/s13023-025-03596-5
By:
- Dong, Meihua;
- Shi, Xu;
- Zhou, Yawen;
- Duan, Jielin;
- He, Li;
- Song, Xiaonan;
- Huang, Zhiwen;
- Chen, Ruchong;
- Li, Jing;
- Jia, Nan
Publication type:
Article
A Pilot Study of Primary Ciliary Dyskinesia: Sleep-Related Disorders and Neuropsychiatric Comorbidities.
Published in:
Journal of Clinical Medicine, 2025, v. 14, n. 4, p. 1353, doi. 10.3390/jcm14041353
By:
- Cardona-Quiñones, Roberto A.;
- Ramírez-Rivera, Edicer;
- Álvarez-Torres, Edwin;
- Salem-Hernández, Saidy A.;
- Vargas-Pérez, Noel J.;
- De Jesús-Rojas, Wilfredo
Publication type:
Article
Autopsy Observations in Lethal Short-Rib Polydactyly Syndromes.
Published in:
Pediatric & Developmental Pathology, 2015, v. 18, n. 1, p. 40, doi. 10.2350/14-05-1496-OA.1
By:
- OKIRO, PATRICIA;
- WAINWRIGHT, HELEN;
- SPRANGER, JÜRGEN;
- BEIGHTON, PETER
Publication type:
Article
Ciliary Inclusion Disease: Report of a New Primary Ciliary Dyskinesia Variant.
Published in:
Pediatric & Developmental Pathology, 2014, v. 17, n. 6, p. 465, doi. 10.2350/14-06-1504-OA.1
By:
- WARTCHOW, ERIC P.;
- JAFFE, RONALD;
- MIERAU, GARY W.
Publication type:
Article
Impact of Cilia Ultrastructural Examination on the Diagnosis of Primary Ciliary Dyskinesia.
Published in:
Pediatric & Developmental Pathology, 2013, v. 16, n. 5, p. 321, doi. 10.2350/13-03-1317-OA.1
By:
- SIMONEAU, TREGONY;
- ZANDIEH, STEPHANIE O.;
- RAO, DEVIKA R.;
- PHUONG VO;
- PALM, KARA E.;
- MCCOWN, MICHAEL;
- KOPEL, LIANNE S.;
- DIAS, ALLAN;
- CASEY, ALICIA;
- PEREZ-ATAYDE, ANTONIO R.;
- ZHAOHUI ZHONG;
- GRAHAM, DIONNE;
- VARGAS, SARA O.
Publication type:
Article
Proliferation associated 2G4 is required for the ciliation of vertebrate motile cilia.
Published in:
Communications Biology, 2024, v. 7, n. 1, p. 1, doi. 10.1038/s42003-024-07150-0
By:
- Lee, Moonsup;
- Carpenter, Christina;
- Hwang, Yoo-Seok;
- Yoon, Jaeho;
- Lu, Quanlong;
- Westlake, Christopher J.;
- Moody, Sally A.;
- Yamaguchi, Terry P.;
- Daar, Ira O.
Publication type:
Article
Fibroadenoma Excision under Thoracic Segmental Spinal Anaesthesia in Isolated Situs Inversus Totalis: A Case Report.
Published in:
Archives of Anesthesiology & Critical Care, 2023, v. 9, n. 1, p. 64
By:
- Deshpande, Jyoti;
- Jacob, Merlin Elizabeth
Publication type:
Article
Biallelic DNAH9 mutations are identified in Chinese patients with defective left–right patterning and cilia-related complex congenital heart disease.
Published in:
Human Genetics, 2022, v. 141, n. 8, p. 1339, doi. 10.1007/s00439-021-02426-5
By:
- Chen, Weicheng;
- Zhang, Yuan;
- Shen, Libing;
- Zhu, Jialiang;
- Cai, Ke;
- Lu, Zhouping;
- Zeng, Weijia;
- Zhao, Jianyuan;
- Zhou, Xiangyu
Publication type:
Article
Bi-allelic BRWD1 variants cause male infertility with asthenoteratozoospermia and likely primary ciliary dyskinesia.
Published in:
Human Genetics, 2021, v. 140, n. 5, p. 761, doi. 10.1007/s00439-020-02241-4
By:
- Guo, Ting;
- Tu, Chao-Feng;
- Yang, Dan-Hui;
- Ding, Shui-Zi;
- Lei, Cheng;
- Wang, Rong-Chun;
- Liu, Lv;
- Kang, Xi;
- Shen, Xiao-Qing;
- Yang, Yi-Feng;
- Tan, Zhi-Ping;
- Tan, Yue-Qiu;
- Luo, Hong
Publication type:
Article
An exome-first approach to aid in the diagnosis of primary ciliary dyskinesia.
Published in:
Human Genetics, 2020, v. 139, n. 10, p. 1273, doi. 10.1007/s00439-020-02170-2
By:
- Shamseldin, Hanan E.;
- Al Mogarri, Ibrahim;
- Alqwaiee, Mansour M.;
- Alharbi, Adel S.;
- Baqais, Khaled;
- AlSaadi, Muslim;
- AlAnzi, Talal;
- Alhashem, Amal;
- Saghier, Afaf;
- Ameen, Waleed;
- Ibrahim, Niema;
- Yang, Jason;
- Abdulwahab, Firdous;
- Hashem, Mais;
- Chivukula, Raghu R.;
- Alkuraya, Fowzan S.
Publication type:
Article
YOUNG MAN WITH PRODUCTIVE COUGH AND RIGHT SIDED HEART.
Published in:
Pakistan Heart Journal, 2022, v. 55, n. 1, p. 96, doi. 10.47144/phj.v55i1.2261
By:
- Hameed, Imran
Publication type:
Article
Novel pathogenic variants of DNAH5 associated with clinical and genetic spectra of primary ciliary dyskinesia in an Arab population.
Published in:
Frontiers in Genetics, 2024, p. 1, doi. 10.3389/fgene.2024.1396797
By:
- Al-Mutairi, Dalal A.;
- Alsabah, Basel H.;
- Pennekamp, Petra;
- Omran, Heymut
Publication type:
Article
A Biallelic Mutation in CCDC103 Impairs Sperm Motility due to the Absence of Dynein Arms.
Published in:
Andrologia, 2024, v. 2024, p. 1, doi. 10.1155/2024/6673310
By:
- Yi Yu;
- Jin-De Zhu;
- Peng-Fei Liu;
- Ming-Wei Zhan;
- Bang-Xu Zheng;
- Yu-Qi Lai;
- Ke-Rong Wu;
- Xue-Jun Shang
Publication type:
Article
A report of pregnancy following ICSI in one of two sisters with familiar primary ciliary dyskinesia.
Published in:
Andrologia, 2021, v. 53, n. 7, p. 1, doi. 10.1111/and.14080
By:
- Akbarian, Fahimeh;
- Tavalaee, Marziyeh;
- Sherkat, Roya;
- Shahrooei, Mohammad;
- Nasr‐Esfahani, Mohammad Hossein
Publication type:
Article
Two Pediatric Cases of Primary Ciliary Dyskinesia Caused by Loss‐of‐Function Variants in Oral‐Facial‐Digital Syndrome Gene, OFD1.
Published in:
2024
By:
- Xu, Yifei;
- Tsurinaga, Yuki;
- Matsumoto, Tsubasa;
- Muta, Ryuji;
- Yano, Taichi;
- Sakaida, Hiroshi;
- Masuda, Sawako;
- Ueda, Koki;
- Feng, Guofei;
- Gotoh, Shimpei;
- Ogawa, Satoru;
- Ikejiri, Makoto;
- Nakatani, Kaname;
- Nagao, Mizuho;
- Tanabe, Masaki;
- Takeuchi, Kazuhiko;
- Das, Sofia Priyadarsani
Publication type:
Case Study
Age-related cerebral ventriculomegaly occurs in patients with primary ciliary dyskinesia.
Published in:
Fluids & Barriers of the CNS, 2025, v. 22, n. 1, p. 1, doi. 10.1186/s12987-024-00614-9
By:
- Eisenhuth, Franziska;
- Agbonze, Joy E.;
- Groh, Adam M. R.;
- Klostranec, Jesse M.;
- Rudko, David A.;
- Stratton, Jo Anne;
- Shapiro, Adam J.
Publication type:
Article
Linking the Primary Cilium to Cell Migration in Tissue Repair and Brain Development.
Published in:
BioScience, 2014, v. 64, n. 12, p. 1115, doi. 10.1093/biosci/biu179
By:
- Veland, Iben Rønn;
- Lindbæk, Louise;
- Christensen, Søren Tvorup
Publication type:
Article
Cilia and Diseases.
Published in:
BioScience, 2014, v. 64, n. 12, p. 1126, doi. 10.1093/biosci/biu174
By:
- Brown, Jason M.;
- Witman, George B.
Publication type:
Article
Novel HYDIN variants associated with male infertility in two Chinese families.
Published in:
Frontiers in Endocrinology, 2023, v. 13, p. 1, doi. 10.3389/fendo.2023.1118841
By:
- Hui Yu;
- Xiao Shi;
- Zhongmei Shao;
- Hao Geng;
- Senzhao Guo;
- Kuokuo Li;
- Meng Gu;
- Chuan Xu;
- Yang Gao;
- Qing Tan;
- Zongliu Duan;
- Huan Wu;
- Rong Hua;
- Rui Guo;
- Zhaolian Wei;
- Ping Zhou;
- Yunxia Cao;
- Xiaojin He;
- Liang Li;
- Xiaoping Zhang
Publication type:
Article
Cystic Lung Changes, Bronchiectasis, and a Heterozygous-Primary Ciliary Dyskinesia-Associated Variant in the DNAH5 Gene: A Diagnostic Challenge.
Published in:
American Journal of Case Reports, 2024, v. 25, p. 1, doi. 10.12659/AJCR.942444
By:
- Albalawi, Manal;
- Al-Shamrani, Abdullah;
- Mohamed, Ahmed Sarar;
- Mohamed, Sarar
Publication type:
Article
Histologic characterization of primary ciliary dyskinesia chronic rhinosinusitis.
Published in:
International Forum of Allergy & Rhinology, 2024, v. 14, n. 5, p. 990, doi. 10.1002/alr.23303
By:
- Sulgi Kim;
- Lang Li;
- Feng-Chang Lin;
- Stack, Taylor;
- Lamb, Meredith M.;
- Mohammad, Ibtisam;
- Norris, Meghan;
- Klatt-Cromwell, Cristine;
- Thorp, Brian D.;
- Ebert Jr., Charles S.;
- Masters, Daniel;
- Senior, Brent A.;
- Askin, Frederic B.;
- Kimple, Adam J.
Publication type:
Article
Primary ciliary dyskinesia: An update on contemporary diagnosis.
Published in:
International Forum of Allergy & Rhinology, 2024, v. 14, n. 4, p. 866, doi. 10.1002/alr.23254
By:
- Chaskes, Mark B.;
- Lopez, Erin Mamuyac;
- Kong, K. Albert;
- Ebert, Charles S.;
- Senior, Brent A.;
- Thorp, Brian D.;
- Kimple, Adam J.
Publication type:
Article
Response to letter to the editor regarding "Sinonasal quality of life in primary ciliary dyskinesia".
Published in:
International Forum of Allergy & Rhinology, 2024, v. 14, n. 3, p. 749, doi. 10.1002/alr.23297
By:
- Stack, Taylor J.;
- Norris, Meghan;
- Mohammad, Ibtisam;
- Thorp, Brian D.;
- Klatt‐Cromwell, Christine;
- Ebert, Charles S.;
- Senior, Brent A.;
- Kimple, Adam J.
Publication type:
Article
Letter to the editor regarding "Sinonasal quality of life in primary ciliary dyskinesia".
Published in:
International Forum of Allergy & Rhinology, 2024, v. 14, n. 3, p. 747, doi. 10.1002/alr.23296
By:
- Cohen, William G.;
- Venkatesh, Sanjena;
- Rizzi, Mark D.;
- Buzi, Adva
Publication type:
Article
Sinonasal quality of life in primary ciliary dyskinesia.
Published in:
International Forum of Allergy & Rhinology, 2023, v. 13, n. 11, p. 2101, doi. 10.1002/alr.23180
By:
- Stack, Taylor;
- Norris, Meghan;
- Kim, Sulgi;
- Lamb, Meredith;
- Zeatoun, Abdullah;
- Mohammad, Ibtisam;
- Worden, Cameron;
- Thorp, Brian D.;
- Klatt‐Cromwell, Christine;
- Ebert, Charles S.;
- Senior, Brent A.;
- Kimple, Adam J.
Publication type:
Article
Relationship between health literacy and disease‐specific quality of life in patients with sinonasal disease.
Published in:
International Forum of Allergy & Rhinology, 2023, v. 13, n. 3, p. 277, doi. 10.1002/alr.23082
By:
- Zeatoun, Abdullah;
- Makutonin, Miryam;
- Farquhar, Douglas;
- Berk, Garret A.;
- Chaskes, Mark;
- Kong, Keonho A.;
- Thorp, Brian D.;
- Senior, Brent A.;
- Kimple, Adam J.;
- Ebert, Charles S.
Publication type:
Article
Cerebral Polymorphisms for Lateralisation: Modelling the Genetic and Phenotypic Architectures of Multiple Functional Modules.
Published in:
Symmetry (20738994), 2022, v. 14, n. 4, p. N.PAG, doi. 10.3390/sym14040814
By:
- McManus, Chris
Publication type:
Article
Primary ciliary dyskinesia: mechanisms and management.
Published in:
Application of Clinical Genetics, 2017, v. 10, p. 67, doi. 10.2147/tacg.s127129
By:
- Damseh, Nadirah;
- Quercia, Nada;
- Rumman, Nisreen;
- Dell, Sharon D.;
- Kim, Raymond H.
Publication type:
Article
Impaired Growth during Childhood in Patients with Primary Ciliary Dyskinesia.
Published in:
International Journal of Endocrinology, 2013, p. 1, doi. 10.1155/2013/731423
By:
- Svobodová, Tamara;
- Djakow, Jana;
- Zemková, Daniela;
- Cipra, Adam;
- Pohunek, Petr;
- Lebl, Jan
Publication type:
Article
Primary ciliary dyskinesia and psychological well-being in adolescence.
Published in:
PLoS ONE, 2020, v. 15, n. 1, p. 1, doi. 10.1371/journal.pone.0227888
By:
- Valero-Moreno, Selene;
- Castillo-Corullón, Silvia;
- Montoya-Castilla, Inmaculada;
- Pérez-Marín, Marián
Publication type:
Article
Clinical analysis of patients with primary ciliary dyskinesia in mainland China.
Published in:
Clinical Respiratory Journal, 2016, v. 10, n. 6, p. 765, doi. 10.1111/crj.12284
By:
- Cao, Yueqin;
- Shao, Changzhou;
- Song, Yuanlin;
- Bai, Chunxue;
- He, Lixian
Publication type:
Article
CCDC40 mutation as a cause of primary ciliary dyskinesia: a case report and review of literature.
Published in:
Clinical Respiratory Journal, 2016, v. 10, n. 5, p. 614, doi. 10.1111/crj.12268
By:
- Sui, Weiguo;
- Hou, Xianliang;
- Che, Wenti;
- Ou, Minglin;
- Sun, Guoping;
- Huang, Shengxing;
- Liu, Fuhua;
- Chen, Peng;
- Wei, Xiaolian;
- Dai, Yong
Publication type:
Article
Primary ciliary dyskinesia complicated with diffuse panbronchiolitis: a case report and literature review.
Published in:
Clinical Respiratory Journal, 2014, v. 8, n. 4, p. 425, doi. 10.1111/crj.12089
By:
- Chen, Wei;
- Shao, Changzhou;
- Song, Yuanlin;
- Bai, Chunxue
Publication type:
Article
Prevalence and course of disease after lung resection in primary ciliary dyskinesia: a cohort & nested case-control study.
Published in:
2019
By:
- Kouis, Panayiotis;
- Goutaki, Myrofora;
- Halbeisen, Florian S.;
- Gioti, Ifigeneia;
- Middleton, Nicos;
- Amirav, Israel;
- Barbato, Angelo;
- Behan, Laura;
- Boon, Mieke;
- Emiralioglu, Nagehan;
- Haarman, Eric G.;
- Karadag, Bulent;
- Koerner-Rettberg, Cordula;
- Lazor, Romain;
- Loebinger, Michael R.;
- Maitre, Bernard;
- Mazurek, Henryk;
- Morgan, Lucy;
- Nielsen, Kim Gjerum;
- Omran, Heymut
Publication type:
journal article
Study protocol, rationale and recruitment in a European multi-centre randomized controlled trial to determine the efficacy and safety of azithromycin maintenance therapy for 6 months in primary ciliary dyskinesia.
Published in:
2016
By:
- Kobbernagel, Helene E.;
- Buchvald, Frederik F.;
- Haarman, Eric G.;
- Casaulta, Carmen;
- Collins, Samuel A.;
- Hogg, Claire;
- Kuehni, Claudia E.;
- Lucas, Jane S.;
- Omran, Heymut;
- Quittner, Alexandra L.;
- Werner, Claudius;
- Nielsen, Kim G.
Publication type:
journal article
Diagnostic accuracy of nasal nitric oxide for establishing diagnosis of primary ciliary dyskinesia: a meta-analysis.
Published in:
2015
By:
- Kouis, Panayiotis;
- Papatheodorou, Stefania I.;
- Yiallouros, Panayiotis K.
Publication type:
journal article
Validation of a portable nitric oxide analyzer for screening in primary ciliary dyskinesias.
Published in:
BMC Pulmonary Medicine, 2014, v. 14, n. 1, p. 1, doi. 10.1186/1471-2466-14-18
By:
- Harris, Amanda;
- Bhullar, Esther;
- Gove, Kerry;
- Joslin, Rhiannon;
- Pelling, Jennifer;
- Evans, Hazel J.;
- Walker, Woolf T.;
- Lucas, Jane S.
Publication type:
Article
Mutations in PIK3C2A cause syndromic short stature, skeletal abnormalities, and cataracts associated with ciliary dysfunction.
Published in:
PLoS Genetics, 2019, v. 15, n. 4, p. 1, doi. 10.1371/journal.pgen.1008088
By:
- Tiosano, Dov;
- Baris, Hagit N.;
- Chen, Anlu;
- Hitzert, Marrit M.;
- Schueler, Markus;
- Gulluni, Federico;
- Wiesener, Antje;
- Bergua, Antonio;
- Mory, Adi;
- Copeland, Brett;
- Gleeson, Joseph G.;
- Rump, Patrick;
- van Meer, Hester;
- Sival, Deborah A.;
- Haucke, Volker;
- Kriwinsky, Josh;
- Knaup, Karl X.;
- Reis, André;
- Hauer, Nadine N.;
- Hirsch, Emilio
Publication type:
Article
Nitrogen dioxide-induced eosinophilia and mucosal injury in the trachea of the guinea pig.
Published in:
1993
By:
- Ohashi, Yoshihiro;
- Nakai, Yoshiaki;
- Sugiura, Yoshikazu;
- Ohno, Yoshiharu;
- Okamoto, Hideki;
- Ohashi, Y;
- Nakai, Y;
- Sugiura, Y;
- Ohno, Y;
- Okamoto, H
Publication type:
journal article
Yenidoğanda Nadir Bir Solunum Sıkıntısı Nedeni: Primer Siliyer Diskinezi.
Published in:
Forbes Journal of Medicine, 2024, v. 5, n. 3, p. 205, doi. 10.4274/forbes.galenos.2024.37431
By:
- SAY, Birgül LİVAOĞLU;
- SAĞLAM, Celal
Publication type:
Article
Direct Comparison of Quality of Life in Patients with Allergic Rhinitis Undergoing Sublingual Versus Subcutaneous Immunotherapy.
Published in:
Journal of Clinical Medicine, 2024, v. 13, n. 21, p. 6397, doi. 10.3390/jcm13216397
By:
- Cook, Lauren M.;
- Longfellow, Grace A.;
- Kessel, Julia C.;
- Thorp, Brian D.;
- Kimple, Adam J.;
- Klatt-Cromwell, Cristine N.;
- Senior, Brent A.;
- Ebert Jr., Charles S.
Publication type:
Article
The Non-Invasive Detection of Pulmonary Exacerbations in Disorders of Mucociliary Clearance with Breath Analysis: A Systematic Review.
Published in:
Journal of Clinical Medicine, 2024, v. 13, n. 12, p. 3372, doi. 10.3390/jcm13123372
By:
- Nessen, Emma;
- Toussaint, Belle;
- Israëls, Joël;
- Brinkman, Paul;
- Maitland-van der Zee, Anke-Hilse;
- Haarman, Eric
Publication type:
Article
Changes in Sleep in Children and Adults with Cystic Fibrosis and Primary Ciliary Dyskinesia over Time and after CFTR Modulator Therapy.
Published in:
Journal of Clinical Medicine, 2023, v. 12, n. 24, p. 7612, doi. 10.3390/jcm12247612
By:
- Cohen-Cymberknoh, Malena;
- Lehavi, Maya;
- Gileles-Hillel, Alex;
- Atia, Ohad;
- Breuer, Oded;
- Reiter, Joel
Publication type:
Article
Mapping the Most Common Founder Variant in RSPH9 That Causes Primary Ciliary Dyskinesia in Multiple Consanguineous Families of Bedouin Arabs.
Published in:
Journal of Clinical Medicine, 2023, v. 12, n. 20, p. 6505, doi. 10.3390/jcm12206505
By:
- Al-Mutairi, Dalal A.;
- Alsabah, Basel H.;
- Pennekamp, Petra;
- Omran, Heymut
Publication type:
Article
Impaired Nitric Oxide Synthetase Activity in Primary Ciliary Dyskinesia—Data-Driven Hypothesis.
Published in:
Journal of Clinical Medicine, 2023, v. 12, n. 18, p. 6010, doi. 10.3390/jcm12186010
By:
- Eggenkemper, Lisa;
- Schlegtendal, Anne;
- Maier, Christoph;
- Lücke, Thomas;
- Brinkmann, Folke;
- Beckmann, Bibiana;
- Tsikas, Dimitrios;
- Koerner-Rettberg, Cordula
Publication type:
Article
Chronic Cough and Causes in Children.
Published in:
Journal of Clinical Medicine, 2023, v. 12, n. 12, p. 3947, doi. 10.3390/jcm12123947
By:
- Weinberger, Miles
Publication type:
Article
Current and Emerging Treatment Options in Sinus and Nasal Diseases: Surgical Challenges and Therapeutic Perspectives.
Published in:
Journal of Clinical Medicine, 2023, v. 12, n. 4, p. 1485, doi. 10.3390/jcm12041485
By:
- Zhao, Xiao-Ying;
- Chen, Ming;
- Cheng, Lei
Publication type:
Article
Novel SPEF2 Variant in a Japanese Patient with Primary Ciliary Dyskinesia: A Case Report and Literature Review.
Published in:
2023
By:
- Mori, Mayako;
- Kido, Takashi;
- Sakamoto, Noriho;
- Ozasa, Mutsumi;
- Kido, Kumiko;
- Noguchi, Yasuko;
- Tokito, Takatomo;
- Okuno, Daisuke;
- Yura, Hirokazu;
- Hara, Atsuko;
- Ishimoto, Hiroshi;
- Suematsu, Takashi;
- Obase, Yasushi;
- Tanaka, Yoshimasa;
- Izumikawa, Koichi;
- Takeuchi, Kazuhiko;
- Mukae, Hiroshi
Publication type:
Case Study