Works matching DE "CILIARY motility disorders"

Results: 576

Bilateral Sensorineural Hearing Loss in a Patient with Primary Ciliary Dyskinesia and Concomitant SH3TC2 Gene Mutation.

Published in:

Journal of Clinical Medicine, 2025, v. 14, n. 11, p. 3692, doi. 10.3390/jcm14113692

By:

Aldè, Mirko;
Ambrosetti, Umberto;
Guazzo, Raffaella;
Rocca, Maria Santa;
Piatti, Gioia

Publication type:

Article

Plakophilin 3 Is Involved in Basal Body Docking in Multiciliated Cells.

Published in:

International Journal of Molecular Sciences, 2025, v. 26, n. 11, p. 5381, doi. 10.3390/ijms26115381

By:

Louka, Panagiota;
Kyriakou, Chrysovalantou;
Diakourti, Ioanna;
Skourides, Paris

Publication type:

Article

Primary ciliary dyskinesia: a case report of double DNAH11 mutant alleles.

Published in:

2025

By:

Pîrlog, Lorin-Manuel;
Pătrășcanu, Andrada-Adelaida;
Kutasi, Eniko;
Iordănescu, Irina;
Militaru, Mariela Sanda

Publication type:

Case Study

Nasal rinsing with probiotics in rhinosinusitis -- analysis of symptoms and safety assessment.

Published in:

Polish Otolaryngology / Otolaryngologia Polska, 2025, v. 79, n. 3, p. 1, doi. 10.5604/01.3001.0055.0503

By:

Brożek-Mądry, Eliza;
Burska, Zofia;
Sosnowska-Turek, Ewelina

Publication type:

Article

Assessing Olfactory Acuity in Primary Ciliary Dyskinesia with the RSPH4A Founder Mutation.

Published in:

Journal of Clinical Medicine, 2025, v. 14, n. 10, p. 3612, doi. 10.3390/jcm14103612

By:

De Jesús, Miguel A.;
De Jesús-Rojas, Wilfredo

Publication type:

Article

Ciliary Motility and Ultrastructure in Bronchial Epithelium of Lung Transplant Recipients with Primary Ciliary Dyskinesia.

Published in:

Journal of Clinical Medicine, 2025, v. 14, n. 10, p. 3439, doi. 10.3390/jcm14103439

By:

Armengot, Miguel;
Bancalari, Catalina;
Carretero-Vilarroig, Lidón;
Blanco-Máñez, Rosana;
Muñoz-Fernández, Noelia;
Cases, Enrique;
Millán, José M.;
Almanzo, Santiago;
Jaijo, Teresa

Publication type:

Article

Impulse Oscillometry is Useful in Detecting Lung Function Abnormalities in Preschoolers with Primary Ciliary Dyskinesia but Not Cystic Fibrosis: A Cross-Sectional Study Results.

Published in:

Pediatric Allergy, Immunology & Pulmonology, 2025, v. 38, n. 2, p. 71, doi. 10.1089/ped.2024.0142

By:

Sunman, Birce;
Yalcin, Ebru;
Alboga, Didem;
Capraz Yavuz, Burcu;
Altay Tanyer, Emine;
Emiralioglu, Nagehan;
Dogru, Deniz;
Özçelik, Uğur

Publication type:

Article

Paternal epigenetic and genetic inheritance gets complicated: the conundrum of conceptus metabolism.

Published in:

Journal of Assisted Reproduction & Genetics, 2024, v. 41, n. 6, p. 1461, doi. 10.1007/s10815-024-03170-1

By:

Albertini, David F.

Publication type:

Article

Novel SPEF2 variants cause male infertility and likely primary ciliary dyskinesia.

Published in:

Journal of Assisted Reproduction & Genetics, 2024, v. 41, n. 6, p. 1485, doi. 10.1007/s10815-024-03106-9

By:

Lu, Wenqing;
Li, Yong;
Meng, Lanlan;
Tan, Chen;
Nie, Hongchuan;
Zhang, Qianjun;
Song, Yuying;
Zhang, Huan;
Tan, Yue-Qiu;
Tu, Chaofeng;
Guo, Haichun;
Wu, Longxiang;
Du, Juan

Publication type:

Article

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

Published in:

2023

By:

Natarajamani, Sasikala;
Ayyappan, Rajapriya;
Manikere, Archana

Publication type:

Case Study

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

Published in:

Journal of Assisted Reproduction & Genetics, 2023, v. 40, n. 4, p. 765, doi. 10.1007/s10815-023-02755-6

By:

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

Publication type:

Article

Continuing the search for sperm-based determinants of early mammalian development.

Published in:

Journal of Assisted Reproduction & Genetics, 2023, v. 40, n. 4, p. 695, doi. 10.1007/s10815-023-02826-8

By:

Albertini, David F.

Publication type:

Article

Identification of novel biallelic LRRC6 variants in male Chinese patients with primary ciliary dyskinesia and infertility.

Published in:

2023

By:

Li, Yunhao;
Li, Yong;
Wang, Ying;
Meng, Lanlan;
Tan, Chen;
Du, Juan;
Tan, Yue-Qiu;
Nie, Hongchuan;
Zhang, Qianjun;
Lu, Guangxiu;
Lin, Ge;
Li, Huanzhu;
Zhang, Huan;
Tu, Chaofeng

Publication type:

Case Study

The effect of a novel LRRC6 mutation on the flagellar ultrastructure in a primary ciliary dyskinesia patient.

Published in:

Journal of Assisted Reproduction & Genetics, 2021, v. 38, n. 3, p. 689, doi. 10.1007/s10815-020-02036-6

By:

Li, Yaqian;
Jiang, Chuan;
Zhang, Xueguang;
Liu, Mohan;
Sun, Yongkang;
Yang, Yihong;
Shen, Ying

Publication type:

Article

Novel compound heterozygous DNAAF2 mutations cause primary ciliary dyskinesia in a Han Chinese family.

Published in:

Journal of Assisted Reproduction & Genetics, 2020, v. 37, n. 9, p. 2159, doi. 10.1007/s10815-020-01859-7

By:

Sun, Minghan;
Zhang, Yi;
JiyunYang;
Wang, Yi;
Tan, Hao;
Wang, Hailian;
Lei, Tiantian;
Li, Xiaojie;
Zhang, Xiaojian;
Xiong, Wen;
Dou, Ke;
Ma, Yongxin

Publication type:

Article

Characterization of CCDC103 expression profiles: further insights in primary ciliary dyskinesia and in human reproduction.

Published in:

Journal of Assisted Reproduction & Genetics, 2019, v. 36, n. 8, p. 1683, doi. 10.1007/s10815-019-01509-7

By:

Pereira, R.;
Oliveira, M. E.;
Santos, R.;
Oliveira, E.;
Barbosa, T.;
Santos, T.;
Gonçalves, P.;
Ferraz, L.;
Pinto, S.;
Barros, A.;
Oliveira, J.;
Sousa, M.

Publication type:

Article

Erratum.

Published in:: 2022
Publication type:: Correction Notice

The impact of polycystic ovary syndrome on tubal ectopic pregnancy risk during first pregnancy.

Published in:

Jinekoloji-Obstetrik & Neonatoloji Tip Dergisi, 2025, v. 22, n. 1, p. 69, doi. 10.38136/jgon.1604251

By:

KORPE, Busra;
ERGORUN, Samet Kutluay;
MERMI, Sumeyye;
KOSE, Caner

Publication type:

Article

A Rare Case of Kartagener’s Syndrome with Schizophrenia.

Published in:

2022

By:

Khar, Prerna Balkrishen;
Das, Nishant;
Roy, Parijat;
Bhatankar, Swaroop

Publication type:

Case Study

Asthma Among Children With Primary Ciliary Dyskinesia.

Published in:

JAMA Network Open, 2024, v. 7, n. 12, p. e2449795, doi. 10.1001/jamanetworkopen.2024.49795

By:

Zein, Joe;
Owora, Arthur;
Kim, Hyun Jo;
Marozkina, Nadzeya;
Gaston, Benjamin

Publication type:

Article

Infertility and pregnancy outcomes among adults with primary ciliary dyskinesia.

Published in:

Human Reproduction Open, 2024, v. 2024, n. 3, p. 1, doi. 10.1093/hropen/hoae039

By:

Schreck, Leonie D;
Pedersen, Eva S L;
Dexter, Katie;
Manion, Michele;
Group, Living with PCD Study Advisory;
Massin, Nathalie;
Maitre, Bernard;
Goutaki, Myrofora;
Kuehni, Claudia E

Publication type:

Article

Follow-Up and Management of Chronic Rhinosinusitis in Adults with Primary Ciliary Dyskinesia: Review and Experience of Our Reference Centers.

Published in:

Journal of Clinical Medicine, 2019, v. 8, n. 9, p. 1495, doi. 10.3390/jcm8091495

By:

Bequignon, Emilie;
Dupuy, Laurence;
Escabasse, Virginie;
Zerah-Lancner, Francoise;
Bassinet, Laurence;
Honoré, Isabelle;
Legendre, Marie;
Devars du Mayne, Marie;
Crestani, Bruno;
Escudier, Estelle;
Coste, André;
Papon, Jean-François;
Maître, Bernard

Publication type:

Article

Critical Evaluation of Sinonasal Disease in 64 Adults with Primary Ciliary Dyskinesia.

Published in:

Journal of Clinical Medicine, 2019, v. 8, n. 5, p. 619, doi. 10.3390/jcm8050619

By:

Bequignon, Emilie;
Dupuy, Laurence;
Zerah-Lancner, Francoise;
Bassinet, Laurence;
Honoré, Isabelle;
Legendre, Marie;
Devars du Mayne, Marie;
Escabasse, Virginie;
Crestani, Bruno;
Maître, Bernard;
Escudier, Estelle;
Coste, André;
Papon, Jean-François

Publication type:

Article

Situs inversus totalis.

Published in:

Anaesthesiologie & Intensivmedizin, 2021, v. 62, p. 1, doi. 10.19224/ai2021.S211

By:

Weis, Florian;
Degrandi, Carlos

Publication type:

Article

A novel homozygous LRRC6 mutation causes male infertility with asthenozoospermia and primary ciliary dyskinesia in humans.

Published in:

Andrology, 2025, v. 13, n. 3, p. 459, doi. 10.1111/andr.13685

By:

Shi, Shengjia;
Tang, Xiangrong;
Long, Shunhua;
Yang, Jie;
Wang, Tianwei;
Wang, Hongmei;
Hu, Tingwenyi;
Shi, Juanzi;
Huang, Guoning;
Qiao, Sen;
Lin, Tingting

Publication type:

Article

Syndromic male subfertility: A network view of genome–phenome associations.

Published in:

Andrology, 2022, v. 10, n. 4, p. 720, doi. 10.1111/andr.13167

By:

Mikec, Špela;
Kolenc, Živa;
Peterlin, Borut;
Horvat, Simon;
Pogorevc, Neža;
Kunej, Tanja

Publication type:

Article

Mucolytic and Antioxidant Properties of Carbocysteine as a Strategy in COVID-19 Therapy.

Published in:

Life (2075-1729), 2022, v. 12, n. 11, p. 1824, doi. 10.3390/life12111824

By:

Bianco, Andrea;
Conte, Stefano;
Mariniello, Domenica Francesca;
Allocca, Valentino;
Matera, Maria Gabriella;
D'Agnano, Vito;
Lanata, Luigi;
Cazzola, Mario;
Perrotta, Fabio

Publication type:

Article

Recurrent ulcerated nodules and erythematous plaques in a patient with Kartagener syndrome.

Published in:

Clinical & Experimental Dermatology, 2023, v. 48, n. 6, p. 688, doi. 10.1093/ced/llad055

By:

Escolà, Helena;
Lopez-Castillo, Daniel;
Pojol, Ramon M

Publication type:

Article

Neonatal diagnosis of primary ciliary dyskinesia in a high consanguinity population: a single tertiary center experience.

Published in:

European Journal of Pediatrics, 2024, v. 183, n. 8, p. 3193, doi. 10.1007/s00431-024-05574-8

By:

Arwas, Noga;
Gatt, Dvir;
Aviram, Micha;
Abramsky, Ramy;
Hazan, Guy;
Goldbart, Aviv;
Amirav, Israel;
Golan-Tripto, Inbal

Publication type:

Article

Novel Loss-of-Function Mutations in DNAH1 Displayed Different Phenotypic Spectrum in Humans and Mice.

Published in:

Frontiers in Endocrinology, 2021, v. 12, p. 1, doi. 10.3389/fendo.2021.765639

By:

Khan, Ranjha;
Zaman, Qumar;
Chen, Jing;
Khan, Manan;
Ma, Ao;
Zhou, Jianteng;
Zhang, Beibei;
Ali, Asim;
Naeem, Muhammad;
Zubair, Muhammad;
Zhao, Daren;
Shah, Wasim;
Khan, Mazhar;
Zhang, Yuanwei;
Xu, Bo;
Zhang, Huan;
Shi, Qinghua

Publication type:

Article

Expanding the Genotypic and Phenotypic Spectrum of OFD1 -Related Conditions: Three More Cases.

Published in:

Genes, 2024, v. 15, n. 12, p. 1633, doi. 10.3390/genes15121633

By:

Kyian, Tatiana;
Borovikov, Artem;
Anisimova, Inga;
Ryzhkova, Oksana;
Bulakh, Maria;
Bragina, Elizabeth;
Avakyan, Maria;
Demchenko, Anna;
Zabnenkova, Victoria;
Kovalev, Victor;
Bukhonin, Artem;
Kondratyeva, Elena;
Kutsev, Sergey

Publication type:

Article

Primary Ciliary Dyskinesia in a Portuguese Bronchiectasis Outpatient Clinic.

Published in:

Genes, 2023, v. 14, n. 3, p. 541, doi. 10.3390/genes14030541

By:

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

Publication type:

Article

Challenges in Diagnosing Primary Ciliary Dyskinesia in a Brazilian Tertiary Hospital.

Published in:

Genes, 2022, v. 13, n. 7, p. 1252, doi. 10.3390/genes13071252

By:

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

Publication type:

Article

Do Causes Influence Functional Aspects and Quality of Life in Patients with Nonfibrocystic Bronchiectasis?

Published in:

Pulmonary Medicine, 2024, v. 2024, p. 1, doi. 10.1155/2024/3446536

By:

Cristina da Silva, Ádria;
de Campos Medeiros, Jessica;
Pereira, Monica Corso

Publication type:

Article

A Case of Primary Ciliary Dyskinesia Caused by a Mutation in OFD1, Which Was Diagnosed Owing to Clostridium difficile Infection.

Published in:

Pediatric Reports, 2021, v. 13, n. 2, p. 241, doi. 10.3390/pediatric13020033

By:

Rina Hasegawa;
Shinji Suzuki;
Shigeo Nishimata;
Yasuyo Kashiwagi;
Natsuko Inagaki;
Hisashi Kawashima

Publication type:

Article

An Organ System-Based Synopsis of Pseudomonas aeruginosa Virulence.

Published in:

Virulence, 2021, v. 12, n. 1, p. 1469, doi. 10.1080/21505594.2021.1926408

By:

Morin, Charles D.;
Déziel, Eric;
Gauthier, Jeff;
Levesque, Roger C.;
Lau, Gee W.

Publication type:

Article

An Organ System-Based Synopsis of Pseudomonas aeruginosa Virulence.

Published in:

Virulence, 2021, v. 12, n. 1, p. 1469, doi. 10.1080/21505594.2021.1926408

By:

Morin, Charles D.;
Déziel, Eric;
Gauthier, Jeff;
Levesque, Roger C.;
Lau, Gee W.

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

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

Published in:

Cardiology in the Young, 2015, v. 25, n. 4, p. 752, doi. 10.1017/S1047951114000912

By:

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

Publication type:

Article

Genomic profiling supports the diagnosis of primary ciliary dyskinesia and reveals novel candidate genes and genetic variants.

Published in:

PLoS ONE, 2018, v. 13, n. 10, p. 1, doi. 10.1371/journal.pone.0205422

By:

Andjelkovic, Marina;
Minic, Predrag;
Vreca, Misa;
Stojiljkovic, Maja;
Skakic, Anita;
Sovtic, Aleksandar;
Rodic, Milan;
Skodric-Trifunovic, Vesna;
Maric, Nina;
Visekruna, Jelena;
Spasovski, Vesna;
Pavlovic, Sonja

Publication type:

Article

Computed tomography in adult patients with primary ciliary dyskinesia: Typical imaging findings.

Published in:

PLoS ONE, 2018, v. 13, n. 2, p. 1, doi. 10.1371/journal.pone.0191457

By:

Dettmer, Sabine;
Ringshausen, Felix;
Vogel-Claussen, Jens;
Fuge, Jan;
Faschkami, Amir;
Shin, Hoen-oh;
Schwerk, Nicolaus;
Welte, Tobias;
Wacker, Frank;
Rademacher, Jessica

Publication type:

Article

Non-cardiac issues in patients with heterotaxy syndrome.

Published in:

Annals of Pediatric Cardiology, 2014, v. 7, n. 3, p. 187, doi. 10.4103/0974-2069.140834

By:

Kothari, Shyam S.

Publication type:

Article

Issue highlights.

Published in:

Acta Paediatrica, 2025, v. 114, n. 2, p. 230, doi. 10.1111/apa.17568

By:

Käll, Anna;
Lagercrantz, Hugo

Publication type:

Article

Incidence of primary ciliary dyskinesia: A study across diverse communities.

Published in:

Acta Paediatrica, 2025, v. 114, n. 2, p. 442, doi. 10.1111/apa.17482

By:

Stoliarov, Meital;
Gatt, Dvir;
Golan‐Tripto, Inbal;
Goldbart, Aviv;
Aviram, Micha;
Hazan, Guy

Publication type:

Article

Cost-effectiveness analysis of three algorithms for diagnosing primary ciliary dyskinesia: a simulation study.

Published in:

2019

By:

Kouis, Panayiotis;
Papatheodorou, Stefania I.;
Middleton, Nicos;
Giallouros, George;
Kyriacou, Kyriacos;
Cohen, Joshua T.;
Evans, John S.;
Yiallouros, Panayiotis K.

Publication type:

journal article

Successful Transjugular Percutaneous Atrial Septal Defect Closure in a Dextrocardia Patient with Kartagener's Syndrome, Situs Inversus, Interrupted Inferior Vena Cava, and Bilateral Superior Vena Cava.

Published in:

2023

By:

Yücel, İlker Kemal;
Çınar, Ayşegül Aslan;
Sürücü, Murat;
Çelebi, Ahmet

Publication type:

Case Study

Whole-exome sequencing reveals a combination of extremely rare single-nucleotide polymorphism of DNAH9 and RSPH1 genes in a Japanese fetus with situs viscerum inversus.

Published in:

Medical Molecular Morphology, 2021, v. 54, n. 3, p. 275, doi. 10.1007/s00795-021-00287-5

By:

Tate, Genshu

Publication type:

Article

DYX1C1 is required for axonemal dynein assembly and ciliary motility.

Published in:

Nature Genetics, 2013, v. 45, n. 9, p. 995, doi. 10.1038/ng.2707

By:

Tarkar, Aarti;
Loges, Niki T;
Slagle, Christopher E;
Francis, Richard;
Dougherty, Gerard W;
Tamayo, Joel V;
Shook, Brett;
Cantino, Marie;
Schwartz, Daniel;
Jahnke, Charlotte;
Olbrich, Heike;
Werner, Claudius;
Raidt, Johanna;
Pennekamp, Petra;
Abouhamed, Marouan;
Hjeij, Rim;
Köhler, Gabriele;
Griese, Matthias;
Li, You;
Lemke, Kristi

Publication type:

Article

CCDC103 mutations cause primary ciliary dyskinesia by disrupting assembly of ciliary dynein arms.

Published in:

Nature Genetics, 2012, v. 44, n. 6, p. 714, doi. 10.1038/ng.2277

By:

Panizzi, Jennifer R;
Becker-Heck, Anita;
Castleman, Victoria H;
Al-Mutairi, Dalal A;
Liu, Yan;
Loges, Niki T;
Pathak, Narendra;
Austin-Tse, Christina;
Sheridan, Eamonn;
Schmidts, Miriam;
Olbrich, Heike;
Werner, Claudius;
Häffner, Karsten;
Hellman, Nathan;
Chodhari, Rahul;
Gupta, Amar;
Kramer-Zucker, Albrecht;
Olale, Felix;
Burdine, Rebecca D;
Schier, Alexander F

Publication type:

Article

A Deep Intronic, Pathogenic Variant in DNAH11 Causes Primary Ciliary Dyskinesia.

Published in:

American Journal of Respiratory Cell & Molecular Biology, 2022, v. 67, n. 4, p. 511, doi. 10.1165/rcmb.2022-0176le

By:

Shapiro, Adam J.;
Stonebraker, Jaclyn R.;
Knowles, Michael R.;
Zariwala, Maimoona A.

Publication type:

Article