These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
4. Two novel mutations in the DNAH11 gene in primary ciliary dyskinesia (CILD7) with considerable variety in the clinical and beating cilia phenotype. Schultz R; Elenius V; Lukkarinen H; Saarela T BMC Med Genet; 2020 Nov; 21(1):237. PubMed ID: 33243178 [TBL] [Abstract][Full Text] [Related]
5. High prevalence of respiratory ciliary dysfunction in congenital heart disease patients with heterotaxy. Nakhleh N; Francis R; Giese RA; Tian X; Li Y; Zariwala MA; Yagi H; Khalifa O; Kureshi S; Chatterjee B; Sabol SL; Swisher M; Connelly PS; Daniels MP; Srinivasan A; Kuehl K; Kravitz N; Burns K; Sami I; Omran H; Barmada M; Olivier K; Chawla KK; Leigh M; Jonas R; Knowles M; Leatherbury L; Lo CW Circulation; 2012 May; 125(18):2232-42. PubMed ID: 22499950 [TBL] [Abstract][Full Text] [Related]
6. Diagnosis of Primary Ciliary Dyskinesia by a Targeted Next-Generation Sequencing Panel: Molecular and Clinical Findings in Italian Patients. Boaretto F; Snijders D; Salvoro C; Spalletta A; Mostacciuolo ML; Collura M; Cazzato S; Girosi D; Silvestri M; Rossi GA; Barbato A; Vazza G J Mol Diagn; 2016 Nov; 18(6):912-922. PubMed ID: 27637300 [TBL] [Abstract][Full Text] [Related]
7. Whole-Exome Sequencing and Targeted Copy Number Analysis in Primary Ciliary Dyskinesia. Marshall CR; Scherer SW; Zariwala MA; Lau L; Paton TA; Stockley T; Jobling RK; Ray PN; Knowles MR; ; Hall DA; Dell SD; Kim RH G3 (Bethesda); 2015 Jul; 5(8):1775-81. PubMed ID: 26139845 [TBL] [Abstract][Full Text] [Related]
8. A targeted next-generation sequencing panel reveals novel mutations in Japanese patients with primary ciliary dyskinesia. Takeuchi K; Kitano M; Kiyotoshi H; Ikegami K; Ogawa S; Ikejiri M; Nagao M; Fujisawa T; Nakatani K Auris Nasus Larynx; 2018 Jun; 45(3):585-591. PubMed ID: 28939216 [TBL] [Abstract][Full Text] [Related]
9. Genetics of 67 patients of suspected primary ciliary dyskinesia from India. Jat KR; Faruq M; Jindal S; Bari S; Soni A; Sharma P; Mathews S; Shamim U; Ahuja V; Uppilli B; Yadav SC; Lodha R; Arava SK; Kabra SK Clin Genet; 2024 Nov; 106(5):650-658. PubMed ID: 39004944 [TBL] [Abstract][Full Text] [Related]
10. Genotype and phenotype evaluation of patients with primary ciliary dyskinesia: First results from Turkey. Emiralioğlu N; Taşkıran EZ; Koşukcu C; Bilgiç E; Atilla P; Kaya B; Günaydın Ö; Yüzbaşıoğlu A; Tuğcu GD; Ademhan D; Eryılmaz Polat S; Gharibzadeh Hızal M; Yalçın E; Doğru D; Kiper N; Alikaşifoğlu M; Özçelik U Pediatr Pulmonol; 2020 Feb; 55(2):383-393. PubMed ID: 31765523 [TBL] [Abstract][Full Text] [Related]
11. Clinical and Genetic Spectrum of Children with Primary Ciliary Dyskinesia in China. Guo Z; Chen W; Wang L; Qian L J Pediatr; 2020 Oct; 225():157-165.e5. PubMed ID: 32502479 [TBL] [Abstract][Full Text] [Related]
12. Wide phenotypic variability in RSPH9-associated primary ciliary dyskinesia: review of a case-series from Cyprus. Yiallouros PK; Kouis P; Pirpa P; Michailidou K; Loizidou MA; Potamiti L; Kalyva M; Koutras G; Kyriacou K; Hadjisavvas A J Thorac Dis; 2019 May; 11(5):2067-2075. PubMed ID: 31285900 [TBL] [Abstract][Full Text] [Related]
13. Clinical and Genetic Spectrum of Children With Primary Ciliary Dyskinesia in China. Guan Y; Yang H; Yao X; Xu H; Liu H; Tang X; Hao C; Zhang X; Zhao S; Ge W; Ni X Chest; 2021 May; 159(5):1768-1781. PubMed ID: 33577779 [TBL] [Abstract][Full Text] [Related]
14. Prevalence of chronic rhinosinusitis in bronchiectasis patients suspected of ciliary dyskinesia. McCormick JP; Weeks CG; Rivers NJ; Owen JD; Kelly DR; Rowe SM; Solomon GM; Woodworth BA; Cho DY Int Forum Allergy Rhinol; 2019 Dec; 9(12):1430-1435. PubMed ID: 31430425 [TBL] [Abstract][Full Text] [Related]
15. C11orf70 Mutations Disrupting the Intraflagellar Transport-Dependent Assembly of Multiple Axonemal Dyneins Cause Primary Ciliary Dyskinesia. Fassad MR; Shoemark A; le Borgne P; Koll F; Patel M; Dixon M; Hayward J; Richardson C; Frost E; Jenkins L; Cullup T; Chung EMK; Lemullois M; Aubusson-Fleury A; Hogg C; Mitchell DR; Tassin AM; Mitchison HM Am J Hum Genet; 2018 May; 102(5):956-972. PubMed ID: 29727692 [TBL] [Abstract][Full Text] [Related]
16. Recurring large deletion in DRC1 (CCDC164) identified as causing primary ciliary dyskinesia in two Asian patients. Morimoto K; Hijikata M; Zariwala MA; Nykamp K; Inaba A; Guo TC; Yamada H; Truty R; Sasaki Y; Ohta K; Kudoh S; Leigh MW; Knowles MR; Keicho N Mol Genet Genomic Med; 2019 Aug; 7(8):e838. PubMed ID: 31270959 [TBL] [Abstract][Full Text] [Related]
17. Deep phenotyping, including quantitative ciliary beating parameters, and extensive genotyping in primary ciliary dyskinesia. Blanchon S; Legendre M; Bottier M; Tamalet A; Montantin G; Collot N; Faucon C; Dastot F; Copin B; Clement A; Filoche M; Coste A; Amselem S; Escudier E; Papon JF; Louis B J Med Genet; 2020 Apr; 57(4):237-244. PubMed ID: 31772028 [TBL] [Abstract][Full Text] [Related]
18. An effective combination of sanger and next generation sequencing in diagnostics of primary ciliary dyskinesia. Djakow J; Kramná L; Dušátková L; Uhlík J; Pursiheimo JP; Svobodová T; Pohunek P; Cinek O Pediatr Pulmonol; 2016 May; 51(5):498-509. PubMed ID: 26228299 [TBL] [Abstract][Full Text] [Related]
19. Molecular genetic analysis of PKHD1 by next-generation sequencing in Czech families with autosomal recessive polycystic kidney disease. Obeidova L; Seeman T; Elisakova V; Reiterova J; Puchmajerova A; Stekrova J BMC Med Genet; 2015 Dec; 16():116. PubMed ID: 26695994 [TBL] [Abstract][Full Text] [Related]
20. The role of molecular genetic analysis in the diagnosis of primary ciliary dyskinesia. Kim RH; A Hall D; Cutz E; Knowles MR; Nelligan KA; Nykamp K; Zariwala MA; Dell SD Ann Am Thorac Soc; 2014 Mar; 11(3):351-9. PubMed ID: 24498942 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]