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3. Primary ciliary dyskinesia associated with normal axoneme ultrastructure is caused by DNAH11 mutations. Schwabe GC; Hoffmann K; Loges NT; Birker D; Rossier C; de Santi MM; Olbrich H; Fliegauf M; Failly M; Liebers U; Collura M; Gaedicke G; Mundlos S; Wahn U; Blouin JL; Niggemann B; Omran H; Antonarakis SE; Bartoloni L Hum Mutat; 2008 Feb; 29(2):289-98. PubMed ID: 18022865 [TBL] [Abstract][Full Text] [Related]
4. Mutations of DNAH11 in patients with primary ciliary dyskinesia with normal ciliary ultrastructure. Knowles MR; Leigh MW; Carson JL; Davis SD; Dell SD; Ferkol TW; Olivier KN; Sagel SD; Rosenfeld M; Burns KA; Minnix SL; Armstrong MC; Lori A; Hazucha MJ; Loges NT; Olbrich H; Becker-Heck A; Schmidts M; Werner C; Omran H; Zariwala MA; Thorax; 2012 May; 67(5):433-41. PubMed ID: 22184204 [TBL] [Abstract][Full Text] [Related]
5. CCDC151 mutations cause primary ciliary dyskinesia by disruption of the outer dynein arm docking complex formation. Hjeij R; Onoufriadis A; Watson CM; Slagle CE; Klena NT; Dougherty GW; Kurkowiak M; Loges NT; Diggle CP; Morante NF; Gabriel GC; Lemke KL; Li Y; Pennekamp P; Menchen T; Konert F; Marthin JK; Mans DA; Letteboer SJ; Werner C; Burgoyne T; Westermann C; Rutman A; Carr IM; O'Callaghan C; Moya E; Chung EM; ; Sheridan E; Nielsen KG; Roepman R; Bartscherer K; Burdine RD; Lo CW; Omran H; Mitchison HM Am J Hum Genet; 2014 Sep; 95(3):257-74. PubMed ID: 25192045 [TBL] [Abstract][Full Text] [Related]
6. 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]
7. Mutations in Outer Dynein Arm Heavy Chain DNAH9 Cause Motile Cilia Defects and Situs Inversus. Fassad MR; Shoemark A; Legendre M; Hirst RA; Koll F; le Borgne P; Louis B; Daudvohra F; Patel MP; Thomas L; Dixon M; Burgoyne T; Hayes J; Nicholson AG; Cullup T; Jenkins L; Carr SB; Aurora P; Lemullois M; Aubusson-Fleury A; Papon JF; O'Callaghan C; Amselem S; Hogg C; Escudier E; Tassin AM; Mitchison HM Am J Hum Genet; 2018 Dec; 103(6):984-994. PubMed ID: 30471717 [TBL] [Abstract][Full Text] [Related]
8. Mutations in ZMYND10, a gene essential for proper axonemal assembly of inner and outer dynein arms in humans and flies, cause primary ciliary dyskinesia. Moore DJ; Onoufriadis A; Shoemark A; Simpson MA; zur Lage PI; de Castro SC; Bartoloni L; Gallone G; Petridi S; Woollard WJ; Antony D; Schmidts M; Didonna T; Makrythanasis P; Bevillard J; Mongan NP; Djakow J; Pals G; Lucas JS; Marthin JK; Nielsen KG; Santoni F; Guipponi M; Hogg C; Antonarakis SE; Emes RD; Chung EM; Greene ND; Blouin JL; Jarman AP; Mitchison HM Am J Hum Genet; 2013 Aug; 93(2):346-56. PubMed ID: 23891471 [TBL] [Abstract][Full Text] [Related]
9. Primary ciliary dyskinesia with normal ultrastructure: three-dimensional tomography detects absence of DNAH11. Shoemark A; Burgoyne T; Kwan R; Dixon M; Patel MP; Rogers AV; Onoufriadis A; Scully J; Daudvohra F; Cullup T; Loebinger MR; Wilson R; Chung EMK; Bush A; Mitchison HM; Hogg C Eur Respir J; 2018 Feb; 51(2):. PubMed ID: 29467202 [TBL] [Abstract][Full Text] [Related]
10. TTC25 Deficiency Results in Defects of the Outer Dynein Arm Docking Machinery and Primary Ciliary Dyskinesia with Left-Right Body Asymmetry Randomization. Wallmeier J; Shiratori H; Dougherty GW; Edelbusch C; Hjeij R; Loges NT; Menchen T; Olbrich H; Pennekamp P; Raidt J; Werner C; Minegishi K; Shinohara K; Asai Y; Takaoka K; Lee C; Griese M; Memari Y; Durbin R; Kolb-Kokocinski A; Sauer S; Wallingford JB; Hamada H; Omran H Am J Hum Genet; 2016 Aug; 99(2):460-9. PubMed ID: 27486780 [TBL] [Abstract][Full Text] [Related]
11. Defects in the cytoplasmic assembly of axonemal dynein arms cause morphological abnormalities and dysmotility in sperm cells leading to male infertility. Aprea I; Raidt J; Höben IM; Loges NT; Nöthe-Menchen T; Pennekamp P; Olbrich H; Kaiser T; Biebach L; Tüttelmann F; Horvath J; Schubert M; Krallmann C; Kliesch S; Omran H PLoS Genet; 2021 Feb; 17(2):e1009306. PubMed ID: 33635866 [TBL] [Abstract][Full Text] [Related]
12. Value of transmission electron microscopy for primary ciliary dyskinesia diagnosis in the era of molecular medicine: Genetic defects with normal and non-diagnostic ciliary ultrastructure. Shapiro AJ; Leigh MW Ultrastruct Pathol; 2017; 41(6):373-385. PubMed ID: 28915070 [TBL] [Abstract][Full Text] [Related]
13. Multifaceted analysis of Japanese cases of primary ciliary dyskinesia: Value of immunofluorescence for ciliary protein detection in patients with DNAH5 and DNAH11 mutations. Kurokawa A; Kondo M; Orimo M; Honda N; Miyoshi A; Akaba T; Tsuji M; Nakatani K; Ikejiri M; Yagi O; Takeyama K; Takeuchi K; Tagaya E Respir Investig; 2021 Jul; 59(4):550-554. PubMed ID: 33589394 [TBL] [Abstract][Full Text] [Related]
14. Combined exome and whole-genome sequencing identifies mutations in ARMC4 as a cause of primary ciliary dyskinesia with defects in the outer dynein arm. Onoufriadis A; Shoemark A; Munye MM; James CT; Schmidts M; Patel M; Rosser EM; Bacchelli C; Beales PL; Scambler PJ; Hart SL; Danke-Roelse JE; Sloper JJ; Hull S; Hogg C; Emes RD; Pals G; Moore AT; Chung EM; ; Mitchison HM J Med Genet; 2014 Jan; 51(1):61-7. PubMed ID: 24203976 [TBL] [Abstract][Full Text] [Related]
15. Mutations in C11orf70 Cause Primary Ciliary Dyskinesia with Randomization of Left/Right Body Asymmetry Due to Defects of Outer and Inner Dynein Arms. Höben IM; Hjeij R; Olbrich H; Dougherty GW; Nöthe-Menchen T; Aprea I; Frank D; Pennekamp P; Dworniczak B; Wallmeier J; Raidt J; Nielsen KG; Philipsen MC; Santamaria F; Venditto L; Amirav I; Mussaffi H; Prenzel F; Wu K; Bakey Z; Schmidts M; Loges NT; Omran H Am J Hum Genet; 2018 May; 102(5):973-984. PubMed ID: 29727693 [TBL] [Abstract][Full Text] [Related]
16. DNAI2 mutations cause primary ciliary dyskinesia with defects in the outer dynein arm. Loges NT; Olbrich H; Fenske L; Mussaffi H; Horvath J; Fliegauf M; Kuhl H; Baktai G; Peterffy E; Chodhari R; Chung EM; Rutman A; O'Callaghan C; Blau H; Tiszlavicz L; Voelkel K; Witt M; Zietkiewicz E; Neesen J; Reinhardt R; Mitchison HM; Omran H Am J Hum Genet; 2008 Nov; 83(5):547-58. PubMed ID: 18950741 [TBL] [Abstract][Full Text] [Related]
17. Pathogenic variants in CLXN encoding the outer dynein arm docking-associated calcium-binding protein calaxin cause primary ciliary dyskinesia. Hjeij R; Aprea I; Poeta M; Nöthe-Menchen T; Bracht D; Raidt J; Honecker BI; Dougherty GW; Olbrich H; Schwartz O; Keller U; Nüsse H; Diderich KEM; Vogelberg C; Santamaria F; Omran H Genet Med; 2023 May; 25(5):100798. PubMed ID: 36727596 [TBL] [Abstract][Full Text] [Related]
18. 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]
19. [Cilia ultrastructural and gene variation of primary ciliary dyskinesia: report of three cases and literatures review]. Wang K; Chen X; Guo CY; Liu FQ; Wang JR; Sun LF Zhonghua Er Ke Za Zhi; 2018 Feb; 56(2):134-137. PubMed ID: 29429202 [No Abstract] [Full Text] [Related]
20. Static respiratory cilia associated with mutations in Dnahc11/DNAH11: a mouse model of PCD. Lucas JS; Adam EC; Goggin PM; Jackson CL; Powles-Glover N; Patel SH; Humphreys J; Fray MD; Falconnet E; Blouin JL; Cheeseman MT; Bartoloni L; Norris DP; Lackie PM Hum Mutat; 2012 Mar; 33(3):495-503. PubMed ID: 22102620 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]