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Ultrastructural pathology of primary ciliary dyskinesia: report about 125 cases in Germany.

Theegarten D, Ebsen M.

Diagn Pathol. 2011 Nov 24;6:115. doi: 10.1186/1746-1596-6-115.


A case report of primary ciliary dyskinesia, laterality defects and developmental delay caused by the co-existence of a single gene and chromosome disorder.

Casey JP, Goggin P, McDaid J, White M, Ennis S, Betts DR, Lucas JS, Elnazir B, Lynch SA.

BMC Med Genet. 2015 Jun 30;16(1):45. doi: 10.1186/s12881-015-0192-z.


Unique among ciliopathies: primary ciliary dyskinesia, a motile cilia disorder.

Praveen K, Davis EE, Katsanis N.

F1000Prime Rep. 2015 Mar 10;7:36. doi: 10.12703/P7-36. eCollection 2015. Review.


A reach-out system for video microscopy analysis of ciliary motions aiding PCD diagnosis.

Amirav I, Mussaffi H, Roth Y, Schmidts M, Omran H, Werner C; Israeli PCD Consortium Investigators.

BMC Res Notes. 2015 Mar 8;8:71. doi: 10.1186/s13104-015-0999-x.


Immunofluorescence Analysis and Diagnosis of Primary Ciliary Dyskinesia with Radial Spoke Defects.

Frommer A, Hjeij R, Loges NT, Edelbusch C, Jahnke C, Raidt J, Werner C, Wallmeier J, Große-Onnebrink J, Olbrich H, Cindrić S, Jaspers M, Boon M, Memari Y, Durbin R, Kolb-Kokocinski A, Sauer S, Marthin JK, Nielsen KG, Amirav I, Elias N, Eitan K, Shoseyov D, Haeffner K, Omran H.

Am J Respir Cell Mol Biol. 2015 Mar 19. [Epub ahead of print]


Clinical analysis of patients with primary ciliary dyskinesia in mainland China.

Cao Y, Shao C, Song Y, Bai C, He L.

Clin Respir J. 2015 Mar 12. doi: 10.1111/crj.12284. [Epub ahead of print]


CCDC40 mutation as a cause of primary ciliary dyskinesia: a case report and review of literature.

Sui W, Hou X, Che W, Ou M, Sun G, Huang S, Liu F, Chen P, Wei X, Dai Y.

Clin Respir J. 2015 Jan 26. doi: 10.1111/crj.12268. [Epub ahead of print]


Cryo-electron tomography reveals ciliary defects underlying human RSPH1 primary ciliary dyskinesia.

Lin J, Yin W, Smith MC, Song K, Leigh MW, Zariwala MA, Knowles MR, Ostrowski LE, Nicastro D.

Nat Commun. 2014 Dec 4;5:5727. doi: 10.1038/ncomms6727.


Recent advances in primary ciliary dyskinesia genetics.

Kurkowiak M, Ziętkiewicz E, Witt M.

J Med Genet. 2015 Jan;52(1):1-9. doi: 10.1136/jmedgenet-2014-102755. Epub 2014 Oct 28. Review.


Ciliary inclusion disease: report of a new primary ciliary dyskinesia variant.

Wartchow EP, Jaffe R, Mierau GW.

Pediatr Dev Pathol. 2014 Nov-Dec;17(6):465-9. doi: 10.2350/14-06-1504-OA.1. Epub 2014 Oct 9.


Number of nexin links detectable at standard electron microscopy of normal human nasal cilia and at nexin link deficiency.

Cramnert C, Stenram U.

Ultrastruct Pathol. 2014 Dec;38(6):377-81. doi: 10.3109/01913123.2014.930081. Epub 2014 Jun 27.


Characterizing the ultrastructure of primary ciliary dyskinesia transposition defect using electron tomography.

Burgoyne T, Lewis A, Dewar A, Luther P, Hogg C, Shoemark A, Dixon M.

Cytoskeleton (Hoboken). 2014 May;71(5):294-301. doi: 10.1002/cm.21171. Epub 2014 Mar 25.


Laterality defects other than situs inversus totalis in primary ciliary dyskinesia: insights into situs ambiguus and heterotaxy.

Shapiro AJ, Davis SD, Ferkol T, Dell SD, Rosenfeld M, Olivier KN, Sagel SD, Milla C, Zariwala MA, Wolf W, Carson JL, Hazucha MJ, Burns K, Robinson B, Knowles MR, Leigh MW.

Chest. 2014 Nov;146(5):1176-86. doi: 10.1378/chest.13-1704.


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. doi: 10.1513/AnnalsATS.201306-194OC.


Pathology in practice. Primary ciliary dyskinesia (PCD) with associated bronchopneumonia, bronchiectasis, and hydrocephalus in a dog.

Beck JA, Ard M, Howerth EW.

J Am Vet Med Assoc. 2014 Feb 15;244(4):421-3. doi: 10.2460/javma.244.4.421. No abstract available.


Primary ciliary dyskinesia: critical evaluation of clinical symptoms and diagnosis in patients with normal and abnormal ultrastructure.

Boon M, Smits A, Cuppens H, Jaspers M, Proesmans M, Dupont LJ, Vermeulen FL, Van Daele S, Malfroot A, Godding V, Jorissen M, De Boeck K.

Orphanet J Rare Dis. 2014 Jan 22;9:11. doi: 10.1186/1750-1172-9-11.


Mutations in SPAG1 cause primary ciliary dyskinesia associated with defective outer and inner dynein arms.

Knowles MR, Ostrowski LE, Loges NT, Hurd T, Leigh MW, Huang L, Wolf WE, Carson JL, Hazucha MJ, Yin W, Davis SD, Dell SD, Ferkol TW, Sagel SD, Olivier KN, Jahnke C, Olbrich H, Werner C, Raidt J, Wallmeier J, Pennekamp P, Dougherty GW, Hjeij R, Gee HY, Otto EA, Halbritter J, Chaki M, Diaz KA, Braun DA, Porath JD, Schueler M, Baktai G, Griese M, Turner EH, Lewis AP, Bamshad MJ, Nickerson DA, Hildebrandt F, Shendure J, Omran H, Zariwala MA.

Am J Hum Genet. 2013 Oct 3;93(4):711-20. doi: 10.1016/j.ajhg.2013.07.025. Epub 2013 Sep 19.


Successful treatment of persistent hypoxemia by nasal suctioning in a neonate with primary ciliary dyskinesia.

Molchan SL, Hsu DP.

J Clin Neonatol. 2012 Apr;1(2):98-100. doi: 10.4103/2249-4847.96774.


CCDC65 mutation causes primary ciliary dyskinesia with normal ultrastructure and hyperkinetic cilia.

Horani A, Brody SL, Ferkol TW, Shoseyov D, Wasserman MG, Ta-shma A, Wilson KS, Bayly PV, Amirav I, Cohen-Cymberknoh M, Dutcher SK, Elpeleg O, Kerem E.

PLoS One. 2013 Aug 26;8(8):e72299. doi: 10.1371/journal.pone.0072299. eCollection 2013.


A new tool improves diagnostic test performance for transmission em evaluation of axonemal dynein arms.

Funkhouser WK 3rd, Niethammer M, Carson JL, Burns KA, Knowles MR, Leigh MW, Zariwala MA, Funkhouser WK Jr.

Ultrastruct Pathol. 2014 Aug;38(4):248-55. doi: 10.3109/01913123.2013.815081. Epub 2013 Aug 19.

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