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Pathogenic variants in CFAP46, CFAP54, CFAP74 and CFAP221 cause primary ciliary dyskinesia with a defective C1d projection of the central apparatus.
Wohlgemuth K, Hoersting N, Koenig J, Loges NT, Raidt J, George S, Cindrić S, Schramm A, Biebach L, Lay S, Dougherty GW, Olbrich H, Pennekamp P, Dworniczak B, Omran H. Wohlgemuth K, et al. Among authors: pennekamp p. Eur Respir J. 2024 Dec 12;64(6):2400790. doi: 10.1183/13993003.00790-2024. Print 2024 Dec. Eur Respir J. 2024. PMID: 39362668 Free PMC article.
Primary ciliary dyskinesia.
Raidt J, Loges NT, Olbrich H, Wallmeier J, Pennekamp P, Omran H. Raidt J, et al. Among authors: pennekamp p. Presse Med. 2023 Sep;52(3):104171. doi: 10.1016/j.lpm.2023.104171. Epub 2023 Jul 27. Presse Med. 2023. PMID: 37516247 Review.
Analyses of 1236 genotyped primary ciliary dyskinesia individuals identify regional clusters of distinct DNA variants and significant genotype-phenotype correlations.
Raidt J, Riepenhausen S, Pennekamp P, Olbrich H, Amirav I, Athanazio RA, Aviram M, Balinotti JE, Bar-On O, Bode SFN, Boon M, Borrelli M, Carr SB, Crowley S, Dehlink E, Diepenhorst S, Durdik P, Dworniczak B, Emiralioğlu N, Erdem E, Fonnesu R, Gracci S, Große-Onnebrink J, Gwozdziewicz K, Haarman EG, Hansen CR, Hogg C, Holgersen MG, Kerem E, Körner RW, Kötz K, Kouis P, Loebinger MR, Lorent N, Lucas JS, Maj D, Mall MA, Marthin JK, Martinu V, Mazurek H, Mitchison HM, Nöthe-Menchen T, Özçelik U, Pifferi M, Pogorzelski A, Ringshausen FC, Roehmel JF, Rovira-Amigo S, Rumman N, Schlegtendal A, Shoemark A, Sperstad Kennelly S, Staar BO, Sutharsan S, Thomas S, Ullmann N, Varghese J, von Hardenberg S, Walker WT, Wetzke M, Witt M, Yiallouros P, Zschocke A, Ziętkiewicz E, Nielsen KG, Omran H. Raidt J, et al. Among authors: pennekamp p. Eur Respir J. 2024 Aug 8;64(2):2301769. doi: 10.1183/13993003.01769-2023. Print 2024 Aug. Eur Respir J. 2024. PMID: 38871375 Free PMC article.
A range of 30-62% of functioning multiciliated airway cells is sufficient to maintain ciliary airway clearance.
Loges NT, Marthin JK, Raidt J, Olbrich H, Höben IM, Cindric S, Bracht D, König J, Rieck C, George S, Kloth TL, Wohlgemuth K, Pennekamp P, Dworniczak B, Holgersen MG, Römel J, Schmalstieg C, Aprea I, Mortensen J, Nielsen KG, Omran H. Loges NT, et al. Among authors: pennekamp p. Eur Respir J. 2024 Oct 10;64(4):2301441. doi: 10.1183/13993003.01441-2023. Print 2024 Oct. Eur Respir J. 2024. PMID: 38991708 Free PMC article.
ARMC4 mutations cause primary ciliary dyskinesia with randomization of left/right body asymmetry.
Hjeij R, Lindstrand A, Francis R, Zariwala MA, Liu X, Li Y, Damerla R, Dougherty GW, Abouhamed M, Olbrich H, Loges NT, Pennekamp P, Davis EE, Carvalho CM, Pehlivan D, Werner C, Raidt J, Köhler G, Häffner K, Reyes-Mugica M, Lupski JR, Leigh MW, Rosenfeld M, Morgan LC, Knowles MR, Lo CW, Katsanis N, Omran H. Hjeij R, et al. Among authors: pennekamp p. Am J Hum Genet. 2013 Aug 8;93(2):357-67. doi: 10.1016/j.ajhg.2013.06.009. Epub 2013 Jul 11. Am J Hum Genet. 2013. PMID: 23849778 Free PMC article.
Ciliary function and motor protein composition of human fallopian tubes.
Raidt J, Werner C, Menchen T, Dougherty GW, Olbrich H, Loges NT, Schmitz R, Pennekamp P, Omran H. Raidt J, et al. Among authors: pennekamp p. Hum Reprod. 2015 Dec;30(12):2871-80. doi: 10.1093/humrep/dev227. Epub 2015 Sep 15. Hum Reprod. 2015. PMID: 26373788
Loss-of-Function GAS8 Mutations Cause Primary Ciliary Dyskinesia and Disrupt the Nexin-Dynein Regulatory Complex.
Olbrich H, Cremers C, Loges NT, Werner C, Nielsen KG, Marthin JK, Philipsen M, Wallmeier J, Pennekamp P, Menchen T, Edelbusch C, Dougherty GW, Schwartz O, Thiele H, Altmüller J, Rommelmann F, Omran H. Olbrich H, et al. Among authors: pennekamp p. Am J Hum Genet. 2015 Oct 1;97(4):546-54. doi: 10.1016/j.ajhg.2015.08.012. Epub 2015 Sep 17. Am J Hum Genet. 2015. PMID: 26387594 Free PMC article.
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. Höben IM, et al. Among authors: pennekamp p. Am J Hum Genet. 2018 May 3;102(5):973-984. doi: 10.1016/j.ajhg.2018.03.025. Am J Hum Genet. 2018. PMID: 29727693 Free PMC article.
146 results