227 related articles for article (PubMed ID: 24516614)
1. Ciliary genes are down-regulated in bronchial tissue of primary ciliary dyskinesia patients.
Geremek M; Ziętkiewicz E; Bruinenberg M; Franke L; Pogorzelski A; Wijmenga C; Witt M
PLoS One; 2014; 9(2):e88216. PubMed ID: 24516614
[TBL] [Abstract][Full Text] [Related]
2. [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]
3. Mutations in radial spoke head genes and ultrastructural cilia defects in East-European cohort of primary ciliary dyskinesia patients.
Ziętkiewicz E; Bukowy-Bieryłło Z; Voelkel K; Klimek B; Dmeńska H; Pogorzelski A; Sulikowska-Rowińska A; Rutkiewicz E; Witt M
PLoS One; 2012; 7(3):e33667. PubMed ID: 22448264
[TBL] [Abstract][Full Text] [Related]
4. 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]
5. 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]
6. Gene expression studies in cells from primary ciliary dyskinesia patients identify 208 potential ciliary genes.
Geremek M; Bruinenberg M; Ziętkiewicz E; Pogorzelski A; Witt M; Wijmenga C
Hum Genet; 2011 Mar; 129(3):283-93. PubMed ID: 21136274
[TBL] [Abstract][Full Text] [Related]
7. Mutations in DNAJB13, Encoding an HSP40 Family Member, Cause Primary Ciliary Dyskinesia and Male Infertility.
El Khouri E; Thomas L; Jeanson L; Bequignon E; Vallette B; Duquesnoy P; Montantin G; Copin B; Dastot-Le Moal F; Blanchon S; Papon JF; Lorès P; Yuan L; Collot N; Tissier S; Faucon C; Gacon G; Patrat C; Wolf JP; Dulioust E; Crestani B; Escudier E; Coste A; Legendre M; Touré A; Amselem S
Am J Hum Genet; 2016 Aug; 99(2):489-500. PubMed ID: 27486783
[TBL] [Abstract][Full Text] [Related]
8. ZMYND10--Mutation Analysis in Slavic Patients with Primary Ciliary Dyskinesia.
Kurkowiak M; Ziętkiewicz E; Greber A; Voelkel K; Wojda A; Pogorzelski A; Witt M
PLoS One; 2016; 11(1):e0148067. PubMed ID: 26824761
[TBL] [Abstract][Full Text] [Related]
9. Identification of predicted human outer dynein arm genes: candidates for primary ciliary dyskinesia genes.
Pazour GJ; Agrin N; Walker BL; Witman GB
J Med Genet; 2006 Jan; 43(1):62-73. PubMed ID: 15937072
[TBL] [Abstract][Full Text] [Related]
10. Cilia motility and structure in primary and secondary ciliary dyskinesia.
Armengot M; Milara J; Mata M; Carda C; Cortijo J
Am J Rhinol Allergy; 2010; 24(3):175-80. PubMed ID: 20537282
[TBL] [Abstract][Full Text] [Related]
11. 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]
12. Biallelic Variants in
Shi X; Geng H; Yu H; Hu X; Wang G; Yang J; Zhao H
Biomed Res Int; 2022; 2022():7130555. PubMed ID: 35795318
[TBL] [Abstract][Full Text] [Related]
13. Mice with a Deletion of
Yin W; Livraghi-Butrico A; Sears PR; Rogers TD; Burns KA; Grubb BR; Ostrowski LE
Am J Respir Cell Mol Biol; 2019 Sep; 61(3):312-321. PubMed ID: 30896965
[TBL] [Abstract][Full Text] [Related]
14. Ciliary ultrastructure in patients with chronic rhinosinusitis and primary ciliary dyskinesia.
Demarco RC; Tamashiro E; Rossato M; Ferreira MD; Valera FC; Anselmo-Lima WT
Eur Arch Otorhinolaryngol; 2013 Jul; 270(7):2065-70. PubMed ID: 23292041
[TBL] [Abstract][Full Text] [Related]
15. Primary ciliary dyskinesia: evaluation using cilia beat frequency assessment via spectral analysis of digital microscopy images.
Olm MA; Kögler JE; Macchione M; Shoemark A; Saldiva PH; Rodrigues JC
J Appl Physiol (1985); 2011 Jul; 111(1):295-302. PubMed ID: 21551013
[TBL] [Abstract][Full Text] [Related]
16. 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]
17. Loss-of-function mutations in a human gene related to Chlamydomonas reinhardtii dynein IC78 result in primary ciliary dyskinesia.
Pennarun G; Escudier E; Chapelin C; Bridoux AM; Cacheux V; Roger G; Clément A; Goossens M; Amselem S; Duriez B
Am J Hum Genet; 1999 Dec; 65(6):1508-19. PubMed ID: 10577904
[TBL] [Abstract][Full Text] [Related]
18. RSPH3 Mutations Cause Primary Ciliary Dyskinesia with Central-Complex Defects and a Near Absence of Radial Spokes.
Jeanson L; Copin B; Papon JF; Dastot-Le Moal F; Duquesnoy P; Montantin G; Cadranel J; Corvol H; Coste A; Désir J; Souayah A; Kott E; Collot N; Tissier S; Louis B; Tamalet A; de Blic J; Clement A; Escudier E; Amselem S; Legendre M
Am J Hum Genet; 2015 Jul; 97(1):153-62. PubMed ID: 26073779
[TBL] [Abstract][Full Text] [Related]
19. Loss-of-function mutations in LRRC6, a gene essential for proper axonemal assembly of inner and outer dynein arms, cause primary ciliary dyskinesia.
Kott E; Duquesnoy P; Copin B; Legendre M; Dastot-Le Moal F; Montantin G; Jeanson L; Tamalet A; Papon JF; Siffroi JP; Rives N; Mitchell V; de Blic J; Coste A; Clement A; Escalier D; Touré A; Escudier E; Amselem S
Am J Hum Genet; 2012 Nov; 91(5):958-64. PubMed ID: 23122589
[TBL] [Abstract][Full Text] [Related]
20. 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; 2016 Sep; 10(5):614-21. PubMed ID: 25619595
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
