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The Palestinian primary ciliary dyskinesia population: first results of the diagnostic and genetic spectrum.
Rumman N, Fassad MR, Driessens C, Goggin P, Abdelrahman N, Adwan A, Albakri M, Chopra J, Doherty R, Fashho B, Freke GM, Hasaballah A, Jackson CL, Mohamed MA, Abu Nema R, Patel MP, Pengelly RJ, Qaaqour A, Rubbo B, Thomas NS, Thompson J, Walker WT, Wheway G, Mitchison HM, Lucas JS. Rumman N, et al. Among authors: goggin p. ERJ Open Res. 2023 Apr 17;9(2):00714-2022. doi: 10.1183/23120541.00714-2022. eCollection 2023 Mar. ERJ Open Res. 2023. PMID: 37077557 Free PMC article.
Mutations in CCDC39 and CCDC40 are the major cause of primary ciliary dyskinesia with axonemal disorganization and absent inner dynein arms.
Antony D, Becker-Heck A, Zariwala MA, Schmidts M, Onoufriadis A, Forouhan M, Wilson R, Taylor-Cox T, Dewar A, Jackson C, Goggin P, Loges NT, Olbrich H, Jaspers M, Jorissen M, Leigh MW, Wolf WE, Daniels ML, Noone PG, Ferkol TW, Sagel SD, Rosenfeld M, Rutman A, Dixit A, O'Callaghan C, Lucas JS, Hogg C, Scambler PJ, Emes RD; Uk10k; Chung EM, Shoemark A, Knowles MR, Omran H, Mitchison HM. Antony D, et al. Among authors: goggin p. Hum Mutat. 2013 Mar;34(3):462-72. doi: 10.1002/humu.22261. Epub 2013 Feb 11. Hum Mutat. 2013. PMID: 23255504 Free PMC article.
Diagnosis and management of primary ciliary dyskinesia.
Lucas JS, Burgess A, Mitchison HM, Moya E, Williamson M, Hogg C; National PCD Service, UK. Lucas JS, et al. Arch Dis Child. 2014 Sep;99(9):850-6. doi: 10.1136/archdischild-2013-304831. Epub 2014 Apr 25. Arch Dis Child. 2014. PMID: 24771309 Free PMC article. Review.
103 results