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Page 1
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: mitchison hm. 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.
Mutations in DNAH5 cause primary ciliary dyskinesia and randomization of left-right asymmetry.
Olbrich H, Häffner K, Kispert A, Völkel A, Volz A, Sasmaz G, Reinhardt R, Hennig S, Lehrach H, Konietzko N, Zariwala M, Noone PG, Knowles M, Mitchison HM, Meeks M, Chung EM, Hildebrandt F, Sudbrak R, Omran H. Olbrich H, et al. Among authors: mitchison hm. Nat Genet. 2002 Feb;30(2):143-4. doi: 10.1038/ng817. Epub 2002 Jan 14. Nat Genet. 2002. PMID: 11788826
Mutations in the DNAH11 (axonemal heavy chain dynein type 11) gene cause one form of situs inversus totalis and most likely primary ciliary dyskinesia.
Bartoloni L, Blouin JL, Pan Y, Gehrig C, Maiti AK, Scamuffa N, Rossier C, Jorissen M, Armengot M, Meeks M, Mitchison HM, Chung EM, Delozier-Blanchet CD, Craigen WJ, Antonarakis SE. Bartoloni L, et al. Among authors: mitchison hm. Proc Natl Acad Sci U S A. 2002 Aug 6;99(16):10282-6. doi: 10.1073/pnas.152337699. Epub 2002 Jul 25. Proc Natl Acad Sci U S A. 2002. PMID: 12142464 Free PMC article.
Cilia, primary ciliary dyskinesia and molecular genetics.
Chodhari R, Mitchison HM, Meeks M. Chodhari R, et al. Among authors: mitchison hm. Paediatr Respir Rev. 2004 Mar;5(1):69-76. doi: 10.1016/j.prrv.2003.09.005. Paediatr Respir Rev. 2004. PMID: 15222957 Review.
Handedness and situs inversus in primary ciliary dyskinesia.
McManus IC, Martin N, Stubbings GF, Chung EM, Mitchison HM. McManus IC, et al. Among authors: mitchison hm. Proc Biol Sci. 2004 Dec 22;271(1557):2579-82. doi: 10.1098/rspb.2004.2881. Proc Biol Sci. 2004. PMID: 15615683 Free PMC article.
Mutations of DNAI1 in primary ciliary dyskinesia: evidence of founder effect in a common mutation.
Zariwala MA, Leigh MW, Ceppa F, Kennedy MP, Noone PG, Carson JL, Hazucha MJ, Lori A, Horvath J, Olbrich H, Loges NT, Bridoux AM, Pennarun G, Duriez B, Escudier E, Mitchison HM, Chodhari R, Chung EM, Morgan LC, de Iongh RU, Rutland J, Pradal U, Omran H, Amselem S, Knowles MR. Zariwala MA, et al. Among authors: mitchison hm. Am J Respir Crit Care Med. 2006 Oct 15;174(8):858-66. doi: 10.1164/rccm.200603-370OC. Epub 2006 Jul 20. Am J Respir Crit Care Med. 2006. PMID: 16858015 Free PMC article.
Primary ciliary dyskinesia: current state of the art.
Bush A, Chodhari R, Collins N, Copeland F, Hall P, Harcourt J, Hariri M, Hogg C, Lucas J, Mitchison HM, O'Callaghan C, Phillips G. Bush A, et al. Among authors: mitchison hm. Arch Dis Child. 2007 Dec;92(12):1136-40. doi: 10.1136/adc.2006.096958. Epub 2007 Jul 18. Arch Dis Child. 2007. PMID: 17634184 Free PMC article. Review.
Genome-wide high-density SNP-based linkage analysis of infantile hypertrophic pyloric stenosis identifies loci on chromosomes 11q14-q22 and Xq23.
Everett KV, Chioza BA, Georgoula C, Reece A, Capon F, Parker KA, Cord-Udy C, McKeigue P, Mitton S, Pierro A, Puri P, Mitchison HM, Chung EM, Gardiner RM. Everett KV, et al. Among authors: mitchison hm. Am J Hum Genet. 2008 Mar;82(3):756-62. doi: 10.1016/j.ajhg.2007.12.023. Epub 2008 Feb 28. Am J Hum Genet. 2008. PMID: 18308288 Free PMC article.
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. Loges NT, et al. Among authors: mitchison hm. Am J Hum Genet. 2008 Nov;83(5):547-58. doi: 10.1016/j.ajhg.2008.10.001. Epub 2008 Oct 23. Am J Hum Genet. 2008. PMID: 18950741 Free PMC article.
137 results