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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.
Spectrum of mutations in the Batten disease gene, CLN3.
Munroe PB, Mitchison HM, O'Rawe AM, Anderson JW, Boustany RM, Lerner TJ, Taschner PE, de Vos N, Breuning MH, Gardiner RM, Mole SE. Munroe PB, et al. Among authors: mitchison hm. Am J Hum Genet. 1997 Aug;61(2):310-6. doi: 10.1086/514846. Am J Hum Genet. 1997. PMID: 9311735 Free PMC article.
A locus for primary ciliary dyskinesia maps to chromosome 19q.
Meeks M, Walne A, Spiden S, Simpson H, Mussaffi-Georgy H, Hamam HD, Fehaid EL, Cheehab M, Al-Dabbagh M, Polak-Charcon S, Blau H, O'Rawe A, Mitchison HM, Gardiner RM, Chung E. Meeks M, et al. Among authors: mitchison hm. J Med Genet. 2000 Apr;37(4):241-4. doi: 10.1136/jmg.37.4.241. J Med Genet. 2000. PMID: 10745040 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.
Loci for primary ciliary dyskinesia map to chromosome 16p12.1-12.2 and 15q13.1-15.1 in Faroe Islands and Israeli Druze genetic isolates.
Jeganathan D, Chodhari R, Meeks M, Faeroe O, Smyth D, Nielsen K, Amirav I, Luder AS, Bisgaard H, Gardiner RM, Chung EM, Mitchison HM. Jeganathan D, et al. Among authors: mitchison hm. J Med Genet. 2004 Mar;41(3):233-40. doi: 10.1136/jmg.2003.014084. J Med Genet. 2004. PMID: 14985390 Free PMC article. No abstract available.
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.
139 results