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Measurement of the clinical utility of a combined mutation detection protocol in carriers of Duchenne and Becker muscular dystrophy.
Taylor PJ, Maroulis S, Mullan GL, Pedersen RL, Baumli A, Elakis G, Piras S, Walsh C, Prósper-Gutiérrez B, De La Puente-Alonso F, Bell CG, Mowat DR, Johnston HM, Buckley MF. Taylor PJ, et al. Among authors: buckley mf. J Med Genet. 2007 Jun;44(6):368-72. doi: 10.1136/jmg.2006.047464. Epub 2007 Jan 26. J Med Genet. 2007. PMID: 17259292 Free PMC article.
In utero fetal muscle biopsy in the diagnosis of Duchenne muscular dystrophy.
Ladwig D, Mowat D, Tobias V, Taylor PJ, Buckley MF, McNally G, Challis D. Ladwig D, et al. Among authors: buckley mf. Aust N Z J Obstet Gynaecol. 2002 Feb;42(1):79-82. doi: 10.1111/j.0004-8666.2002.00085.x. Aust N Z J Obstet Gynaecol. 2002. PMID: 11926646 No abstract available.
Mutations in the gene encoding the PML nuclear body protein Sp110 are associated with immunodeficiency and hepatic veno-occlusive disease.
Roscioli T, Cliffe ST, Bloch DB, Bell CG, Mullan G, Taylor PJ, Sarris M, Wang J, Donald JA, Kirk EP, Ziegler JB, Salzer U, McDonald GB, Wong M, Lindeman R, Buckley MF. Roscioli T, et al. Among authors: buckley mf. Nat Genet. 2006 Jun;38(6):620-2. doi: 10.1038/ng1780. Epub 2006 Apr 30. Nat Genet. 2006. PMID: 16648851 Free article.
Breast cancer risk is not increased in individuals with TWIST1 mutation confirmed Saethre-Chotzen syndrome: an Australian multicenter study.
James PA, Culling B, Mullan G, Jenkins M, Elakis G, Turner AM, Mowat DM, Wilson M, Anderson P, Savarirayan R, Cliffe ST, Caramins M, Buckley MF, Tucker K, Roscioli T. James PA, et al. Among authors: buckley mf. Genes Chromosomes Cancer. 2009 Jul;48(7):533-8. doi: 10.1002/gcc.20661. Genes Chromosomes Cancer. 2009. PMID: 19373776
79 results