22 results for author:"Delatycki M.B." in Literature citations
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| FXN methylation predicts expression and clinical outcome in Friedreich ataxia. Evans-Galea M.V., Carrodus N., Rowley S.M., Corben L.A., Tai G., Saffery R., Galati J.C., Wong N.C., Craig J.M., Lynch D.R. et al. Ann. Neurol. 71:487-497(2012) · Mapped (3) |
| A novel deletion-insertion mutation identified in exon 3 of FXN in two siblings with a severe Friedreich ataxia phenotype. Evans-Galea M.V., Corben L.A., Hasell J., Galea C.A., Fahey M.C., du Sart D., Delatycki M.B. Neurogenetics 12:307-313(2011) · Mapped (3) |
| A polymorphic miR-155 binding site in AGTR1 is associated with cardiac hypertrophy in Friedreich ataxia. Kelly M., Bagnall R.D., Peverill R.E., Donelan L., Corben L., Delatycki M.B., Semsarian C. J. Mol. Cell. Cardiol. 51:848-854(2011) · Mapped (5) |
| Long range regulation of human FXN gene expression. Puspasari N., Rowley S.M., Gordon L., Lockhart P.J., Ioannou P.A., Delatycki M.B., Sarsero J.P. PLoS ONE 6:e22001-e22001(2011) · Mapped (3) |
| Early changes in left ventricular long-axis function in Friedreich ataxia: relation with the FXN gene mutation and cardiac structural change. Mottram P.M., Delatycki M.B., Donelan L., Gelman J.S., Corben L., Peverill R.E. J Am Soc Echocardiogr 24:782-789(2011) · Mapped (3) |
| Human and mouse mutations in WDR35 cause short-rib polydactyly syndromes due to abnormal ciliogenesis. Mill P., Lockhart P.J., Fitzpatrick E., Mountford H.S., Hall E.A., Reijns M.A., Keighren M., Bahlo M., Bromhead C.J., Budd P. et al. Am. J. Hum. Genet. 88:508-515(2011) · UniProtKB (2) · Mapped (6) |
| Deletion of the Parkin co-regulated gene causes defects in ependymal ciliary motility and hydrocephalus in the quakingviable mutant mouse. Wilson G.R., Wang H.X., Egan G.F., Robinson P.J., Delatycki M.B., O'Bryan M.K., Lockhart P.J. Hum. Mol. Genet. 19:1593-1602(2010) · Mapped (6) |
| Mutant torsinA interacts with tyrosine hydroxylase in cultured cells. O'Farrell C.A., Martin K.L., Hutton M., Delatycki M.B., Cookson M.R., Lockhart P.J. Neuroscience 164:1127-1137(2009) · Mapped (21) |
| A novel association between a SNP in CYBRD1 and serum ferritin levels in a cohort study of HFE hereditary haemochromatosis. Constantine C.C., Anderson G.J., Vulpe C.D., McLaren C.E., Bahlo M., Yeap H.L., Gertig D.M., Osborne N.J., Bertalli N.A., Beckman K.B. et al. Br. J. Haematol. 147:140-149(2009) · UniProtKB (1) |
| Expression and localization of the Parkin co-regulated gene in mouse CNS suggests a role in ependymal cilia function. Wilson G.R., Tan J.T., Brody K.M., Taylor J.M., Delatycki M.B., Lockhart P.J. Neurosci. Lett. 460:97-101(2009) · Mapped (3) |
| Molecular analysis of the PArkin co-regulated gene and association with male infertility. Wilson G.R., Sim M.L., Brody K.M., Taylor J.M., McLachlan R.I., O'Bryan M.K., Delatycki M.B., Lockhart P.J. Fertil. Steril. 93:2262-2268(2010) · Mapped (2) |
| Analysis of PArkin Co-Regulated Gene in a Taiwanese-ethnic Chinese cohort with early-onset Parkinson's disease. Taylor J.M., Wu R.M., Farrer M.J., Delatycki M.B., Lockhart P.J. Parkinsonism Relat. Disord. 15:417-421(2009) · Mapped (2) |
| Lack of evidence for association of a parkin promoter polymorphism with early-onset Parkinson's disease in a Chinese population. Taylor J.M., Wu R.M., Lin C.H., Delatycki M.B., Lockhart P.J. Parkinsonism Relat. Disord. 15:149-152(2009) · Mapped (17) |
| Regional and cellular localisation of Parkin co-regulated gene in developing and adult mouse brain. Brody K.M., Taylor J.M., Wilson G.R., Delatycki M.B., Lockhart P.J. Brain Res. 1201:177-186(2008) · Mapped (3) |
| C-terminal truncations in human 3'-5' DNA exonuclease TREX1 cause autosomal dominant retinal vasculopathy with cerebral leukodystrophy. Richards A., van den Maagdenberg A.M.J.M., Jen J.C., Kavanagh D., Bertram P., Spitzer D., Liszewski M.K., Barilla-Labarca M.-L., Terwindt G.M., Kasai Y. et al. Nat. Genet. 39:1068-1070(2007) · UniProtKB (1) |
| Parkin Co-Regulated Gene (PACRG) is regulated by the ubiquitin-proteasomal system and is present in the pathological features of Parkinsonian diseases. Taylor J.M., Song Y.J., Huang Y., Farrer M.J., Delatycki M.B., Halliday G.M., Lockhart P.J. Neurobiol. Dis. 27:238-247(2007) · Mapped (2) |
| Replication-mediated instability of the GAA triplet repeat mutation in Friedreich ataxia. Pollard L.M., Sharma R., Gomez M., Shah S., Delatycki M.B., Pianese L., Monticelli A., Keats B.J., Bidichandani S.I. Nucleic Acids Res. 32:5962-5971(2004) · Mapped (3) |
| Mutations in the FTSJ1 gene coding for a novel S-adenosylmethionine-binding protein cause nonsyndromic X-linked mental retardation. Freude K., Hoffmann K., Jensen L.-R., Delatycki M.B., des Portes V., Moser B., Hamel B.C.J., van Bokhoven H., Moraine C., Fryns J.-P. et al. Am. J. Hum. Genet. 75:305-309(2004) · UniProtKB (1) · Mapped (2) |
| A homozygous HAMP mutation in a multiply consanguineous family with pseudo-dominant juvenile hemochromatosis. Delatycki M.B., Allen K.J., Gow P., MacFarlane J., Radomski C., Thompson J., Hayden M.R., Goldberg Y.P., Samuels M.E. Clin. Genet. 65:378-383(2004) · UniProtKB (1) |
| Mutations in PHF6 are associated with Boerjeson-Forssman-Lehmann syndrome. Lower K.M., Turner G., Kerr B.A., Mathews K.D., Shaw M.A., Gedeon A.K., Schelley S., Hoyme H.E., White S.M., Delatycki M.B. et al. |
| The correlation of clinical phenotype in Friedreich ataxia with the site of point mutations in the FRDA gene. Forrest S.M., Knight M., Delatycki M.B., Paris D., Williamson R., King J., Yeung L., Nassif N., Nicholson G.A. Neurogenetics 1:253-257(1998) · UniProtKB (1) |
| G130V, a common FRDA point mutation, appears to have arisen from a common founder. Delatycki M.B., Knight M., Koenig M., Cossee M., Williamson R., Forrest S.M. Hum. Genet. 105:343-346(1999) · Mapped (1) |