Tay Sachs disease in Australia: reduced disease incidence despite stable carrier frequency in Australian Jews
Lew, Raelia M, Proos, Anne L, Burnett, Leslie, Delatycki, Martin, Bankier, Agnes, Fietz, Michael J
Published in Medical journal of Australia (01.12.2012)
Published in Medical journal of Australia (01.12.2012)
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Journal Article
Newborn screening for lysosomal storage disorders
Meikle, Peter J., Grasby, Dallas J., Dean, Caroline J., Lang, Debbie L., Bockmann, Michelle, Whittle, Alison M., Fietz, Michael J., Simonsen, Henrik, Fuller, Maria, Brooks, Douglas A., Hopwood, John J.
Published in Molecular genetics and metabolism (01.08.2006)
Published in Molecular genetics and metabolism (01.08.2006)
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Journal Article
Klinefelter Syndrome with Fabry Disease – a Case of Nondisjunction of the X-chromosome with Sex-linked Recessive Mutation
Sadick, Victoria J., BAppSc(Hons), Fietz, Michael J., PhD, Tchan, Michel C., MBBS, PhD, Kovoor, Pramesh, MBBS, PhD, Thomas, Liza, MBBS, PhD, Sadick, Norman, MBBS, PhD
Published in Heart, lung & circulation (01.12.2014)
Published in Heart, lung & circulation (01.12.2014)
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Journal Article
Identification of an unusual variant peroxisome biogenesis disorder caused by mutations in the PEX16 gene
Ebberink, Merel S, Csanyi, Barbara, Chong, Wui K, Denis, Simone, Sharp, Peter, Mooijer, Petra A W, Dekker, Conny J M, Spooner, Claire, Ngu, Lock H, De Sousa, Carlos, Wanders, Ronald J A, Fietz, Michael J, Clayton, Peter T, Waterham, Hans R, Ferdinandusse, Sacha
Published in Journal of medical genetics (01.09.2010)
Published in Journal of medical genetics (01.09.2010)
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Journal Article
Diagnosis of lysosomal storage disorders: current techniques and future directions
Meikle, Peter J, Fietz, Michael J, Hopwood, John J
Published in Expert review of molecular diagnostics (01.09.2004)
Published in Expert review of molecular diagnostics (01.09.2004)
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Journal Article
Gene symbol: TPP1. Disease: Neuronal Ceroid Lipofuscinosis, late infantile
Kohan, Romina, Muller, Vivien J, Fietz, Michael J, Cismondi, Adriana I, Oller Ramírez, Ana M, Halac, Inés Noher
Published in Human genetics (01.06.2008)
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Published in Human genetics (01.06.2008)
Journal Article
Functional analysis in Drosophila indicates that the NBCCS/PTCH1 mutation G509V results in activation of smoothened through a dominant‐negative mechanism
Hime, Gary R., Lada, Hania, Fietz, Michael J., Gillies, Susan, Passmore, Abraham, Wicking, Carol, Wainwright, Brandon J.
Published in Developmental dynamics (01.04.2004)
Published in Developmental dynamics (01.04.2004)
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Journal Article
Correlation among Genotype, Phenotype, and Biochemical Markers in Gaucher Disease: Implications for the Prediction of Disease Severity
Whitfield, Phillip D., Nelson, Paul, Sharp, Peter C., Bindloss, Colleen A., Dean, Caroline, Ravenscroft, Elaine M., Fong, Beverley A., Fietz, Michael J., Hopwood, John J., Meikle, Peter J.
Published in Molecular genetics and metabolism (01.01.2002)
Published in Molecular genetics and metabolism (01.01.2002)
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Journal Article
Analysis of the sheep trichohyalin gene: potential structural and calcium-binding roles of trichohyalin the the hair follicle
Fietz, M.J. (University of Oxford, Oxford, UK), McLaughlan, C.J, Campbell, M.T, Rogers, G.E
Published in The Journal of cell biology (01.05.1993)
Published in The Journal of cell biology (01.05.1993)
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Journal Article
Mapping of the Trichohyalin Gene: Co-Localization with the Profilaggrin, Involucrin, and Loricrin Genes
Fietz, Michael J, Rogers, George E, Eyre, Helen J, Baker, Elizabeth, Callen, David F, Sutherland, Grant R
Published in Journal of investigative dermatology (01.11.1992)
Published in Journal of investigative dermatology (01.11.1992)
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Journal Article
Conference Proceeding
The hedgehog gene family in Drosophila and vertebrate development
Fietz, M J, Concordet, J P, Barbosa, R, Johnson, R, Krauss, S, McMahon, A P, Tabin, C, Ingham, P W
Published in Development (Cambridge) (1994)
Published in Development (Cambridge) (1994)
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Journal Article
Trichohyalin and matrix proteins
Rogers, G E, Fietz, M J, Fratini, A
Published in Annals of the New York Academy of Sciences (26.12.1991)
Published in Annals of the New York Academy of Sciences (26.12.1991)
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Journal Article
Clustered Arrangement of Keratin Intermediate Filament Genes
Powell, Barry C., Cam, Graham R., Fietz, Michael J., Rogers, George E.
Published in Proceedings of the National Academy of Sciences - PNAS (01.07.1986)
Published in Proceedings of the National Academy of Sciences - PNAS (01.07.1986)
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Journal Article