Molecular testing of 163 patients with Morquio A (Mucopolysaccharidosis IVA) identifies 39 novel GALNS mutations
Morrone, A., Tylee, K.L., Al-Sayed, M., Brusius-Facchin, A.C., Caciotti, A., Church, H.J., Coll, M.J., Davidson, K., Fietz, M.J., Gort, L., Hegde, M., Kubaski, F., Lacerda, L., Laranjeira, F., Leistner-Segal, S., Mooney, S., Pajares, S., Pollard, L., Ribeiro, I., Wang, R.Y., Miller, N.
Published in Molecular genetics and metabolism (01.06.2014)
Published in Molecular genetics and metabolism (01.06.2014)
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An integrated strategy for the diagnosis of neuronal ceroid lipofuscinosis types 1 (CLN1) and 2 (CLN2) in eleven Latin American patients
Kohan, R, Cismondi, IA, Dodelson Kremer, R, Muller, VJ, Guelbert, N, Tapia Anzolini, V, Fietz, MJ, Oller Ramírez, AM, Noher Halac, I
Published in Clinical genetics (01.10.2009)
Published in Clinical genetics (01.10.2009)
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Six novel NPC1 mutations in Chinese patients with Niemann–Pick disease type C
Yang, C-C, Su, Y-N, Chiou, P-C, Fietz, M J, Yu, C-L, Hwu, W-L, Lee, M-J
Published in Journal of neurology, neurosurgery and psychiatry (01.04.2005)
Published in Journal of neurology, neurosurgery and psychiatry (01.04.2005)
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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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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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Analysis of CFTR mutation screening in cases of isolated fetal echogenic bowel in the South Australian population
Nicholls, C. M., Nelson, P. V., Poplawski, N. K., Chin, S. J., Fong, B. A., Solly, P. B., Fietz, M. J., Fletcher, J. M.
Published in Prenatal diagnosis (15.12.2003)
Published in Prenatal diagnosis (15.12.2003)
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Hemangioma of the small intestine: case report and literature review
Ramanujam, P S, Venkatesh, K S, Bettinger, L, Hayashi, J T, Rothman, M C, Fietz, M J
Published in The American journal of gastroenterology (01.11.1995)
Published in The American journal of gastroenterology (01.11.1995)
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Study of human papillomavirus infection in patients with anal squamous carcinoma
Ramanujam, P S, Venkatesh, K S, Co Barnett, T, Fietz, M J
Published in Diseases of the colon & rectum (01.01.1996)
Published in Diseases of the colon & rectum (01.01.1996)
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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
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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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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Corrigendum to “Molecular testing of 163 patients with Morquio A (Mucopolysaccharidosis IVA) identifies 39 novel GALNS mutations” [Mol. Genet. Metab. 112 (2014) 160–170]
Morrone, A., Tylee, K.L., Al-Sayed, M., Brusius-Facchin, A.C., Caciotti, A., Church, H.J., Coll, M.J., Davidson, K., Fietz, M.J., Gort, L., Hegde, M., Kubaski, F., Lacerda, L., Laranjeira, F., Leistner-Segal, S., Mooney, S., Pajares, S., Pollard, L., Ribeiro, I., Wang, R.Y., Miller, N.
Published in Molecular genetics and metabolism (01.11.2014)
Published in Molecular genetics and metabolism (01.11.2014)
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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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