Search Results - "Fietz, M J"

Molecular testing of 163 patients with Morquio A (Mucopolysaccharidosis IVA) identifies 39 novel GALNS mutations by 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.

“…Morquio A (Mucopolysaccharidosis IVA; MPS IVA) is an autosomal recessive lysosomal storage disorder caused by partial or total deficiency of the enzyme…”
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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 by Kohan, R, Cismondi, IA, Dodelson Kremer, R, Muller, VJ, Guelbert, N, Tapia Anzolini, V, Fietz, MJ, Oller Ramírez, AM, Noher Halac, I

“…The neuronal ceroid lipofuscinoses (NCLs) are a family of progressive neurodegenerative diseases that are characterized by the cellular accumulation of ceroid…”
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Six novel NPC1 mutations in Chinese patients with Niemann–Pick disease type C by Yang, C-C, Su, Y-N, Chiou, P-C, Fietz, M J, Yu, C-L, Hwu, W-L, Lee, M-J

“…In patients with Niemann–Pick disease type C (NPC), an autosomal recessive lipid storage disorder, neurodegeneration can occur in early life. Vertical…”
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Quantitative effects of hedgehog and decapentaplegic activity on the patterning of the Drosophila wing by Ingham, P.W., Fietz, M.J.

“…Background: Members of the hedgehog (hh) gene family encode a novel class of proteins implicated in positional signalling in both invertebrates and…”
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Identification of an unusual variant peroxisome biogenesis disorder caused by mutations in the PEX16 gene by 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

“…Zellweger syndrome spectrum disorders are caused by mutations in any of at least 12 different PEX genes. This includes PEX16, which encodes an integral…”
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Screening patients referred to a metabolic clinic for lysosomal storage disorders by Fuller, Maria, Tucker, Justin N, Lang, Debbie L, Dean, Caroline J, Fietz, Michael J, Meikle, Peter J, Hopwood, John J

“…Lysosomal protein profiling is being developed as a high throughput method to screen populations for lysosomal storage disorders (LSD). 1415 blood spots from…”
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Molecular analysis of genomic DNA allows rapid, and accurate, prenatal diagnosis of peroxisomal D-bifunctional protein deficiency by Paton, B. C., Solly, P. B., Nelson, P. V., Pollard, A. N., Sharp, P. C., Fietz, M. J.

“…Prenatal diagnosis was requested for a couple with a previous child affected by the peroxisomal disorder D‐bifunctional protein deficiency. Prior analysis of…”
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Analysis of the sheep trichohyalin gene: potential structural and calcium-binding roles of trichohyalin the the hair follicle by Fietz, M.J. (University of Oxford, Oxford, UK), McLaughlan, C.J, Campbell, M.T, Rogers, G.E

“…Trichohyalin is a structural protein that is produced and retained in the cells of the inner root sheath and medulla of the hair follicle. The gene for sheep…”
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Secretion of the amino-terminal fragment of the Hedgehog protein is necessary and sufficient for hedgehog signalling in Drosophila by Fietz, M.J., Jacinto, A., Taylor, A.M., Alexandre, C., Ingham, P.W.

“…Background: The Drosophila segment polarity gene hedgehog encodes a member of a family of secreted proteins that are involved in a variety of patterning…”
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Analysis of CFTR mutation screening in cases of isolated fetal echogenic bowel in the South Australian population by Nicholls, C. M., Nelson, P. V., Poplawski, N. K., Chin, S. J., Fong, B. A., Solly, P. B., Fietz, M. J., Fletcher, J. M.

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The cDNA-Deduced Amino Acid Sequence for Trichohyalin, A Differentiation Marker in the Hair Follicle, Contains a 23 Amino Acid Repeat by Fietz, Michael J., Presland, Richard B., Rogers, George E.

“…Trichohyalin is a highly expressed protein within the inner root sheath of hair follicles and is similar, or identical, to a protein present in the hair…”
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Hemangioma of the small intestine: case report and literature review by Ramanujam, P S, Venkatesh, K S, Bettinger, L, Hayashi, J T, Rothman, M C, Fietz, M J

“…One case of small bowel polypoid hemangioma of the jejunum presenting as recurrent gastrointestinal blood loss is reported. The presenting symptoms and…”
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Study of human papillomavirus infection in patients with anal squamous carcinoma by Ramanujam, P S, Venkatesh, K S, Co Barnett, T, Fietz, M J

“…The purpose of this study was to determine the incidence of human papillomavirus deoxyribonucleic acid (HPV DNA) in anal squamous carcinoma. HPV DNA in situ…”
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Clustered Arrangement of Keratin Intermediate Filament Genes by Powell, Barry C., Cam, Graham R., Fietz, Michael J., Rogers, George E.

“…We report here that component members of the keratin intermediate filament (IF) type I and type II gene families of sheep are closely linked but apparently the…”
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Mapping of the Trichohyalin Gene: Co-Localization with the Profilaggrin, Involucrin, and Loricrin Genes by Fietz, Michael J, Rogers, George E, Eyre, Helen J, Baker, Elizabeth, Callen, David F, Sutherland, Grant R

“…The chromosomal location of the gene encoding the human hair follicle protein trichohyalin has been determined by in situ hybridization. The human gene has…”
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An Australasian diagnostic service for the neuronal ceroid lipofuscinoses by Muller, Vivienne J., Paton, Barbara C., Fietz, Michael I.

“…The neuronal ceroid lipofuscinoses (NCLs) are a family of related genetic disorders that together are believed to affect one child in every 12 500 births in…”
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The hedgehog gene family in Drosophila and vertebrate development by Fietz, M J, Concordet, J P, Barbosa, R, Johnson, R, Krauss, S, McMahon, A P, Tabin, C, Ingham, P W

“…The segment polarity gene hedgehog plays a central role in cell patterning during embryonic and post-embryonic development of the dipteran, Drosophila…”
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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] by 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.

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Perineal excision of rectal procidentia in elderly high-risk patients. A ten-year experience by Ramanujam, P S, Venkatesh, K S, Fietz, M J

“…This report presents a ten-year experience with perineal excision and posterior levator ani repair in elderly, high-risk patients with complete rectal…”
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Diagnosis of lysosomal storage disorders: current techniques and future directions by Meikle, Peter J, Fietz, Michael J, Hopwood, John J

“…Lysosomal storage disorders represent a group of over 45 distinct genetic diseases. The broad spectrum of clinical presentation of this group of disorders has…”
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