2004 Research Publications

Altug Teber, O., Gillessen-Kaesbach, G., Fischer, S., Bohringer, S., Albrecht, B., Albert, A., Arslan-Kirchner, M., Haan, E., Hagedorn-Greiwe, M., Hammans, C., Henn, W., Hinkel, G.K., Konig, R., Kunstmann, E., Kunze, J., Neumann, L.M., Prott, E.C., Rauch, A., Rott, H.D., Seidel, H., Spranger, S., Sprengel, M., Zoll, B., Lohmann, D.R. & Wieczorek, D. (2004). Genotyping in 46 patients with tentative diagnosis of Treacher Collins syndrome revealed unexpected phenotypic variation. European Journal of Human Genetics 12, 879-890

Anson, D.S. (2004). The use of retroviral vectors for gene therapy-what are the risks? A review of retroviral pathogenesis and its relevance to retroviral vector-mediated gene delivery. Genetic Vaccines and Therapy 2, 9

Anson, D.S. & Limberis, M. (2004). An improved beta-galactosidase reporter gene. Journal of Biotechnology 108, 17-30

Bais, A.J., Gardner, A.E., McKenzie, O.L., Callen, D.F., Sutherland, G.R. & Kremmidiotis, G. (2004). Aberrant CBFA2T3B gene promoter methylation in breast tumors. Molecular Cancer 3, 22

Baumgaurt, K., Brown, S., Gold, M.e.a., Kemp, A., Loblay, R., Loh, R., Mitrou, D., Mullins, R., Peake, J., Ruhno, J., Said, M., Sinclair, J., Smith, V., Smith, W., Solley, G., Soutter, V., Tang, M. & Ziegler, J.(2004). ASCIA guidelines for prevention of food anaphylactic reactions in schools, preschools and child-care centers. Journal of Paediatrics and Child Health 40, 669-671

Belshe, R.B., Newman, F.K., Anderson, E.L., Wright, P.F., Karron, R.A., Tollefson, S., Henderson, F.W., Meissner, H.C., Madhi, S., Roberton, D., Marshall, H., Loh, R., Sly, P., Murphy, B., Tatem, J.M., Randolph, V., Hackell, J., Gruber, W. & Tsai, T.F. (2004). Evaluation of combined live, attenuated respiratory syncytial virus and parainfluenza 3 virus vaccines in infants and young children. Journal of Infectious Diseases 190, 2096-2103

Belshe, R.B., Newman, F.K., Tsai, T.F., Karron, R.A., Reisinger, K., Roberton, D., Marshall, H., Schwartz, R., King, J., Henderson, F.W., Rodriguez, W., Severs, J.M., Wright, P.F., Keyserling, H., Weinberg, G.A., Bromberg, K., Loh, R., Sly, P., McIntyre, P., Ziegler, J.B., Hackell, J., Deatly, A., Georgiu, A., Paschalis, M., Wu, S.L., Tatem, J.M., Murphy, B. & Anderson, E.(2004). Phase 2 evaluation of parainfluenza type 3 cold passage mutant 45 live attenuated vaccine in healthy children 6-18 months old. Journal of Infectious Diseases 189, 462-470

Berkovic, S., Serratosa, J., Phillips, H., Xiong, L., Andermann, E., Diaz-Otero, F., Gomez-Garre, P., Martin, M., Fernandez-Bullido, Y., Andermann, F., Lopes-Cendes, I., Dubeau, F., Desbiens, R., Scheffer, I., Wallace, R., Mulley, J. & Pandolfo, J. (2004). Familial partial epilepsy with variable foci: Clinical features and linkage to chromosome 22q12. Epilepsia 45, 1054-1060

Berkovic, S.F., Izzillo, P., McMahon, J.M., Harkin, L.A., McIntosh, A.M., Phillips, H.A., Briellmann, R.S., Wallace, R.H., Mazarib, A., Neufeld, M.Y., Korczyn, A.D., Scheffer, I.E. & Mulley, J.C. (2004). LGI1 mutations in temporal lobe epilepsies. Neurology 62, 1115-1119

Berteau, O., Bielicki, J., Kilonda, A., Machy, D., Anson, D.S. & Kenne, L. (2004). alpha-L-fucosidases: Exoglycosidases with unusual transglycosylation properties. Biochemistry 43, 7881-7891

Bettelheim, K.A. & Goldwater, P.N. (2004). Outbreak of Shiga toxin producing Escherichia coli O111 : H8 infection. Clinical Infectious Diseases 39, 148-148

Bhalla, K., Phillips, H.A., Crawford, J., McKenzie, O.L.D., Mulley, J.C., Eyre, H., Gardner, A.E., Kremmidiotis, G. & Callen, D.F.(2004). The de novo chromosome 16 translocations of two patients with abnormal phenotypes (mental retardation and epilepsy) disrupt the A2BP1 gene. Journal of Human Genetics 49, 308-311

Blunden, S., Lushington, K., Lorenzen, B., Ooi, T., Fung, F. & Kennedy, D. (2004). Are sleep problems under-recognised in general practice? Archives of Disease in Childhood 89, 708-712

Bonhoeffer, J., Gold, M.S., Heijbel, H., Vermeer, P., Blumberg, D., Braun, M., de Souza-Brito, G., Davis, R.L., Halperin, S., Heininger, U., Khuri-Bulos, N., Menkes, J., Nokleby, H. & Brighton Collaboration, H.H.E.W.(2004). Hypotonic-Hyporesponsive Episode (HHE) as an adverse event following immunization: case definition and guidelines for data collection, analysis, and presentation. Vaccine 22, 563-568

Bonhoeffer, J., Menkes, J., Gold, M.S., de Souza-Brito, G., Fisher, M.C., Halsey, N., Vermeer, P. & Brighton Collaboration, S.W.(2004). Generalized convulsive seizure as an adverse event following immunization: case definition and guidelines for data collection, analysis, and presentation. Vaccine 22, 557-562

Brooks, D.A. (2004). Protein co- and post-translational modification in organelles. in Nature Encyclopedia of the Human Genome (ed. Cooper, D.N.) Nature Publishing Group, London, pp -

Brown, A.L., Peters, M., D'Andrea, R.J. & Gonda, T.J.(2004). Constitutive mutants of the GM-CSF receptor reveal multiple pathways leading to myeloid cell survival, proliferation, and granulocyte-macrophage differentiation. Blood 103, 507-516

Burnell, H.R. & O'Keefe, M. (2004). Asking parents 'unaskable' questions. Lancet 364, 737-738

Cantagrel, V., Lossi, A.M., Boulanger, S., Depetris, D., Mattei, M.G., Gecz, J., Schwartz, C.E., Van Maldergem, L. & Villard, L.(2004). Disruption of a new X linked gene highly expressed in brain in a family with two mentally retarded males. Journal of Medical Genetics 41, 736-742

Chang, M.H.Y., Hua, C.T., Isaac, E.L., Litjens, T., Hodge, G., Karageorgos, L.E. & Meikle, P.J. (2004). Transthyretin interacts with the lysosome-associated membrane protein (LAMP-1) in circulation. Biochemical Journal 382, 481-489

Chen, C., David, D. & Hanieh, A. (2004). Morning glory syndrome and basal encephalocele. Childs Nervous System 20, 87-90

Chen, C.S., Roberton, D. & Hammerton, M.E. (2004). Juvenile arthritis-associated uveitis: visual outcomes and prognosis. Canadian Journal of Ophthalmology-Journal Canadien D Ophtalmologie 39, 614-620

Christiansen, K.J., Bell, J.M., Turnidge, J.D. & Jones, R.N.(2004). Antimicrobial activities of garenoxacin (BMS 284756) against Asia-Pacific Region clinical isolates from the SENTRY Program, 1999 to 2001. Antimicrobial Agents and Chemotherapy 48, 2049-2055

Christophe-Hobertus, C., Kooy, F., Gecz, J., Abramowicz, M.J., Holinski-Feder, E., Schwartz, C. & Christophe, D. (2004). TM4SF10 gene sequencing in XLMR patients identifies common polymorphisms but no disease-associated mutation. Biomed Central Medical Genetics 5, 22

Clements, P. (2004). Mass spectrometry as a platform for the diagnosis of lysosomal disorders. Clinical Chemistry 50, 1723-1724

Collins, C.T., Ryan, P., Crowther, C.A., McPhee, A.J., Paterson, S. & Hiller, J.E. (2004). Effect of bottles, cups, and dummies on breast feeding in preterm infants: randomised controlled trial. British Medical Journal 329, 193-196

Colombo, E., Galli, R., Cossu, G., Gecz, J. & Broccoli, V.(2004). Mouse orthologue of ARX, a gene mutated in several X-linked forms of mental retardation and epilepsy, is a marker of adult neural stem cells and forebrain GABAergic neurons. Developmental Dynamics 231, 631-639

Couper, J. (2004). Who should pay for intensive behavioural intervention in autism? A parent's view. Journal of Paediatrics and Child Health 40, 559-561

Couper, R.T.L., Henry, R.L. & South, M. (2004). Paediatrics: tackling the common problems. Medical Journal of Australia 181, 505-506

Crawley, A., Ramsay, S.L., Byers, S., Hopwood, J.J. & Meikle, P.J. (2004). Monitoring dose response of enzyme replacement therapy in feline mucopolysaccharidosis type VI by tandem mass spectrometry. Pediatric Research 55, 585-591

Crone, J., Symonds, E., Campbell, F. & Butler, R.(2004). Evaluation of a monoclonal antibody-based test for detection of Helicobacter pylori-specific antigen in stool samples from mice. Clinical and Diagnostic Laboratory Immunology 11, 799-800

Crowther, C.A., Hiller, J.E., Doyle, L.W., Haslam, R.R. & Grp, A.C.C. (2004). Magnesium sulfate for preterm neuroprotection - In reply. Jama-Journal of the American Medical Association 291, 941-941

D'Andrea, R.J., Sadlon, T.J. & Gonda, T.J. (2004). Overlapping motifs in the membrane-proximal region of cytokine receptor accessory and signaling subunits. Cytokine & Growth Factor Reviews 15, 83-85

Dibbens, L.M., Feng, H.J., Harkin, L.A., Hodgson, B.L., Scott, D., Jenkins, M., Petrou, S., Sutherland, G.R., Scheffer, I.E., Berkovic, S.F., Macdonald, R.L. & Mulley, J.C. (2004). GABRD encoding a protein for extra- or peri-synaptic GABA(A) receptors is a susceptibility locus for generalized epilepsies. Human Molecular Genetics 13, 1315-1319

Dyer, S.L., Collins, C.T., Baghurst, P., Saxon, B. & Meachan, B. (2004). Insuflon versus subcutaneous injection for cytokine administration in children and adolescents: a randomized crossover study. Journal of Pediatric Oncology Nursing 21, 79-86

Edwards, J.B., Williams, J.A.R. & Thomas, D.W.(2004). Experiences in providing a screening service for colorectal cancer from a pathology laboratory. Pathology 36, 330-334

Flood, W.D., Moyer, R.W., Tsykin, A., Sutherland, G.R. & Koblar, S.A. (2004). Nxf and Fbxo33: novel seizure-responsive genes in mice. European Journal of Neuroscience 20, 1819-1826

Ford, W.D.A., Guelfand, M., Lopez, P.J. & Furness, M.E.(2004). Laparoscopic excision of a gastric duplication cyst detected on antenatal ultrasound scan - art. no. E38. Journal of Pediatric Surgery 39, E38-E38

Ford, W.D.A., López, P.J., Sithasanan, N. & Tan, H.L.(2004). The Technical Aspects of Laparoscopic Repair of Diaphragmatic Defects in Neonates and Infants. Pediatric Surgery & Innovative Techniques 8, 123-129

Freude, K., Hoffmann, K., Jensen, L.R., Delatycki, M.B., des Portes, V., Moser, B., Hamel, B., van Bokhoven, H., Moraine, C., Fryns, J.P., Chelly, J., Gecz, J., Lenzner, S., Kalscheuer, V.M. & Ropers, H.H.(2004). Mutations in the FTSJ1 gene coding for a novel S-adenosylmethionine- binding protein cause nonsyndromic X-linked mental retardation. American Journal of Human Genetics 75, 305-309

Fuller, M. & Anson, D.S. (2004). Can the use of HIV-1 derived gene transfer vectors for clinical application be justified? Current Gene Therapy 4, 65-77

Fuller, M., Lovejoy, M., Brooks, D.A., Harkin, M.L., Hopwood, J.J. & Meikle, P.J. (2004). Immunoquantification of alpha-galactosidase: Evaluation for the diagnosis of Fabry disease. Clinical Chemistry 50, 1979-1985

Fuller, M., Meikle, P.J. & Hopwood, J.J. (2004). Glycosaminoglycan degradation fragments in mucopolysaccharidosis I. Glycobiology 14, 443-450

Fuller, M., Rozaklis, T., Ramsay, S.L., Hopwood, J.J. & Meikle, P.J. (2004). Disease-specific markers for the mucopolysaccharidoses. Pediatric Research 56, 733-738

Gardner, R.J.M. & Sutherland, G.R. (2004). in Chromosome Abnormalities and Genetic Counseling (Third Edition) Oxford University Press, New York, pp 577

Gecz, J. (2004). The molecular basis of intellectual disability: Novel genes with naturally occurring mutations causing altered gene expression in the brain. Frontiers in Bioscience 9, 1-7

Gibson, R.A. (2004). Docosa-hexaenoic acid (DHA) accumulation is regulated by the polyunsaturated fat content of the diet: Is it synthesis or is it incorporation? (Abstract). Asia Pacific Journal of Clinical Nutrition 13, S78

Gliddon, B.L. & Hopwood, J.J. (2004). Enzyme-replacement therapy from birth delays the development of behavior and learning problems in mucopolysaccharidosis type IIIA mice. Pediatric Research 56, 65-72

Gliddon, B.L., Yogalingam, G. & Hopwood, J.J. (2004). Purification and characterization of recombinant murine sulfamidase. Molecular Genetics and Metabolism 83, 239-245

Goldwater, P.N. (2004). SIDS pathogenesis: pathological findings indicate infection and inflammatory responses are involved. FEMS Immunology and Medical Microbiology 42, 11-20

Grabsch, E.A., Mitchell, D.J., Hooper, J. & Turnidge, J.D.(2004). In-use efficacy of a chlorhexidine in alcohol surgical rub: A comparative study. Australia and New Zealand Journal of Surgery 74, 769-772

Hall, N.J., Van Der Zee, J., Tan, H.L. & Pierro, A.(2004). Meta-analysis of laparoscopic versus open pyloromyotomy. Annals of Surgery 240, 774-778

Han, P., Guo, X.H. & Story, C. (2004). Role of beta(1)-integrins and their associated tetraspanin molecules in fibronectin-enhanced megakaryopoiesis. Cytotherapy 6, 465-475

Han, P., McDonald, T. & Hodge, G. (2004). Potential immaturity of the T-cell and antigen-presenting cell interaction in cord blood with particular emphasis on the CD40-CD40 ligand costimulatory pathway. Immunology 113, 26-34

Hansman, D., Wati, S., Lawrence, A.J. & Turnidge, J.D.(2004). Have South Australian isolates of Neisseria meningitidis become less susceptible to penicillin, rifampicin and other drugs? A study of strains isolated over three decades, 1971-1999. Pathology 36, 160-165

Harmatz, P., Whitley, C.B., Waber, L., Pais, R., Steiner, R., Plecko, B., Kaplan, P., Simon, J., Butensky, E. & Hopwood, J.J.(2004). Enzyme replacement therapy in mucopolysaccharidosis VI (Maroteaux-Lamy syndrome). Journal of Pediatrics 144, 574-580

Harrison, L.C., Honeyman, M.C., Steele, C.E., Stone, N.L., Sarugeri, E., Bonifacio, E., Couper, E., Couper, J.J. & Colman, P.G.(2004). Pancreatic beta-cell function and immune responses to insulin after administration of intranasal insulin to humans at risk for type 1 diabetes. Diabetes Care 27, 2348-2355

Hawkes, J., Bryan, D.L. & Gibson, R. (2004). Cells from mature human milk are capable of cytokine production following in vitro stimulation. Advances in Experimental Medicine and Biology 554, 467-70

Hein, L.K., Bawden, M., Muller, V.J., Sillence, D., Hopwood, J.J. & Brooks, D.A. (2004). alpha-L-iduronidase premature stop codons and potential read-through in mucopolysaccharidosis type I patients. Journal of Molecular Biology 338, 453-462

Hermans, M.M.P., van Leenen, D., Kroos, M.A., Beesley, C.E., Van der Ploeg, A.T., Sakuraba, H., Wevers, R., Kleijer, W., Michelakakis, H., Kirk, E.R., Fletcher, J., Bosshard, N., Basel-Vanagaite, L., Besley, G. & Reuser, A.J.J. (2004). Twenty-two novel mutations in the lysosomal alpha-glucosidase gene (GAA) underscore the genotype-phenotype correlation in glycogen storage disease type II. Human Mutation 23, 47-56

Hewer, S.C.L., Hewer, C.D.L., Pamula, Y., Martin, J. & Kennedy, D. (2004). Adenotonsillectomy in children with mild symptoms - Watchful waiting may deny children opportunity for development (Letter). British Medical Journal 329, 1045-1045

Hii, C.S., Anson, D.S., Costabile, M., Mukaro, V., Dunning, K. & Ferrante, A. (2004). Characterization of the MEK5-ERK5 module in human neutrophils and its relationship to ERK1/ERK2 in the chemotactic response. Journal of Biological Chemistry 279, 49825-49834

Hodge, G. (2004). Reply - Failure of down-regulation of leucocyte L-selectin in patients with culture-proven Bordetella pertussis infection may infer increased patient morbidity. Respirology 9, 142-142

Hodge, G., Hodge, S., Han, P. & Haslam, R. (2004). Multiple leucocyte activation markers to detect neonatal infection. Clinical and Experimental Immunology 135, 125-129

Hodge, G., Hodge, S., Haslam, R., McPhee, A., Sepulveda, H., Morgan, E., Nicholson, I. & Zola, H. (2004). Rapid simultaneous measurement of multiple cytokines using 100 mu l sample volumes - association with neonatal sepsis. Clinical and Experimental Immunology 137, 402-407

Hodge, S.J., Hodge, G.L., Holmes, M. & Reynolds, P.N.(2004). Flow cytometric characterization of cell populations in bronchoalveolar lavage and bronchial brushings from patients with chronic obstructive pulmonary disease. Cytometry Part B-Clinical Cytometry 61B, 27-34

Hopwood, J.J., Crawley, A.C. & Taylor, R.M. (2004). Spontaneous and engineered mammalian storage disease models. in Lysosomal Disorders of the Brain (eds Platt, F.M. & Walkley, S.U.) Oxford University Press, Oxford, pp 257-289

Huynh, H.Q., Couper, R.T.L., Tran, C.D., Moore, L., Kelso, R. & Butler, R.N. (2004). N-acetylcysteine, a novel treatment for Helicobacter pylori infection. Digestive Diseases and Sciences 49, 1853-1861

Imai, C., Mihara, K., Andreansky, M., Nicholson, I.C., Pui, C.H., Geiger, T.L. & Campana, D. (2004). Chimeric receptors with 4-1BB signaling capacity provoke potent cytotoxicity against acute lymphoblastic leukemia. Leukemia 18, 676-684

Isaacs, D., Kilham, H. & Marshall, H. (2004). Should routine childhood immunisations be compulsory? Journal of Paediatrics and Child Health 40, 392-396

Isbister, G.K. & White, J. (2004). Clinical consequences of spider bites: recent advances in our understanding. Toxicon 43, 477-492

Jones, M.Z., Alroy, J., Downs-Kelly, E., Lucas, R.E., Kraemer, S.A., Cavanagh, K.T., King, B. & Hopwood, J.J. (2004). Caprine mucopolysaccharidosis IIID - Fetal and neonatal brain and liver glycosaminoglycan and morphological perturbations. Journal of Molecular Neuroscience 24, 277-291

Jones, R.N., Deshpande, L.M., Bell, J.M., Turnidge, J.D., Kohno, S., Hirakata, Y., Ono, Y., Miyazawa, Y., Kawakama, S., Inoue, M., Hirata, Y. & Toleman, M.A. (2004). Evaluation of the contemporary occurrence rates of metallo-beta-lactamases in multidrug-resistant Gram-negative bacilli in Japan: report from the SENTRY Antimicrobial Surveillance Program (1998-2002). Diagnostic Microbiology and Infectious Disease 49, 289-294

Jones, S.A., Butler, R.N., Sanderson, I.R. & Wilson, J.W.(2004). The effect of specific caspase inhibitors on TNF-alpha and butyrate-induced apoptosis of intestinal epithelial cells. Experimental Cell Research 292, 29-39

Karageorgeos, L., Harmatz, P., Simon, J., Pollard, A., Clements, P.R., Brooks, D.A. & Hopwood, J.J. (2004). Mutational analysis of mucopolysaccharidosis type VI patients undergoing a trial of enzyme replacement therapy. Human Mutation 23, 229-233

Karlis, J., Penttila, I., Tran, T.B., Jones, B., Nobbs, S., Zola, H. & Flesch, I.E.A. (2004). Characterization of colonic and mesenteric lymph node dendritic cell subpopulations in a murine adoptive transfer model of inflammatory bowel disease. Inflammatory Bowel Diseases 10, 834-847

Kennedy, J.D., Blunden, S., Hirte, C., Parsons, D.W., Martin, A.J., Crowe, E., Williams, D., Pamula, Y. & Lushington, K. (2004). Reduced neurocognition in children who snore. Pediatric Pulmonology 37, 330-337

Kirby, D.M., McFarland, R., Ohtake, A., Dunning, C., Ryan, M.T., Wilson, C., Ketteridge, D., Turnbull, D.M., Thorburn, D.R. & Taylor, R.W.(2004). Mutations of the mitochondrial ND1 gene as a cause of MELAS. Journal of Medical Genetics 41, 784-9

Kodituwakku, A.P., Zola, H. & Roberton, D.M. (2004). Generation of murine monoclonal antibodies to Haemophilus influenzae type b capsular polysaccharide by in vivo immunization. Hybridoma and Hybridomics 23, 160-7

Lalonde, J.P., Lim, R., Ingley, E., Tilbrook, P.A., Thompson, M.J., McCulloch, R., Beaumont, J.G., Wicking, C., Eyre, H.J., Sutherland, G.R., Howe, K., Solomon, E., Williams, J.H. & Klinken, S.P. (2004). HLS5, a novel RBCC (ring finger, B box, coiled-coil) family member isolated from a hemopoietic lineage switch, is a candidate tumor suppressor. Journal of Biological Chemistry 279, 8181-8189

Lalonde, J.P., Lim, R., Ingley, E., Tilbrook, P.A., Thompson, M.J., McCulloch, R., Beaumont, J.G., Wicking, C., Eyre, H.J., Sutherland, G.R., Howe, K., Solomon, E., Williams, J.H. & Klinken, S.P. (2004). HLS5, a novel RBCC family member isolated from a hemopoietic lineage switch, is a candidate tumour suppressor. Journal of Biological Chemistry

Lau, A.A., Hemsley, K.M., Meedeniya, A. & Hopwood, J.J.(2004). In vitro characterization of genetically modified embryonic stem cells as a therapy for murine mucopolysaccharidosis type IIIA. Molecular Genetics and Metabolism 81, 86-95

Li, J.A., Milne, R.W., Nation, R.L., Turnidge, J.D., Smeaton, T.C. & Coulthard, K. (2004). Pharmacokinetics of colistin methanesulphonate and colistin in rats following an intravenous dose of colistin methanesulphonate. Journal of Antimicrobial Chemotherapy 53, 837-840

Lindeman, G.J., Hiew, M., Visvader, J.E., Leary, J., Field, M., Gaff, C.L., Gardner, R.J.M., Trainor, K., Cheetham, G., Suthers, G. & Kirk, J. (2004). Frequency of the ATM IVS10-6T -> G variant in Australian multiple-case breast cancer families. Breast Cancer Research 6, R401-R407

Lobb, E.A., Butow, P.N., Barratt, A., Meiser, B., Gaff, C., Young, M.A., Haan, E., Suthers, G., Gattas, M. & Tucker, K. (2004). Communication and information-giving in high-risk breast cancer consultations: influence on patient outcomes. British Journal of Cancer 90, 321-327

Lower, K.M., Kumar, R., Woollatt, E., Villard, L., Gecz, J., Sutherland, G.R. & Callen, D.F. (2004). Partial androgen insensitivity syndrome and t(X;5): Are there upstream regulatory elements of the androgen receptor gene? Hormone Research 62, 208-214

Lower, K.M., Solders, G., Bondeson, M.L., Nelson, J., Brun, A., Crawford, J., Malm, G., Borjeson, M., Turner, G., Partington, M. & Gecz, J. (2004). 1024C > T (R342X) is a recurrent PHF6 mutation also found in the original Borjeson-Forssman-Lehmann syndrome family. European Journal of Human Genetics 12, 787-789

Makrides, M., Hawkes, J., Roberton, D. & Gibson, R.(2004). The effect of dietary nucleotide supplementation on growth and immune function in term infants: a randomised controlled trial  (Abstract). Asia Pacific Journal of Clinical Nutrition 13, S58

Marini, C., Scheffer, I.E., Crossland, K.M., Grinton, B.E., Phillips, F.L., McMahon, J.M., Turner, S.J., Dean, J.T., Kivity, S., Mazarib, A., Neufeld, M.Y., Korczyn, A.D., Harkin, L.A., Dibbens, L.M., Wallace, R.H., Mulley, J.C. & Berkovic, S.F. (2004). Genetic architecture of idiopathic generalized epilepsy: Clinical genetic analysis of 55 multiplex families. Epilepsia 45, 467-478

Matthews, G.M., Tivey, D., Cummins, A.G. & Butler, R.N.(2004). Cellular mucosal defense is attenuated with chronicity of Helicobacter pylori infection. Digestive Diseases and Sciences 49, 1109-1115

Mavrangelos, C., Swart, B., Nobbs, S., Nicholson, I.C., Macardle, P.J. & Zola, H. (2004). Detection of low-abundance membrane markers by immunofluorescence - a comparison of alternative high-sensitivity methods and reagents. Journal of Immunological Methods 289, 169-178

McFarland, R., Kirby, D.M., Fowler, K.J., Ohtake, A., Ryan, M.T., Amor, D.J., Fletcher, J.M., Dixon, J.W., Collins, F.A., Turnbull, D.M., Taylor, R.W. & Thorburn, D.R. (2004). De novo mutations in the mitochondrial ND3 gene as a cause of infantile mitochondrial encephalopathy and complex I deficiency. Annals of Neurology 55, 58-64

Meikle, P.J., Dean, C.J., Brooks, D.A. & Hopwood, J.J.(2004). Newborn Screening for Lysosomal Storage Disorders: Ethical and Technical Issues. Italian Journal of Paediatrics 30, 305-11

Meikle, P.J., Fietz, M.J. & Hopwood, J.J. (2004). Diagnosis of lysosomal storage disorders: current techniques and future directions. Expert Review of Molecular Diagnostics 4, 677-691

Meikle, P.J., Ranieri, E., Simonsen, H., Rozaklis, T., Ramsay, S.L., Whitfield, P.D., Fuller, M., Christensen, E., Skovby, F. & Hopwood, J.J.(2004). Newborn screening for lysosomal storage disorders: Clinical evaluation of a two-tier strategy. Pediatrics 114, 909-916

Montfort, M., Garrido, E., Hopwood, J.J., Grinberg, D., Chabas, A. & Vilageliu, L. (2004). Expression and functional characterization of human mutant sulfamidase in insect cells. Molecular Genetics and Metabolism 83, 246-251

Moorwood, K., Bourne, H., Philpot, R., Gold, M., Gillis, D. & Benson, E. (2004). Phenotypic variability:  Clinical presentation between the 6th year and 60th year in a family with X-Linked agammaglobulinemia (Letter). Journal of Allergy and Clinical Immunology 113, 784-785

Mortimer, R.H., Sewell, J.R., Roberton, D.M., Thomson, N.M., Leigh, J.A. & Long, P.W. (2004). Lessons from the clinical support systems program: facilitating better practice through leadership and team building. Medical Journal of Australia 180, S97-S100

Munckhof, W.J., Kleinschmidt, S.L. & Turnidge, J.D.(2004). Resistance development in community-acquired strains of methicillin-resistant Staphylococcus aureus: an in vitro study. International Journal of Antimicrobial Agents 24, 605-608

Murch, S.H., Baldassano, R., Buller, H., Chin, S., Griffiths, A.M., Hildebrand, H., Jasinsky, C., Kong, T., Moore, D. & Orsi, M.(2004). Inflammatory bowel disease: Working Group Report of the Second World Congress of Pediatric Gastroenterology, Hepatology, and Nutrition. Journal of Pediatric Gastroenterology and Nutrition 39, S647-S654

Muschol, N., Storch, S., Ballhausen, D., Beesley, C., Westermann, J.C., Gal, A., Ullrich, K., Hopwood, J.J., Winchester, B. & Braulke, T.(2004). Transport, enzymatic activity, and stability of mutant sulfamidase (SGSH) identified in patients with mucopolysaccharidosis type III A. Human Mutation 23, 559-66

Nguyen, N.D., Allen, J.R., Peat, J.K., Schofield, W.N., Nossar, V., Eisenbruch, M. & Gaskin, K.J. (2004). Growth and feeding practices of Vietnamese infants in Australia. European Journal of Clinical Nutrition 58, 356-62

O'Keefe, M., Baghurst, P., Sawyer, M. & Roberton, D.(2004). The association between maternal ratings of child health interviews and maternal and child characteristics. Family Practice 21, 684-688

O'Keefe, M., Sawyer, M. & Roberton, D. (2004). Medical students taking the role of the mother in paediatric interview evaluation. Medical Education 38, 294-301

Omari, T. & C., R. (2004). Gastrointestinal Motility. in Fetal and Neonatal Physiology 3rd Edition (eds Polin, R.A., Fox, W.W. & Abman, S.H.), pp 1125-1138

Omari, T.I., Rommel, N., Staunton, E., Lontis, R., Goodchild, L., Haslam, R.R., Dent, J. & Davidson, G.P. (2004). Paradoxical impact of body positioning on gastroesophageal reflux and gastric emptying in the premature neonate. Journal of Pediatrics 145, 194-200

Page, A.J., Brierley, S.M., Martin, C.M., Martinez-Salgado, C., Wemmie, J.A., Brennan, T.J., Symonds, E., Omari, T., Lewin, G.R., Welsh, M.J. & Blackshaw, L.A. (2004). The ion channel ASIC1 contributes to visceral but not cutaneous mechanoreceptor function. Gastroenterology 127, 1739-1747

Palmer, D., Gold, M.S. & Makrides, M. (2004). Treatment and prevention of food allergies in breastfed infants:  practice and evidence. Nutrition and Dietetics 61, 74-79

Parkinson, E.J., Muller, V., Hopwood, J.J. & Brooks, D.A.(2004). Iduronate-2-sulphatase protein detection in plasma from mucopolysaccharidosis type II patients. Molecular Genetics and Metabolism 81, 58-64

Partington, M.W., Turner, G., Boyle, J. & Gecz, J.(2004). Three new families with X-linked mental retardation caused by the 428-451dup(24bp) mutation in ARX. Clinical Genetics 66, 39-45

Pelton, N.S., Tivey, D.R., Howarth, G.S., Davidson, G.P. & Butler, R.N. (2004). A novel breath test for the non-invasive assessment of small intestinal mucosal injury following methotrexate administration in the rat. Scandinavian Journal of Gastroenterology 39, 1015-1016

Pena, A.S., Wiltshire, E., Gent, R., Hirte, C. & Couper, J.(2004). Folic acid improves endothelial function in children and adolescents with type 1 diabetes. Journal of Pediatrics 144, 500-504

Powell, C.V.E., Raftos, J., Kerr, D., Rosengarten, P. & Kelly, A.M. (2004). Asthma in emergency departments: Combined adult and paediatric versus paediatric only centres. Journal of Paediatrics and Child Health 40, 433-437

Ramsay, S.L., Maire, I., Bindloss, C., Fuller, M., Whitfield, P.D., Piraud, M., Hopwood, J.J. & Meikle, P.J. (2004). Determination of oligosaccharides and glycolipids in amniotic fluid by electrospray ionisation tandem mass spectrometry: in utero indicators of lysosomal storage diseases. Molecular Genetics and Metabolism 83, 231-238

Ritz, M.A., Fraser, R.J., Di Matteo, A.C., Greville, H., Butler, R., Cmielewski, P. & Davidson, G.(2004). Evaluation of the C-13-triolein breath test for fat malabsorption in adult patients with cystic fibrosis. Journal of Gastroenterology and Hepatology 19, 448-453

Roberton, D.M., Marshall, H., Dinan, L., Boros, C. & Gold, M.(2004). Developmental immunology and vaccines: immune responses to vaccines in premature infants. Expert Reviews in Vaccines 3, 343-7

Robinson, B.S., Monis, P.T., Henderson, M., Gelonese, S. & Ferrante, A. (2004). Detection and significance of the potentially pathogenic amoeboflagellate Naegleria italica in Australia. Parasitology International 53, 23-7

Sadlon, T.J., Lewis, I.D. & D'Andrea, R.J. (2004). BMP4: Its role in development of the hematopoietic system and potential as a hematopoietic growth factor. Stem Cells 22, 457-474

Sander, G.R. & Powell, B.C. (2004). Expression of Notch receptors and ligands in the adult gut. Journal of Histochemistry & Cytochemistry 52, 509-516

Sander, G.R. & Powell, B.C. (2004). Expression of the homeobox gene Barx2 in the gut. Journal of Histochemistry & Cytochemistry 52, 541-544

Sander, G.R. & Powell, B.C. (2004). Structure and expression of the ovine Hoxc-13 gene. Gene 327, 107-116

Sarafidou, T., Kahl, C., Martinez-Garay, I., Mangelsdorf, M., Gesk, S., Baker, E., Kokkinaki, M., Talley, P., Maltby, E.L., French, L., Harder, L., Hinzmann, B., Nobile, C., Richkind, K., Finnis, M., Deloukas, P., Sutherland, G.R., Kutsche, K., Moschonas, N.K., Siebert, R., Gecz, J. & European Coll, C. (2004). Folate-sensitive fragile site FRA10A is due to an expansion of a CGG repeat in a novel gene, FRA10AC1, encoding a nuclear protein. Genomics 84, 69-81

Savas, P.S., Hemsley, K.M. & Hopwood, J.J. (2004). Intracerebral injection of sulfamidase delays neuropathology in murine MPS-IIIA. Molecular Genetics and Metabolism 82, 273-285

Sawyer, M.G., Rey, J.M., Arney, F.M., Whitham, J.N., Clark, J.J. & Baghurst, P.A. (2004). Use of health and school-based services in Australia by young people with attention-deficit/hyperactivity disorder. Journal of the American Academy of Child and Adolescent Psychiatry 43, 1355-1363

Sawyer, M.G., Reynolds, K.E., Couper, J.J., French, D.J., Kennedy, D., Martin, J., Staugas, R., Ziaian, T. & Baghurst, P.A.(2004). Health-related quality of life of children and adolescents with chronic illness - a two year prospective study. Quality of Life Research 13, 1309-1319

Sawyer, M.G., Whitham, J.N., Roberton, D.M., Taplin, J.E., Varni, J.W. & Baghurst, P.A. (2004). The relationship between health-related quality of life, pain and coping strategies in juvenile idiopathic arthritis. Rheumatology 43, 325-330

Sergi, B. & Penttila, I. (2004). Interleukin 18 receptor. Journal of Biological Regulators and Homeostatic Agents 18, 55-61

Shaw, M.A., Gecz, J., McDonough, B., Hodess, A.B. & Harter, D.H.(2004). Identification of a SEDL gene mutation in an individual with Leber hereditary optic neuropathy and spondyloepiphyseal dysplasia. American Journal of Medical Genetics Part A 129A, 206-207

Smith, W.B., Thompson, D., Kummerow, M., Quinn, P. & Gold, M.S. (2004). A2 milk is allergenic (Letter). Medical Journal of Australia 181, 574

Smithers, L.G., McPhee, A.J., Gibson, R.A. & Makrides, M.(2004). Visual development of preterm infants fed high dose docosahexaenoic acid (Abstract). Asia Pacific Journal of Clinical Nutrition 13, S50

Staba, S.L., Escolar, M.L., Poe, M., Kim, Y., Martin, P.L., Szabolcs, P., Allison-Thacker, J., Wood, S., Wenger, D.A., Rubinstein, P., Hopwood, J.J., Krivit, W. & Kurtzberg, J. (2004). Cord-blood transplants from unrelated donors in patients with Hurler's syndrome. New England Journal of Medicine 350, 1960-1969

Su, Z.J., Hahn, C.N., Goodall, G.J., Reck, N.M., Leske, A.F., Davy, A., Kremmidiotis, G., Vadas, M.A. & Gamble, J.R. (2004). A vascular cell-restricted RhoGAP, p73RhoGAP, is a key regulator of angiogenesis. Proceedings of the National Academy of Sciences of the United States of America 101, 12212-7

Sutherland, G.R. & Baker, E. (2004). Fragile Sites. Encyclopedia Molec Cell Biol. Molec Med (2nd Ed) 4, 569-583

Suthers, G. (2004). Genetic testing: a round table conversation. Internal Medicine Journal 34, 4-5

Suthers, G. (2004). Susceptibility genes and exocrine pancreatic cancer. Journal of Gastroenterology and Hepatology 19, 1086-1086

Svigos, J., Ford, W.D. & McPhee, A.J. (2004). Isolated phrenic nerve palsy in a neonate at Caesarean section: a case report. Australian and New Zealand Journal of Obstetrics & Gynaecology 44, 475-6

Swart, B. & Zola, H. (2004). The 8th international workshop and conference on human leucocyte differentiation antigens (HLDA8): 2000-2004. Cytometry Part A 59A, 122-123

Symonds, E.L., Kritas, S., Omari, T.I. & Butler, R.N.(2004). A combined (CO2)-C-13/H-2 breath test can be used to assess starch digestion and fermentation in humans. Journal of Nutrition 134, 1193-1196

Tan, H.L., Lopez, P.J., Shankar, K.R. & Boucaut, H.A.(2004). Silicon headrests are ideal lithotomy restraints for neonatal and infant cystoscopy. BJU International 93, 177-8

Tan, H.L., Tecson, B., Ee, M.Z. & Tantoco, J. (2004). Lymphatic sparing, laparoscopic varicocelectomy: a new surgical technique. Pediatric Surgery International 20, 797-798

Tao, J., Van Esch, H., Hagedorn-Greiwe, M., Hoffmann, K., Moser, B., Raynaud, M., Sperner, J., Fryns, J.P., Schwinger, E., Gecz, J., Ropers, H.H. & Kalscheuer, V.M. (2004). Mutations in the X-linked cyclin-dependent kinase-like 5 (CDKL5/STK9) gene are associated with severe neurodevelopmental retardation. American Journal of Human Genetics 75, 1149-1154

Tarpey, P., Parnau, J., Blow, M., Woffendin, H., Bignell, G., Cox, C., Cox, J., Davies, H., Edkins, S., Holden, S., Korny, A., Mallya, U., Moon, J., O'Meara, S., Parker, A., Stephens, P., Stevens, C., Teague, J., Donnelly, A., Mangelsdorf, M., Mulley, J., Partington, M., Turner, G., Stevenson, R., Schwartz, C., Young, I., Easton, D., Bobrow, M., Futreal, P.A., Stratton, M.R., Gecz, J., Wooster, R. & Raymond, F.L. (2004). Mutations in the DLG3 gene cause nonsyndromic X-linked mental retardation. American Journal of Human Genetics 75, 318-324

Tenikoff, D., Murphy, K.J., Le, M., Butler, R.N., Howarth, G.S. & Howe, P.R. (2004). Lyprinol(tm): a potential preventive treatment for inflammatory bowel disease (IBD)? Asia Pacific Journal of Clinical Nutrition 13, S94

Teo, M., Chung, S., Chitti, L., Tran, C., Kritas, S., Butler, R. & Cummins, A. (2004). Small bowel bacterial overgrowth is a common cause of chronic diarrhea. Journal of Gastroenterology and Hepatology 19, 904-909

Turner, G., Lower, K.M., White, S.M., Delatycki, M., Lampe, A.K., Wright, M., Clayton-Smith, J., Kerr, B., Schelley, S., Hoyme, H.E., De Vries, B.B.A., Kleefstra, T., Grompe, M., Cox, B., Gecz, J. & Partington, M.(2004). The clinical picture of the Borjeson-Forssman-Lehmann syndrome in males and heterozygous females with PHF6 mutations. Clinical Genetics 65, 226-232

Turnidge, J. (2004). Antibiotic use in animals - Reply. Journal of Antimicrobial Chemotherapy 53, 886-886

Turnidge, J. (2004). Antibiotic use in animals-prejudices, perceptions and realities. Journal of Antimicrobial Chemotherapy 53, 26-27

Udell, T., Makrides, M. & Gibson, R.A. (2004). Omega-3 long-chain polyunsaturated fatty acids in plasma phospholipids of 12-month-old infants consuming cow's milk, breast milk or formula: a cross-sectional study (Abstract). Asia Pacific Journal of Clinical Nutrition 13, S79

Weaving, L.S., Christodoulou, J., Williamson, S.L., Friend, K.L., McKenzie, O.L.D., Archer, H., Evans, J., Clarke, A., Pelka, G.J., Tam, P.P.L., Watson, C., Lahooti, H., Ellaway, C.J., Bennetts, B., Leonard, H. & Gecz, J. (2004). Mutations of CDKL5 cause a severe neurodevelopmental disorder with infantile spasms and mental retardation. American Journal of Human Genetics 75, 1079-1093

White, J. (2004). Elapid snakes. in Medical Toxicology (ed. Dart, R.) Lippincott, Williams & Wilkins, pp 1566-1578

White, J. (2004). Overview of venomous snakes of the world. in Medical Toxicology (ed. Dart, R.) Lippincott, Williams & Wilkins, pp 1543-1559

White, J. (2004). Viperid snakes. in Medical Toxicology (ed. Dart, R.) Lippincott, Williams & Wilkins, pp 1579-1591

White, S.M., Thompson, E.M., Kidd, A., Savarirayan, R., Turner, A., Amor, D., Delatycki, M.B., Fahey, M., Baxendale, A., White, S., Haan, E., Gibson, K., Halliday, J.L. & Bankier, A. (2004). Growth, behavior, and clinical findings in 27 patients with Kabuki (Niikawa-Kuroki) Syndrome. American Journal of Medical Genetics Part A 127A, 118-127

Wiltshire, E.J. & Couper, J.J. (2004). Improved folate status in children and adolescents during voluntary fortification of food with folate. Journal of Paediatrics and Child Health 40, 44-47

Wong, I.W.Y., Omari, T.I., Myers, J.C., Rees, G., Nair, S.B., Jamieson, G.G. & Wormald, P.J. (2004). Nasopharyngeal pH monitoring in chronic sinusitis patients using a novel four channel probe. Laryngoscope 114, 1582-1586

Xian, C.J., Howarth, G.S., Cool, J.C. & Foster, B.K.(2004). Effects of acute 5-fluorouracil chemotherapy and insulin-like growth factor-I pretreatment on growth plate cartilage and metaphyseal bone in rats. Bone 35, 739-749

Xian, C.J., Zhou, F.H., McCarty, R.C. & Foster, B.K.(2004). Intramembranous ossification mechanism for bone bridge formation at the growth plate cartilage injury site. Journal of Orthopaedic Research 22, 417-426

Xian, C.J. & Zhou, X.F. (2004). EGF family of growth factors: Essential roles and functional redundancy in the nerve system. Frontiers in Bioscience 9, 85-92

Yamashiro, Y., Castaneda, C., Davidson, G., Gibson, G., Penna, F.J., Mack, D. & Splawski, J.(2004). Biotherapeutic and nutraceutical agents: Working Group Report of the Second World Congress of Pediatric Gastroenterology, Hepatology, and Nutrition. Journal of Pediatric Gastroenterology and Nutrition 39, S596-S600

Yogalingam, G., Guo, X.H., Muller, V.J., Brooks, D.A., Clements, P., Kakkis, E.D. & Hopwood, J.J. (2004). Identification and molecular characterization of alpha-L-iduronidase mutations present in mucopolysaccharidosis Type I patients undergoing enzyme replacement therapy. Human Mutation 24, 199-207

Zhou, F.H., Foster, B.K., Sander, G. & Xian, C.J.(2004). Expression of proinflammatory cytokines and growth factors at the injured growth plate cartilage in young rats. Bone 35, 1307-1315

Zhou, S.J., Makrides, M., Gibson, R.A. & Baghurst, P. (2004). Effect of iron supplementation in pregnancy on IQ of children at 4 years of age (Abstract). Asia Pacific Journal of Clinical Nutrition 13, S39