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Discipline of Paediatrics
The University of Adelaide
SA 5005
Australia
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2001 Research Publications

Discipline of Paediatrics

A-B | C | D-G | H-J | K-L | M-O | P-R | S-T | U-W | X-Z [by first author]

Adamson, P.J., Zola, H., Nicholson, I.C., Pilkington, G. & Hohmann, A. (2001).Antibody against CD20 in patients with B cell malignancy. Leukemia Research 25, 1047-50

Anson, D.S. (2001).Retroviral-mediated gene transduction. in Methods in Molecular Biology (eds Starkey, M.P. & Elaswarapu, R.), Totowa, NJ, USA, pp 471-494

Barnett, C.P., Omari, T., Davidson, G.P., Goodchild, L., Lontis, R., Dent, J. & Haslam, R.R. (2001).Effect of cisapride on gastric emptying in premature infants with feed intolerance. Journal of Paediatrics & Child Health 37, 559-563

Benninga, M.A., Omari, T.I., Haslam, R.R., Barnett, C.P., Dent, J. & Davidson, G.P. (2001).Characterization of anorectal pressure and the anorectal inhibitory reflex in healthy preterm and term infants. Journal of Pediatrics 139, 233-7

Berg, T., King, B., Meikle, P.J., Nilssen, O., Tollersrud, O.K. & Hopwood, J.J. (2001).Purification and characterization of recombinant human lysosomal alpha-mannosidase. Molecular Genetics & Metabolism 73, 18-29

Bhattacharyya, R., Gliddon, B., Beccari, T., Hopwood, J.J. & Stanley, P. (2001).A novel missense mutation in lysosomal sulfamidase is the basis of MPS III A in a spontaneous mouse mutant. Glycobiology 11, 99-103

Bierlson, P., Sawyer, M.G. & Storm, V. (2000).The mental health of young people in Australia: Child and adolescent component of the national survey - A commentary. 8, 358-367

Blunden, S., Lushington, K. & Kennedy, D. (2001).Cognitive and behavioural performance in children with sleep-related obstructive breathing disorders. Sleep Medicine Reviews 5, 447-461

Boros, C.A., Hanlon, M., Gold, M.S. & Roberton, D.M. (2001).Storage at -3 degrees C for 24 h alters the immunogenicity of pertussis vaccines. Vaccine 19, 3537-42

Bouillet, P., Zhang, L.C., Huang, D.C., Webb, G.C., Bottema, C.D., Shore, P., Eyre, H.J., Sutherland, G.R. & Adams, J.M. (2001).Gene structure alternative splicing, and chromosomal localization of pro-apoptotic Bcl-2 relative Bim. Mammalian Genome 12, 163-8

Brand, C., Ferrante, A., Prager, R.H., Riley, T.V., Carson, C.F., Finlay Jones, J.J. & Hart, P.H. (2001).The water-soluble components of the essential oil of Melaleuca alternifolia (tea tree oil) suppress the production of superoxide by human monocytes, but not neutrophils, activated in vitro. Inflammation Research 50, 213-9

Braunlin, E.A., Rose, A.G., Hopwood, J.J., Candel, R.D. & Krivit, W. (2001).Coronary artery patency following long-term successful engraftment 14 years after bone marrow transplantation in the Hurler syndrome. American Journal of Cardiology 88, 1075-1077

Brisco, M.J., Sykes, P.J., Hughes, E., Neoh, S.H., Snell, L.E., Dolman, G., Peng, L.M., Toogood, I.R., Cheney, K., Rice, M.S., Story, C.J. & Morley, A.A. (2001).Comparison of methods for assessment of minimal residual disease in childhood B-lineage acute lymphoblastic leukemia. Leukemia 15, 385-390

Brooks, D.A., Fabrega, S., Hein, L.K., Parkinson, E.J., Durand, P., Yogalingam, G., Matte, U., Giugliani, R., Dasvarma, A., Eslahpazire, J., Henrissat, B., Mornon, J.P., Hopwood, J.J. & Lehn, P. (2001).Glycosidase active site mutations in human alpha-L-iduronidase. Glycobiology 11, 741-50

Burnet, S.P., Duncan, E.M., Lloyd, J.V. & Han, P. (2001).Acquired haemophilia in South Australia: a case series. Internal Medicine Journal 31, 556-9

Byard, R.W. & Couper, R.T. (2001).Acute gastric dilation and spastic quadriparesis. Journal of Pediatrics 139, 166

Byard, R.W., Couper, R.T.L. & Cohle, S. (2001).Gastric distension, cerebral palsy and unexpected death. Journal of Clinical Forensic Medicine 8, 81-85

Chan, A., Pickering, J., Haan, E., Netting, M., Burford, A., Johnson, A. & Keane, R.J. (2001)."Folate before pregnancy": the impact on women and health professionals of a population-based health promotion campaign in South Australia. Medical Journal of Australia 174, 631-6

Cleton Jansen, A.M., Callen, D.F., Seshadri, R., Goldup, S., McCallum, B., Crawford, J., Powell, J.A., Settasatian, C., van Beerendonk, H., Moerland, E.W., Smit, V.T., Harris, W.H., Millis, R., Morgan, N.V., Barnes, D., Mathew, C.G. & Cornelisse, C.J. (2001).Loss of heterozygosity mapping at chromosome arm 16q in 712 breast tumors reveals factors that influence delineation of candidate regions. Cancer Research 61, 1171-1177

Costabile, M., Hii, C.S., Robinson, B.S., Rathjen, D.A., Pitt, M., Easton, C., Miller, R.C., Poulos, A., Murray, A.W. & Ferrante, A. (2001).A novel long chain polyunsaturated fatty acid, beta-Oxa 21:3n-3, inhibits T lymphocyte proliferation, cytokine production, delayed-type hypersensitivity, and carrageenan-induced paw reaction and selectively targets intracellular signals. Journal of Immunology 167, 3980-7

Couper, J.J. (2001).Environmental triggers of type 1 diabetes. Journal of Paediatrics & Child Health 37, 218-20

Couper, R. (2001).Cricket at the speed of light (Letter). Lancet 358, 1650

Couper, R.T., McPhee, A. & Morris, L. (2001).Indomethacin treatment of infantile cortical periostosis in twins. Journal of Paediatrics & Child Health 37, 305-8

Couper, R.T. & Simmer, K.N. (2001).Iron deficiency in children: food for thought (Editorial). Medical Journal of Australia 174, 162-3

Couper, R.T.L. (2001).Clinical picture: Rapunzel syndrome. Lancet 358, 1304

Cowin, A.J., Hatzirodos, N., Holding, C.A., Dunaiski, V., Harries, R.H., Rayner, T.E., Fitridge, R., Cooter, R.D., Schultz, G.S. & Belford, D.A. (2001).Effect of healing on the expression of transforming growth factor beta(s) and their receptors in chronic venous leg ulcers. Journal of Investigative Dermatology 117, 1282-9

Cowin, A.J., Kallincos, N., Hatzirodos, N., Robertson, J.G., Pickering, K.J., Couper, J. & Belford, D.A. (2001).Hepatocyte growth factor and macrophage-stimulating protein are upregulated during excisional wound repair in rats. Cell and Tissue Research 306, 239-50

Craig, A.G., Omari, T., Lingenfelser, T., Schloithe, A.C., Saccone, G.T., Dent, J. & Toouli, J. (2001).Development of a sleeve sensor for measurement of sphincter of Oddi motility. Endoscopy 33, 651-7

Crowther, C.A., Alfirevic, Z. & Haslam, R.R. (2001).Prenatal thyrotropin-releasing hormone for preterm birth. Cochrane Database SystematicReviews, CD000019.

Cummins, A.G., Thompson, F.M., Butler, R.N., Cassidy, J.C., Gillis, D., Lorenzetti, M., Southcott, E.K. & Wilson, P.C. (2001).Improvement in intestinal permeability precedes morphometric recovery of the small intestine in coeliac disease. Clinical Science 100, 379-86

Davidson, G.P. & Omari, T.I. (2001).Pathophysiological mechanisms of gastroesophageal reflux disease in children. Current Gastroenterology Reports 3, 257-62

Easton, C.J., Robertson, T.A., Pitt, M.J., Rathjen, D.A., Ferrante, A. & Poulos, A. (2001).Oxidation of oxa and thia fatty acids and related compounds catalysed by 5- and 15-lipoxygenase. Bioorganic and Medicinal Chemistry 9, 317-22

Easton, C.J., Xia, L., Pitt, M.J., Ferrante, A., Poulos, A. & Rathjen, D.A. (2001).Polyunsaturated nitroalkanes and nitro-substituted fatty acids. Synthesis 3, 451-457

Elliott, E.J., Robins Browne, R.M., O'Loughlin, E.V., Bennett Wood, V., Bourke, J., Henning, P., Hogg, G.G., Knight, J., Powell, H. & Redmond, D. (2001).Nationwide study of haemolytic uraemic syndrome: clinical, microbiological, and epidemiological features. Archives of Disease in Childhood 85, 125-31

Fuller, M. & Anson, D.S. (2001).Helper plasmids for production of HIV-1-derived vectors. Human Gene Therapy 12, 2081-93

Gardner, R.J., Savarirayan, R., Dunne, K.B., McLellan, J.A., Coleman, L.T. & Suthers, G.K. (2001).Microlissencephaly with cardiac, spinal and urogenital defects. Clinical Dysmorphology 10, 203-8

Gedeon, A.K., Tiller, G.E., Le Merrer, M., Heuertz, S., Tranebjaerg, L., Chitayat, D., Robertson, S., Glass, I.A., Savarirayan, R., Cole, W.G., Rimoin, D.L., Kousseff, B.G., Ohashi, H., Zabel, B., Munnich, A., Gecz, J. & Mulley, J.C. (2001).The molecular basis of X-linked spondyloepiphyseal dysplasia tarda. American Journal of Human Genetics 68, 1386-97

Goldwater, P.N. (2001).Bovine spongiform encephalopathy and variant Creutzfeldt-Jakob disease: implications for Australia. Medical Journal of Australia 175, 154-8

Goldwater, P.N. (2001).SIDS: more facts and controversies. Medical Journal of Australia 174, 302-4

Goldwater, P.N., Rowland, K., Thesinger, M., Abbott, K., Grieve, A., Palombo, E.A., Masendycz, P.J., Wilkinson, I. & Bear, J. (2001).Rotavirus encephalopathy: pathogenesis reviewed. Journal of Paediatrics & Child Health 37, 206-9

Graetz, B.W., Sawyer, M.G., Hazell, P.L., Arney, F. & Baghurst, P. (2001).Validity of DSM-IVADHD subtypes in a nationally representative sample of Australian children and adolescents. Journal of the American Academy of Child & Adolescent Psychiatry 40, 1410-7

Hii, C.S., Marin, L.A., Halliday, D., Roberton, D.M., Murray, A.W. & Ferrante, A. (2001).Regulation of human neutrophil-mediated cartilage proteoglycan degradation by phosphatidylinositol-3-kinase. Immunology 102, 59-66

Hii, C.S., Moghadammi, N., Dunbar, A. & Ferrante, A. (2001).Activation of the phosphatidylinositol 3-kinase-Akt/protein kinase B signaling pathway in arachidonic acid-stimulated human myeloid and endothelial cells: involvement of the ErbB receptor family. Journal of Biological Chemistry 276, 27246-55

Hillman, M.A. & Gecz, J. (2001).Fragile XE-associated familial mental retardation protein 2 (FMR2) acts as a potent transcription activator. Journal of Human Genetics 46, 251-9

Hodge, G. & Han, P. (2001).Effect of intermediate-purity factor VIII (FVIII) concentrate on lymphocyte proliferation and apoptosis: transforming growth factor-beta is a significant immunomodulatory component of FVIII. British Journal of Haematology 115, 376-81

Hodge, G. & Han, P. (2001).Factor VIII concentrate inhibits T helper type 2 cytokine production in vitro: relevance to inhibitor antibody formation. Haemophilia 7, 490-6

Hodge, S., Hodge, G., Flower, R. & Han, P. (2001).Cord Blood Leucocyte Expression of Functionally Significant Molecules Involved in the Regulation of Cellular Immunity. Scandinavian Journal ofImmunology 53, 72-78.

Hopwood, J.J. & Ballabio, A. (2001).Multiple sulfatase deficiency and the nature of the sulfatase family. in The Metabolic and Molecular Bases of Inherited Disease (eds Scriver, C.R., Beaudet, A.L., Sly, W.S. & Valle, D.), New York, pp 3725-3732

Hughes, R., Tivey, D. & Butler, R. (2001).Hydrogen and Methane breath tests for assessing metabolic activity of gut microflora in broiler chickens. Australian Poultry Science Symposium 2001.,

Hulett, M.D., Pagler, E., Hornby, J.R., Hogarth, P.M., Eyre, H.J., Baker, E., Crawford, J., Sutherland, G.R., Ohms, S.J. & Parish, C.R. (2001).Isolation, tissue distribution, and chromosomal localization of a novel testis-specific human four-transmembrane gene related to CD20 and FcepsilonRI-beta. Biochemical and Biophysical Research Communications 280, 374-9

Iles, K., Poplawski, N.K. & Couper, R.T. (2001).Passive exposure to tobacco smoke and bacterial meningitis in children. Journal of Paediatrics & Child Health 37, 388-91

Jersmann, H.P., Hii, C.S., Ferrante, J.V. & Ferrante, A. (2001).Bacterial lipopolysaccharide and tumor necrosis factor alpha synergistically increase expression of human endothelial adhesion molecules through activation of NF-kappaB and p38 mitogen-activated protein kinase signaling pathways. Infection and Immunity 69, 1273-9

Jersmann, H.P., Hii, C.S., Hodge, G.L. & Ferrante, A. (2001).Synthesis and surface expression of CD14 by human endothelial cells. Infection and Immunity 69, 479-85

Jessup, C.F., Ridings, J., Ho, A., Nobbs, S., Roberton, D.M., Macardle, P. & Zola, H. (2001).The Fc receptor for IgG (Fc gamma RII; CD32) on human neonatal B lymphocytes. Human Immunology 62, 679-85

Kawahara, H., Dent, J., Davidson, G. & Okada, A. (2001).Relationship between straining, transient lower esophageal sphincter relaxation, and gastroesophageal reflux in children. American Journal of Gastroenterology 96, 2019-25

Keeling, K.M., Brooks, D.A., Hopwood, J.J., Li, P., Thompson, J.N. & Bedwell, D.M. (2001).Gentamicin-mediated suppression of Hurler syndrome stop mutations restores a low level of alpha-L-iduronidase activity and reduces lysosomal glycosaminoglycan accumulation. Human Molecular Genetics 10, 291-9

Kelberman, D., Tyson, J., Chandler, D.C., McInerney, A.M., Slee, J., Albert, D., Aymat, A., Botma, M., Calvert, M., Goldblatt, J., Haan, E.A., Laing, N.G., Lim, J., Malcolm, S., Singer, S.L., Winter, R.M. & Bitner Glindzicz, M. (2001).Hemifacial microsomia: progress in understanding the genetic basis of a complex malformation syndrome. Human Genetics 109, 638-45

Kennaway, D.J., Flanagan, D.E., Moore, V.M., Cockington, R.A., Robinson, J.S. & Phillips, D.I. (2001).The impact of fetal size and length of gestation on 6-sulphatoxymelatonin excretion in adult life. Journal of Pineal Research 30, 188-92

Kirby, C.P. & Sparnon, A.L. (2001).Active observation of children with possible appendicitis does not increase morbidity. Australian and New Zealand Journal of Surgery 71, 412-3

Kirby, C.P. & Sparnon, A.L. (2001).Appendicectomy--becoming a rare event. Medical Journal of Australia 175, 500

Kremmidiotis, G., Gardner, A.E., Settasatian, C., Savoia, A., Sutherland, G.R. & Callen, D.F. (2001).Molecular and functional analyses of the human and mouse genes encoding AFG3L1, a mitochondrial metalloprotease homologous to the human spastic paraplegia protein. Genomics 76, 58-65

Lai, Y., Rolling, F., Baker, E. & Rakoczy, P. (2001).Kinetics of efficient recombinant adeno-associated virus transduction in retinal pigment epithelial cells. Experimental Cell Research 267, 184-192

Lawrence, G., Tudehope, D., Baumann, K., Jeffery, H., Gill, A., Cole, M., Drew, J., McPhee, A., Ratcliffe, J., Reynolds, G., Simes, J., Swanson, C., Cartwright, D., Davis, P., Humphrey, I. & Berry, A. (2001).Enteral human IgG for prevention of necrotising enterocolitis: a placebo-controlled, randomised trial. Lancet 357, 2090-4

Litjens, T. & Hopwood, J.J. (2001).Mucopolysaccharidosis type VI: Structural and clinical implications of mutations in N-acetylgalactosamine-4-sulfatase. Human Mutation 18, 282-95

Lower, K.M. & Gecz, J. (2001).Characterization of ARHGEF6, a guanine nucleotide exchange factor for Rho GTPases and a candidate gene for X-linked mental retardation: mutation screening in Borjeson-Forssman-Lehmann syndrome and MRX27. American Journal of Medical Genetics 100, 43-8

Lyons, R.J., Deane, R., Lynch, D.K., Ye, Z.S., Sanderson, G.M., Eyre, H.J., Sutherland, G.R. & Daly, R.J. (2001).Identification of a novel human tankyrase through its interaction with the adaptor protein Grb14. Journal of Biological Chemistry 276, 17172-80

Magarey, A.M., Daniels, L.A., Boulton, T.J. & Cockington, R.A. (2001).Does fat intake predict adiposity in healthy children and adolescents aged 2--15 y? A longitudinal analysis. European Journal of Clinical Nutrition 55, 471-81

Mason, D., Andre, P., Bensussan, A., Buckley, C., Civin, C., Clark, E., de Haas, M., Goyert, S., Hadam, M., Hart, D., Horejsi, V., Meuer, S., Morrissey, J., Schwartz Albiez, R., Shaw, S., Simmons, D., Uguccioni, M., van der Schoot, E., Vivier, E. & Zola, H. (2001).CD antigens 2001. International Immunology 13, 1095-8

Massie, R.J., Poplawski, N., Wilcken, B., Goldblatt, J., Byrnes, C. & Robertson, C. (2001).Intron-8 polythymidine sequence in Australasian individuals with CF mutations R117H and R117C. European Respiratory Journal 17, 1195-200

Master, V., Roberts, G.W., Coulthard, K.P., Baghurst, P.A., Martin, A., Roberts, M.E., Onishko, C.R., Martin, A.J., Linke, R.J., Holmes, M., Jarvinen, A., Kennedy, D., Colebatch, K.A., Hansman, D. & Parsons, D.W. (2001).Efficacy of once-daily tobramycin monotherapy for acute pulmonary exacerbations of cystic fibrosis: a preliminary study. Pediatric Pulmonology 31, 367-76

Mavrangelos, C., Thiel, M., Adamson, P.J., Millard, D.J., Nobbs, S., Zola, H. & Nicholson, I.C. (2001).Increased yield and activity of soluble single-chain antibody fragments by combining high-level expression and the Skp periplasmic chaperonin. Protein Expression and Purification 23, 289-95

Meiser, B., Butow, P.N., Barratt, A.L., Schnieden, V., Gattas, M., Kirk, J., Gaff, C., Suthers, G. & Tucker, K. (2001).Long-term outcomes of genetic counseling in women at increased risk of developing hereditary breast cancer. Patient Education & Counseling 44, 215-25

Moretti, P., Davidson, A., Baker, E., Lilley, B., Zon, L. & D'Andrea, R. (2001).Molecular cloning of a human Vent-like homeobox gene. Genomics 76, 21-29

Mugford, B. & Martin, A. (2001).Rural rotations for interns: a demonstartion programme in South Australia. Australian Journal of Rural Health 9, S27-S31

O'Keefe, M. (2001).Should parents assess the interpersonal skills of doctors who treat their children? A literature review. Journal of Paediatrics & Child Health 37, 531-538

O'Keefe, M., Sawyer, M. & Roberton, D. (2001).Medical student interviewing skills and mother-reported satisfaction and recall. Medical Education 35, 637-44

O'Keefe, M., White, D., Spurrier, N. & Fox, N. (2001).An inter-university community child health clinical placement programme for medical students. Medical Education 35, 384-90

Pacyna, J., Siwek, K., Terry, S.J., Roberton, E.S., Johnson, R.B. & Davidson, G.P. (2001).Survival of rotavirus antibody activity derived from bovine colostrum after passage through the human gastrointestinal tract. Journal of Pediatric Gastroenterology and Nutrition 32, 162-7

Penttila, I., Zhang, M.F., Bates, E., Read, L.C. & Zola, H. (2001).Milk whey growth factor extract and immune regulation in suckling rat pups. Journal of Dairy Research 68, 587-599

Perkins, K.J., Muller, V., Weber, B. & Hopwood, J.J. (2001).Prediction of Sanfilippo phenotype severity from immunoquantification of heparan-N-sulfamidase in cultured fibroblasts from mucopolysaccharidosis type IIIA patients. Molecular Genetics & Metabolism 73, 306-12

Phelan, P.D., Roberton, D.M. & South, M. (2001).Defining moments in medicine. Paediatrics. Medical Journal of Australia 174, 16-7

Phillips, H.A., Favre, I., Kirkpatrick, M., Zuberi, S.M., Goudie, D., Heron, S.E., Scheffer, I.E., Sutherland, G.R., Berkovic, S.F., Bertrand, D. & Mulley, J.C. (2001).CHRNB2 is the second acetylcholine receptor subunit associated with autosomal dominant nocturnal frontal lobe epilepsy. American Journal of Human Genetics 68, 225-31

Piotto, L., LeQuesne, G.W., Gent, R., Bourne, A.J., Freeman, J. & Ford, W.D. (2001).Congenital cystic dysplasia of the rete testis. Pediatric Radiology 31, 724-6

Raben, N., Lee, A., Lu, N., Nagaraju, X., Plotz, P., Rivera, Y. & Hopwood, J. (2001).Tissue Specific Inducible Expression Of The Human Acid [alpha]-Glucosidase (GAA) Gene In GAA KO Mice: Implications For Therapy (abstract). Journal of Inherited Metabolic Disease 24, 784-785

Raben, N., Lu, N., Nagaraju, K., Rivera, Y., Lee, A., Yan, B., Byrne, B., Meikle, P.J., Umapathysivam, K., Hopwood, J.J. & Plotz, P.H. (2001).Conditional tissue-specific expression of the acid alpha-glucosidase (GAA) gene in the GAA knockout mice: implications for therapy. Human Molecular Genetics 10, 2039-47

Rae, F.K., Hooper, J.D., Eyre, H.J., Sutherland, G.R., Nicol, D.L. & Clements, J.A. (2001).TTYH2, a human homologue of the Drosophila melanogaster gene tweety, is located on 17q24 and upregulated in renal cell carcinoma. Genomics 77, 200-7

Rey, J.M., Sawyer, M.G., Clark, J.J. & Baghurst, P.A. (2001).Depression among Australian adolescents. Medical Journal of Australia 175, 19-23

Ritz, M.A., Fraser, R., Edwards, N., Di Matteo, A.C., Chapman, M., Butler, R., Cmielewski, P., Tournadre, J.P., Davidson, G. & Dent, J. (2001).Delayed gastric emptying in ventilated critically ill patients: measurement by 13 C-octanoic acid breath test. Critical Care Medicine 29, 1744-9

Ryall, R.G., Callen, D., Cocciolone, R., Duvnjak, A., Esca, R., Frantzis, N., Gjerde, E.M., Haan, E.A., Hocking, T., Sutherland, G., Thomas, D.W. & Webb, F. (2001).Karyotypes found in the population declared at increased risk of Down syndrome following maternal serum screening. Prenatal Diagnosis 21, 553-7

Sallustio, B.C. & Holbrook, F.L. (2001).In vivo perturbation of rat hepatocyte canalicular membrane function by diclofenac. Drug Metabolism & Disposition 29, 1535-8

Sawyer, M.G., Arney, F.M., Baghurst, P.A., Clark, J.J., Graetz, B.W., Kosky, R.J., Nurcombe, B., Patton, G.C., Prior, M.R., Raphael, B., Rey, J.M., Whaites, L.C. & Zubrick, S.R. (2001).The mental health of young people in Australia: key findings from the child and adolescent component of the national survey of mental health and well-being. Australian and New Zealand Journal of Psychiatry 35, 806-814

Sawyer, M.G., Spurrier, N., Kennedy, D. & Martin, J. (2001).The relationship between the quality of life of children with asthma and family functioning. Journal of Asthma 38, 279-84

Sawyer, M.G., Spurrier, N., Whaites, L., Kennedy, D., Martin, A.J. & Baghurst, P. (2001).The relationship between asthma severity, family functioning and the health-related quality of life of children with asthma. Quality of Life Research 9, 1105-1115

Scheffer, I.E., Wallace, R., Mulley, J.C. & Berkovic, S.F. (2001).Clinical and molecular genetics of myoclonic-astatic epilepsy and severe myoclonic epilepsy in infancy (Dravet syndrome). Brain & Development 23, 732-5

Senaratna, S., Hanieh, A., Manson, J. & Toogood, I. (2001).Multiple cystic brain lesions in a patient with pilocytic astrocytoma. 8, 363-6

Shanks, D., Goldwater, P., Pena, A. & Saxon, B. (2001).Fatal Micrococcus sp. infection in a child with leukaemia--a cautionary case. Medical & Pediatric Oncology 37, 553-4

Shimizu, Y., Honda, S., Yotsumoto, K., Tahara Hanaoka, S., Eyre, H.J., Sutherland, G.R., Endo, Y., Shibuya, K., Koyama, A., Nakauchi, H. & Shibuya, A. (2001).Fc(alpha)/mu receptor is a single gene-family member closely related to polymeric immunoglobulin receptor encoded on Chromosome 1. Immunogenetics 53, 709-11

Tan, H.L. (2001).Laparoscopic Anderson-Hynes dismembered pyeloplasty in children using needlescopic instrumentation. Urologic Clinics of North America 28, 43-51, viii

Tan, H.L. (2001).Laparoscopic Herniotomy (letter). 36, 833

Tan, H.L. (2001).Laparoscopic urology. in Laparoscopy in Pediatric Urology (eds Gearhart, J.P., Rink, R.C. & Mouriquand, P.D.E.), Philadelphia, USA, pp 149-160

Tarran, R., Grubb, B.R., Parsons, D., Picher, M., Hirsh, A.J., Davis, C.W. & Boucher, R.C. (2001).The CF salt controversy: in vivo observations and therapeutic approaches. Molecular Cell 8, 149-58

Tiller, G.E., Hannig, V.L., Dozier, D., Carrel, L., Trevarthen, K.C., Wilcox, W.R., Mundlos, S., Haines, J.L., Gedeon, A.K. & Gecz, J. (2001).A recurrent RNA-splicing mutation in the SEDL gene causes X-linked spondyloepiphyseal dysplasia tarda. American Journal of Human Genetics 68, 1398-407

Umapathysivam, K., Hopwood, J.J. & Meikle, P.J. (2001).Determination of acid alpha-glucosidase activity in blood spots as a diagnostic test for Pompe disease. Clinical Chemistry 47, 1378-83

von Richter, O., Greiner, B., Fromm, M.F., Fraser, R., Omari, T., Barclay, M.L., Dent, J., Somogyi, A.A. & Eichelbaum, M. (2001).Determination of in vivo absorption, metabolism, and transport of drugs by the human intestinal wall and liver with a novel perfusion technique. Clinical Pharmacology & Therapeutics 70, 217-27

Wallace, R.H., Marini, C., Petrou, S., Harkin, L.A., Bowser, D.N., Panchal, R.G., Williams, D.A., Sutherland, G.R., Mulley, J.C., Scheffer, I.E. & Berkovic, S.F. (2001).Mutant GABA(A) receptor gamma2-subunit in childhood absence epilepsy and febrile seizures. Nature Genetics 28, 49-52

Wallace, R.H., Scheffer, I.E., Barnett, S., Richards, M., Dibbens, L., Desai, R.R., Lerman Sagie, T., Lev, D., Mazarib, A., Brand, N., Ben Zeev, B., Goikhman, I., Singh, R., Kremmidiotis, G., Gardner, A., Sutherland, G.R., George, A.L., Jr., Mulley, J.C. & Berkovic, S.F. (2001).Neuronal sodium-channel alpha1-subunit mutations in generalized epilepsy with febrile seizures plus. American Journal of Human Genetics 68, 859-65

Wang, W.W., Spurdle, A.B., Kolachana, P., Bove, B., Modan, B., Ebbers, S.M., Suthers, G., Tucker, M.A., Kaufman, D.J., Doody, M.M., Tarone, R.E., Daly, M., Levavi, H., Pierce, H., Chetrit, A., Yechezkel, G.H., Chenevix Trench, G., Offit, K., Godwin, A.K. & Struewing, J.P. (2001).A single nucleotide polymorphism in the 5' untranslated region of RAD51 and risk of cancer among BRCA1/2 mutation carriers. Cancer Epidemiology Biomarkers & Prevention 10, 955-60

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