Newcastle University

Institute of Genetic Medicine Publications

Year: 2013 2012 2011 2010 2009 2008 2007 2006 2005 2004 2003 2002 2001 2000 1999 1998 1997 1996 1995 1994 1993 1992 1991 1990 1989 1988 1987 1986 1985 1984 1979 1978

• Healey CS, Dunning AM, Dawn Teare M, Chase D, Parker L, Burn J, Chang-Claude J, Mannermaa A, Kataja V, Huntsman DG, Pharoah PDP, Luben RN, Easton DF, Ponder BAJ. A common variant in BRCA2 is associated with both breast cancer risk and prenatal viability. Nature Genetics 2000, 26(3), 362-364.
• Elliott DJ, Bourgeois CF, Klink A, Stevenin J, Cooke HJ. A mammalian germ cell-specific RNA binding protein interacts with ubiquitously expressed proteins involved in splice site selection. Proceedings of the National Academy of Science (USA) 2000, 97(11), 5717-5722.
• Burn J, Curtis AR, Bindoff L, Ince P, Coulthard A, Jackson A, Jackson M, Fey C, Hay D, Shepherd D, Bates D, Curtis A. A novel autosomal dominant basal ganglia degeneration with cavitation on 19q can mimic Parkinson's disease and Huntington's disease. American Journal of Human Genetics 2000, 67(4), 371-371.
• Clarke MP, Barker MD, Langton KP, Curtis A, Goodship JA, Bond PM, Mitchell KA, McKie N. A novel TIMP-3 mutation reveals a common molecular phenotype in Sorsby's fundus dystrophy. In: INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE. 2000.
• Langton KP, McKie N, Curtis A, Goodship JA, Bond PM, Barker MD, Clarke M. A novel tissue inhibitor of metalloproteinases-3 mutation reveals a common molecular phenotype in Sorsby's fundus dystrophy. Journal of Biological Chemistry 2000, 275(35), 27027-27031.
• Steel DHW, West J, Campbell WG. A randomized controlled study of the use of transscleral diode laser and cryotherapy in the management of rhegmatogenous retinal detachment. Retina 2000, 20(4), 346-357.
• Craggs A, West SP, Curtis A, Welfare M, Hudson M, Donaldson PT, Mansfield JC. Absence of a genetic association between IL-1RN and ulcerative colitis in multiple populations from NE England. In: GUT. 2000.
• Louden JD, Roberts RG, Goodship THJ. Acid-Base in Renal Failure: What have isotope studies in humans told us about the nutritional effects of acidosis in dialysis?. Seminars in Dialysis 2000, 13(4), 247-251.
• Marsden PJ, Murdoch AP, Taylor R. Adipocyte insulin action in hypogonadotrophic hypogonadism. Human Reproduction 2000, 15(8), 1672-1678.
• Meller D, Pires RTF, Mack RJS, Figueiredo F, Heiligenhaus A, Park WC, Prabhasawat P, John T, McLeod SD, Steuhl KP, Tseng SCG. Amniotic membrane transplantation for acute chemical or thermal burns. Ophthalmology 2000, 107(5), 980-989.
• Roberts RG, Louden JD, Goodship THJ. An assessment of the methods available to determine nutritional equilibrium in patients with chronic renal failure. Nephrology Dialysis Transplantation 2000, 15(12), 1906-1908.
• Elliott DJ, Venables JP, Newton CS, Lawson D, Boyle S, Eperon IC, Cooke HJ. An evolutionarily conserved germ cell-specific hnRNP is encoded by a retrotransposed gene. Human Molecular Genetics 2000, 9(14), 2117-2124.
• English CJ, Atkey NWS, Linton G, Napier CJ, Cameron HM, Mason GC, Murray BJ. An unusual case of trisomy and triploidy in a chorion villus biopsy. Prenatal Diagnosis 2000, 20(11), 917-920.
• Taylor RW, Andrews RM, Chinnery PF, Turnbull DM. Analysis of mitochondrial DNA mutations: point mutations. Ageing Methods and Protocols Humana Press New Jersey 265-277 2000.
• Healey C, Dunning AM, Teare DM, Chase D, Burn J, Chang-Claude J, Mannermaa A, Easton DF, Ponder BAJ, Parker L, Kataja V, Pharoah PDP, Luben RN. Association of a common variant in BRCA2 with breast cancer and pre-natal development. In: JOURNAL OF MEDICAL GENETICS. 2000.
• Lynch SA, Wang Y, Strachan T, Burn J, Lindsay S. Autosomal dominant sacral agenesis: Currarino syndrome. Journal of Medical Genetics 2000, 37(8), 561-566.
• Goodship J, Gill H, Carter J, Jackson A, Splitt M, Wright M. Autozygosity mapping of a Seckel Syndrome Locus to chromosome 3q22.1-q24. American Journal of Human Genetics 2000, 67(2), 498-503.
• Aird I, Barratt C, Murdoch A. BFS recommendations for good practice on the screening of egg and embryo donors. Human Fertility 2000, 3(3), 162-165.
• Nugent D, Hamilton M, Murdoch A. BFS recommendations for good practice on the storage of ovarian and prepubertal testicular tissue. Human Fertility 2000, 3(1), 5-8.
• Bartram SA, Hainsworth PJ, Mansfield J, Peaston R, Francis RM, Walshaw D, Thompson NP. Bone mineral density & risk factors for osteoporosis in patients with Crohn's disease. In: GASTROENTEROLOGY. 2000.
• Acerini CL, Cheetham TD, Edge JA, Dunger DB. Both insulin sensitivity and insulin clearance in children and young adults with Type I (insulin-dependent) diabetes vary with growth hormone concentrations and with age. Diabetologia 2000, 43(1), 61-68.
• Blank SC, Lyall R, Bushby KMD, Keers S, Coulthard A, Street E, Morris C, Kalaria RN, Ince P, Burn DJ. CADASIL in a British family: a multidisciplinary approach with NOTCH 3 mutation analysis. BRAIN, (In Press)<br>(Article) 2000.
• Cohen SBA, Wang XN, Dickinson A. Can cord blood cells support the cytokine storm in GvHD?. Cytokine and Growth Factor Reviews 2000, 11(3), 185-197.
• Hopwood P, Wonderling D, Cull A, Douglas F, Watson M, Burn J, McPherson K, Cole T, Eccles D, Gray J, Murday V, Steel M. Cancer genetics counselling - psychosocial outcomes one month after first consultation. In: JOURNAL OF MEDICAL GENETICS. 2000.
• Goodship J. Cardiac surgery in the setting of trisomy 13. Cardiology in the Young 2000, 10(6), 560-560.
• Sayer J, Stewart G, Boese SH, Gray MA, Simmons NL. Cellular location and functional analysis of a murine C1(-) channel expressed in a human embryonic kidney cell line (HEK). In: JOURNAL OF PHYSIOLOGY-LONDON. 2000.
• Horvath R, Lochmuller H, Stucka R, Yao J, Shoubridge EA, Kim SH, Gerbitz KD, Jaksch M. Characterization of human SCO1 and COX17 genes in mitochondrial cytochrome-c-oxidase deficiency. Biochemical and Biophysical Research Communications 2000, 276(2), 530-533.
• Bonne G, Mercuri E, Muchir A, Urtizberea A, Becane HM, Recan D, Merlini L, Wehnert M, Boor R, Reuner U, Vorgerd M, Wicklein EM, Eymard B, Duboc D, Penisson-Besnier I, Cuisset JM, Ferrer X, Desguerre I, Lacombe D, Bushby K, Pollitt C, Toniolo D, Fardeau M, Schwartz K, Muntoni F. Clinical and molecular genetic spectrum of autosomal dominant Emery-Dreifuss muscular dystrophy due to mutations of the lamin A/C gene. Annals of Neurology 2000, 48(2), 170-180.
• White KD, Ince PG, Lusher M, Lindsey JC, Cookson M, Bashir R, Shaw PJ, Bushby KMD. Clinical and pathologic findings in hereditary spastic paraparesis with spastin mutation. Neurology 2000, 55(1), 89-94.
• Nicholls AC, Sher JL, Wright MJ, Oley C, Mueller RF, Pope FM. Clinical phenotypes and molecular characterisation of three patients with Ehlers-Danlos syndrome type VII. Journal of Medical Genetics 2000, 37(11), E33.
• de Vries BBA, White SM, Knight SJL, Homfray T, Young I, Kerr B, McKeown C, Splitt M, Quarrell OWJ, Trainer AH, Niermeijer MF, Malcolm S. Clinical studies on subtle chromosomal rearrangements: experiences in the UK. In: AMERICAN JOURNAL OF HUMAN GENETICS. 2000.
• Evbuomwan I, Davison JM, Murdoch AP. Coexistent hemoconcentration and hypoosmolality during superovulation and in severe ovarian hyperstimulation syndrome: a volume homeostasis paradox. In: British Fertility Society Annual Conference. 2000, Sheffield, United Kingdom: Elsevier.
• Evbuomwan IO, Davison JM, Murdoch AP. Coexistent hemoconcentration and hypoosmolality during superovulation and in severe ovarian hyperstimulation syndrome: A volume homeostasis paradox. Fertility and Sterility 2000, 74(1), 67-72.
• Buddles MRH, Donne RL, Richards A, Goodship J, Goodship THJ. Complement factor H gene mutation associated with autosomal recessive atypical hemolytic uremic syndrome. American Journal of Human Genetics 2000, 66(5), 1721-1722.
• Straub V, Donahue KM, Allamand V, Davisson RL, Kim YR, Campbell KP. Contrast agent-enhanced magnetic resonance imaging of skeletal muscle damage in animal models of muscular dystrophy. Magnetic Resonance in Medicine 2000, 44(4), 655-659.
• Agarwal K, Jones DEJ, Daly AK, James OFW, Vaidya B, Pearce S, Bassendine MF. CTLA-4 gene polymorphism confers susceptibility to primary biliary cirrhosis. Journal of Hepatology 2000, 32(4), 538-541.
• Rowe D, Cotterill SJ, Ross FM, Bunyan DJ, Vickers SJ, Bryon J, McMullan DJ, Griffiths MJ, Reilly JT, Vandenberghe EA, Wilson G, Watmore AE, Bown NP. Cytogenetically cryptic AML1 - ETO and CBFβ - MYH11 gene rearrangements: Incidence in 412 cases of acute myeloid leukaemia. British Journal of Haematology 2000, 111(4), 1051-1056.
• Bown NP, Rowe D, Cotterill SJ, Ross FM, Bunyan DJ, Vickers SJ, Bryon J, McMullan DJ, Griffiths MJ, Watmore A, Reilly JT, Vandenberghe EA, Wilson G. Cytogenetically cryptic rearrangements of AML1/ETO and CBFB/MYH11 in acute myeloid leukemia. In: BLOOD. 2000.
• Borner GV, Zeviani M, Tiranti V, Carrara F, Hoffmann S, Gerbitz KD, Lochmuller H, Pongratz D, Klopstock T, Melberg A, Holme E, Paabo S. Decreased aminoacylation of mutant tRNAs in MELAS but not in MERRF patients. Human Molecular Genetics 2000, 9(4), 467-475.
• Fidalgo P, Almeida MR, West S, Gaspar C, Maia L, Wijnen J, Albuquerque C, Curtis A, Cravo M, Fodde R, Leitao CN, Burn J. Detection of mutations in mismatch repair genes in Portuguese families with hereditary non-polyposis colorectal cancer (HNPCC) by a multi-method approach. European Journal of Human Genetics 2000, 8(1), 49-53.
• Herrmann R, Straub V, Blank M, Kutzick C, Franke N, Jacob EN, Lenard HG, Kroger S, Voit T. Dissociation of the dystroglycan complex in caveolin-3-deficient limb girdle muscular dystrophy. Human Molecular Genetics 2000, 9(15), 2335-2340.
• Farooqi IS, Yeo GSH, Keogh JM, Aminian S, Jebb SA, Butler G, Cheetham T, O'Rahilly S. Dominant and recessive inheritance of morbid obesity associated with melanocortin 4 receptor deficiency. Journal of Clinical Investigation 2000, 106(2), 271-279.
• Bushby KMD. Dysferlin and muscular dystrophy. Acta Neurologica Belgica 2000, 100(3), 142-145.
• Bushby KMD. Dysferlin deficiency clinical and molecular insight. Acta Myologica 2000, 19(DECEMBER), 209-214.
• Allamand V, Donahue KM, Straub V, Davisson RL, Davidson BL, Campbell KP. Early adenovirus-mediated gene transfer effectively prevents muscular dystrophy in alpha-sarcoglycan-deficient mice. Gene Therapy 2000, 7(16), 1385-1391.
• Finnell RH, Burn J. Effect of anti-epileptic drugs on intrauterine growth. Lancet 2000, 356(9241), 1537-1538.
• Herlihy OM, Perros P. Elevated serum growth hormone in a patient with Type 1 diabetes: a diagnostic dilemma. Diabetes/Metabolism Research and Reviews 2000, 16(3), 211-216.
• Griffiths TA, Murdoch AP, Herbert M. Embryonic development in vitro is compromised by the ICSI procedure. Human Reproduction 2000, 15(7), 1592-1596.
• Arthur HM, Ure J, Smith AJH, Renforth G, Wilson DI, Torsney E, Charlton R, Parums DV, Jowett T, Marchuk DA, Burn J, Diamond AG. Endoglin, an ancillary TGFβ receptor, is required for extraembryonic angiogenesis and plays a key role in heart development. Developmental Biology 2000, 217(1), 42-53.
• Stewart JA, Bulmer JN, Searle RF, Murdoch AP. Endometrial steroid hormone receptor in relation to unexplained sub-fertility and parity. J Reproduction and Fertility 2000, Abstract Series No 25, 46.
• Perros P, Frier BM. Evaluation of an on-call diabetes service in a large teaching hospital. Diabetic Medicine 2000, 17(5), 386-389.
• James AL, Chilvers KF, Perry JD, Armstrong L, Gould FK. Evaluation of p-naphtholbenzein-beta-D-galactoside as a substrate for bacterial beta-galactosidase. Applied and Environmental Microbiology 2000, 66(12), 5521-5523.
• Bown N, Waters JJ, UKNEQAS. External quality assessment of hematological cytogenetics in the UK. In: BLOOD. 2000.
• Goodship JA, Buddles MRH, Richards A, Donne RL, Warwicker P, Goodship THJ. Factor H mutation in familiar and sporadic hemolytic uremic syndrome. In: AMERICAN JOURNAL OF HUMAN GENETICS. 2000.
• Keavney B. Genetic association studies in complex diseases. Journal of Human Hypertension 2000, 14(6), 361-367.
• Pinkett R, Spencer V, Curtis A, Hamzehloei T, Cross I, Burn J, Douglas F, West S, Chapman P, Gunn A. Genetic testing for familiar adenomatous polyposis coli (FAP) in Newcastle: eight years on. In: JOURNAL OF MEDICAL GENETICS. 2000.
• Bushby K. Genetics and the muscular dystrophies. Developmental Medicine & Child Neurology 2000, 42(11), 780-784.
• Bushby K. Genetics and the muscular dystrophies. DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY 2000, 42(11), 780-784.
• Winkelmann BR, Hager J, Kraus WE, Merlini P, Keavney B, Grant PJ, Muhlestein JB, Granger CB. Genetics of coronary heart disease: Current knowledge and research principles. American Heart Journal 2000, 140(4), S11-26.
• McDermott CJ, Dayaratne RK, Tomkins J, Johnson MA, Casari G, Turnbull DM, Bushby K, Shaw PJ. Hereditary spastic paraparesis with amyotrophy and OXPHOS muscle defect associated with a deletion in the paraplegin (SPG7) gene with apparent autosomal dominant transmission. Neurology 2000, 54, A425-A425.
• Thomas NJ, Morris CM, Scaravilli F, Johansson J, Rossor M, De Lange R, St Clair D, Nicoll J, Blank C, Coulthard A, Bushby K, Ince PG, Burn D, Kalaria RN. Hereditary vascular dementia linked to Notch 3 mutations: CADASIL in British families. Annals of the New York Academy of Sciences 2000, 903, 293-298.
• Armstrong F, Kirby J, Higgins CA, Coaker J, Mathers JC. High dose Hylon VII increases tumourigenesis and decreases lymphocyte proliferation in Min mice. In: PROCEEDINGS OF THE NUTRITION SOCIETY. 2000.
• Fougerousse F, Bullen P, Herasse M, Lindsay S, Richard I, Wilson D, Suel L, Durand M, Robson S, Abitbol M, Beckmann JS, Strachan T. Human-mouse differences in the embryonic expression patterns of developmental control genes and disease genes. Human Molecular Genetics 2000, 9(2), 165-173.
• Bignell GR, Warren W, Seal S, Takahashi M, Rapley E, Barfoot R, Green H, Brown C, Biggs PJ, Lakhani SR, Jones C, Hansen J, Blair E, Hofmann B, Siebert R, Turner G, Gareth Evans D, Schrander-Stumpel C, Beemer FA, Van Den Ouweland A, Halley D, Delpech B, Cleveland MG, Leigh I, Leisti J, Rasmussen S, Wallace MR, Fenske C, Banerjee P, Oiso N, Chaggar R, Merrett S, Leonard N, Huber M, Hohl D, Chapman P, Burn J, Swift S, Smith A, Ashworth A, Stratton MR. Identification of the familial cylindromatosis tumour-suppressor gene. Nature Genetics 2000, 25(2), 160-165.
• Creighton JE, Roberts C, Pinkett R, Lyall R, Wilson DI, Curtis A, Charnley RM. Idiopathic chronic pancreatitis is associated with mutations in the cationic trypsinogen and cystic fibrosis transmembrane conductance regulator genes. In: GUT. 2000.
• Taylor RW, Chinnery PF, Turnbull DM, Lightowlers RN. In-vitro genetic modification of mitochondrial function. Human Reproduction 2000, 15(2), 79-85.
• Daniel CP, Fisher A, Parker L, Burn J, Tawn EJ. Individual variation in somatic mutations of the glycophorin-A gene in neonates in relation to pre-natal factors. Mutation Research - Genetic Toxicology and Environmental Mutagenesis 2000, 467(2), 153-159.
• Deeb AA, Bruce SN, Morris AAM, Cheetham TD. Infantile hypophosphatasia: disappointing results of treatment. Acta Paediatrica 2000, 89(6), 730-733.
• Mickleburgh I, Buddles M, West SP, Mathers JC, Curtis A. Interaction of selected food constituents with APC function in enterocytes. In: JOURNAL OF MEDICAL GENETICS. 2000.
• Lynn S, Hattersley AT, McCarthy MI, Frayling TM, Turnbull DM, Walker M. Intermediate expansions of a X25/frataxin gene GAA repeat and Type II diabetes: Assessment using parent-offspring trios [1]. Diabetologia 2000, 43(3), 384-385.
• Lako M, Lindsay S, Cairns PM, Lincoln J, Armstrong L, Hole N. Involvement of Wnt genes in early haematopoiesis and identification of Wnt3 as a regulator of haematopoietic commitment. In: BLOOD. 2000.
• Basu A, Ball SG, Cross IE, Quinton R. Isodicentric Y-chromosomal abnormality associated with cryptorchidism and severe hypogonadotrophic pubertal delay. Journal of Endocrinology 2000, 164(Supplement), P68.
• Keavney BD, McKenzie CA, Parish S, Palmer A, Clark S, Youngman L, Delepine M, Lathrop M, Peto R, Collins R. Large scale test of hypothesised associations between the angiotensin-converting-enzyme insertion/deletion polymorphism and myocardial infarction in about 5000 cases and 6000 controls. The Lancet 2000, 355(9202), 434-442.
• Keavney B, McKenzie C, Parish S, Palmer A, Clark S, Youngman L, Delepine M, Lathrop M, Peto R, Collins R. Large-scale test of hypothesised associations between the angiotensin-converting-enzyme insertion/deletion polymorphism and myocardial infarction in about 5000 cases and 6000 controls. International Studies of Infarct Survival (ISIS) Collaborators. Lancet 2000, 355(9202), 434-442.
• Horvath R, Abicht A, Shoubridge EA, Karcagi V, Razsa C, Komoly S, Lochmaller H. Leber's hereditary optic neuropathy presenting as multiple sclerosis-like disease of the CNS. Journal of Neurology 2000, 247(1), 65-67.
• Takahashi M, Rapley E, Biggs PJ, Lakhani SR, Cooke D, Hansen J, Blair E, Hofmann B, Siebert R, Turner G, Evans DG, Schrander-Stumpel C, Beemer FA, Van Vloten WA, Breuning MH, Van Den Ouweland A, Halley D, Delpech B, Cleveland M, Leigh I, Chapman P, Burn J, Hohl D, Gorog J-P, Seal S, Mangion J, Warren W, Bignell G, Stratton MR. Linkage and LOH studies in 19 cylindromatosis families show no evidence of genetic heterogeneity and refine the CYLD locus on chromosome 16q12-q13. Human Genetics 2000, 106(1), 58-65.
• Goodship THJ, Stoddart JT, Martinek V, Geetha D, Brown AL, Ward MK, Kerr DNS, Owen JP, Wilkinson R. Long-term follow-up of patients presenting to adult nephrologists with chronic pyelonephritis and 'normal' renal function. QJM - Monthly Journal of the Association of Physicians 2000, 93(12), 799-803.
• Keavney B, Bird R, Caiazza A, Casadei B, Conway J. Measurement of blood pressure using the auscultatory and oscillometric methods in the same cuff deflation: validation and field trial of the A&D TM2421 monitor. Journal of Human Hypertension 2000, 14(9), 573-579.
• Kalaria RN, Cookson NJ, Mizuno T, Oakley A, Morris CM, Coulthard A, Bushby KMD, Nicoll J, Blank SC, De Lange RPJ, St Clair D, Burn DJ. Microvascular pathology in familial multi-infarct dementia or CADASIL: implications for cerebral blood flow. In: Fukuuchi, Y; Tomita, M; Koto, A, ed. Ischemic blood flow in the Brain. Tokyo, New York: Springer, 2000, pp.431-442.
• Jungbluth H, Sewry C, Brown SC, Manzur AY, Mercuri E, Bushby K, Rowe P, Johnson MA, Hughes I, Kelsey A, Dubowitz V, Muntoni F. Minicore myopathy in children: a clinical and histopathological study of 19 cases. Neuromuscular Disorders 2000, 10(4-5), 264-273.
• Jungbluth H, Sewry C, Brown SC, Manzur AY, Mercuri E, Bushby K, Rowe P, Johnson MA, Hughes I, Kelsey A, Dubowitz V, Muntoni F. Minicore myopathy in children: A clinical and histopathological study of 19 cases. Neuromuscular Disorders 2000, 10(4-5), 264-273.
• Chinnery PF, Taylor GA, Howell N, Andrews RM, Morris CM, Taylor RW, McKeith IG, Perry RH, Edwardson JA, Turnbull DM. Mitochondrial DNA haplogroups and susceptibility to AD and dementia with Lewy bodies. Neurology 2000,55 2 302-304.
• Chinnery PF, Turnbull DM. Mitochondrial DNA mutations in the pathogenesis of human disease. Molecular Medicine Today 2000, 6(11), 425-432.
• Satokata I, Ma L, Ohshima H, Bei M, Woo I, Nishizawa K, Maeda T, Takano Y, Uchiyama M, Heaney S, Peters H, Tang Z, Maxson R, Maas R. Msx-2 deficiency in mice causes pleiotropic defects in bone growth and ectodermal organ formation. Nature Genetics 2000, 24, 391-395.
• Armstrong L, Lako M, Lincoln J, Cairns PM, Hole N. mTert expression correlates with telomerase activity during the differentiation of murine embryonic stem cells. Mechanics of Development 2000, 97(1-2), 109-116.
• Cordell HJ, Wedig GC, Jacobs KB, Elston RC. Multilocus linkage tests based on affected relative pairs. American Journal of Human Genetics 2000, 66(4), 1273-1286.
• Argov Z, Sadeh M, Mazor K, Soffer D, Kahana E, Eisenberg I, Mitrani-Rosenbaum S, Richard I, Beckmann J, Keers S, Bashir R, Bushby K, Rosenmann H. Muscular dystrophy due to dysferlin deficiency in Libyan Jews - Clinical and genetic features. Brain 2000, 123(6), 1229-1237.
• Argov Z, Sadeh M, Mazor K, Soffer D, Kahana E, Eisenberg I, Mitrani-Rosenbaum S, Richard I, Beckmann J, Keers S, Bashir R, Bushby K, Rosenmann H. Muscular dystrophy due to dysferlin deficiency in Libyan Jews: Clinical and genetic features. Brain 2000, 123(6), 1229-1237.
• Hagan DM, Ross AJ, Strachan T, Lynch SA, Ruiz-Perez V, Wang YM, Scambler P. Mutation analysis and embryonic expression of the HLXB9 Currarino syndrome gene. American Journal of Human Genetics 2000, 66(5), 1504-1515.
• Hagan DM, Ross AJ, Strachan T, Lynch SA, Ruiz-Perez V, Wang YM, Scambler P, Custard E, Reardon W, Hassan S, Muenke M, Nixon P, Papapetrou C, Winter RM, Edwards Y, Morrison K, Barrow M, Cordier-Alex MP, Correia P, Galvin-Parton PA, Gaskill S, Gaskin KJ, Garcia-Minaur S, Gereige R, Hayward R, Homfray T, McKeown C, Murday V, Plauchu H, Shannon N, Spitz L, Lindsay S. Mutation analysis anti embryonic expression of the HLXB9 currarino syndrome gene. American Journal of Human Genetics 2000, 66(5), 1504-1515.
• Ruiz-Perez VL, Ide SE, Strom TM, Lorenz B, Wilson D, Woods K, King L, Francomano C, Freisinger P, Spranger S, Marino B, Dallapiccola B, Wright M, Meitinger T, Polymeropoulos MH, Goodship J. Mutations in a new gene in Ellis-van Creveld syndrome and Weyers acrodental dysostosis. Nature Genetics 2000, 24(3), 283-286.
• Satoda M, Zhao F, Diaz GA, Burn J, Goodship J, Davidson HR, Pierpont MEM, Gelb BD. Mutations in TFAP2B cause Char syndrome, a familial form of patent ductus arteriosus. Nature Genetics 2000, 25(1), 42-46.
• Creighton JE, Lyall R, Wilson DI, Curtis A, Charnley RM. Mutations of the cationic trypsinogen gene in patients with hereditary pancreatitis. British Journal of Surgery 2000, 87(2), 170-175.
• Muller-Hocker J, Schafer S, Mendel B, Lochmuller H, Pongratz D. Nemaline cardiomyopathy in a young adult: an ultraimmunohistochemical study and review of the literature. Ultrastructural Pathology 2000, 24(6), 407-416.
• Cottrell DA, Ince PG, Blakely EL, Johnson MA, Chinnery PF, Hanna M, Turnbull DM. Neuropathological and histochemical changes in a multiple mitochondrial DNA deletion disorder. Journal of Neuropathology and Experimental Neurology 2000. ,59 7 621-627.
• Figueiredo FC, Koay PYP. Opinions on risk factors and treatment preferences for corneal graft rejection. In: INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE. 2000.
• Vigen T, Haites N, Burn J, Moller P, Steel M. Patenting genes: a dangerous EU directive. British Journal of General Practice 2000, 50(453), 337.
• Chinnery PF, Taylor RW, Diekert K, Lill R, Turnbull DM, Lightowlers RN. Peptide nucleic acid and delivery to human mitochondria. Gene Therapy 2000, 7(9), 813.
• Chinnery PF, Taylor RW, Diekert K, Lill R, Turnbull DM, Lightowlers RN. Peptide nucleic acid delivery to human mitochondria (vol 6, pg 1919, 1999) Erratum. Gene Therapy 2000, 7(9), 813-813.
• Quinton R. Phenotypic aspects of Kallmann's syndrome. Cambridge: University of Cambridge, 2000.
• Brown MA, Edwards S, Hoyle E, Campbell S, Laval S, Daly AK, Pile KD, Calin A, Ebringer A, Weeks DE, Wordsworth BP. Polymorphisms of the CYP2D6 gene increase susceptibility to ankylosing spondylitis. Human Molecular Genetics 2000, 9(11), 1563-1566.
• Fairgrieve SD, Jackson M, Jonas P, Walshaw D, White K, Montgomery TL, Burn J, Lynch SA. Population based, prospective study of the care of women with epilepsy in pregnancy. British Medical Journal 2000, 321(7262), 674-675.
• Feather SA, Malcolm S, Woolf AS, Wright V, Blaydon D, Reid CJD, Flinter FA, Proesmans W, Devriendt K, Carter J, Warwicker P, Goodship THJ, Goodship JA. Primary, nonsyndromic vesicoureteric reflux and its nephropathy is genetically heterogeneous, with a locus on chromosome 1. American Journal of Human Genetics 2000, 66(4), 1420-1425.
• King T, Firth M, Kelly T, Huey D, Mansfield J, Plusa S. Psychological factors which influence adjustment to inflammatory bowel disease. In: GUT. 2000.
• Venables JP, Elliott DJ, Makarova OV, Makarov EM, Cooke HJ, Eperon IC. RBMY, a probable human spermatogenesis factor, and other hnRNP G proteins interact with Tra2beta and affect splicing. Human Molecular Genetics 2000, 9(5), 685-694.
• Vaidya B, Pearce S, Kendall-Taylor P. Recent advances in the molecular genetics of congenital and acquired primary adrenocortical failure. Clinical Endocrinology 2000, 53(4), 403-418.
• Granger CB, Keavney B, Francomano C, Olsson G, Yusuf S. Recommendations for national and local regulatory authorities concerning research in genetic markers of disease. American Heart Journal 2000, 140(4), S3-S5.
• Cottrell DA, Blakely EL, Borthwick GM, Johnson MA, Taylor GA, Brierley EJ, Ince PG, Turnbull DM. Role of mitochondrial DNA mutations in disease and aging. Annals of the New York Academy of Sciences 2000, 908(1), 199-207.
• McKenzie CA, Keavney B, Forrester T, Julier C, Ratcliffe PJ. Screening for the GRA mutation in Jamaica. Journal of Human Hypertension 2000, 14(2), 157-158.
• Lako M, Hole N. Searching the unknown with gene trapping. Expert Reviews in Molecular Medicine 2000.
• Cuthbert G, Thompson K, Breese G, McCullough S, Bown N. Sensitivity of FISH in detection of MLL traslocations. Genes, Chromosomes and Cancer 2000, 29(2), 180-185.
• Adamson K, Kendall-Taylor P, Cheetham TD, Pearce SHS. Spectrum of mutations in the AIRE1 gene in UK APS1 (APECED) kindreds. In: JOURNAL OF MEDICAL GENETICS. 2000.
• Elliott DJ. Splicing and the single cell. Histology and Histopathology 2000, 15(1), 239-249.
• Hanley NA, Hagan DM, Clement-Jones M, Ball SG, Strachan T, Salas-Cortes L, McElreavey K, Lindsay S, Robson S, Bullen P, Ostrer H, Wilson DI. SRY, SOX9, and DAX1 expression patterns during human sex determination and gonadal development. Mechanisms of Development 2000, 91(1-2), 403-407.
• Krams M, Quinton R, Ashburner J, Friston KJ, Frackowiak RSJ, Bouloux P-MG, Passingham RE. Structural MRI in X-linked Kallmann’s syndrome: voxel-based morphometry demonstrates hypoplasia of the entorhinal cortex. In: 11th International Congress of Endocrinology. 2000, Sydney.
• Abicht A, Lochmuller H. Technology evaluation: edrecolomab, Centocor Inc. Current Opinion in Molecular Therapeutics 2000, 2(5), 593-600.
• Chinnery PF, Johnson MA, Wardell TM, Singh-Kler R, Hayes C, Brown DT, Taylor RW, Bindoff LA, Turnbull DM. The epidemiology of pathogenic mitochondrial DNA mutations. Annals of Neurology 2000,48 2 188-193.
• Chinnery PF, Thorburn DR, Samuels DC, White SL, Dahl H-HM, Turnbull DM, Lightowlers RN, Howell N. The inheritance of mitochondrial DNA heteroplasmy: Random drift, selection or both?. Trends in Genetics 2000,16 11 500-505.
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