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

• Choudhary M, Zhang X, Lako M, Stojkovic M, Murdoch A. "Beauty and Beast" molecule: HA in early human development. BJOG 2009, 116(10), 1408.
• Phillips H, Boczonadi V, Chaudhry B, Henderson D. 03-P015: Rho kinase is required for cohesive behaviour of neural crest cells during outflow tract morphogenesis. In: Mechanisms of Development: 16th Annual Conference of the International Society of Development Biologists. 2009, Edinburgh, UK: Elsevier Ireland Ltd.
• Daly AK, Donaldson PT, Bhatnagar P, Shen Y, Pe'er I, Floratos A, Daly MJ, Goldstein DB, John S, Nelson MR, Graham J, Park BK, Dillon JF, Bernal W, Cordell HJ, Pirmohamed M, Aithal GP, Day CP, for the DILIGEN study, and International SAE Consortium. HLA-B*5701 genotype is a major determinant of drug-induced liver injury due to flucloxacillin. Nature Genetics 2009, 41(7), 816-819.
• Ghezzi D, Goffrini P, Uziel G, Horvath R, Klopstock T, Lochmuller H, D'Adamo P, Gasparini P, Strom TM, Prokisch H, Invernizzi F, Ferrero I, Zeviani M. SDHAF1, encoding a LYR complex-II specific assembly factor, is mutated in SDH-defective infantile leukoencephalopathy. Nature Genetics 2009, 41(6), 654-656.
• Pyle A, Ibbett IM, Gordon C, Keers SM, Walker M, Chinnery PF, Baudouin SV. A common UCP2 polymorphism predisposes to stress hyperglycaemia in severe sepsis. Journal of Medical Genetics 2009, 46(11), 773-775.
• Biernacka JM, Cordell HJ. A composite-likelihood approach for identifying polymorphisms that are potentially directly associated with disease. European Journal of Human Genetics 2009, 17(5), 644-650.
• Hammond KL, Loynes HE, Mowbray C, Runke G, Hammerschmidt M, Mullins MC, Hildreth V, Chaudhry B, Whitfield TT. A Late Role for bmp2b in the Morphogenesis of Semicircular Canal Ducts in the Zebrafish Inner Ear. PLoS One 2009, 4(2), e4368.
• Fellous TG, McDonald SAC, Burkert J, Humphries A, Islam S, De-Alwis NMW, Gutierrez-Gonzalez L, Tadrous PJ, Elia G, Kocher HM, Bhattacharya S, Mears L, El-Bahrawy M, Turnbull DM, Taylor RW, Greaves LC, Chinnery PF, Day CP, Wright NA, Alison MR. A Methodological Approach to Tracing Cell Lineage in Human Epithelial Tissues. Stem Cells 2009, 27(6), 1410-1420.
• Al-Hamed M, Sayer JA, Al-Hassoun I, Al-Dahmash M, Meyer B. A Novel Mutation in NPHS2 Causing Steroid Resistant Nephrotic Syndrome in a Saudi Arabian Family. In: Pediatric Nephrology: 42nd Annual Scientific Meeting of the European Society for Paediatric Nephrology A Joint Meeting with the Renal Association. 2009, Birmingham, UK: Springer.
• Tompson S, Merriman B, Funari VA, Fresquet M, Lachman RS, Rimoin DL, Nelson SF, Briggs MD, Cohn DH, Krakow D. A Recessive Skeletal Dysplasia, SEMD Aggrecan Type, Results from a Missense Mutation Affecting the C-Type Lectin Domain of Aggrecan. American Journal of Human Genetics 2009, 84(1), 72-79.
• Zhang X, Neganova I, Przyborski S, Yang CB, Cooke M, Atkinson SP, Anyfantis G, Fenyk S, Keith WN, Hoare SF, Hughes O, Strachan T, Stojkovic M, Hinds PW, Armstrong L, Lako M. A role for NANOG in G1 to S transition in human embryonic stem cells through direct binding of CDK6 and CDC25A. Journal of Cell Biology 2009, 184(1), 67-82.
• Griffin H, Brown R, Santibanez-Koref M, Burn J, Curtis A. A screening assay for BRCA1 and BRCA2 mutations based on nonsense mediated decay. In: Journal of Medical Genetics: British Human Genetics Conference. 2009, University of Warwick, UK: BMJ Group.
• Mochida GH, Mahajnah M, Hill AD, Basel-Vanagaite L, Gleason D, Hill RS, Bodell A, Crosier M, Straussberg R, Walsh CA. A Truncating Mutation of TRAPPC9 Is Associated with Autosomal-Recessive Intellectual Disability and Postnatal Microcephaly. American Journal of Human Genetics 2009, 85(6), 897-902.
• Wolny S, McFarland R, Chinnery P, Cheetham T. Abnormal growth in mitochondrial disease. Acta Paediatrica 2009, 98(3), 553-554.
• Spyridopoulos I, Hoffmann J, Aicher A, Brummendorf TH, Doerr HW, Zeiher AM, Dimmeler S. Accelerated Telomere Shortening in Leukocyte Subpopulations of Patients With Coronary Heart Disease: Role of Cytomegalovirus Seropositivity. Circulation 2009, 120(14), 1364-1372.
• Botha P, Parry G, Dark JH, MacGowan GA. Acute hemodynamic effects of intravenous sildenafil citrate in congestive heart failure: comparison of phosphodiesterase type-3 and -5 inhibition. Journal of Heart and Lung Transplantation 2009, 28, 676-82.
• Rajan P, Elliott DJ, Robson CN, Leung HY. Alternative splicing and biological heterogeneity in prostate cancer. Nature Reviews Urology 2009, 6(8), 454-460.
• Lu Y, Ryan SL, Elliott DJ, Bignell GR, Futreal PA, Ellison DW, Bailey S, Clifford SC. Amplification and overexpression of Hsa-miR-3ob, Hsa-miR-30d and KHDRBS3 at 8q24.22-q24.23 in medulloblastoma. PLoS ONE 2009, 4(7), e6159.
• Al-Diri B, Hunter A, Steel D. An active contour model for segmenting and measuring retinal vessels. IEEE Transactions on Medical Imaging 2009, 28(9), 1488-1497.
• Mitchell AL, Pearce SHS. An elderly woman with weight loss and diarrhoea. British Medical Journal 2009, 338, b1721.
• Dipper CR, Maitra S, Thomas R, Lamb CA, McLean-Tooke APC, Ward R, Smith D, Spickett G, Mansfield JC. Anti-tissue transglutaminase antibodies in the follow-up of adult coeliac disease. Alimentary Pharmacology and Therapeutics 2009, 30(3), 236-244.
• Cuzick J, Otto F, Baron JA, Brown PH, Burn J, Greenwald P, Jankowski J, La Vecchia C, Meyskens F, Senn HJ, Thun M. Aspirin and non-steroidal anti-inflammatory drugs for cancer prevention: an international consensus statement. Lancet Oncology 2009, 10(5), 501-507.
• Burn J, Gerdes AM, Mathers J, Mecklin JP, Macrae F, Moeslein G, Bisgaard ML, Ramesar R, Eccles D, Maher ER, Evans G, Morrison P, Bishop DT. Aspirin prevents cancer in Lynch syndrome. In: Journal of Medical Genetics: British Human Genetics Conference. 2009, University of Warwick, UK: BMJ Group.
• Burn J, Gerdes AM, Mecklin JP, Macrae F, Moeslein G, Bisgaard ML, Ramesar R, Eccles DT, Mathers JC, Bishop DT. Aspirin prevents cancer in Lynch syndrome. In: European Journal of Cancer Supplements: 15th Congress of the European Cancer Organization. 2009, Berlin, Germany: Pergamon.
• Igreja S, Chahal HS, Akker SA, Gueorguiev M, Popovic V, Damjanovic S, Burman P, Wass JA, Quinton R, Grossman AB, Korbonits M. Assessment of p27 (cyclin-dependent kinase inhibitor 1B) and aryl hydrocarbon receptor-interacting protein (AIP) genes in multiple endocrine neoplasia (MEN1) syndrome patients without any detectable MEN1 gene mutations. Clinical Endocrinology 2009, 70(2), 259-264.
• Domínguez-Garrido E, Martínez-Redondo D, Martín-Ruiz C, Gómez-Durán A, Ruiz-Pesini E, Madero P, Tamparillas M, Montoya J, von Zglinicki T, Díez-Sánchez C, López-Pérez M. Association of mitochondrial haplogroup J and mtDNA oxidative damage in two different North Spain elderly populations. Biogerontology 2009, 10(4), 435-442.
• Potter C, Hyrich KL, Tracey A, Lunt M, Plant D, Symmons DPM, Thomson W, Worthington J, Emery P, Morgan AW, Wilson AG, Isaacs J, Barton A, BRAGGSS. Association of rheumatoid factor and anti-cyclic citrullinated peptide positivity, but not carriage of shared epitope or PTPN22 susceptibility variants, with anti-tumour necrosis factor response in rheumatoid arthritis. Annals of the Rheumatic Diseases 2009, 68(1), 69-74.
• Chiu YH, Hornsey MA, Klinge L, Jorgensen LH, Laval SH, Charlton R, Barresi R, Straub V, Lochmuller H, Bushby K. Attenuated muscle regeneration is a key factor in dysferlin-deficient muscular dystrophy. Human Molecular Genetics 2009, 18(11), 1976-1989.
• Pearce SHS, ed. Autoimmune Endocrine Disorders. Philadelphia: Saunders, 2009.
• Hildreth V, Anderson RH, Henderson DJ. Autonomic Innervation of the Developing Heart: Origins and Function. Clinical Anatomy 2009, 22(1), 36-46.
• Fratter C, Gorman G, Stewart JD, Buddles M, Smith C, Evans J, Seller A, Poulton J, Roberts M, Hanna MG, Rahman S, Omer SE, Klopstock T, Schoser B, Kornblum C, Lecky B, Chinnery PF, Turnbull DM, Horvath R, Taylor RW. Autosomal dominant Progressive External Ophthalmoplegia (adPEO) due to mutations in the PEO1 gene: A clinical, histochemical and molecular survey of 33 patients. Neuromuscular Disorders 2009, 19(8-9), 562-562.
• Senderek J, Garvey SM, Krieger M, Guergueltcheva V, Urtizberea A, Roos A, Elbracht M, Stendel C, Tournev I, Mihailova V, Feit H, Tramonte J, Hedera P, Crooks K, Bergmann C, Rudnik-Schöneborn S, Zerres K, Lochmüller H, Seboun E, Weis J, Beckmann JS, Hauser MA, Jackson CE. Autosomal-dominant distal myopathy associated with a recurrent missense mutation in the gene encoding the nuclear matrix protein, matrin 3. American Journal of Human Genetics 2009, 84(4), 511-518.
• Lako M, Daher S. Balancing Work and Life: A Conversation with Barbara Knowles. Stem Cells 2009, 27(5), 989-990.
• Lako M, Daher S. Balancing Work and Life: A Conversation with Fiona Watt. Stem Cells 2009, 27(4), 762-763.
• Lako M, Daher S. Balancing Work and Life: A Conversation with George Daley. Stem Cells 2009, 27(7), 1469-1470.
• Lako M, Daher S. Balancing Work and Life: A Conversation with Konrad Hochedlinger. Stem Cells 2009, 27(5), 991-992.
• Lako M, Daher S. Balancing Work and Life: A Conversation with Lesley Forrester. Stem Cells 2009, 27(8), 1707-1708.
• Lako M, Daher S. Balancing Work and Life: A Conversation with Marella de Bruijn. Stem Cells 2009, 27(7), 1471-1472.
• Lako M, Daher S. Balancing Work and Life: A Conversation with Margaret "Peggy" Goodell. Stem Cells 2009, 27(6), 1227-1228.
• Lako M, Daher S. Balancing Work and Life: A Conversation with Mina Bissell. Stem Cells 2009, 27(8), 1709-1711.
• Lako M, Daher S. Balancing Work and Life: A Conversation with Sean Morrison. Stem Cells 2009, 27(6), 1229-1230.
• Lako M, Daher S. Balancing Work and Life: An Interview with Connie Eaves. Stem Cells 2009, 27(9), 2056-2058.
• Lako M, Daher S. Balancing Work and Life: An Interview with Kathleen Sakamoto. Stem Cells 2009, 27(9), 2053-2055.
• Lako M, Daher S. Balancing Work and Life: Finding Our Inspirations. Stem Cells 2009, 27(4), 761-761.
• Venables JP, Klinck R, Koh C, Gervais-Bird J, Bramard A, Inkel L, Durand M, Couture S, Froehlich U, Lapointe E, Lucier JF, Thibault P, Rancourt C, Tremblay K, Prinos P, Chabot B, Elela SA. Cancer-associated regulation of alternative splicing. Nature Structural and Molecular Biology 2009, 16(6), 670-676.
• Dronamraju SS, Coxhead JM, Kelly SB, Burn J, Mathers JC. Cell kinetics and gene expression changes in colorectal cancer patients given resistant starch: a randomised controlled trial. Gut 2009, 58(3), 413-420.
• Charlton R, Henderson M, Richards J, Hicks D, Reza M, Straub V, Lochmuller H, Bushby K, Barresi R. Chain-specific antibody testing of collagen VI: An additional pre-screening strategy for the diagnosis of Bethlem myopathy. In: Neuromuscular Disorders: 14th International Congress of the World Muscle Society. 2009, Geneva, Switzerland: Elsevier Ltd.
• Brabec P, Vondráček P, Klimeš D, Baumeister S, Lochmüller H, Pavlík T, Gregor J. Characterization of the DMD/BMD patient population in Czech Republic and Slovakia using an innovative registry approach. Neuromuscular Disorders 2009, 19(4), 250-254.
• Sibal L, Aldibbiat A, Agarwal SC, Mitchell G, Oates C, Razvi S, Weaver JU, Shaw JA, Home PD. Circulating endothelial progenitor cells, endothelial function, carotid intima-media thickness and circulating markers of endothelial dysfunction in people with type 1 diabetes without macrovascular disease or microalbuminuria. Diabetologia 2009, 52(8), 1464-1473.
• Devos D, Tchofo PJ, Vuillaume I, Destée A, Batey S, Burn J, Chinnery PF. Clinical features and natural history of neuroferritinopathy caused by the 458dupA FTL mutation. Brain 2009, 132(6), e109.
• Day CP, Stewart JD, Horvath R, Fontana RJ, Watkins PB, Bulst S, Baruffini E, Ferrero I, Chinnery PF. Common POLG Genetic Variants Increase the Risk of Sodium Valproate Induced Liver Injury and Failure. In: Hepatology: 60th Annual Meeting of the American Association for the Study of Liver Diseases. 2009, Boston, Massachusetts, USA: John Wiley & Sons, Inc.
• Narayan SK, Chinnery PF, Ford GA, Kalaria RN. Comprehensive North-East England CADASIL registry: disease burden and community impact. In: European Journal of Neurology: 13th Congress of the European Federation of Neurological Societies. 2009, Florence, Italy: Wiley-Blackwell Publishing Ltd.
• Andrews PW, Arias-Diaz J, Auerbach J, Alvarez M, Ahrlund-Richter L, Baker D, Benvenisty N, Ben-Josef D, Blin G, Borghese L, Borstlap J, Bruce K, Brustle O, Buckle R, Camby C, Choo A, Chen W, Collins D, Colman A, Crombie C, Crook J, Cypess R, De Sousa P, Dhawan J, Douay L, Dvorak P, Dyke T, Eriksson L, Firpo M, Fitzgerald C, Glover C, Gokhale P, Greene M, Ha HY, Hampl A, Healy L, Hei D, Holm F, Hovatta O, Hunt C, Hwang SM, Inamdar M, Isasi R, Itskovitz-Eldor J, Jessie N, Kim DW, Kirzner R, Kiatpongsan S, Knowles B, Kuo HC, Laughlin M, Lavon N, Ludwig T, Lakov M, Lee DR, Macauley J, Mckay R, Menasche P, Menendez P, Michalska A, Mileikovskaia M, Minger S, Mishra G, Moody J, Montgomery K, Morris C, Mummery C, Nagy A, Nakamura Y, Nakatsuji N, Nishikawa SI, Oh S, Oh SK, Olson P, Otonkoski T, Patole M, Park HS, Pei XT, Pera M, Puceat M, Rajala K, Reubinoff B, Robins A, Rooke H, Rumayor V, Scotman H, Sherlock J, Simon C, Sipp D, Skinner R, Smith D, Stacey G, Stefanovic S, Strehl R, Taft R, Takahashi T, Talib S, Terstegge S, Turner R, Tuuri T, Yu J, Zandstra P, Zapata A, Zeng FY, Zhou Q, Tannenbaum S, Int Stem Cell Banking Initiative. Consensus Guidance for Banking and Supply of Human Embryonic Stem Cell Lines for Research Purposes. Stem Cell Reviews and Reports 2009, 5(4), 301-314.
• Bauer R, Straub V, Blain A, Bushby K, MacGowan GA. Contrasting effects of steroids and angiotensin-converting-enzyme inhibitors in a mouse model of dystrophin-deficient cardiomyopathy. European Journal of Heart Failure 2009, 11(5), 463-471.
• Hicks D, Lampe AK, Laval SH, Allamand V, Jimenez-Mallebrera C, Walter MC, Muntoni F, Quijano-Roy S, Richard P, Straub V, Lochmuller H, Bushby KMD. Cyclosporine A treatment for Ullrich congenital muscular dystrophy: a cellular study of mitochondrial dysfunction and its rescue. Brain 2009, 132(1), 147-155.
• Goizet C, Boukhris A, Durr A, Beetz C, Truchetto J, Tesson C, Tsaousidou M, Forlani S, Guyant-Marechal L, Fontaine B, Guimaraes J, Isidor B, Chazouilleres O, Wendum D, Grid D, Chevy F, Chinnery PF, Coutinho P, Azulay JP, Feki I, Mochel F, Wolf C, Mhiri C, Crosby A, Brice A, Stevanin G. CYP7B1 mutations in pure and complex forms of hereditary spastic paraplegia type 5. Brain 2009, 132, 1589-1600.
• Hiscutt E, Rajan N, Panter S, Natarajan S. Demonstration of gastrointestinal venous malformations in Blue Rubber Bleb Naevus Syndrome using capsule endoscopy. Journal of the European Academy of Dermatology and Venereology 2009, 23(3), 322-324.
• Cordell HJ. Detecting gene-gene interactions that underlie human diseases. Nature Reviews Genetics 2009, 10(6), 392-404.
• Samuels DC, Burn DJ, Chinnery PF. Detecting new neurodegenerative disease genes: does phenotype accuracy limit the horizon?. Trends in Genetics 2009, 25(11), 486-488.
• Eley L, Simms RJ, Miles CG, Sayer JA. Development of a Novel Murine Model of Nephronophthisis. Pediatric Nephrology 2009, 24(9), 1802-1803.
• Owen CJ, Cheetham TD. Diagnosis and Management of Polyendocrinopathy Syndromes. Endocrinology & Metabolism Clinics of North America 2009, 38(2), 419-436.
• Bushby K. Diagnosis and management of the limb girdle muscular dystrophies. Practical Neurology 2009, 9(6), 314-323.
• Griffin H, Eden J, Burn J, Curtis A. Diagnostic analysis of Norwegian BRCA mutations using Sequenom MALDI TOF mass spectrometry. In: Journal of Medical Genetics: British Human Genetics Conference. 2009, University of Warwick, UK: BMJ Group.
• Bennaceur K, Popa I, Chapman JA, Migdal C, Péguet-Navarro J, Touraine JL, Portoukalian J. Different mechanisms are involved in apoptosis induced by melanoma gangliosides on human monocyte-derived dendritic cells. Glycobiology 2009, 19(6), 576-582.
• Wang J, Qin R, Ma Y, Wu HY, Peters H, Tyska M, Shaheen NJ, Chen XX. Differential gene expression in normal esophagus and Barrett's esophagus. Journal of Gastroenterology 2009, 44(9), 897-911.
• Ellingson BM, Schmit BD, Gourab K, Sieber-Blum M, Hu YF, Schmainda KM. Diffusion heterogeneity tensor MRI (a-Dti): mathematics and initial applications in spinal cord regeneration after trauma. Biomedical Sciences Instrumentation 2009, 45, 167-172.
• Owen CJ, Habeb A, Pearce SH, Wright M, Ichikawa S, Sorenson AH, Econs MJ, Cheetham TD. Discordance for X-Linked Hypophosphataemic Rickets in Identical Twin Girls. Hormone Research 2009, 71(4), 237-244.
• Montoya J, López-Gallardo E, Herrero-Martín MD, Martínez-Romero I, Gómez-Durán A, Pacheu D, Carreras M, López-Pérez MJ, Ruiz-Pesini E. Diseases of human mitochondrial oxidative phosphorylation system in inherited neuromuscular diseases, translation from pathomecanism to therapies. In: Espinós, C., Felipo, V., Palau, F, ed. Inherited Neuromuscular Diseases: Translation from Pathomechanisms to Therapies. Dordecht: Springer Netherlands, 2009, pp.47-67.
• Cheetham T, Ball S. Disorders of water metabolism. In: Sarafoglou, K, ed. Paediatric Endocrinology and inborn errors of metabolism. New York: McGraw Hill, 2009, pp.679-692.
• Bauer R, Hudson J, Müller HD, Sommer C, Dekomien G, Bourke J, Routledge D, Bushby K, Klepper J, Straub V. Does delta-sarcoglycan-associated autosomal-dominant cardiomyopathy exist?. European Journal of Human Genetics 2009, 17(9), 1148-1153.
• Seeger FH, Chen L, Spyridopoulos I, Altschmied J, Aicher A, Haendeler J. Downregulation of ETS rescues diabetes-induced reduction of endothelial progenitor cells. PLoS ONE 2009, 4(2), e4529.
• Bradshaw L, Chaudhry B, Hildreth V, Webb S, Henderson DJ. Dual role for neural crest cells during outflow tract septation in the neural crest-deficient mutant Splotch(2H). Journal of Anatomy 2009, 214(2), 245-257.
• Richardson GD, Fantauzzo KA, Bazzi H, Määttä A, Jahoda CA. Dynamic expression of Syndecan-1 during hair follicle morphogenesis. Gene Expression Patterns 2009, 9(6), 454-460.
• Bishop DT, Burn J, Mathers JC. Effect of Aspirin or Resistant Starch on Colorectal Neoplasia in the Lynch Syndrome THE AUTHORS REPLY. New England Journal of Medicine 2009, 360(14), 1462-1463.
• Jorgensen LH, Larochelle N, Orlopp K, Dunant P, Dudley RWR, Stucka R, Thirion C, Walter MC, Laval SH, Lochmuller H. Efficient and Fast Functional Screening of Microdystrophin Constructs In Vivo and In Vitro for Therapy of Duchenne Muscular Dystrophy. Human Gene and Cell Therapy 2009, 20(6), 641-650.
• Collins J, Hicks D, Sarkozy A, Lampe A, Norwood F, Straub V, Lochmüller H, Bushby K. EM.P.4.05 Bethlem myopathy; new insights on prevalence, phenotypic variability and genetic heterogeneity. In: World Muscle Society Annual Congress. 2009, Geneva, Switzerland.
• Mahmoud M, Borthwick GM, Hislop A, Arthur HM. Endoglin and activin receptor-like-kinase 1 are co-expressed in the distal vessels of the lung: implications for two familial vascular dysplasias, HHT and PAH. Laboratory Investigation 2009, 89(1), 15-25.
• Baumeister S, Todorovic S, Walter MC, Dekomien G, Lochmüller H. Eosinophilic myositis as presenting symptom in gamma-sarcoglycanopathy. Neuromuscular Disorders 2009, 19(2), 167-171.
• Wilkes S, Chinn DJ, Murdoch A, Rubin G. Epidemiology and management of infertility: a population-based study in UK primary care. Family Practice 2009, 26(4), 269-274.
• Golebiewska A, Atkinson SP, Lako M, Armstrong L. Epigenetic Landscaping During hESC Differentiation to Neural Cells. Stem Cells 2009, 27(6), 1298-1308.
• Zhang ZJ, Sieber-Blum M. Essential role of stem cell factor signaling in primary sensory neuron development. Developmental Neuroscience 2009, 31(3), 202-211.
• Nicol MR, Papacleovoulou G, Evans DB, Penning TM, Strachan MWJ, Advani A, Johnson SJ, Quinton R, Mason JI. Estrogen biosynthesis in human H295 adrenocortical carcinoma cells. Molecular and Cellular Endocrinology 2009, 300(1-2), 115-120.
• Higgins CA, Richardson GD, Westgate GE, Jahoda CA. Exogen involves gradual release of the hair club fibre in the vibrissa follicle model. Experimental Dermatology 2009, 18(9), 793-795.
• Alatzoglou KS, Turton JP, Kelberman D, Clayton PE, Mehta A, Buchanan C, Aylwin S, Crowne EC, Christesen HT, Hertel NT, Trainer PJ, Savage MO, Raza J, Banerjee K, Sinha SK, Ten S, Mushtaq T, Brauner R, Cheetham TD, Hindmarsh PC, Mullis PE, Dattani MT. Expanding the Spectrum of Mutations in GH1 and GHRHR: Genetic Screening in a Large Cohort of Patients with Congenital Isolated Growth Hormone Deficiency. Journal of Clinical Endocrinology and Metabolism 2009, 94(9), 3191-3199.
• Neganova I, Zhang X, Atkinson S, Lako M. Expression and functional analysis of G1 to S regulatory components reveals an important role for CDK2 in cell cycle regulation in human embryonic stem cells. Oncogene 2009, 28(1), 20-30.
• Lamb CA, Mohiuddin MK, Gicquel J, Neely D, Bergin FG, Hanson JM, Mansfield JC. Faecal calprotectin or lactoferrin can identify postoperative recurrence in Crohn's disease. British Journal of Surgery 2009, 96(6), 663-674.
• Alvarez-Madrazo S, Padmanabhan S, Mayosi BM, Watkins H, Avery P, Wallace AM, Fraser R, Davies E, Keavney B, Connell JM. Familial and Phenotypic Associations of the Aldosterone Renin Ratio. Journal of Clinical Endocrinology & Metabolism 2009, 94(11), 4324-4333.
• Rajan N, Trainer A, Burn J, Langtry J. Familial cylindromatosis and brooke-spiegler syndrome: A review of current therapeutic approaches and the surgical challenges posed by two affected families. Dermatologic Surgery 2009, 35(5), 845-852.
• Lehmann R, Fichtlscherer S, Schachinger V, Held L, Hobler C, Baier G, Zeiher AM, Spyridopoulos I. Favorable Long-Term Survival in Patients Undergoing Multivessel-PCI Compared to Predicted Prognosis of CABG Estimated by EuroSCORE: Procedural and Clinical Determinants of Long-Term Outcome. Journal of Interventional Cardiology 2009, 22(6), 511-519.
• Bertagnolli MM, Eagle CJ, Zauber AG, Redston M, Breazna A, Kim K, Tang J, Rosenstein RB, Umar A, Bagheri D, Collins NT, Burn J, Chung DC, Dewar T, Foley TR, Hoffman N, Macrae F, Pruitt RE, Saltzman JR, Salzberg B, Sylwestrowicz T, Hawk ET, Adenoma Prevention Celecoxib Study. Five-Year Efficacy and Safety Analysis of the Adenoma Prevention with Celecoxib Trial. Cancer Prevention Research 2009, 2(4), 310-321.
• Tubbs JL, Latypov V, Kanugula S, Butt A, Melikishvili M, Kraehenbuehl R, Fleck O, Marriott A, Watson AJ, Verbeek B, McGown G, Thorncroft M, Santibanez-Koref MF, Millington C, Arvai AS, Kroeger MD, Peterson LA, Williams DM, Fried MG, Margison GP, Pegg AE, Tainer JA. Flipping of alkylated DNA damage bridges base and nucleotide excision repair. Nature 2009, 459(7248), 808-813.
• Lako M, Neganova I, Armstrong L. G(1) to S transition and pluripotency Two sides of the same coin?. Cell Cycle 2009, 8(8), 1108-1109.
• Kirkman MA, Yu Wai Man P, Korsten A, Leonhardt M, Dimitriadis K, De Coo IF, Klopstock T, Chinnery PF. Gene-environment interactions in Leber hereditary optic neuropathy. Brain 2009, 132(9), 2317-2326.
• Mellough CB, Steel DHW, Lako M. Genetic basis of inherited macular dystrophies and implications for stem cell therapy. Stem Cells 2009, 27(11), 2833-2845.
• Anand SS, Xie C, Pare G, Montpetit A, Rangarajan S, McQueen MJ, Cordell HJ, Keavney B, Yusuf S, Hudson TJ, Engert JC, INTERHEART Investigators. Genetic variants associated with myocardial infarction risk factors in over 8000 individuals from five ethnic groups: The INTERHEART Genetics Study. Circulation Cardiovascular Genetics 2009, 2(1), 16-25.
• Hudson G, Yu Wai Man P, Zeviani M, Chinnery PF. Genetic variation in the methylenetetrahydrofolate reductase gene, MTHFR, does not alter the risk of visual failure in Leber's hereditary optic neuropathy. Molecular Vision 2009, 15, 870-875.
• Griffin HR, Hall DH, Topf A, Eden J, Stuart AG, Parsons J, Peart I, Deanfield JE, O'Sullivan J, Babu-Narayan SV, Gatzoulis MA, Bu'lock FA, Bhattacharya S, Bentham J, Farrall M, Riveron JG, Brook JD, Burn J, Cordell HJ, Goodship JA, Keavney B. Genetic variation in VEGF does not contribute significantly to the risk of congenital cardiovascular malformation. PLoS ONE 2009, 4(3), e4978.
• Fuhrmann N, Alavi MV, Bitoun P, Woernle S, Auburger G, Leo-Kottler B, Yu Wai Man P, Chinnery PF, Wissinger B. Genomic rearrangements in OPA1 are frequent in patients with autosomal dominant optic atrophy. Journal of Medical Genetics 2009, 46(2), 136-144.
• MacGowan GA. Good news for mice with heart attacks: preventing acute myocardial injury by inhibiting apoptosis. Cardiovascular Research 2009, 81, 1-2.
• Horvath R, Bender A, Abicht A, Holinski-Feder E, Czermin B, Trips T, Schneiderat P, Lochmuller H, Klopstock T. Heteroplasmic mutation in the anticodon-stem of mitochondrial tRNA(Val) causing MNGIE-like gastrointestinal dysmotility and cachexia. Journal of Neurology 2009, 256(5), 810-815.
• Grindedal EM, Blanco I, Stormorken A, Maehle L, Clark N, Gonzalez S, Capella G, Vasen H, Burn J, Moller P. High risk of endometrial cancer in colorectal cancer kindred is pathognomonic for MMR-mutation carriers. Familial Cancer 2009, 8(2), 145-151.
• Gerrelli D, Lisgo S, Copp A, Lindsay S. Human Developmental Biology Resource (HDBR): A unique resource for studying human embryo and fetal development. In: Mechanisms of Development: 16th Annual Conference of the International Society of Development Biologists. 2009, Edinburgh, Scotland: Elsevier.
• Gerrelli D, Lisgo S, Copp A, Lindsay S. Human Developmental Biology Resource (HDBR): A unique resource for studying human embryo and fetal development. In: Mechanisms of Development: 16th International Society of Developmental Biologists Congress. 2009, Edinburgh, UK: Elsevier Ireland Ltd.
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