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Anthony Marinaki

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TOP 3
M Smith; S Anderson; Monica Arenas; P Blaker; Emilia Escuredo; P Irving; Anthony M Marinaki; C Patel; Jeremy Sanderson
The impact of introducing thioguanine nucleotide monitoring into an inflammatory bowel disease clinic.
Melissa A Smith; Simon H Anderson; Paul Blaker; Peter M Irving; Anthony M Marinaki; Jeremy D Sanderson
Optimising outcome on thiopurines in inflammatory bowel disease by co-prescription of allopurinol.
Blanka Stiburkova; Judy Taylor; Anthony M Marinaki; Ivan Sebesta
Acute kidney injury in two children caused by renal hypouricaemia type 2.

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All Publications

2013: M Smith; S Anderson; Monica Arenas; P Blaker; Emilia Escuredo; P Irving; Anthony M Marinaki; C Patel; Jeremy Sanderson
The impact of introducing thioguanine nucleotide monitoring into an inflammatory bowel disease clinic.
International journal of clinical practice 2013;67(2):161-9.
2012: Melissa A Smith; Simon H Anderson; Paul Blaker; Peter M Irving; Anthony M Marinaki; Jeremy D Sanderson
Optimising outcome on thiopurines in inflammatory bowel disease by co-prescription of allopurinol.
Journal of Crohn's & colitis 2012;6(9):905-12.
2012: Blanka Stiburkova; Judy Taylor; Anthony M Marinaki; Ivan Sebesta
Acute kidney injury in two children caused by renal hypouricaemia type 2.
Pediatric nephrology (Berlin, Germany) 2012;27(8):1411-5.
2011: A Corrigan; Emilia Escuredo; Lynette Fairbanks; Monica Arenas; Anthony M Marinaki
HPRT deficiency: identification of twenty-four novel variants including an unusual deep intronic mutation.
Nucleosides, nucleotides & nucleic acids 2011;30(12):1260-5.
2011: P L C Walker; Monica Arenas; Adele Corrigan; Emilia Escuredo; Lynette Fairbanks; Anthony M Marinaki
Purine nucleoside phosphorylase deficiency: a mutation update.
Nucleosides, nucleotides & nucleic acids 2011;30(12):1243-7.
2011: Ivan Sebesta; Blanka Stiburkova; Judy Taylor; Josef Bartl; Makoto Hosoyamada; Kimiyoshi Ichida; Anthony M Marinaki
Diagnostic tests for primary renal hypouricemia.
Nucleosides, nucleotides & nucleic acids 2011;30(12):1112-6.
2010: Claire T Lundy; Heinz Jungbluth; Keith R E Pohl; Ata Siddiqui; Anthony M Marinaki; Helen Mundy; Michael P Champion
Adenylosuccinate lyase deficiency in the United Kingdom pediatric population: first three cases.
Pediatric neurology 2010;43(5):351-4.
2010: R L Roberts; M Zhang; Anthony M Marinaki; L K Stamp
Does genetic variability in aldehyde oxidase and molybdenum cofactor sulfurase predict nonresponse to allopurinol?
Alimentary pharmacology & therapeutics 2010;32(2):310-1.
2010: Melissa A Smith; Anthony M Marinaki; Jeremy D Sanderson
Pharmacogenomics in the treatment of inflammatory bowel disease.
Pharmacogenomics 2010;11(3):421-37.
2010: Monica Arenas Hernandez; Reiner Schulz; Tracy Chaplin; Bryan D Young; David Perrett; Michael P Champion; Jan-Willem Taanman; Anthony Fensom; Anthony M Marinaki
The diagnosis of inherited metabolic diseases by microarray gene expression profiling.
Orphanet journal of rare diseases 2010;5():34.
2010: Aathavan Loganayagam; Monica Arenas-Hernandez; Lynette Fairbanks; Paul Ross; Jeremy D Sanderson; Anthony M Marinaki
The contribution of deleterious DPYD gene sequence variants to fluoropyrimidine toxicity in British cancer patients.
Cancer chemotherapy and pharmacology 2010;65(2):403-6.
2009: M A Smith; Anthony M Marinaki; M Arenas; M Shobowale-Bakre; C M Lewis; Azhar Ansari; J Duley; J D Sanderson
Novel pharmacogenetic markers for treatment outcome in azathioprine-treated inflammatory bowel disease.
Alimentary pharmacology & therapeutics 2009;30(4):375-84.
2009: M Arenas; Lynette D Fairbanks; K Vijayakumar; L Carr; Emilia Escuredo; Anthony M Marinaki
An unusual genetic variant in the MOCS1 gene leads to complete missplicing of an alternatively spliced exon in a patient with molybdenum cofactor deficiency.
Journal of inherited metabolic disease 2009;32(4):560-9.
2008: Azhar Ansari; Monica Arenas; Simon M Greenfield; D Morris; J Lindsay; K Gilshenan; M Smith; C Lewis; Anthony M Marinaki; John A Duley; Jeremy Sanderson
Prospective evaluation of the pharmacogenetics of azathioprine in the treatment of inflammatory bowel disease.
Alimentary pharmacology & therapeutics 2008;28(8):973-83.
2008: Azhar Ansari; Tim Elliott; Farina Fong; Monica Arenas-Hernandez; Giles Rottenberg; Bernard Portmann; Sebastian Lucas; Anthony M Marinaki; Jeremy Sanderson
Further experience with the use of 6-thioguanine in patients with Crohn's disease.
Inflammatory bowel diseases 2008;14(10):1399-405.
2008: Azhar Ansari; Z Aslam; A De Sica; M Smith; K Gilshenan; Lynette Fairbanks; Anthony M Marinaki; Jeremy Sanderson; John A Duley
Influence of xanthine oxidase on thiopurine metabolism in Crohn's disease.
Alimentary pharmacology & therapeutics 2008;28(6):749-57.
2008: A P Morley; C H Papageorgiou; Anthony M Marinaki; D J Cooper; C M Lewis
The effect of pre-operative anxiety on induction of anaesthesia with propofol.
Anaesthesia 2008;63(5):467-73.
2008: Rebecca L Roberts; Richard B Gearry; Michael V Bland; Christiaan W Sies; Peter M George; Michael Burt; Anthony M Marinaki; Monica Arenas; Murray L Barclay; Martin A Kennedy
Trinucleotide repeat variants in the promoter of the thiopurine S-methyltransferase gene of patients exhibiting ultra-high enzyme activity.
Pharmacogenetics and genomics 2008;18(5):434-8.
2007: Arian Dominic John laurence; Stephen M Edbury; Anthony M Marinaki; Ryszard T Smolenski; David Goldsmith; H Anne Simmonds; Elizabeth A Carrey
4-pyridone-3-carboxamide ribonucleoside triphosphate accumulating in erythrocytes in end stage renal failure originates from tryptophan metabolism.
Clinical and experimental medicine 2007;7(4):135-41.
2007: Emanuela Campalani; Monica Arenas; Anthony M Marinaki; Cathryn M Lewis; J N W N Barker; Catherine H Smith
Polymorphisms in folate, pyrimidine, and purine metabolism are associated with efficacy and toxicity of methotrexate in psoriasis.
The Journal of investigative dermatology 2007;127(8):1860-7.
2007: J W Winter; D Gaffney; D Shapiro; RJ Spooner; Anthony M Marinaki; Jeremy D Sanderson; Peter R Mills
Assessment of thiopurine methyltransferase enzyme activity is superior to genotype in predicting myelosuppression following azathioprine therapy in patients with inflammatory bowel disease.
Alimentary pharmacology & therapeutics 2007;25(9):1069-77.
2007: Ashis Sau; S Clarke; J Bass; A Kaiser; Anthony M Marinaki; C Nelson-Piercy
Azathioprine and breastfeeding: is it safe?
BJOG : an international journal of obstetrics and gynaecology 2007;114(4):498-501.
2007: Sharon J Gardiner; Evan J Begg; Ashis Sau; Anthony M Marinaki; Richard B Gearry; Murray L Barclay
Thiopurine treatment in inflammatory bowel disease.
Clinical pharmacokinetics 2007;46(9):803-4; author reply 805.
2007: Monica Arenas; John A Duley; Satoshi Sumi; Jeremy Sanderson; Anthony M Marinaki
The ITPA c.94C>A and g.IVS2+21A>C sequence variants contribute to missplicing of the ITPA gene.
Biochimica et biophysica acta 2007;1772(1):96-102.
2006: Ewa M Slominska; Elizabeth A Carrey; Henryk Foks; Czeslawa Orlewska; Ewa Wieczerzak; Pawel Sowinski; Magdi H Yacoub; Anthony M Marinaki; H Anne Simmonds; Ryszard T Smolenski
A novel nucleotide found in human erythrocytes, 4-pyridone-3-carboxamide-1-beta-D-ribonucleoside triphosphate.
The Journal of biological chemistry 2006;281(43):32057-64.
2006: Mary Anne Chiong; Anthony M Marinaki; John A Duley; Bruce Bennetts; R Ouvrier; John Christodoulou
Lesch-Nyhan disease in a 20-year- old man incorrectly described as developing 'cerebral palsy' after general anaesthesia in infancy.
Journal of inherited metabolic disease 2006;29(4):594.
2006: John A Duley; Anthony M Marinaki; Monica Arenas; T H J Florin
Do ITPA and TPMT genotypes predict the development of side effects to AZA?
Gut 2006;55(7):1048; author reply 1048-9.
2005: Monica Arenas; Gemma Simpson; Cathryn M Lewis; El-Monsor Shobowale-Bakre; Emilia Escuredo; Lynette D Fairbanks; John A Duley; Azhar Ansari; Jeremy D Sanderson; Anthony M Marinaki
Genetic variation in the MTHFR gene influences thiopurine methyltransferase activity.
Clinical chemistry 2005;51(12):2371-4.
2005: Katerina Hodanová; Jacek Majewski; Martina Kublová; Petr Vyletal; Marie Kalbácová; Blanka Stibůrková; Helena Hůlková; Yvon C Chagnon; Christian-Marc Lanouette; Anthony M Marinaki; Jean-Pierre Fryns; Gopalakrishnan Venkat-Raman; Stanislav Kmoch
Mapping of a new candidate locus for uromodulin-associated kidney disease (UAKD) to chromosome 1q41.
Kidney international 2005;68(4):1472-82.
2005: Monika Löffler; Lynette D Fairbanks; Elke Zameitat; Anthony M Marinaki; H Anne Simmonds
Pyrimidine pathways in health and disease.
Trends in molecular medicine 2005;11(9):430-7.
2005: Tohru Maeda; Satoshi Sumi; Akihito Ueta; Yumiko Ohkubo; Tetsuya Ito; Anthony M Marinaki; Yukihisa Kurono; Shinsaku Hasegawa; Hajime Togari
Genetic basis of inosine triphosphate pyrophosphohydrolase deficiency in the Japanese population.
Molecular genetics and metabolism 2005;85(4):271-9.
2005: T I Kassimatis; H Anne Simmonds; Pavlos C Goudas; Anthony M Marinaki; Lynette D Fairbanks; Athanasios A Diamandopoulos
HPRT deficiency as the cause of ESRD in a 24-year-old patient: a very rare presentation of the disorder.
Journal of nephrology 2005;18(4):447-51.
2005: David P Breen; Anthony M Marinaki; Monica Arenas; Peter C Hayes
Pharmacogenetic association with adverse drug reactions to azathioprine immunosuppressive therapy following liver transplantation.
Liver transplantation : official publication of the American Association for the Study of Liver Diseases and the International Liver Transplantation Society 2005;11(7):826-33.
2004: David Goldsmith; Elizabeth A Carrey; Stephen M Edbury; Anthony M Marinaki; H Anne Simmonds
GTP concentrations are elevated in erythrocytes of renal transplant recipients when conventional immunosuppression is replaced by the inosine monophosphate dehydrogenase inhibitor mycophenolic acid mofetil (MMF).
Nucleosides, nucleotides & nucleic acids 2004;23(8-9):1407-9.
2004: Monica Arenas; John A Duley; Azhar Ansari; El-Monsor Shobowale-Bakre; Lynette Fairbanks; S Y Soon; Jeremy Sanderson; Anthony M Marinaki
Genetic determinants of the pre- and post-azathioprine therapy thiopurine methyltransferase activity phenotype.
Nucleosides, nucleotides & nucleic acids 2004;23(8-9):1403-5.
2004: Anthony M Marinaki; Satoshi Sumi; Monica Arenas; Lynette Fairbanks; S Harihara; K Shimizu; Akihito Ueta; John A Duley
Allele frequency of inosine triphosphate pyrophosphatase gene polymorphisms in a Japanese population.
Nucleosides, nucleotides & nucleic acids 2004;23(8-9):1399-401.
2004: Anthony M Marinaki; John A Duley; Monica Arenas; Azhar Ansari; Satoshi Sumi; Cathryn M Lewis; Monsor Shobowale-Bakre; Lynette D Fairbanks; Jeremy Sanderson
Mutation in the ITPA gene predicts intolerance to azathioprine.
Nucleosides, nucleotides & nucleic acids 2004;23(8-9):1393-7.
2004: Emilia Escuredo; Anthony M Marinaki; John A Duley; Swee Lay Thein; D C Rees
The genetic basis of the interaction between pyrimidine 5' nucleotidase I deficiency and hemoglobin E.
Nucleosides, nucleotides & nucleic acids 2004;23(8-9):1261-3.
2004: Anthony M Marinaki; Mike P Champion; M A Kurian; H Anne Simmonds; Sandrine Marie; Marie-Françoise Vincent; Georges Van den Berghe; John A Duley; Lynette D Fairbanks
Adenylosuccinate lyase deficiency--first British case.
Nucleosides, nucleotides & nucleic acids 2004;23(8-9):1231-3.
2004: Elizabeth A Carrey; Ryszard T Smolenski; Stephen M Edbury; Arian Dominic John laurence; Anthony M Marinaki; John A Duley; L M Zhu; David Goldsmith; H Anne Simmonds
An unusual pyridine nucleotide accumulating in erythrocytes: its identity and positive correlation with degree of renal failure.
Nucleosides, nucleotides & nucleic acids 2004;23(8-9):1135-9.
2004: Anthony M Marinaki; Azhar Ansari; John A Duley; Monica Arenas; Satoshi Sumi; Cathryn M Lewis; El-Monsor Shobowale-Bakre; Emilia Escuredo; Lynette D Fairbanks; Jeremy D Sanderson
Adverse drug reactions to azathioprine therapy are associated with polymorphism in the gene encoding inosine triphosphate pyrophosphatase (ITPase).
Pharmacogenetics 2004;14(3):181-7.
2004: Lynette D Fairbanks; Anthony M Marinaki; H Anne Simmonds; J Stewart Cameron
Familial juvenile hyperuricaemic nephropathy.
QJM : monthly journal of the Association of Physicians 2004;97(2):106-7.
2003: Elizabeth A Carrey; Ryszard T Smolenski; Stephen M Edbury; Arian Dominic John laurence; Anthony M Marinaki; John A Duley; Limin Zhu; David Goldsmith; H Anne Simmonds
Origin and characteristics of an unusual pyridine nucleotide accumulating in erythrocytes: positive correlation with degree of renal failure.
Clinica chimica acta; international journal of clinical chemistry 2003;335(1-2):117-29.
2003: Coralie Bingham; Sian Ellard; William G Van't Hoff; H Anne Simmonds; Anthony M Marinaki; Michael K Badman; Peter H Winocour; Amanda Stride; Christopher R Lockwood; Anthony J Nicholls; Katharine R Owen; Ghislaine Spyer; Ewan R Pearson; Andrew T Hattersley
Atypical familial juvenile hyperuricemic nephropathy associated with a hepatocyte nuclear factor-1beta gene mutation.
Kidney international 2003;63(5):1645-51.
2003: Blanka Stibůrková; Jacek Majewski; Katerina Hodanová; Lenka Ondrová; Markéta Jerábková; Marie Zikánová; Petr Vylet'al; Ivan Sebesta; Anthony M Marinaki; Anne Simmonds; Gert Matthijs; Jean-Pierre Fryns; Rosa Torres; Juan García Puig; Jurg Ott; Stanislav Kmoch
Familial juvenile hyperuricaemic nephropathy (FJHN): linkage analysis in 15 families, physical and transcriptional characterisation of the FJHN critical region on chromosome 16p11.2 and the analysis of seven candidate genes.
European journal of human genetics : EJHG 2003;11(2):145-54.
2003: David C Rees; John A Duley; Anthony M Marinaki
Pyrimidine 5' nucleotidase deficiency.
British journal of haematology 2003;120(3):375-83.
2003: Anthony M Marinaki; Monica Arenas; Zubair H Khan; Cathryn M Lewis; El-Monsor Shobowale-Bakre; Emilia Escuredo; Lynette D Fairbanks; John Mayberry; Antony C Wicks; Azhar Ansari; Jeremy Sanderson; John A Duley
Genetic determinants of the thiopurine methyltransferase intermediate activity phenotype in British Asians and Caucasians.
Pharmacogenetics 2003;13(2):97-105.
2002: Lynette D Fairbanks; Anthony M Marinaki; Elizabeth A Carrey; S R Hammans; John A Duley
Deoxyuridine accumulation in urine in thymidine phosphorylase deficiency (MNGIE).
Journal of inherited metabolic disease 2002;25(7):603-4.
2002: Satoshi Sumi; Anthony M Marinaki; Monica Arenas; Lynette Fairbanks; Monsor Shobowale-Bakre; David C Rees; Swee Lay Thein; Azhar Ansari; Jeremy Sanderson; Ronney A De Abreu; H Anne Simmonds; John A Duley
Genetic basis of inosine triphosphate pyrophosphohydrolase deficiency.
Human genetics 2002;111(4-5):360-7.
2002: A Ansari; C Hassan; John A Duley; Anthony M Marinaki; E-M Shobowale-Bakre; Paul Seed; John Meenan; A Yim; Jeremy Sanderson
Thiopurine methyltransferase activity and the use of azathioprine in inflammatory bowel disease.
Alimentary pharmacology & therapeutics 2002;16(10):1743-50.
2002: Persephone Augoustides-Savvopoulou; Fotis Papachristou; Lynette D Fairbanks; Kostas Dimitrakopoulos; Anthony M Marinaki; H Anne Simmonds
Partial hypoxanthine-Guanine phosphoribosyltransferase deficiency as the unsuspected cause of renal disease spanning three generations: a cautionary tale.
Pediatrics 2002;109(1):E17.
2001: Connie Brouwer; Anthony M Marinaki; Lambert H J Lambooy; John A Duley; Monsor Shobowale-Bakre; Ronney A De Abreu
Pitfalls in the determination of mutant alleles of the thiopurine methyltransferase gene.
Leukemia 2001;15(11):1792-3.
2001: Anthony M Marinaki; Emilia Escuredo; John A Duley; H Anne Simmonds; Adolfo Amici; V Naponelli; Giulio Magni; M Seip; I Ben-Bassat; Eric Harley; Swee Lay Thein; D C Rees
Genetic basis of hemolytic anemia caused by pyrimidine 5' nucleotidase deficiency.
Blood 2001;97(11):3327-32.
1998: Alan St Clair Gibson; Mike I Lambert; AR Weston; KH Myburgh; M Emms; P Kirby; Anthony M Marinaki; P E Owen; Wayne E Derman; Timothy D Noakes
Exercise-induced mitochondrial dysfunction in an elite athlete.
Clinical journal of sport medicine : official journal of the Canadian Academy of Sport Medicine 1998;8(1):52-5.
1997: E Patricia Owen; J Berens; Anthony M Marinaki; H Ipp; Eric Harley
Recessive congenital methaemoglobinaemia type II a new mutation which causes incorrect splicing in the NADH-cytochrome b5 reductase gene.
Journal of inherited metabolic disease 1997;20(4):610.
1992: Rodney David Gilbert; J Wiggelinkhuizen; E H Harley; Anthony M Marinaki
The Lesch-Nyhan syndrome--an under-recognised condition in South Africa? A case report.
South African medical journal = Suid-Afrikaanse tydskrif vir geneeskunde 1992;81(7):375-7.
1990: David A Hopkinson; Dallas M Swallow; Anthony M Marinaki; Eric Harley
Pyrimidine 5'-nucleotidase activity in normal and deficient human lymphoblastoid cells.
Journal of inherited metabolic disease 1990;13(5):701-6.