Lista de obras - Tony Marinaki - Dominio Público Uruguay

4-pyridone-3-carboxamide ribonucleoside triphosphate accumulating in erythrocytes in end stage renal failure originates from tryptophan metabolism

artículo científico publicado en 2007

A Biochemical Mechanism for the Role of Allopurinol in TPMT Inhibition

artículo científico publicado en 2011

A novel nucleotide found in human erythrocytes, 4-pyridone-3-carboxamide-1-beta-D-ribonucleoside triphosphate

artículo científico publicado en 2006

A practical guide to the use of thiopurines in oral medicine

artículo científico

A practical guide to thiopurine prescribing and monitoring in IBD

scientific article published on 29 August 2016

Acute kidney injury in two children caused by renal hypouricaemia type 2.

artículo científico publicado en 2012

Adenine phosphoribosyltransferase deficiency in the United Kingdom: two novel mutations and a cross-sectional survey

artículo científico publicado en 2016

Adenylosuccinate Lyase Deficiency in the United Kingdom Pediatric Population: First Three Cases ⬇️

artículo científico publicado el 1 de noviembre de 2010

Adenylosuccinate lyase deficiency--first British case

artículo científico publicado en 2004

Adverse drug reactions to azathioprine therapy are associated with polymorphism in the gene encoding inosine triphosphate pyrophosphatase (ITPase).

artículo científico publicado en 2004

Allele frequency of inosine triphosphate pyrophosphatase gene polymorphisms in a Japanese population

artículo científico publicado en 2004

An unusual genetic variant in the MOCS1 gene leads to complete missplicing of an alternatively spliced exon in a patient with molybdenum cofactor deficiency.

artículo científico publicado en 2009

An unusual pyridine nucleotide accumulating in erythrocytes: its identity and positive correlation with degree of renal failure

artículo científico publicado en 2004

Assessment of thiopurine methyltransferase enzyme activity is superior to genotype in predicting myelosuppression following azathioprine therapy in patients with inflammatory bowel disease

artículo científico publicado en 2007

Atypical familial juvenile hyperuricemic nephropathy associated with a hepatocyte nuclear factor-1beta gene mutation

artículo científico publicado en 2003

Autosomal dominant tubulointerstitial kidney disease-UMOD is the most frequent non polycystic genetic kidney disease

article

Beware of the Uric Acid: Severe Azathioprine Myelosuppression in a Patient With Juvenile Idiopathic Arthritis and Hereditary Xanthinuria

artículo científico publicado en 2018

Clinical relevance of DPYD variants c.1679T>G, c.1236G>A/HapB3, and c.1601G>A as predictors of severe fluoropyrimidine-associated toxicity: a systematic review and meta-analysis of individual patient data

artículo científico publicado en 2015

Deoxyuridine accumulation in urine in thymidine phosphorylase deficiency (MNGIE).

artículo científico publicado en 2002

Diagnostic tests for primary renal hypouricemia

artículo científico publicado en 2011

Dihydropyrimidine dehydrogenase gene variants for predicting grade 4-5 fluoropyrimidine-induced toxicity: FUSAFE individual patient data meta-analysis

artículo científico publicado en 2024

Do ITPA and TPMT genotypes predict the development of side effects to AZA?

artículo científico publicado en 2006

Exome array analysis of adverse reactions to fluoropyrimidine-based therapy for gastrointestinal cancer.

artículo científico publicado en 2018

Familial juvenile hyperuricaemic nephropathy

artículo científico publicado en 2004

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

article

Further experience with the use of 6-thioguanine in patients with Crohn's disease

artículo científico publicado en 2008

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).

artículo científico publicado en 2004

Genetic basis of hemolytic anemia caused by pyrimidine 5' nucleotidase deficiency

artículo científico publicado en 2001

Genetic basis of inosine triphosphate pyrophosphohydrolase deficiency.

artículo científico publicado en 2002

Genetic determinants of the pre- and post-azathioprine therapy thiopurine methyltransferase activity phenotype

artículo científico publicado en 2004

Genetic determinants of the thiopurine methyltransferase intermediate activity phenotype in British Asians and Caucasians

artículo científico publicado en 2003

Genetic variation in the MTHFR gene influences thiopurine methyltransferase activity

artículo científico publicado en 2005

HPLC/tandem ion trap mass detector methods for determination of inosine monophosphate dehydrogenase (IMPDH) and thiopurine methyltransferase (TPMT)

scientific article published on 01 January 2006

HPRT Deficiency: Identification of Twenty-Four Novel Variants Including an Unusual Deep Intronic Mutation ⬇️

artículo científico publicado el 1 de diciembre de 2011

HPRT deficiency as the cause of ESRD in a 24-year-old patient: a very rare presentation of the disorder

artículo científico publicado en 2005

Influence of xanthine oxidase on thiopurine metabolism in Crohn's disease

artículo científico publicado en 2008

Lesch-Nyhan disease in a 20-year- old man incorrectly described as developing 'cerebral palsy' after general anaesthesia in infancy

artículo científico publicado en 2006

Lesch-Nyhan syndrome: a novel complex mutation with severe phenotype

artículo científico publicado en 2010

Let's get personal: predicting thiopurine and fluoropyrimidine toxicity

artículo científico publicado en 2012

Mapping of a new candidate locus for uromodulin-associated kidney disease (UAKD) to chromosome 1q41

artículo científico publicado en 2005

Mechanism of allopurinol induced TPMT inhibition

artículo científico publicado en 2013

Methotrexate polyglutamates as a marker of patient compliance and clinical response in psoriasis: a single-centre prospective study

article

Modern diagnostic approach to hereditary xanthinuria.

artículo científico publicado en 2014

Mutation in the ITPA gene predicts intolerance to azathioprine

artículo científico publicado en 2004

Nomenclature for alleles of the thiopurine methyltransferase gene

artículo científico publicado en 2013

Novel pharmacogenetic markers for treatment outcome in azathioprine-treated inflammatory bowel disease

artículo científico publicado en 2009

Obituary to Lynette Fairbanks, PhD

scholarly article

Optimising outcome on thiopurines in inflammatory bowel disease by co-prescription of allopurinol

artículo científico publicado en 2012

Optimizing the use of thiopurines in inflammatory bowel disease

artículo científico publicado en 2015

Origin and characteristics of an unusual pyridine nucleotide accumulating in erythrocytes: positive correlation with degree of renal failure

artículo científico publicado en 2003

Partial hypoxanthine-Guanine phosphoribosyltransferase deficiency as the unsuspected cause of renal disease spanning three generations: a cautionary tale

artículo científico publicado en 2002

Pharmacogenetic association with adverse drug reactions to azathioprine immunosuppressive therapy following liver transplantation

artículo científico publicado en 2005

Pharmacogenetic variants in the DPYD, TYMS, CDA and MTHFR genes are clinically significant predictors of fluoropyrimidine toxicity

artículo científico publicado en 2013

Pharmacogenetics of pemetrexed combination therapy in lung cancer: pathway analysis reveals novel toxicity associations

artículo científico publicado en 2014

Pharmacogenomics in the treatment of inflammatory bowel disease

scientific article published on March 2010

Pitfalls in the determination of mutant alleles of the thiopurine methyltransferase gene.

artículo científico publicado en 2001

Polymorphisms in Folate, Pyrimidine, and Purine Metabolism Are Associated with Efficacy and Toxicity of Methotrexate in Psoriasis

article

Prospective evaluation of the pharmacogenetics of azathioprine in the treatment of inflammatory bowel disease

artículo científico publicado en 2008

Purine Nucleoside Phosphorylase Deficiency: A Mutation Update ⬇️

artículo científico publicado el 1 de diciembre de 2011

Purine nucleoside phosphorylase deficiency with a novel PNP gene mutation: a first case report from India

artículo científico publicado en 2011

Pyrimidine 5'-nucleotidase activity in normal and deficient human lymphoblastoid cells

artículo científico publicado en 1990

Pyrimidine pathways in health and disease

artículo científico publicado en 2005

Recessive congenital methaemoglobinaemia type II, a new mutation which causes incorrect splicing in the NADH‐cytochrome b5 reductase gene ⬇️

artículo científico publicado el 1 de agosto de 1997

Review article: malignancy on thiopurine treatment with special reference to inflammatory bowel disease

scientific article published on 16 April 2010

The ITPA c.94C>A and g.IVS2+21A>C sequence variants contribute to missplicing of the ITPA gene

artículo científico publicado en 2006

The contribution of deleterious DPYD gene sequence variants to fluoropyrimidine toxicity in British cancer patients

artículo científico publicado en 2009

The effect of pre-operative anxiety on induction of anaesthesia with propofol.

artículo científico publicado en 2008

The genetic basis of the interaction between pyrimidine 5' nucleotidase I deficiency and hemoglobin E.

artículo científico publicado en 2004

The impact of introducing thioguanine nucleotide monitoring into an inflammatory bowel disease clinic

artículo científico publicado en 2012

Thioguanine in inflammatory bowel disease: Long-term efficacy and safety

artículo científico publicado en 2016

Thiopurine methyltransferase activity and the use of azathioprine in inflammatory bowel disease

artículo científico publicado en 2002

Thiopurine methyltransferase: should it be measured before commencing thiopurine drug therapy?

artículo científico publicado en 2004

Thiopurine treatment in inflammatory bowel disease

artículo científico publicado en 2007

Thiopurines in Inflammatory Bowel Disease: New Findings and Perspectives.

artículo científico publicado en 2017

Trinucleotide repeat variants in the promoter of the thiopurine S-methyltransferase gene of patients exhibiting ultra-high enzyme activity

artículo científico publicado en 2008

Typing TPMT and ITPase to detect azathioprine toxicity

artículo científico publicado en 2006

Lista de obras de Tony Marinaki

4-pyridone-3-carboxamide ribonucleoside triphosphate accumulating in erythrocytes in end stage renal failure originates from tryptophan metabolism

A Biochemical Mechanism for the Role of Allopurinol in TPMT Inhibition

A novel nucleotide found in human erythrocytes, 4-pyridone-3-carboxamide-1-beta-D-ribonucleoside triphosphate

A practical guide to the use of thiopurines in oral medicine

A practical guide to thiopurine prescribing and monitoring in IBD

Acute kidney injury in two children caused by renal hypouricaemia type 2.

Adenine phosphoribosyltransferase deficiency in the United Kingdom: two novel mutations and a cross-sectional survey

Adenylosuccinate Lyase Deficiency in the United Kingdom Pediatric Population: First Three Cases ⬇️

Adenylosuccinate lyase deficiency--first British case

Adverse drug reactions to azathioprine therapy are associated with polymorphism in the gene encoding inosine triphosphate pyrophosphatase (ITPase).

Allele frequency of inosine triphosphate pyrophosphatase gene polymorphisms in a Japanese population

An unusual genetic variant in the MOCS1 gene leads to complete missplicing of an alternatively spliced exon in a patient with molybdenum cofactor deficiency.

An unusual pyridine nucleotide accumulating in erythrocytes: its identity and positive correlation with degree of renal failure

Assessment of thiopurine methyltransferase enzyme activity is superior to genotype in predicting myelosuppression following azathioprine therapy in patients with inflammatory bowel disease

Atypical familial juvenile hyperuricemic nephropathy associated with a hepatocyte nuclear factor-1beta gene mutation

Autosomal dominant tubulointerstitial kidney disease-UMOD is the most frequent non polycystic genetic kidney disease

Beware of the Uric Acid: Severe Azathioprine Myelosuppression in a Patient With Juvenile Idiopathic Arthritis and Hereditary Xanthinuria

Clinical relevance of DPYD variants c.1679T>G, c.1236G>A/HapB3, and c.1601G>A as predictors of severe fluoropyrimidine-associated toxicity: a systematic review and meta-analysis of individual patient data

Deoxyuridine accumulation in urine in thymidine phosphorylase deficiency (MNGIE).

Diagnostic tests for primary renal hypouricemia

Dihydropyrimidine dehydrogenase gene variants for predicting grade 4-5 fluoropyrimidine-induced toxicity: FUSAFE individual patient data meta-analysis

Do ITPA and TPMT genotypes predict the development of side effects to AZA?

Exome array analysis of adverse reactions to fluoropyrimidine-based therapy for gastrointestinal cancer.

Familial juvenile hyperuricaemic nephropathy

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

Further experience with the use of 6-thioguanine in patients with Crohn's disease

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).

Genetic basis of hemolytic anemia caused by pyrimidine 5' nucleotidase deficiency

Genetic basis of inosine triphosphate pyrophosphohydrolase deficiency.

Genetic determinants of the pre- and post-azathioprine therapy thiopurine methyltransferase activity phenotype

Genetic determinants of the thiopurine methyltransferase intermediate activity phenotype in British Asians and Caucasians

Genetic variation in the MTHFR gene influences thiopurine methyltransferase activity

HPLC/tandem ion trap mass detector methods for determination of inosine monophosphate dehydrogenase (IMPDH) and thiopurine methyltransferase (TPMT)

HPRT Deficiency: Identification of Twenty-Four Novel Variants Including an Unusual Deep Intronic Mutation ⬇️

HPRT deficiency as the cause of ESRD in a 24-year-old patient: a very rare presentation of the disorder

Influence of xanthine oxidase on thiopurine metabolism in Crohn's disease

Lesch-Nyhan disease in a 20-year- old man incorrectly described as developing 'cerebral palsy' after general anaesthesia in infancy

Lesch-Nyhan syndrome: a novel complex mutation with severe phenotype

Let's get personal: predicting thiopurine and fluoropyrimidine toxicity

Mapping of a new candidate locus for uromodulin-associated kidney disease (UAKD) to chromosome 1q41

Mechanism of allopurinol induced TPMT inhibition

Methotrexate polyglutamates as a marker of patient compliance and clinical response in psoriasis: a single-centre prospective study

Modern diagnostic approach to hereditary xanthinuria.

Mutation in the ITPA gene predicts intolerance to azathioprine

Nomenclature for alleles of the thiopurine methyltransferase gene

Novel pharmacogenetic markers for treatment outcome in azathioprine-treated inflammatory bowel disease

Obituary to Lynette Fairbanks, PhD

Optimising outcome on thiopurines in inflammatory bowel disease by co-prescription of allopurinol

Optimizing the use of thiopurines in inflammatory bowel disease

Origin and characteristics of an unusual pyridine nucleotide accumulating in erythrocytes: positive correlation with degree of renal failure

Partial hypoxanthine-Guanine phosphoribosyltransferase deficiency as the unsuspected cause of renal disease spanning three generations: a cautionary tale

Pharmacogenetic association with adverse drug reactions to azathioprine immunosuppressive therapy following liver transplantation

Pharmacogenetic variants in the DPYD, TYMS, CDA and MTHFR genes are clinically significant predictors of fluoropyrimidine toxicity

Pharmacogenetics of pemetrexed combination therapy in lung cancer: pathway analysis reveals novel toxicity associations

Pharmacogenomics in the treatment of inflammatory bowel disease

Pitfalls in the determination of mutant alleles of the thiopurine methyltransferase gene.

Polymorphisms in Folate, Pyrimidine, and Purine Metabolism Are Associated with Efficacy and Toxicity of Methotrexate in Psoriasis

Prospective evaluation of the pharmacogenetics of azathioprine in the treatment of inflammatory bowel disease

Purine Nucleoside Phosphorylase Deficiency: A Mutation Update ⬇️

Purine nucleoside phosphorylase deficiency with a novel PNP gene mutation: a first case report from India

Pyrimidine 5'-nucleotidase activity in normal and deficient human lymphoblastoid cells

Pyrimidine pathways in health and disease

Recessive congenital methaemoglobinaemia type II, a new mutation which causes incorrect splicing in the NADH‐cytochrome b5 reductase gene ⬇️

Review article: malignancy on thiopurine treatment with special reference to inflammatory bowel disease

The ITPA c.94C>A and g.IVS2+21A>C sequence variants contribute to missplicing of the ITPA gene

The contribution of deleterious DPYD gene sequence variants to fluoropyrimidine toxicity in British cancer patients

The effect of pre-operative anxiety on induction of anaesthesia with propofol.

The genetic basis of the interaction between pyrimidine 5' nucleotidase I deficiency and hemoglobin E.

The impact of introducing thioguanine nucleotide monitoring into an inflammatory bowel disease clinic

Thioguanine in inflammatory bowel disease: Long-term efficacy and safety

Thiopurine methyltransferase activity and the use of azathioprine in inflammatory bowel disease

Thiopurine methyltransferase: should it be measured before commencing thiopurine drug therapy?

Thiopurine treatment in inflammatory bowel disease

Thiopurines in Inflammatory Bowel Disease: New Findings and Perspectives.

Trinucleotide repeat variants in the promoter of the thiopurine S-methyltransferase gene of patients exhibiting ultra-high enzyme activity

Typing TPMT and ITPase to detect azathioprine toxicity