Lista de obras - Alberto Piperno - Dominio Público Uruguay

A phase 1/2, dose-escalation trial of deferasirox for the treatment of iron overload in HFE-related hereditary hemochromatosis

artículo científico publicado en 2010

A severe hemojuvelin mutation leading to late onset of HFE2-hemochromatosis

scientific article published on 27 April 2018

Allelic association of microsatellites of 6p in Italian hemochromatosis patients

artículo científico publicado en 1996

Alterations in sympathetic nerve traffic in genetic haemochromatosis before and after iron depletion therapy: a microneurographic study.

artículo científico publicado en 2015

Association of hereditary spherocytosis and idiopathic hemochromatosis. A synergistic effect in determining iron overload.

artículo científico publicado en 1986

Blunted hepcidin response to oral iron challenge in HFE-related hemochromatosis

article

CYBRD1 as a modifier gene that modulates iron phenotype in HFE p.C282Y homozygous patients

artículo científico publicado en 2012

Cardiac alterations in 36 consecutive patients with idiopathic haemochromatosis: polygraphic and echocardiographic evaluation.

artículo científico publicado en 1991

Ceruloplasmin replacement therapy ameliorates neurological symptoms in a preclinical model of aceruloplasminemia.

artículo científico publicado en 2017

Changes in 24 h ambulatory blood pressure and effects of angiotensin II receptor blockade during acute and prolonged high-altitude exposure: a randomized clinical trial

Circulating factors are involved in hypoxia-induced hepcidin suppression.

artículo científico publicado en 2014

Clinical, biochemical and molecular findings in a series of families with hereditary hyperferritinaemia-cataract syndrome

scientific article published on 01 November 2001

Construction of a genetic map telomeric to HLA-A by microsatellite analysis

scientific article published on 01 October 1993

Does aceruloplasminemia modulate iron phenotype in thalassemia intermedia?

artículo científico publicado en 2015

Early impairment of large artery structure and function in type I diabetes mellitus

scientific article published on 01 August 1999

Effects of hematocrit changes on flow-mediated and metabolic vasodilation in humans

artículo científico publicado en 2002

Effects of plasma transfusion on hepcidin production in human congenital hypotransferrinemia

article

Factors affecting erythrocyte ferritin content in thalassaemia intermedia

scientific article published on 01 January 1984

Faecal occult blood test and iron deficiency anaemia

artículo científico publicado en 2012

Ferritin, metabolic syndrome and NAFLD: elective attractions and dangerous liaisons

artículo científico publicado en 2007

GNPAT rs11558492 is not a Major Modifier of Iron Status: Study of Italian Hemochromatosis Patients and Blood Donors

artículo científico publicado en 2017

Genetic and metabolic factors are associated with increased hepatic iron stores in a selected population of p.Cys282Tyr heterozygotes

artículo científico publicado en 2010

Genetic hemochromatosis in Italian patients with prophyria cutanea tarda: possible explanation for iron overload

article

Genome-wide association study identifies TF as a significant modifier gene of iron metabolism in HFE hemochromatosis

artículo científico publicado en 2014

HCV genotypes in Northern Italy: a survey of 1368 histologically proven chronic hepatitis C patients.

artículo científico publicado en 1998

HLA typing in 67 Italian patients with idiopathic hemochromatosis and their relatives

scientific article published on 01 April 1989

Haemochromatosis in patients with beta-thalassaemia trait

scientific article published on 01 December 2000

Hepatic iron overload in patients with chronic viral hepatitis: role of HFE gene mutations.

artículo científico publicado en 1998

Hepatitis C virus and porphyria cutanea tarda: evidence of a strong association

artículo científico publicado el 1 de diciembre de 1992

Hepatocellular carcinoma in Gaucher disease: an international case series.

artículo científico publicado en 2018

Hepcidin and iron-related gene expression in subjects with Dysmetabolic Hepatic Iron Overload

article

Hepcidin expression in iron overload diseases is variably modulated by circulating factors

artículo científico publicado en 2012

Hepcidin modulation in human diseases: from research to clinic.

artículo científico publicado en 2009

Hepcidin response to acute iron intake and chronic iron loading in dysmetabolic iron overload syndrome

artículo científico publicado en 2011

Heterogeneity of hemochromatosis in Italy

artículo científico publicado en 1998

High prevalence of the His63Asp HFE mutation in italian patients with porphyria cutanea tarda

artículo científico publicado en 1998

Higher than expected progranulin mutation rate in a case series of Italian FTLD patients.

artículo científico publicado en 2009

Increased serum ferritin is common in men with essential hypertension

scientific article published on 01 August 2002

Index measured at an intermediate altitude to predict impending acute mountain sickness

artículo científico publicado en 2011

Inherited HFE-unrelated hemochromatosis in Italian families

article

Iron chelation therapy in aceruloplasminaemia: study of a patient with a novel missense mutation.

artículo científico publicado en 2004

Iron chelation with deferasirox in a patient with de-novo ferroportin mutation

artículo científico publicado en 2015

Iron overload in subjects with beta-thalassaemia trait: role of idiopathic haemochromatosis gene

scientific article published on 01 November 1985

Linkage analysis of 6p21 polymorphic markers and the hereditary hemochromatosis: localization of the gene centromeric to HLA-F

artículo científico publicado en 1993

Low-dose interleukin-2 subcutaneous immunotherapy in association with the pineal hormone melatonin as a first-line therapy in locally advanced or metastatic hepatocellular carcinoma

artículo científico publicado en 1994

Measurement of serum hepcidin-25 levels as a potential test for diagnosing hemochromatosis and related disorders

artículo científico publicado en 2010

Measurement of urinary hepcidin levels by SELDI-TOF-MS in HFE-hemochromatosis

artículo científico publicado en 2007

Modulation of hepcidin production during hypoxia-induced erythropoiesis in humans in vivo: data from the HIGHCARE project

artículo científico publicado en 2010

Modulation of urinary peptidome in humans exposed to high altitude hypoxia

Molecular diagnosis of hemochromatosis.

artículo científico publicado en 2013

Movement disorders and brain iron overload in a new subtype of aceruloplasminemia.

artículo científico publicado en 2015

Myelodysplastic Syndromes and Iron Chelation Therapy

artículo científico publicado en 2017

New mutations inactivating transferrin receptor 2 in hemochromatosis type 3.

artículo científico publicado en 2001

No association between genetic hemochromatosis and alpha1-antitrypsin deficiency

artículo científico publicado en 1996

Novel mutations of the ferroportin gene (SLC40A1): analysis of 56 consecutive patients with unexplained iron overload.

artículo científico publicado en 2007

Olfactory impairment and pathology in neurodegenerative disorders with brain iron accumulation

artículo científico publicado en 2013

Patatin-like phospholipase domain containing-3 gene I148M polymorphism, steatosis, and liver damage in hereditary hemochromatosis.

artículo científico publicado en 2012

Patients with chronic hepatitis C may be more sensitive to iron hepatotoxicity than patients with HFE-hemochromatosis

artículo científico publicado en 2010

Phenotypic heterogeneity in seven Italian cases of aceruloplasminemia.

artículo científico publicado en 2018

Preclinical hypogonadism in genetic hemochromatosis in the early stage of the disease: evidence of hypothalamic dysfunction

artículo científico publicado el 1 de junio de 1992

Prevalence of HFE mutations in upper Northern Italy: study of 1132 unrelated blood donors.

artículo científico publicado en 2003

Prognostic factors for hepatocellular carcinoma in genetic hemochromatosis

artículo científico publicado en 1994

Progressive supranuclear palsy-like phenotype caused by progranulin p.Thr272fs mutation

artículo científico publicado en 2011

Proprotein convertase 7 rs236918 associated with liver fibrosis in Italian patients with HFE-related hemochromatosis.

artículo científico publicado en 2016

Radial artery wall alterations in genetic hemochromatosis before and after iron depletion therapy

artículo científico publicado en 2000

Reduced expression of hepcidin in patients with myelodysplastic syndrome and myelofibrosis: the causes might be more heterogeneous than in thalassaemia

scientific article published on 01 December 2008

Revaluation of clinical and histological criteria for diagnosis of dysmetabolic iron overload syndrome

artículo científico publicado en 2008

Saturability of hepatic iron deposits in genetic hemochromatosis

artículo científico publicado en 1992

Screening hepcidin for mutations in juvenile hemochromatosis: identification of a new mutation (C70R)

artículo científico publicado en 2004

Serum type III procollagen peptide in alcoholic liver disease and idiopathic hemochromatosis: its relationship to hepatic fibrosis, activity of the disease and iron overload

scientific article published on 01 May 1985

Simultaneous liver iron and fat measures by magnetic resonance imaging in patients with hyperferritinemia

artículo científico publicado en 2015

Spectrum of hemojuvelin gene mutations in 1q-linked juvenile hemochromatosis.

artículo científico publicado en 2004

Survival and prognostic factors in 212 Italian patients with genetic hemochromatosis

scientific article published on 01 April 1992

The ancestral hemochromatosis haplotype is associated with a severe phenotype expression in Italian patients

scientific article published on 01 July 1996

The iron status of Italian subjects with beta-thalassemia trait.

artículo científico publicado en 1982

The mitochondrial superoxide dismutase A16V polymorphism in the cardiomyopathy associated with hereditary haemochromatosis.

artículo científico publicado en 2004

Time course of circulatory and humoral effects of rapid total paracentesis in cirrhotic patients with tense, refractory ascites.

artículo científico publicado en 1994

Transferrin receptor 2 mutations in patients with juvenile hemochromatosis phenotype

artículo científico publicado en 2015

Two novel nonsense mutations of HFE gene in five unrelated italian patients with hemochromatosis

artículo científico publicado en 2000

Unexplained isolated hyperferritinemia without iron overload

artículo científico publicado en 2017

Urinary excretion of cimetropium bromide after multiple oral doses

scientific article published on 01 January 1987

Lista de obras de Alberto Piperno

A phase 1/2, dose-escalation trial of deferasirox for the treatment of iron overload in HFE-related hereditary hemochromatosis

A severe hemojuvelin mutation leading to late onset of HFE2-hemochromatosis

Allelic association of microsatellites of 6p in Italian hemochromatosis patients

Alterations in sympathetic nerve traffic in genetic haemochromatosis before and after iron depletion therapy: a microneurographic study.

Association of hereditary spherocytosis and idiopathic hemochromatosis. A synergistic effect in determining iron overload.

Blunted hepcidin response to oral iron challenge in HFE-related hemochromatosis

CYBRD1 as a modifier gene that modulates iron phenotype in HFE p.C282Y homozygous patients

Cardiac alterations in 36 consecutive patients with idiopathic haemochromatosis: polygraphic and echocardiographic evaluation.

Ceruloplasmin replacement therapy ameliorates neurological symptoms in a preclinical model of aceruloplasminemia.

Changes in 24 h ambulatory blood pressure and effects of angiotensin II receptor blockade during acute and prolonged high-altitude exposure: a randomized clinical trial

Circulating factors are involved in hypoxia-induced hepcidin suppression.

Clinical, biochemical and molecular findings in a series of families with hereditary hyperferritinaemia-cataract syndrome

Construction of a genetic map telomeric to HLA-A by microsatellite analysis

Does aceruloplasminemia modulate iron phenotype in thalassemia intermedia?

Early impairment of large artery structure and function in type I diabetes mellitus

Effects of hematocrit changes on flow-mediated and metabolic vasodilation in humans

Effects of plasma transfusion on hepcidin production in human congenital hypotransferrinemia

Factors affecting erythrocyte ferritin content in thalassaemia intermedia

Faecal occult blood test and iron deficiency anaemia

Ferritin, metabolic syndrome and NAFLD: elective attractions and dangerous liaisons

GNPAT rs11558492 is not a Major Modifier of Iron Status: Study of Italian Hemochromatosis Patients and Blood Donors

Genetic and metabolic factors are associated with increased hepatic iron stores in a selected population of p.Cys282Tyr heterozygotes

Genetic hemochromatosis in Italian patients with prophyria cutanea tarda: possible explanation for iron overload

Genome-wide association study identifies TF as a significant modifier gene of iron metabolism in HFE hemochromatosis

HCV genotypes in Northern Italy: a survey of 1368 histologically proven chronic hepatitis C patients.

HLA typing in 67 Italian patients with idiopathic hemochromatosis and their relatives

Haemochromatosis in patients with beta-thalassaemia trait

Hepatic iron overload in patients with chronic viral hepatitis: role of HFE gene mutations.

Hepatitis C virus and porphyria cutanea tarda: evidence of a strong association

Hepatocellular carcinoma in Gaucher disease: an international case series.

Hepcidin and iron-related gene expression in subjects with Dysmetabolic Hepatic Iron Overload

Hepcidin expression in iron overload diseases is variably modulated by circulating factors

Hepcidin modulation in human diseases: from research to clinic.

Hepcidin response to acute iron intake and chronic iron loading in dysmetabolic iron overload syndrome

Heterogeneity of hemochromatosis in Italy

High prevalence of the His63Asp HFE mutation in italian patients with porphyria cutanea tarda

Higher than expected progranulin mutation rate in a case series of Italian FTLD patients.

Increased serum ferritin is common in men with essential hypertension

Index measured at an intermediate altitude to predict impending acute mountain sickness

Inherited HFE-unrelated hemochromatosis in Italian families

Iron chelation therapy in aceruloplasminaemia: study of a patient with a novel missense mutation.

Iron chelation with deferasirox in a patient with de-novo ferroportin mutation

Iron overload in subjects with beta-thalassaemia trait: role of idiopathic haemochromatosis gene

Linkage analysis of 6p21 polymorphic markers and the hereditary hemochromatosis: localization of the gene centromeric to HLA-F

Low-dose interleukin-2 subcutaneous immunotherapy in association with the pineal hormone melatonin as a first-line therapy in locally advanced or metastatic hepatocellular carcinoma

Measurement of serum hepcidin-25 levels as a potential test for diagnosing hemochromatosis and related disorders

Measurement of urinary hepcidin levels by SELDI-TOF-MS in HFE-hemochromatosis

Modulation of hepcidin production during hypoxia-induced erythropoiesis in humans in vivo: data from the HIGHCARE project

Modulation of urinary peptidome in humans exposed to high altitude hypoxia

Molecular diagnosis of hemochromatosis.

Movement disorders and brain iron overload in a new subtype of aceruloplasminemia.

Myelodysplastic Syndromes and Iron Chelation Therapy

New mutations inactivating transferrin receptor 2 in hemochromatosis type 3.

No association between genetic hemochromatosis and alpha1-antitrypsin deficiency

Novel mutations of the ferroportin gene (SLC40A1): analysis of 56 consecutive patients with unexplained iron overload.

Olfactory impairment and pathology in neurodegenerative disorders with brain iron accumulation

Patatin-like phospholipase domain containing-3 gene I148M polymorphism, steatosis, and liver damage in hereditary hemochromatosis.

Patients with chronic hepatitis C may be more sensitive to iron hepatotoxicity than patients with HFE-hemochromatosis

Phenotypic heterogeneity in seven Italian cases of aceruloplasminemia.

Preclinical hypogonadism in genetic hemochromatosis in the early stage of the disease: evidence of hypothalamic dysfunction

Prevalence of HFE mutations in upper Northern Italy: study of 1132 unrelated blood donors.

Prognostic factors for hepatocellular carcinoma in genetic hemochromatosis

Progressive supranuclear palsy-like phenotype caused by progranulin p.Thr272fs mutation

Proprotein convertase 7 rs236918 associated with liver fibrosis in Italian patients with HFE-related hemochromatosis.

Radial artery wall alterations in genetic hemochromatosis before and after iron depletion therapy

Reduced expression of hepcidin in patients with myelodysplastic syndrome and myelofibrosis: the causes might be more heterogeneous than in thalassaemia

Revaluation of clinical and histological criteria for diagnosis of dysmetabolic iron overload syndrome

Saturability of hepatic iron deposits in genetic hemochromatosis

Screening hepcidin for mutations in juvenile hemochromatosis: identification of a new mutation (C70R)

Serum type III procollagen peptide in alcoholic liver disease and idiopathic hemochromatosis: its relationship to hepatic fibrosis, activity of the disease and iron overload

Simultaneous liver iron and fat measures by magnetic resonance imaging in patients with hyperferritinemia

Spectrum of hemojuvelin gene mutations in 1q-linked juvenile hemochromatosis.

Survival and prognostic factors in 212 Italian patients with genetic hemochromatosis

The ancestral hemochromatosis haplotype is associated with a severe phenotype expression in Italian patients

The iron status of Italian subjects with beta-thalassemia trait.

The mitochondrial superoxide dismutase A16V polymorphism in the cardiomyopathy associated with hereditary haemochromatosis.

Time course of circulatory and humoral effects of rapid total paracentesis in cirrhotic patients with tense, refractory ascites.

Transferrin receptor 2 mutations in patients with juvenile hemochromatosis phenotype

Two novel nonsense mutations of HFE gene in five unrelated italian patients with hemochromatosis