Lista de obras - Giuseppe Castaldo - Dominio Público Uruguay

A Novel DHPLC-Based Procedure for the Analysis of COL1A1 and COL1A2 Mutations in Osteogenesis Imperfecta ⬇️

artículo científico publicado el 30 de agosto de 2011

A mannose-binding lectin-defective haplotype is a risk factor for gastric cancer

artículo científico publicado en 2006

A novel de novo missense mutation in TP63 underlying germline mosaicism in AEC syndrome: implications for recurrence risk and prenatal diagnosis

artículo científico publicado en 2012

A novel polymorphism in the PAI-1 gene promoter enhances gene expression. A novel pro-thrombotic risk factor?

artículo científico publicado en 2014

A novel promising therapeutic option against hepatitis C virus: an oral nucleotide NS5B polymerase inhibitor sofosbuvir

artículo científico

A polymorphism in the 5' UTR of the DEFB1 gene is associated with the lung phenotype in F508del homozygous Italian cystic fibrosis patients.

artículo científico publicado en 2010

ABT-450: a novel protease inhibitor for the treatment of hepatitis C virus infection

artículo científico

Aberrant F8 gene intron 1 inversion with concomitant duplication and deletion in a severe hemophilia A patient from Southern Italy.

artículo científico publicado en 2013

Activity of mannose-binding lectin in centenarians

artículo científico publicado en 2012

Adiponectin Expression Is Modulated by Long-Term Physical Activity in Adult Patients Affected by Cystic Fibrosis

scientific article published on 09 September 2019

An MBL2 haplotype and ABCB4 variants modulate the risk of liver disease in cystic fibrosis patients: a multicentre study.

artículo científico publicado en 2009

An update on laboratory diagnosis of liver inherited diseases.

artículo científico publicado en 2013

Biological role of mannose binding lectin: From newborns to centenarians.

artículo científico

Brain derived neurotrophic factor (BDNF) genetic polymorphism (Val66Met) in suicide: a study of 512 cases.

artículo científico publicado en 2009

Carcinoembryonic antigen mRNA analysis detects micrometastatic cells in blood from lung cancer patients.

artículo científico publicado en 2003

Catechol-O-methyltransferase (COMT) gene polymorphisms as risk factor in temporomandibular disorders patients from Southern Italy

artículo científico publicado en 2014

Comprehensive cystic fibrosis mutation epidemiology and haplotype characterization in a southern Italian population

scientific article published on 01 January 2005

Congenital Diarrheal Disorders: An Updated Diagnostic Approach ⬇️

artículo científico publicado el 29 de marzo de 2012

Congenital and acquired thrombotic risk factors in lymphoma patients bearing upper extremities deep venous thrombosis: a preliminary report

artículo científico publicado en 2004

Congenital diarrheal disorders: improved understanding of gene defects is leading to advances in intestinal physiology and clinical management.

scientific article published on April 2010

Congenital diarrhoeal disorders: advances in this evolving web of inherited enteropathies

artículo científico

Cystic fibrosis presenting as metabolic alkalosis in a boy with the rare D579G mutation

scientific article published on 01 June 2004

DNA methylation state of BDNF gene is not altered in prefrontal cortex and striatum of schizophrenia subjects

artículo científico publicado en 2014

Daclatasvir: the first of a new class of drugs targeted against hepatitis C virus NS5A.

artículo científico

Denaturing HPLC procedure for factor IX gene scanning.

artículo científico publicado en 2003

Design, synthesis and biochemical investigation, by in vitro luciferase reporter system, of peptide nucleic acids as new inhibitors of miR-509-3p involved in the regulation of cystic fibrosis disease-gene expression

article

Diagnostic efficiency in discriminating liver malignancies from cirrhosis by serum gamma-glutamyltransferase isoforms

artículo científico publicado en 1988

Different outcome of six homozygotes for prothrombin A20210A gene variant

artículo científico publicado en 2008

Distribution of human beta-defensin polymorphisms in various control and cystic fibrosis populations

artículo científico publicado en 2005

Early pregnancy loss in celiac women: The role of genetic markers of thrombophilia

artículo científico publicado en 2009

Editorial Comment to p.Leu636Pro mutation is associated with cystic fibrosis transmembrane conductance regulator-related disorders (congenital bilateral absence of vas deferens).

artículo científico publicado en 2015

Enhanced frequency of CFTR gene variants in couples who are candidates for assisted reproductive technology treatment.

artículo científico publicado en 2011

Epidemiology and a novel procedure for large scale analysis of CFTR rearrangements in classic and atypical CF patients: A multicentric Italian study

article

Exploitation of a very small peptide nucleic acid as a new inhibitor of miR-509-3p involved in the regulation of cystic fibrosis disease-gene expression.

artículo científico publicado en 2014

Extensive molecular analysis of patients bearing CFTR-related disorders.

artículo científico publicado en 2011

Fetuin-A serum levels are not correlated to kidney function in long-lived subjects

artículo científico publicado en 2012

First Diagnosis of Hemophilia B in a Nonagenarian.

artículo científico publicado en 2016

Five human phenylalanine hydroxylase proteins identified in mild hyperphenylalaninemia patients are disease-causing variants.

artículo científico publicado en 2008

Gene mutation in microRNA target sites of CFTR gene: a novel pathogenetic mechanism in cystic fibrosis?

artículo científico publicado en 2013

Genetic diseases that predispose to early liver cirrhosis.

artículo científico publicado en 2014

Genetic modifiers of liver disease in cystic fibrosis

artículo científico publicado en 2009

Genetic prothrombotic risk factors in children with extrahepatic portal vein obstruction

scientific article published on 01 September 2010

Genotype-dependency of butyrate efficacy in children with congenital chloride diarrhea.

artículo científico publicado en 2013

Genotype-phenotype correlation in cystic fibrosis: the role of modifier genes.

artículo científico publicado en 2002

Haemophilia A: molecular insights.

artículo científico publicado en 2007

Haemophilia B: from molecular diagnosis to gene therapy.

artículo científico publicado en 2003

Haplogroup T is an obesity risk factor: mitochondrial DNA haplotyping in a morbid obese population from southern Italy

artículo científico publicado en 2013

Identification of 217 unreported mutations in the F8 gene in a group of 1,410 unselected Italian patients with hemophilia A.

artículo científico publicado en 2008

Identificazione e ruolo dell’Esperto in Emostasi e Trombosi nel Sistema Sanitario Nazionale Italiano

Impaired Ratio of Unsaturated to Saturated Non-Esterified Fatty Acids in Saliva from Patients with Cystic Fibrosis

artículo científico publicado en 2020

Increased BDNF promoter methylation in the Wernicke area of suicide subjects.

artículo científico publicado en 2010

Isolated elevated sweat chloride concentrations in the presence of the rare mutation S1455X: an extremely mild form of CFTR dysfunction

artículo científico publicado en 2005

Ledipasvir : a novel synthetic antiviral for the treatment of HCV infection

artículo científico

Limbal stem cell deficiency and ocular phenotype in ectrodactyly-ectodermal dysplasia-clefting syndrome caused by p63 mutations.

artículo científico publicado en 2011

Liver expression in cystic fibrosis could be modulated by genetic factors different from the cystic fibrosis transmembrane regulator genotype

scientific article published on 01 February 2001

Low expression of human beta-defensin 1 in duodenum of celiac patients is partially restored by a gluten-free diet

artículo científico publicado en 2010

MK-5172 : a second-generation protease inhibitor for the treatment of hepatitis C virus infection.

artículo científico publicado en 2014

MTHFR C677T allelic variant is not associated with plasma and cerebrospinal fluid homocysteine in amyotrophic lateral sclerosis

Mannose-binding lectin genetic analysis: possible protective role of the HYPA haplotype in the development of recurrent urinary tract infections in men.

artículo científico publicado en 2013

Molecular Epidemiology of Phenylalanine Hydroxylase Deficiency in Southern Italy: a 96% Detection Rate with Ten Novel Mutations

article

Molecular analysis and genotype-phenotype correlation in patients with antithrombin deficiency from Southern Italy

artículo científico publicado en 2012

Molecular analysis of cluster headache.

artículo científico publicado en 2015

Molecular and functional analysis of the large 5' promoter region of CFTR gene revealed pathogenic mutations in CF and CFTR-related disorders

artículo científico publicado en 2013

Molecular diagnosis of cystic fibrosis: comparison of four analytical procedures

artículo científico publicado en 2003

Multivariate discriminant analysis of biochemical parameters for the differentiation of clinically confounding liver diseases.

artículo científico publicado en 1997

Mutational spectrum of F8 gene and prothrombotic gene variants in haemophilia A patients from Southern Italy.

artículo científico publicado en 2008

Omics in laboratory medicine

artículo científico publicado en 2013

Pediatric portal vein thrombosis: more on thrombophilic risk factors

artículo científico publicado en 2013

Per-rectal portal scintigraphy with technetium-99m pertechnetate for the early diagnosis of cirrhosis in patients with chronic hepatitis

artículo científico publicado en 1992

Phenotypic discordance in three siblings affected by atypical cystic fibrosis with the F508del/D614G genotype

artículo científico publicado en 2006

Phenotypic expression of genotype-phenotype correlation in cystic fibrosis patients carrying the 852del22 mutation

artículo científico publicado en 2005

Pre-analytical stability of the plasma proteomes based on the storage temperature

artículo científico publicado en 2013

Prediction of acute pancreatitis risk based on PIP score in children with cystic fibrosis.

artículo científico publicado en 2014

Prenatal diagnosis of cystic fibrosis: an experience of 181 cases

artículo científico publicado en 2013

Prenatal diagnosis of haemophilia: our experience of 44 cases.

artículo científico publicado en 2013

Prenatal diagnosis of inherited diseases: 20 years' experience of an Italian Regional Reference Centre.

artículo científico publicado en 2013

Prenatal screening and counseling for genetic disorders

artículo científico publicado en 2013

Prostate-specific antigen (protein and mRNA) analysis in the differential diagnosis and staging of prostate cancer

artículo científico publicado en 1997

Prothrombotic gene variants as risk factors of acute myocardial infarction in young women ⬇️

artículo científico publicado el 21 de noviembre de 2012

Quality assessment in cytogenetic and molecular genetic testing: the experience of the Italian Project on Standardisation and Quality Assurance

article

Reduced absorption and enhanced synthesis of cholesterol in patients with cystic fibrosis: a preliminary study of plasma sterols

artículo científico publicado en 2016

Serum type-2 macro-creatine kinase isoenzyme is not a useful marker of severe liver diseases or neoplasia

artículo científico publicado en 1990

Severe liver impairment in a cystic fibrosis-affected child homozygous for the G542X mutation

artículo científico publicado en 1997

Telaprevir: a promising protease inhibitor for the treatment of hepatitis C virus infection.

artículo científico publicado en 2009

The Italian AICE-Genetics hemophilia A database: results and correlation with clinical phenotype

artículo científico publicado en 2008

The Italian External Quality Control Programme for cystic fibrosis molecular diagnosis: 4 years of activity

artículo científico publicado en 2007

The Italian pilot external quality assessment program for cystic fibrosis sweat test

artículo científico publicado en 2016

The expert in hemostasis and thrombosis in the Italian health system: role and requirements for a specific clinical and laboratory expertise

article

Three novel CFTR polymorphic repeats improve segregation analysis for cystic fibrosis.

artículo científico publicado en 2009

TrkB gene expression and DNA methylation state in Wernicke area does not associate with suicidal behavior

artículo científico publicado en 2011

Tropomyosin-related kinase B receptor polymorphisms and isoforms expression in suicide victims

artículo científico publicado en 2014

Two cases of microvillous inclusion disease caused by novel mutations in MYO5B gene

scientific article published on 30 October 2018

Two novel genomic rearrangements identified in suicide subjects using a-CGH array

artículo científico publicado en 2015

What is the role of the non-coding regions of the CFTR gene in cystic fibrosis?

artículo científico publicado en 2013

Lista de obras de Giuseppe Castaldo

A Novel DHPLC-Based Procedure for the Analysis of COL1A1 and COL1A2 Mutations in Osteogenesis Imperfecta ⬇️

A mannose-binding lectin-defective haplotype is a risk factor for gastric cancer

A novel de novo missense mutation in TP63 underlying germline mosaicism in AEC syndrome: implications for recurrence risk and prenatal diagnosis

A novel polymorphism in the PAI-1 gene promoter enhances gene expression. A novel pro-thrombotic risk factor?

A novel promising therapeutic option against hepatitis C virus: an oral nucleotide NS5B polymerase inhibitor sofosbuvir

A polymorphism in the 5' UTR of the DEFB1 gene is associated with the lung phenotype in F508del homozygous Italian cystic fibrosis patients.

ABT-450: a novel protease inhibitor for the treatment of hepatitis C virus infection

Aberrant F8 gene intron 1 inversion with concomitant duplication and deletion in a severe hemophilia A patient from Southern Italy.

Activity of mannose-binding lectin in centenarians

Adiponectin Expression Is Modulated by Long-Term Physical Activity in Adult Patients Affected by Cystic Fibrosis

An MBL2 haplotype and ABCB4 variants modulate the risk of liver disease in cystic fibrosis patients: a multicentre study.

An update on laboratory diagnosis of liver inherited diseases.

Biological role of mannose binding lectin: From newborns to centenarians.

Brain derived neurotrophic factor (BDNF) genetic polymorphism (Val66Met) in suicide: a study of 512 cases.

Carcinoembryonic antigen mRNA analysis detects micrometastatic cells in blood from lung cancer patients.

Catechol-O-methyltransferase (COMT) gene polymorphisms as risk factor in temporomandibular disorders patients from Southern Italy

Comprehensive cystic fibrosis mutation epidemiology and haplotype characterization in a southern Italian population

Congenital Diarrheal Disorders: An Updated Diagnostic Approach ⬇️

Congenital and acquired thrombotic risk factors in lymphoma patients bearing upper extremities deep venous thrombosis: a preliminary report

Congenital diarrheal disorders: improved understanding of gene defects is leading to advances in intestinal physiology and clinical management.

Congenital diarrhoeal disorders: advances in this evolving web of inherited enteropathies

Cystic fibrosis presenting as metabolic alkalosis in a boy with the rare D579G mutation

DNA methylation state of BDNF gene is not altered in prefrontal cortex and striatum of schizophrenia subjects

Daclatasvir: the first of a new class of drugs targeted against hepatitis C virus NS5A.

Denaturing HPLC procedure for factor IX gene scanning.

Design, synthesis and biochemical investigation, by in vitro luciferase reporter system, of peptide nucleic acids as new inhibitors of miR-509-3p involved in the regulation of cystic fibrosis disease-gene expression

Diagnostic efficiency in discriminating liver malignancies from cirrhosis by serum gamma-glutamyltransferase isoforms

Different outcome of six homozygotes for prothrombin A20210A gene variant

Distribution of human beta-defensin polymorphisms in various control and cystic fibrosis populations

Early pregnancy loss in celiac women: The role of genetic markers of thrombophilia

Editorial Comment to p.Leu636Pro mutation is associated with cystic fibrosis transmembrane conductance regulator-related disorders (congenital bilateral absence of vas deferens).

Enhanced frequency of CFTR gene variants in couples who are candidates for assisted reproductive technology treatment.

Epidemiology and a novel procedure for large scale analysis of CFTR rearrangements in classic and atypical CF patients: A multicentric Italian study

Exploitation of a very small peptide nucleic acid as a new inhibitor of miR-509-3p involved in the regulation of cystic fibrosis disease-gene expression.

Extensive molecular analysis of patients bearing CFTR-related disorders.

Fetuin-A serum levels are not correlated to kidney function in long-lived subjects

First Diagnosis of Hemophilia B in a Nonagenarian.

Five human phenylalanine hydroxylase proteins identified in mild hyperphenylalaninemia patients are disease-causing variants.

Gene mutation in microRNA target sites of CFTR gene: a novel pathogenetic mechanism in cystic fibrosis?

Genetic diseases that predispose to early liver cirrhosis.

Genetic modifiers of liver disease in cystic fibrosis

Genetic prothrombotic risk factors in children with extrahepatic portal vein obstruction

Genotype-dependency of butyrate efficacy in children with congenital chloride diarrhea.

Genotype-phenotype correlation in cystic fibrosis: the role of modifier genes.

Haemophilia A: molecular insights.

Haemophilia B: from molecular diagnosis to gene therapy.

Haplogroup T is an obesity risk factor: mitochondrial DNA haplotyping in a morbid obese population from southern Italy

Identification of 217 unreported mutations in the F8 gene in a group of 1,410 unselected Italian patients with hemophilia A.

Identificazione e ruolo dell’Esperto in Emostasi e Trombosi nel Sistema Sanitario Nazionale Italiano

Impaired Ratio of Unsaturated to Saturated Non-Esterified Fatty Acids in Saliva from Patients with Cystic Fibrosis

Increased BDNF promoter methylation in the Wernicke area of suicide subjects.

Isolated elevated sweat chloride concentrations in the presence of the rare mutation S1455X: an extremely mild form of CFTR dysfunction

Ledipasvir : a novel synthetic antiviral for the treatment of HCV infection

Limbal stem cell deficiency and ocular phenotype in ectrodactyly-ectodermal dysplasia-clefting syndrome caused by p63 mutations.

Liver expression in cystic fibrosis could be modulated by genetic factors different from the cystic fibrosis transmembrane regulator genotype

Low expression of human beta-defensin 1 in duodenum of celiac patients is partially restored by a gluten-free diet

MK-5172 : a second-generation protease inhibitor for the treatment of hepatitis C virus infection.

MTHFR C677T allelic variant is not associated with plasma and cerebrospinal fluid homocysteine in amyotrophic lateral sclerosis

Mannose-binding lectin genetic analysis: possible protective role of the HYPA haplotype in the development of recurrent urinary tract infections in men.

Molecular Epidemiology of Phenylalanine Hydroxylase Deficiency in Southern Italy: a 96% Detection Rate with Ten Novel Mutations

Molecular analysis and genotype-phenotype correlation in patients with antithrombin deficiency from Southern Italy

Molecular analysis of cluster headache.

Molecular and functional analysis of the large 5' promoter region of CFTR gene revealed pathogenic mutations in CF and CFTR-related disorders

Molecular diagnosis of cystic fibrosis: comparison of four analytical procedures

Multivariate discriminant analysis of biochemical parameters for the differentiation of clinically confounding liver diseases.

Mutational spectrum of F8 gene and prothrombotic gene variants in haemophilia A patients from Southern Italy.

Omics in laboratory medicine

Pediatric portal vein thrombosis: more on thrombophilic risk factors

Per-rectal portal scintigraphy with technetium-99m pertechnetate for the early diagnosis of cirrhosis in patients with chronic hepatitis

Phenotypic discordance in three siblings affected by atypical cystic fibrosis with the F508del/D614G genotype

Phenotypic expression of genotype-phenotype correlation in cystic fibrosis patients carrying the 852del22 mutation

Pre-analytical stability of the plasma proteomes based on the storage temperature

Prediction of acute pancreatitis risk based on PIP score in children with cystic fibrosis.

Prenatal diagnosis of cystic fibrosis: an experience of 181 cases

Prenatal diagnosis of haemophilia: our experience of 44 cases.

Prenatal diagnosis of inherited diseases: 20 years' experience of an Italian Regional Reference Centre.

Prenatal screening and counseling for genetic disorders

Prostate-specific antigen (protein and mRNA) analysis in the differential diagnosis and staging of prostate cancer

Prothrombotic gene variants as risk factors of acute myocardial infarction in young women ⬇️