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Lista de obras de Francesco Salvatore

"Classical organic acidurias": diagnosis and pathogenesis.

artículo científico publicado en 2016

A 15-year case-mix experience for fragile X syndrome molecular diagnosis and comparison between conventional and alternative techniques leading to a novel diagnostic procedure.

artículo científico publicado en 2012

A First Look at an Automated Pipeline for NGS-Based Breast-Cancer Diagnosis: The CArDIGAN Approach

scholarly article published 2016

A Functional Analysis of the Unclassified Pro2767Ser BRCA2 Variant Reveals Its Potential Pathogenicity that Acts by Hampering DNA Binding and Homology-Mediated DNA Repair

scientific article published on 28 September 2019

A Novel Pathogenic BRCA1 Splicing Variant Produces Partial Intron Retention in the Mature Messenger RNA.

scientific article published on 21 December 2016

A case of discordance between genotype and phenotype in a malignant hyperthermia family

artículo científico publicado en 1999

A child cohort study from southern Italy enlarges the genetic spectrum of hypertrophic cardiomyopathy.

artículo científico publicado en 2009

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

artículo científico publicado en 2006

A new human species of aldolase A mRNA from fibroblasts

artículo científico publicado en 1987

A novel MLL/AF4 fusion gene lacking the AF4 transactivating domain in infant acute lymphoblastic leukemia

artículo científico publicado en 2002

A novel anti-aldolase C antibody specifically interacts with residues 85-102 of the protein

artículo científico publicado en 2014

A novel fully human anti-NCL immunoRNase for triple-negative breast cancer therapy.

artículo científico publicado en 2016

A paraoxonase gene polymorphism, PON 1 (55), as an independent risk factor for increased carotid intima-media thickness in middle-aged women

artículo científico publicado en 2003

A quantitative polymerase chain reaction (PCR) assay completely discriminates between Duchenne and Becker muscular dystrophy deletion carriers and normal females

scientific article published on 01 April 1996

A role for D-aspartate oxidase in schizophrenia and in schizophrenia-related symptoms induced by phencyclidine in mice

artículo científico publicado en 2015

A unique origin for Sicilian (??)?-thalassemia in 33 unrelated families and its rapid diagnostic characterization by PCR analysis

scientific article published on 01 June 1994

ABCG2, a novel antigen to sort luminal progenitors of BRCA1- breast cancer cells.

artículo científico publicado en 2014

AKT participates in endothelial dysfunction in hypertension

artículo científico publicado en 2004

Allele frequency distributions at several variable number of tandem repeat (VNTR) and short tandem repeat (STR) loci in a restricted Caucasian population from south Italy and their evaluation for paternity and forensic use.

artículo científico publicado en 1996

Allelic Complexity in Long QT Syndrome: A Family-Case Study.

artículo científico publicado en 2017

Altered brain protein expression profiles are associated with molecular neurological dysfunction in the PKU mouse model.

artículo científico publicado en 2014

Altered expression of inflammation-related genes in human carotid atherosclerotic plaques

article

Altered miR-193a-5p expression in children with cow's milk allergy.

artículo científico publicado en 2017

Amino acid composition of skeletal muscle of domestic buffalo (Bos bubalus L.). I. Comparative studies and nutritional value of proteins

artículo científico publicado en 1975

Amino acid composition of skeletal muscle of domestic buffalo (Bos bubalus L.). II. Fractionation in three protein fractions and studies of their amino acid pattern

artículo científico publicado en 1975

An altered gut microbiome profile in a child affected by Crohn's disease normalized after nutritional therapy

artículo científico publicado en 2013

An ancestral host defence peptide within human β-defensin 3 recapitulates the antibacterial and antiviral activity of the full-length molecule

artículo científico publicado en 2015

Analysis of dystrophin gene deletions indicates that the hinge III region of the protein correlates with disease severity.

artículo científico publicado en 2005

Autosomal recessive congenital ichthyosis and congenital hypothyroidism in a Tunisian patient with a nonsense mutation in TGM1

artículo científico publicado en 2009

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

artículo científico

Biomarker discovery by proteomics-based approaches for early detection and personalized medicine in colorectal cancer

artículo científico publicado en 2016

Biomimetic carriers mimicking leukocyte plasma membrane to increase tumor vasculature permeability.

artículo científico publicado en 2016

CD66c is a novel marker for colorectal cancer stem cell isolation, and its silencing halts tumor growth in vivo

artículo científico publicado en 2012

CMRL-T, a novel T-cell line showing asynchronous phenotype (CD34(+)/CD1a(-)/TCRalphabeta(+)) and dual T-cell receptor beta chain

artículo científico publicado en 2006

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

artículo científico publicado en 2003

Carotid artery remodeling in middle-aged women with the metabolic syndrome (from the "Progetto ATENA" study).

artículo científico publicado en 2005

Changes in the MicroRNA Profile Observed in the Subcutaneous Adipose Tissue of Obese Patients after Laparoscopic Adjustable Gastric Banding.

artículo científico publicado en 2017

Chapter 8 Biochemical Correlations Between Pseudouridine Excretion and Neoplasias

Characterization of a silencer that modulates transcription of the human distal aldolase A promoter.

artículo científico publicado en 1995

Characterization of red cell membrane proteins as a function of red cell density: annexin VII in different forms of hereditary spherocytosis.

artículo científico publicado en 2006

Characterization of two novel cell lines, DERL-2 (CD56+/CD3+/Tcry5+) and DERL-7 (CD56+/CD3-/TCRgammadelta-), derived from a single patient with CD56+ non-Hodgkin's lymphoma

artículo científico publicado en 2001

Child neurology: Recurrent rhabdomyolysis due to a fatty acid oxidation disorder

scientific article published on 01 January 2014

Chimeric beta-defensin analogs, including the novel 3NI analog, display salt-resistant antimicrobial activity and lack toxicity in human epithelial cell lines

artículo científico publicado en 2013

Cis-acting elements in the promoter region of the human aldolase C gene

artículo científico publicado en 1993

Citrulline blood levels as indicators of residual intestinal absorption in patients with short bowel syndrome

artículo científico publicado en 2008

Clinical and genetic characterization of patients with hypertrophic cardiomyopathy and right atrial enlargement

artículo científico publicado en 2016

Combined CD133/CD44 expression as a prognostic indicator of disease-free survival in patients with colorectal cancer.

artículo científico publicado en 2012

Comparative metagenomic analysis of human gut microbiome composition using two different bioinformatic pipelines

artículo científico publicado en 2014

Complete sequencing of Novosphingobium sp. PP1Y reveals a biotechnologically meaningful metabolic pattern

artículo científico publicado en 2014

Comprehensive mutation analysis (20 families) of the choroideremia gene reveals a missense variant that prevents the binding of REP1 with rab geranylgeranyl transferase

article

Cracking the Code of Human Diseases Using Next-Generation Sequencing: Applications, Challenges, and Perspectives

artículo científico publicado en 2015

Crosstalk between 14-3-3θ and AF4 enhances MLL-AF4 activity and promotes leukemia cell proliferation

artículo científico publicado en 2019

Cytometric and biochemical characterization of human breast cancer cells reveals heterogeneous myoepithelial phenotypes

artículo científico publicado en 2012

DNA sequence capture and next-generation sequencing for the molecular diagnosis of genetic cardiomyopathies

artículo científico publicado en 2013

De novo sequencing and assembly of the whole genome of Novosphingobium sp. strain PP1Y.

artículo científico publicado en 2011

Decreased paraoxonase-2 expression in human carotids during the progression of atherosclerosis

artículo científico publicado en 2008

Denaturing HPLC procedure for factor IX gene scanning.

artículo científico publicado en 2003

Design and activity of a cyclic mini-β-defensin analog: a novel antimicrobial tool.

artículo científico publicado en 2015

Determination of pseudouridine and other nucleosides in human blood serum by high-performance liquid chromatography.

artículo científico publicado en 1983

Determination of pseudouridine in tRNA and in acid-soluble tissue extracts by high-performance liquid chromatography

scientific article published on 01 July 1984

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

artículo científico publicado en 1988

Differences in DNA methylation profile of Th1 and Th2 cytokine genes are associated with tolerance acquisition in children with IgE-mediated cow's milk allergy

artículo científico publicado en 2015

Different TGM1 mutation spectra in Italian and Portuguese patients with autosomal recessive congenital ichthyosis: evidence of founder effects in Portugal.

artículo científico publicado en 2013

Differential distribution of aldolase A and C in the human central nervous system.

artículo científico publicado en 2001

Direct detection of exon deletions/duplications in female carriers of and male patients with Duchenne/Becker muscular dystrophy.

artículo científico publicado en 2004

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

artículo científico publicado en 2005

Diverse human aldolase C gene promoter regions are required to direct specific LacZ expression in the hippocampus and Purkinje cells of transgenic mice.

artículo científico publicado en 2004

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

artículo científico publicado en 2009

Effect of adenosylhomocysteine and other analog thioethers on a prokaryotic tRNA (guanine-7)-methyltransferase

artículo científico publicado en 1982

Effect of high-density lipoprotein cholesterol levels on carotid artery geometry in a Mediterranean female population

artículo científico publicado en 2004

Effect of lifelong football training on the expression of muscle molecular markers involved in healthy longevity.

artículo científico publicado en 2017

Effects of the protein corona on liposome-liposome and liposome-cell interactions

artículo científico publicado en 2016

Efficacy of pharmacological treatment and genetic characterization in early diagnosed patients affected by long QT syndrome with impaired AV conduction

scientific article published on 09 April 2011

Electrophoretic behavior and partial characterization of disease-associated serum forms of gamma-glutamyltransferase.

artículo científico publicado en 1989

Enabling cytoplasmic delivery and organelle targeting by surface modification of nanocarriers

artículo científico

Epigenetic features of FoxP3 in children with cow's milk allergy

artículo científico publicado en 2016

Estimation of extremely low amounts of single mRNAs by quantitative noncompetitive reverse transcription--polymerase chain reaction assay in biological specimens from normal and neoplastic cells

scientific article published on 01 March 1995

Evaluation of circulating levels and renal clearance of natural amino acids in patients with Cushing's disease

artículo científico publicado en 2002

Evaluation of pancreatic amylase immunoassay in acute pancreatitis

artículo científico publicado en 1989

Fast Detection of a BRCA2 Large Genomic Duplication by Next Generation Sequencing as a Single Procedure: A Case Report

artículo científico publicado en 2017

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

artículo científico publicado en 2008

Functional Studies and In Silico Analyses to Evaluate Non-Coding Variants in Inherited Cardiomyopathies.

artículo científico publicado en 2016

Functional and molecular modelling studies of two hereditary fructose intolerance-causing mutations at arginine 303 in human liver aldolase

artículo científico publicado en 2000

Functional and structural characterization of novel mutations and genotype-phenotype correlation in 51 phenylalanine hydroxylase deficient families from Southern Italy

artículo científico publicado en 2009

Functional assay of tRNA molecules transcribed from a purified gene.

artículo científico publicado en 1982

Functional characterization of ryanodine receptor (RYR1) sequence variants using a metabolic assay in immortalized B-lymphocytes

artículo científico publicado en 2009

Functional foods and cardiometabolic diseases* International Task Force for Prevention of Cardiometabolic Diseases

artículo científico publicado en 2014

Gaining insights into the Bcr-Abl activity-independent mechanisms of resistance to imatinib mesylate in KCL22 cells: a comparative proteomic approach

artículo científico publicado en 2010

Genetic analysis in a family affected by sick sinus syndrome may reduce the sudden death risk in a young aspiring competitive athlete.

artículo científico publicado en 2013

Genetic characterization of Italian patients with Bardet-Biedl syndrome and correlation to ocular, renal and audio-vestibular phenotype: identification of eleven novel pathogenic sequence variants.

artículo científico publicado en 2017

Genetic modifiers of liver disease in cystic fibrosis

artículo científico publicado en 2009

Genetic typing of Corallium rubrum

artículo científico publicado en 2004

Genotype-Phenotype Correlation: A Triple DNA Mutational Event in a Boy Entering Sport Conveys an Additional Pathogenicity Risk

scientific article published on 08 May 2020

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

artículo científico publicado en 2002

Growth-arrested dependence of aldolase A L-type mRNA expression in rodent cell lines.

artículo científico publicado en 1994

Haemophilia A: molecular insights.

artículo científico publicado en 2007

Haemophilia B: from molecular diagnosis to gene therapy.

artículo científico publicado en 2003

Hereditary fructose intolerance and celiac disease: a novel genetic association.

artículo científico publicado en 2006

Hereditary fructose intolerance: functional study of two novel ALDOB natural variants and characterization of a partial gene deletion

artículo científico publicado en 2010

Histidine regulation in Salmonella typhimurium. XVI. A sensitive radiochemical assay for histidinol dehydrogenase

artículo científico publicado en 1975

Holt-Oram syndrome associated with anomalies of the feet

artículo científico publicado en 2008

Host defense peptide-derived privileged scaffolds for anti-infective drug discovery

artículo científico publicado en 2017

Human aldolase A gene. Structural organization and tissue-specific expression by multiple promoters and alternate mRNA processing

artículo científico publicado en 1988

Human aldolase A natural mutants: relationship between flexibility of the C-terminal region and enzyme function

artículo científico publicado en 2004

Human aldolase B cDNA detects a Pvu II RFLP in healthy individuals

artículo científico publicado en 1986

Human aldolase C gene expression is regulated by adenosine 3',5'-cyclic monophosphate (cAMP) in PC12 cells.

artículo científico publicado en 2002

Human anti-nucleolin recombinant immunoagent for cancer therapy

artículo científico publicado en 2015

Identification and functional characterization of malignant hyperthermia mutation T1354S in the outer pore of the Cavalpha1S-subunit

artículo científico publicado en 2010

Identification of a deletion in the NDUFS4 gene using array-comparative genomic hybridization in a patient with suspected mitochondrial respiratory disease

artículo científico publicado en 2013

Identification of a novel mutation in the ryanodine receptor gene (RYR1) in a malignant hyperthermia Italian family

artículo científico publicado en 2000

IgA antibodies to tissue transglutaminase: An effective diagnostic test for celiac disease

artículo científico publicado en 1999

In vivo activity of the most proximal promoter of the human aldolase A ene and analysis of transcriptional control elements

artículo científico publicado en 1989

Insulin and glucagon degradation in liver are not affected by hepatic cirrhosis.

artículo científico publicado en 1989

Ischemic neoangiogenesis enhanced by beta2-adrenergic receptor overexpression: a novel role for the endothelial adrenergic system

artículo científico publicado en 2005

Isolation and characterization of a tRNA(guanine-7-)-methyltransferase from Salmonella typhimurium

artículo científico publicado en 1983

Late diagnosis of Fabry disease caused by a de novo mutation in a patient with end stage renal disease

artículo científico publicado en 2015

Lessons to be learned from the clinical management of a MEN 2A patient bearing a novel 634/640/700 mutation of the RET proto-oncogene.

artículo científico publicado en 2012

Liposome-Embedding Silicon Microparticle for Oxaliplatin Delivery in Tumor Chemotherapy

scientific article published on 17 June 2020

Mapping of a restriction fragment length polymorphism within the human aldolase B gene

artículo científico publicado en 1987

Membrane protein 4F2/CD98 is a cell surface receptor involved in the internalization and trafficking of human β-Defensin 3 in epithelial cells

artículo científico publicado en 2015

Metagenomics Reveals Dysbiosis and a Potentially Pathogenic N. flavescens Strain in Duodenum of Adult Celiac Patients

artículo científico publicado en 2016

Microbial diversity in natural whey cultures used for the production of Caciocavallo Silano PDO cheese.

artículo científico publicado en 2008

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

article

Molecular response to imatinib in late chronic-phase chronic myeloid leukemia

artículo científico publicado en 2003

Mucopolysaccharidosis type II: Identification of six novel mutations in Italian patients

article

Mulibrey nanism: Two novel mutations in a child identified by Array CGH and DNA sequencing.

artículo científico publicado en 2016

Multidisciplinarity and interdisciplinarity at work: the prenatal diagnosis

artículo científico publicado en 2013

Multiple Control Elements Regulate Transcription from the Most Distal Promoter of Human Aldolase A Gene

article

Multiplex PCR typing of the three most frequent HLA alleles in celiac disease

scientific article published on 01 August 2001

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

artículo científico publicado en 1997

Natural phenylalanine hydroxylase variants that confer a mild phenotype affect the enzyme's conformational stability and oligomerization equilibrium

artículo científico publicado en 2011

Negative regulation of the mouse aldolase A gene. A cell cycle-dependent DNA binding activity functions as a silencer of gene transcription

artículo científico publicado en 1997

Neutrophilic-chronic myeloid leukemia

No Change in the Mucosal Gut Microbiome is Associated With Celiac Disease-Specific Microbiome Alteration in Adult Patients

artículo científico publicado en 2016

Novel deletion at the M and P promoters of the human dystrophin gene associated with a Duchenne muscular dystrophy

artículo científico publicado en 2002

Novel deletion mutation in the cardiac sodium channel inactivation gate causes long QT syndrome

artículo científico publicado en 2012

Novel mitochondrial protein interactors of immunoglobulin light chains causing heart amyloidosis.

artículo científico publicado en 2015

Novel mutations and structural implications in R-type pyruvate kinase-deficient patients from Southern Italy

scientific article published on 01 January 1998

Novel six-nucleotide deletion in the hepatic fructose-1,6-bisphosphate aldolase gene in a patient with hereditary fructose intolerance and enzyme structure-function implications

artículo científico publicado en 1999

One-pot synthesis of pH-responsive hybrid nanogel particles for the intracellular delivery of small interfering RNA.

artículo científico publicado en 2016

Oropharyngeal microbiome evaluation highlights Neisseria abundance in active celiac patients.

artículo científico publicado en 2018

PEGylated helper-dependent adenoviral vector expressing human Apo A-I for gene therapy in LDLR-deficient mice

artículo científico publicado en 2013

Partial purification and MALDI-TOF MS analysis of UN1, a tumor antigen membrane glycoprotein.

artículo científico publicado en 2006

Pearls & oy-sters: familial epileptic encephalopathy due to methylenetetrahydrofolate reductase deficiency

artículo científico publicado en 2014

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

Photoletter to the editor: Lamellar ichthyosis and arthrogryposis in a premature neonate

artículo científico publicado en 2015

Prenatal diagnosis of cystic fibrosis: an experience of 181 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 molecular diagnosis of inherited neuromuscular diseases: Duchenne/Becker muscular dystrophy, myotonic dystrophy type 1 and spinal muscular atrophy.

artículo científico publicado en 2013

Prevention of Ammonia Toxicity by Amino-acids concerned in the Biosynthesis of Urea

artículo científico publicado en 1961

Problems and perspectives of clinical biochemistry training, and the example of Italy.

artículo científico publicado en 1996

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

artículo científico publicado en 1997

Protein cross-talk in CD133+ colon cancer cells indicates activation of the Wnt pathway and upregulation of SRp20 that is potentially involved in tumorigenicity

scientific article published on 01 June 2012

Protein network study of human AF4 reveals its central role in RNA Pol II-mediated transcription and in phosphorylation-dependent regulatory mechanisms.

artículo científico publicado en 2011

Publisher Correction: Randomized controlled trial on the influence of dietary intervention on epigenetic mechanisms in children with cow's milk allergy: the EPICMA study

scientific article published on 26 June 2019

Purification and properties of several transfer RNA methyltransferases from S. typhimurium

artículo científico publicado en 1981

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

article

Quality of Life (QoL) assessment in a cohort of patients with phenylketonuria

artículo científico publicado en 2014

Quantitative analysis of S-adenosylmethionine and S-adenosylhomocysteine in animal tissues

artículo científico publicado en 1971

Quantitative liquid chromatography coupled with tandem mass spectrometry analysis of urinary acylglycines: application to the diagnosis of inborn errors of metabolism

scientific article published on 01 June 2011

RBM5-AS1 Is Critical for Self-Renewal of Colon Cancer Stem-like Cells.

artículo científico publicado en 2016

RYR1 Sequence Variants in Myopathies: Expression and Functional Studies in Two Families.

artículo científico publicado en 2019

Randomized controlled trial on the influence of dietary intervention on epigenetic mechanisms in children with cow's milk allergy: the EPICMA study

artículo científico publicado en 2019

Rapid detection of mycoplasma in continuous cell lines using a selective biochemical test

artículo científico publicado en 2007

Red blood cells affect the margination of microparticles in synthetic microcapillaries and intravital microcirculation as a function of their size and shape

artículo científico publicado en 2015

SLC26A4 genotypes associated with enlarged vestibular aqueduct malformation in south Italian children with sensorineural hearing loss

artículo científico publicado en 2016

SRp20: an overview of its role in human diseases.

artículo científico

Serum Mn-superoxide dismutase in acute myocardial infarction

artículo científico publicado en 1997

Serum pseudouridine in the diagnosis of acute leukaemias and as a novel prognostic indicator in acute lymphoblastic leukaemia

scientific article published on 01 December 1993

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

artículo científico publicado en 1990

Serum withdrawal after embryoid body formation does not impair cardiomyocyte development from mouse embryonic stem cells.

artículo científico publicado en 2010

Sex-Comparative Analysis of the miRNome of Human Amniotic Mesenchymal Stem Cells During Obesity.

artículo científico publicado en 2016

Should a BRCA2 stop codon human variant, usually considered a polymorphism, be classified as a predisposing mutation?

artículo científico publicado en 2014

Significance of sarcomere gene mutations analysis in the end-stage phase of hypertrophic cardiomyopathy

article

Significant reduction of the hybrid BCR/ABL transcripts after induction and consolidation therapy is a powerful predictor of treatment response in adult Philadelphia-positive acute lymphoblastic leukemia.

artículo científico publicado en 2005

Simultaneous occurrence of tetrasomy 21 and trisomy 8 in a patient with early blastic metamorphosis of chronic myeloproliferative disorder

artículo científico publicado en 1995

Six novel alleles identified in Italian hereditary fructose intolerance patients enlarge the mutation spectrum of the aldolase B gene.

artículo científico publicado en 2004

Solid-phase synthesis and pharmacological evaluation of novel nucleoside-tethered dinuclear platinum(II) complexes

artículo científico publicado en 2011

Structural features of the regulatory ACT domain of phenylalanine hydroxylase

artículo científico publicado en 2013

Studies on the identification and characterization of an aspartase activity in liver of elasmobranch fishes

artículo científico publicado en 1972

Targeted metabolomics in the expanded newborn screening for inborn errors of metabolism

artículo científico publicado en 2015

The Cause of Death of a Child in the 18th Century Solved by Bone Microbiome Typing Using Laser Microdissection and Next Generation Sequencing

artículo científico publicado en 2017

The Molecular Hallmarks of the Serrated Pathway in Colorectal Cancer

scientific article published on 20 July 2019

The analysis of the inflorescence miRNome of the orchid Orchis italica reveals a DEF-like MADS-box gene as a new miRNA target

artículo científico publicado en 2014

The complete 12 Mb genome and transcriptome of Nonomuraea gerenzanensis with new insights into its duplicated "magic" RNA polymerase

artículo científico publicado en 2016

The complete nucleotide sequence of the gene coding for the human aldolase C

artículo científico publicado en 1988

The complete sequence of a full length cDNA for human liver glyceraldehyde-3-phosphate dehydrogenase: evidence for multiple mRNA species.

artículo científico publicado en 1984

The first case of mitochondrial acetoacetyl-CoA thiolase deficiency identified by expanded newborn metabolic screening in Italy: the importance of an integrated diagnostic approach

artículo científico publicado en 2010

The impact of nanoparticle protein corona on cytotoxicity, immunotoxicity and target drug delivery

artículo científico publicado en 2016

The molecular analysis of BRCA1 and BRCA2: Next-generation sequencing supersedes conventional approaches

artículo científico publicado en 2015

The multi-faceted aspects of the complex cardiac Nav1.5 protein in membrane function and pathophysiology

artículo científico publicado en 2015

The personal human oral microbiome obscures the effects of treatment on periodontal disease

scientific article published on 29 January 2014

The role of the gut microbiome in the healthy adult status

artículo científico publicado en 2015

Therapeutic angiogenesis in diabetic apolipoprotein E-deficient mice using bone marrow cells, functional hemangioblasts and metabolic intervention

artículo científico publicado en 2009

Three novel germline mutations in the adenomatous polyposis coli gene.

artículo científico publicado en 1997

Towards the identification of the allosteric Phe-binding site in phenylalanine hydroxylase.

artículo científico publicado en 2015

Transcription factor TBX1 overexpression induces downregulation of proteins involved in retinoic acid metabolism: a comparative proteomic analysis.

artículo científico publicado en 2009

Transglutaminase 1 gene mutations in Italian patients with autosomal recessive lamellar ichthyosis

artículo científico publicado en 2001

Unveiling the in Vivo Protein Corona of Circulating Leukocyte-like Carriers.

artículo científico publicado en 2017

miR-138/miR-222 Overexpression Characterizes the miRNome of Amniotic Mesenchymal Stem Cells in Obesity

artículo científico publicado en 2016

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