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List of works by Ettore Capoluongo

A Noninvasive Surfactant Adsorption Test Predicting the Need for Surfactant Therapy in Preterm Infants Treated with Continuous Positive Airway Pressure.

scientific article published on 15 December 2016

A Whole Germline BRCA2 Gene Deletion: How to Learn from CNV In Silico Analysis.

scientific article

A case of patient affected by hirsutism carrying the P482S CYP21 gene mutation associated with loss of heterozygosity (LOH).

scientific article published on 28 February 2006

A case of pheochromocytoma with negative MIBG scintigraphy, PET-CT and genetic tests (VHL included) and a rare case of post-operative erectile dysfunction

scientific article published on 02 June 2018

A comprehensive BRCA1/2 NGS pipeline for an immediate Copy Number Variation (CNV) detection in breast and ovarian cancer molecular diagnosis

scientific article published on 16 February 2018

A new CYP21A1P/CYP21A2 chimeric gene identified in an Italian woman suffering from classical congenital adrenal hyperplasia form

scientific article published on 22 July 2009

A new CYP21A2 nonsense mutation causing severe 21-hydroxylase deficiency

scientific article published on 01 January 2009

A new standardized absolute quantitative RT-PCR method for detection of tyrosinase mRNAs in melanoma patients: technical and operative instructions.

scientific article

A novel CYP24A1 genotype associated to a clinical picture of hypercalcemia, nephrolithiasis and low bone mass.

scientific article published on 17 September 2016

A novel MEN1 frameshift germline mutation in two Italian monozygotic twins

article

A novel germline mutation at exon 10 of MEN1 gene: a clinical survey and positive genotype-phenotype analysis of a MEN1 Italian family, including monozygotic twins

article

A preliminary Quality Control (QC) for next generation sequencing (NGS) library evaluation turns out to be a very useful tool for a rapid detection of BRCA1/2 deleterious mutations.

scientific article

A prolonged neonatal jaundice associated with a rare G6PD mutation.

scientific article published in September 2009

A rapid screening of a recurrent CYP24A1 pathogenic variant opens the way to molecular testing for Idiopathic Infantile Hypercalcemia (IIH)

scientific article published on 21 March 2018

A rare case of juvenile hypertension: coexistence of type 2 multiple endocrine neoplasia -related bilateral pheochromocytoma and reninoma in a young patient with ACE gene polymorphism.

scientific article published on 18 June 2015

A vascular endothelial growth factor deficiency characterises scleroderma lung disease.

scientific article published on 8 March 2012

ACE I allele is associated with more severe portal hypertension in patients with liver cirrhosis: A pilot study

scientific article published on 28 August 2018

Absolute quantitative PCR for detection of molecular biomarkers in melanoma patients: a preliminary report.

scientific article

Acute haemolytic crisis due to concomitant presence of infection and possible altered acetaminophen catabolism in a Philipino child carrying the G6PD-Vanua Lava mutation.

scientific article published on 25 March 2011

Additional molecular and clinical evidence open the way to definitive IARC classification of the BRCA1 c.5332G > A (p.Asp1778Asn) variant

scientific article published on 10 October 2018

Advanced tools for BRCA1/2 mutational screening: comparison between two methods for large genomic rearrangements (LGRs) detection.

scientific article

Analytical assessment of bone serum markers in patients suffering from spina bifida

scientific article published on 01 February 2015

Association between cutaneous melanoma, Breslow thickness and vitamin D receptor BsmI polymorphism

scientific article published on 01 February 2007

Association of IL-8 and eNOS polymorphisms with clinical outcomes in bevacizumab-treated breast cancer patients: an exploratory analysis.

scientific article

Association of MBL2 variants with early preterm delivery

scientific article published on 01 February 2007

Association of anorexia with sarcopenia in a community-dwelling elderly population: results from the ilSIRENTE study.

scientific article published on 25 August 2012

Association of calcium channel blocker use and pregnancy-associated plasma protein-A among older adults with hypertension: results from the ilSIRENTE study

scientific article published on 01 November 2007

Association of periodontitis with GSTM1/GSTT1-null variants--a pilot study.

scientific article published on 27 April 2007

BRCA Mutation Status to Personalize Management of Recurrent Ovarian Cancer: A Multicenter Study

scientific article published on 20 August 2018

BRCA mutational status, initial disease presentation, and clinical outcome in high-grade serous advanced ovarian cancer: a multicenter study.

scientific article published on 23 May 2017

BRCA to the future: towards best testing practice in the era of personalised healthcare.

scientific article published on September 2016

Bile acids cause secretory phospholipase A2 activity enhancement, revertible by exogenous surfactant administration.

scientific article published on 14 October 2008

Blood presence of circulating oncofetal fibronectin mRNA, by RT-PCR, does not represent a useful specific marker for the management and follow-up of thyroid cancer patients.

scientific article published on 6 January 2012

Bronchoalveolar lavage fluid peptidomics suggests a possible matrix metalloproteinase-3 role in bronchopulmonary dysplasia

scientific article published on 25 September 2009

CYP21A2 genetics: When genotype does not fit phenotype

scientific article published on 21 July 2015

CYP21A2 intronic variants causing 21-hydroxylase deficiency.

scientific article

Capillary electrophoresis as alternative method to detect tumor genetic mutations: the model built on the founder BRCA1 c.4964_4982del19 variant

scientific article published on 01 January 2019

Characterization of a new BRCA1 rearrangement in an Italian woman with hereditary breast and ovarian cancer syndrome

scientific article published on 9 May 2017

Circulating endothelial cell levels in psoriatic patients and their modification after an anti-TNF-alpha (Etanercept) treatment

scientific article published on 18 March 2013

Circulating fetal cell-free DNA and prenatal molecular diagnostics: are we ready for consensus?

scientific article published on 01 May 2014

Circulating tumor cell-related transcripts in blood as prognostic biomarkers of early recurrence after liver resection for colorectal metastases

scientific article published on 18 June 2019

Circulating tumor cells in colorectal cancer patients.

scientific article published on 30 January 2013

Clinical and biological role of secretory phospholipase A2 in acute respiratory distress syndrome infants

scientific article

Clinical impact on ovarian cancer patients of massive parallel sequencing for BRCA mutation detection: the experience at Gemelli hospital and a literature review.

scientific article published on 26 August 2015

Co-inheritance of G6PD and PK deficiencies in a neonate carrying a Novel UGT1A1 genotype associated to Crigler-Najjar type II syndrome.

scientific article published on 27 March 2015

Comments to "A rational, non-radioactive strategy for the molecular diagnosis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency"

scientific article published on 26 October 2013

Common genetic variants of MUTYH are not associated with cutaneous malignant melanoma: application of molecular screening by means of high-resolution melting technique in a pilot case-control study.

scientific article

Competitive PCR-High Resolution Melting Analysis (C-PCR-HRMA) for large genomic rearrangements (LGRs) detection: A new approach to assess quantitative status of BRCA1 gene in a reference laboratory

scientific article published on 29 April 2017

Contribution of the TA repeats on melting temperature (T(m)) in a double strand DNA: comparison of two methods and implications in molecular diagnostics

scientific article published on 21 March 2011

Correction to: BRCA Mutation Status to Personalize Management of Recurrent Ovarian Cancer: A Multicenter Study

scientific article published on 01 December 2018

Correspondence between clinical improvement and proteomic changes of the salivary peptide complex in a child with primary Sjögren syndrome

scientific article published on 12 January 2008

Could G6PD-Buenos-Aires confirm the existence of the "structural NADP+ binding site" and its strategic role for the stability and/or activity enzyme?

scientific article

Cu to Zn ratio, physical function, disability, and mortality risk in older elderly (ilSIRENTE study).

scientific article published on 5 May 2011

DNA from buccal swab is suitable for rapid genotyping of angiotensin-converting enzyme insertion/deletion (I/D) polymorphism.

scientific article

Description of a novel missense mutation of glucose-6-phosphate dehydrogenase gene associated with asymptomatic high enzyme deficiency

article

Description of an Automated Method for Urea Nitrogen Determination in Bronchoalveolar Lavage Fluid (BALF) of Neonates and Infants.

scientific article published on 13 January 2015

Detection of Activating Estrogen Receptor Gene (ESR1) Mutations in Single Circulating Tumor Cells

scientific article published on 5 July 2017

Detection of BRCA1/2 large genomic rearrangements in breast and ovarian cancer patients: an overview of the current methods

scientific article published on 28 August 2019

Development of an Automated and Sensitive Microfluidic Device for Capturing and Characterizing Circulating Tumor Cells (CTCs) from Clinical Blood Samples

scientific article published on 25 January 2016

Differentiated Thyroid Cancer in Two Patients with Resistance to Thyroid Hormone

scientific article published on 07 June 2011

Disability, more than multimorbidity, was predictive of mortality among older persons aged 80 years and older.

scientific article published on 8 January 2010

Drug-eluting stents in a patient with favism: is the aspirin administration safe?

scientific article

Effect of alcohol dehydrogenase-1B and -7 polymorphisms on blood ethanol and acetaldehyde concentrations in healthy subjects with a history of moderate alcohol consumption.

scientific article

Effect of prenatal steroidal inhibition of sPLA2 in a rat model of preterm lung.

scientific article published on 15 December 2015

Effect of whole body hypothermia on inflammation and surfactant function in asphyxiated neonates.

scientific article published on 19 August 2014

Epithelial lining fluid free IGF-I-to-PAPP-A ratio is associated with bronchopulmonary dysplasia in preterm infants

scientific article published on 05 September 2006

Erratum to: A novel CYP24A1 genotype associated to a clinical picture of hypercalcemia, nephrolithiasis and low bone mass.

scientific article

Erratum to: High Resolution Melting Analysis is Very Useful to Identify BRCA1 c.4964_4982del19 (rs80359876) Founder Calabrian Pathogenic Variant on Peripheral Blood and Buccal Swab DNA

scientific article published on 01 April 2017

Evaluation of the diagnostic and predictive power of PCA3 in the prostate cancer. A different best cut-off in each different scenario. Preliminary results

scientific article published on 30 December 2014

FOXM1 expression is significantly associated with chemotherapy resistance and adverse prognosis in non-serous epithelial ovarian cancer patients

scientific article

Feasibility of extracellular competitive inhibition of phospholipase A2 in neonatal and pediatric lung injury

scientific article published on 01 April 2011

Free insulin-like growth factor-I and cognitive function in older persons living in community

scientific article published on 08 January 2007

Functional analysis of two rare CYP21A2 mutations detected in Italian patients with a mildest form of congenital adrenal hyperplasia

article

Functional effect of Saffron supplementation and risk genotypes in early age-related macular degeneration: a preliminary report

scientific article published on 25 September 2013

G6PD Murcia, G6PD Ube and G6PD Orissa: report of three G6PD mutations unusual for Italian population.

scientific article published on 16 July 2010

GSTT1 and GSTM1 allelic polymorphisms in head and neck cancer patients from Italian Lazio Region.

scientific article

Genes, pseudogenes and like genes: the case of 21-hydroxylase in Italian population.

scientific article

Genetic analysis of the dystroglycan gene in bronchopulmonary dysplasia affected premature newborns

article

Genetic cystic fibrosis transmembrane regulator 4016insT D1152H compound heterozygosity and male infertility: an Italian case report

article

Gilbert and Crigler Najjar syndromes: an update of the UDP-glucuronosyltransferase 1A1 (UGT1A1) gene mutation database.

scientific article

Glucose-6-phosphate dehydrogenase (G6PD) mutations database: review of the "old" and update of the new mutations.

scientific article published on 30 January 2012

Glucose-6-phosphate dehydrogenase Buenos Aires: a novel de novo missense mutation associated with severe enzyme deficiency.

scientific article published on 28 November 2007

Glucose-6-phosphate dehydrogenase laboratory assay: How, when, and why?

scientific article published on January 2009

Guidance Statement On BRCA1/2 Tumor Testing in Ovarian Cancer Patients

scientific article published in June 2017

HLA coeliac haplotypes and Primary Autoimmune Hypophysitis in Caucasian patients.

scientific article published on 8 February 2018

High Resolution Melting Analysis (HRMA) for the identification of a rare UGT1A1 promoter polymorphism

scientific article published on 25 August 2011

High Resolution Melting Analysis is Very Useful to Identify Breast Cancer Type 1 Susceptibility Protein (BRCA1) c.4964_4982del19 (rs80359876) Founder Calabrian Pathogenic Variant on Peripheral Blood and Buccal Swab DNA.

scientific article published on 4 February 2017

Homocysteinemia is inversely correlated with platelet count and directly correlated with sE- and sP-selectin levels in females homozygous for C677T methylenetetrahydrofolate reductase.

scientific article published in May 2005

Human cardiac progenitor cells with regenerative potential can be isolated and characterized from 3D-electro-anatomic guided endomyocardial biopsies.

scientific article published on March 2017

Hypophysitis Outcome and Factors Predicting Responsiveness to Glucocorticoid Therapy: A Prospective and Double-Arm Study

scholarly article by Sabrina Chiloiro et al published 1 August 2018 in The Journal of Clinical Endocrinology and Metabolism

IL-8 and eNOS polymorphisms predict bevacizumab-based first line treatment outcomes in RAS mutant metastatic colorectal cancer patients

scientific article published on 25 January 2017

Identification and Characterization of a New BRCA2 Rearrangement in an Italian Family with Hereditary Breast and Ovarian Cancer Syndrome.

scientific article published on 15 June 2017

Identification of RFLP G6PD mutations by using microcapillary electrophoretic chips (Experion).

scientific article published in August 2008

Identification of a novel mutation in UDP-glucuronosyltransferase (UGT1A1) gene in a child with neonatal unconjugated hyperbilirubinemia

scientific article published on 22 October 2012

Identification of twenty-nine novel germline unclassified variants of BRCA1 and BRCA2 genes in 1400 Italian individuals.

scientific article published on 8 October 2017

In silico investigation of the molecular effects caused by R123H variant in secretory phospholipase A2-IIA associated with ARDS

scientific article published on 06 March 2018

Influence of saffron supplementation on retinal flicker sensitivity in early age-related macular degeneration.

scientific article published on 4 August 2010

Insight into a novel p53 single point mutation (G389E) by Molecular Dynamics Simulations.

scientific article published on 30 December 2010

Insulin-like growth factor I (CA) repeats are associated with higher melanoma's Breslow index but not associated with the presence of the melanoma. A pilot study

scientific article published on 12 January 2008

Insulin-like growth factor system and sporadic malignant melanoma.

scientific article

Insulin-like growth factor-binding protein 3 and hemoglobin concentration in older persons living in the community

scientific article published on 01 May 2007

Interleukin-6, C-reactive protein, and tumor necrosis factor-alpha as predictors of mortality in frail, community-living elderly individuals

scientific article

Inverse correlation between serum free IGF-I and IGFBP-3 levels and blood pressure in patients affected with type 1 diabetes

scientific article published on 01 June 2006

Is capillary electrophoresis on microchip devices able to genotype uridine diphosphate glucuronosyltransferase 1A1 TATA-box polymorphisms?

scientific article published on 2 May 2014

Is quantitative real time polymerase chain reaction MCAM transcript assay really suitable for prognostic and predictive management of melanoma patients?

scientific article

Lactose intolerance genetic testing: is it useful as routine screening? Results on 1426 south-central Italy patients.

scientific article published on 2 October 2014

Lifetime occupation and physical function: a prospective cohort study on persons aged 80 years and older living in a community.

scientific article

Main implications related to the switch to BRCA1/2 tumor testing in ovarian cancer patients: a proposal of a consensus.

scientific article

Mannose-binding lectin polymorphisms and pulmonary outcome in premature neonates: a pilot study

scientific article published on 26 July 2007

Medullary Thyroid Carcinoma With Exon 2 p.L56M RET Variant: Clinical Particular Features in Two Patients

scientific article published on 19 July 2018

Meta-analysis and pooled analysis of GSTM1 and CYP1A1 polymorphisms and oral and pharyngeal cancers: a HuGE-GSEC review

scientific article

Multidisciplinary team for elucidation of any new mutation and how this approach can be useful to individualize any genetic result: the case of BRCA2 c.631G>A/c.7008-2A>T genotype Response to: Nagy PL, Mansukhani M. The role of clinical genomic test

scientific article published on 17 May 2016

Multiple endocrine neoplasia type 1 (MEN1): An update of 208 new germline variants reported in the last nine years.

scientific article

Multiplex Ligation-Dependent Probe Amplification Analysis Is Useful for Diagnosing Congenital Adrenal Hyperplasia but Requires a Deep Knowledge of CYP21A2 Genetics

article

Multiplex ligation-dependent probe amplification (MLPA) assay for the detection of CYP21A2 gene deletions/duplications in congenital adrenal hyperplasia: first technical report.

scientific article published in April 2009

Myeloperoxidase levels and mortality in frail community-living elderly individuals.

scientific article

Non-catalytic region of tyrosine kinase adaptor protein 2 (NCK2) pathways as factor promoting aggressiveness in ovarian cancer

scientific article published on 5 December 2017

Novel BRCA1 Large Genomic Rearrangements in Italian Breast/Ovarian Cancer Patients

scientific article published in February 2019

Oncocytic Variant of Medullary Thyroid Carcinoma: A Rare Case of Sporadic Multifocal and Bilateral RET Wild-Type Neoplasm with Revision of the Literature

scientific article

PAX3d mRNA over 2.76 copies/µL in the bloodstream predicts cutaneous malignant melanoma relapse

scientific article published on 11 August 2017

PCA3 score of 20 could improve prostate cancer detection: results obtained on 734 Italian individuals.

scientific article published on 20 November 2013

PCR experion automated electrophoresis system to detect Listeria monocytogenes in foods.

scientific article published in November 2009

Performance of multiplicom's BRCA MASTR Dx kit on the detection of BRCA1 and BRCA2 mutations in fresh frozen ovarian and breast tumor samples

scientific article published on 25 October 2016

Phenotype heterogeneity of hyperbilirubinemia condition: the lesson by coinheritance of glucose-6-phosphate dehydrogenase deficiency and Crigler-Najjar syndrome type II in an Italian patient.

scientific article

Polymorphisms in base excision DNA repair genes and association with melanoma risk in a pilot study on Central-South Italian population

scientific article published on 09 June 2012

Potential usefulness of CTC detection in follow up of prostate cancer patients. A preliminary report obtained by using Adnagene platform.

scientific article published on 31 December 2013

Prospective phase II trial of trabectedin in BRCA-mutated and/or BRCAness phenotype recurrent ovarian cancer patients: the MITO 15 trial.

scientific article published on 17 December 2015

Proteomic Analysis of Salivary Acidic Proline-Rich Proteins in Human Preterm and At-Term Newborns

scientific article published on 07 March 2007

Rapid and simple identification of the commonest glucose-6-phosphate dehydrogenase (G6PD) Italian mutations: from DNA extraction to genotyping.

scientific article published on 4 February 2012

Rapid detection of CFH (p.Y402H) and ARMS2 (p.A69S) polymorphisms in age-related macular degeneration using high-resolution melting analysis

scientific article published on 13 January 2012

Recommendations for the implementation of BRCA testing in the care and treatment pathways of ovarian cancer patients

scientific article

Red blood cell PK deficiency: An update of PK-LR gene mutation database

scientific article published on 12 January 2016

Reduction of serum IGF-I levels in patients affected with Monoclonal Gammopathies of undetermined significance or Multiple Myeloma. Comparison with bFGF, VEGF and K-ras gene mutation

scientific article published on 10 March 2009

Replication of association of CHRNA4 rare variants with sporadic amyotrophic lateral sclerosis: the Italian multicentre study

scientific article

Retinal function and CFH-ARMS2 polymorphisms analysis: a pilot study in Italian AMD patients

article

Role of distinct phospholipases A2 and their modulators in meconium aspiration syndrome in human neonates

scientific article published on 13 May 2011

Sarcopenia and mortality risk in frail older persons aged 80 years and older: results from ilSIRENTE study.

scientific article published on 15 January 2013

Sarcopenia as a risk factor for falls in elderly individuals: results from the ilSIRENTE study.

scientific article published on 11 March 2012

Secretory phospholipase A2 and neonatal respiratory distress: pilot study on broncho-alveolar lavage.

scientific article published on 22 July 2008

Serum high-density lipoprotein cholesterol levels and mortality in frail, community-living elderly.

scientific article published on 15 November 2007

Serum levels of C-terminal agrin fragment (CAF) are associated with sarcopenia in older multimorbid community-dwellers: Results from the ilSIRENTE study.

scientific article

Serum levels of seven cytokines in premature ventilated newborns: correlations with old and new forms of bronchopulmonary dysplasia

scientific article published on 21 March 2006

Slight association between type 1 diabetes and "ff" VDR FokI genotype in patients from the Italian Lazio Region. Lack of association with diabetes complications

scientific article published on 26 May 2006

Surfactant and varespladib co-administration in stimulated rat alveolar macrophages culture

scientific article published on January 2013

Surfactant inadvertent loss using feeding catheters or endotracheal tubes

scientific article published on 13 May 2013

The Hemo One Autoanalyzer for Glycated Hemoglobin Assay.

scientific article published in May 2016

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

scientific article published on 3 February 2016

The first case of association between postpartum thyroiditis and thyroid hormone resistance in an Italian patient showing a novel p.V283A THRB mutation.

scientific article published on 18 March 2013

The plodding diagnosis of monogenic autoinflammatory diseases in childhood: from the clinical scenery to laboratory investigation.

scientific article published on 31 January 2011

Towards a European consensus for reporting incidental findings during clinical NGS testing

scientific article published on 3 June 2015

Upfront HIPEC and bevacizumab-containing adjuvant chemotherapy in advanced epithelial ovarian cancer

scientific article published on 09 October 2018

Use of ACE inhibitors is associated with elevated levels of IGFBP-3 among hypertensive older adults: results from the IlSIRENTE study

scientific article published on 02 February 2007

Varespladib inhibits secretory phospholipase A2 in bronchoalveolar lavage of different types of neonatal lung injury.

scientific article published on 20 May 2011

Vitamin D receptor polymorphisms and falls among older adults living in the community: results from the ilSIRENTE study.

scientific article

Worsening of the clinical-hematological picture in a patient with a rare PK-LR compound heterozygosis after mitral replacement.

scientific article

XRCC1 Arg399Gln gene polymorphism and hepatocellular carcinoma risk in the Italian population

scientific article

p.H282N and p.Y191H: 2 novel CYP21A2 mutations in Italian congenital adrenal hyperplasia patients

article

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