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List of works by Angelo Minucci

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 combination of infrared spectroscopy and morphological analysis allows successfully identifying rare crystals and atypical urinary stones

scientific article published on 01 July 2019

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

scientific article published on 17 September 2016

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

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

Alterations of energy metabolism and glutathione levels of HL-60 cells induced by methacrylates present in composite resins.

scientific article published on 18 September 2006

Analytical evaluation of a new immunonephelometric method for homocysteine measurement.

scientific article

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

scientific article published on 20 August 2018

BRCA testing delay during the COVID-19 pandemic: How to act?

scientific article published on 12 December 2020

BRCA testing in a genomic diagnostics referral center during the COVID-19 pandemic

scientific article published on 09 May 2020

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

scientific article published on 14 October 2008

CYP24A1 and SLC34A1 genetic defects associated with idiopathic infantile hypercalcemia: from genotype to phenotype

scientific article published on 01 October 2019

Can somatic BRCA2 status solve a case of olaparib monotherapy resistance?

scientific article published on 19 September 2019

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

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

Comparing different methods for homocysteine determination.

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

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

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

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

scientific article

Effect of cigarette smoke extract on the polymorphonuclear leukocytes chemiluminescence: influence of a filter containing glutathione.

scientific article published in March 2005

Effect of cooling on lung secretory phospholipase A2 activity in vitro, ex vivo, and in vivo

scientific article published on 03 January 2019

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

Elevated levels of plasma homocysteine in postmenopausal women in Burkina Faso

scientific article published in January 2005

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 a new enzymatic method for homocysteine measurement.

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

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

scientific article published on 16 July 2010

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

scientific 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

HPLC analysis of some sulphur compounds in saliva: comparison between healthy subjects and periodontopathic patients.

scientific article published in December 2003

Hereditary Hypercalcemia Caused by a Homozygous Pathogenic Variant in the Gene: A Case Report and Review of the Literature

article

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

High resolution melting profiles (HRMPs) obtained by magnetic induction cycler (MIC) have been used to monitor the BRCA2 status highlighted by next generation tumor sequencing (NGTS): a combined approach in a diagnostic environment

scientific article published on 28 May 2020

High-resolution melting analysis coupled with next-generation sequencing as a simple tool for the identification of a novel somatic BRCA2 variant: a case report.

scientific article

High-resolution melting analysis to screen the ST18 gene functional risk variant for pemphigus vulgaris: The occasion to open a debate on its usefulness in clinical setting

scientific article published on 26 March 2019

Homocysteine lowering by folate-rich diet or pharmacological supplementations in subjects with moderate hyperhomocysteinemia.

scientific article published on 08 May 2013

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 and in silico characterization of a novel PKLR genotype in a Turkish newborn

scientific article published on 24 September 2020

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

Inhibition of salivary enzymes by cigarette smoke and the protective role of glutathione.

scientific article published in January 2002

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 homocysteine a pro-oxidant?

scientific article published in November 2001

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

scientific article published on 19 July 2018

Molecular basis of favism triggered by ingestion of frozen pumpkin cross-contaminated with fava beans

scientific article published on 29 May 2019

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

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

article

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

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

scientific article published in November 2009

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

Preliminary molecular evidence associating a novel BRCA1 synonymous variant with hereditary ovarian cancer syndrome.

scientific article published on 20 April 2018

Prognostic factors value of germline and somatic brca in patients undergoing surgery for recurrent ovarian cancer with liver metastases

scientific article published on 13 June 2019

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

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

scientific article published on 12 January 2016

Report of an Italian family carrying a typical Indian variant of the Nilgiris tribal groups resulting from a de novo occurrence.

scientific article published on 4 January 2018

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

scientific article published on 13 May 2011

Salivary glutathione and uric acid levels in patients with head and neck squamous cell carcinoma.

scientific article published in July 2007

Salivary thiols and enzyme markers of cell damage in periodontal disease.

scientific article published on 26 January 2007

Serum folate and homocysteine levels in head and neck squamous cell carcinoma.

scientific article published in February 2002

Serum levels of folate, homocysteine, and vitamin B12 in head and neck squamous cell carcinoma and in laryngeal leukoplakia.

scientific article published in January 2005

Spliceogenic analysis of BRCA1 c.439T>C (rs794727800) variant by High Resolution Melting Analysis

scientific article published on 12 December 2019

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

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

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

scientific article

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