About: Angelo Minucci

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researcher

Attributes	Values
rdf:type	Item
description	researcher (en) 研究者 (ja) wetenschapper (nl) дослідник (uk) 研究者 (zh) հետազոտող (hy)
rdfs:label	Angelo Minucci (en) Angelo Minucci (es) Angelo Minucci (it) Angelo Minucci (nl) Angelo Minucci (ast)
skos:prefLabel	Angelo Minucci (en) Angelo Minucci (es) Angelo Minucci (it) Angelo Minucci (nl) Angelo Minucci (ast)
name	Angelo Minucci (en) Angelo Minucci (es) Angelo Minucci (it) Angelo Minucci (nl) Angelo Minucci (ast)
Scopus author ID	wds:Q62016542-70833EB2-0DCA-4D63-B8DF-FA7758AFA631
Scopus author ID	6603278231
given name	wds:Q62016542-2CDD44BA-B6B2-4352-BDD3-B114E4FCB8FA
given name	Angelo
instance of	wds:Q62016542-665DE438-0A10-4A4D-9EA1-F9452973DA31
instance of	Homo sapiens
occupation	wds:Q62016542-4EDF14FD-F522-4A37-8055-712F513F774E
sex or gender	wds:Q62016542-4D65FC1F-46B9-43A1-BD86-537C16697F87
on focus list of Wikimedia project	wds:Q62016542-5DF4E661-F75C-4918-9843-CAE0A0ABE128
family name	wds:Q62016542-07732424-E05A-46C9-938A-9B060F23D672
occupation	researcher
sex or gender	male
on focus list of Wikimedia project	WikiProject COVID-19
family name	Minucci
ORCID iD	wds:Q62016542-DD71222F-4AB8-49B4-8288-116F561464A8
ORCID iD	https://orcid.org/0000-0002-0833-4334
ORCID iD	0000-0002-0833-4334
PubliCatt author ID	wds:Q62016542-CDE1828B-4A35-43C7-BA80-3260C650982C
PubliCatt author ID	02253
ResearcherID	wds:Q62016542-EAD083F0-64E0-415B-BBE3-7E34509EEFFC
ResearcherID	B-3015-2019
is about of	https://www.wikidata.org/wiki/Special:EntityData/Q62016542
is author of	Gilbert and Crigler Najjar syndromes: an update of the UDP-glucuronosyltransferase 1A1 (UGT1A1) gene mutation database. 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. Glucose-6-phosphate dehydrogenase laboratory assay: How, when, and why? Glucose-6-phosphate dehydrogenase (G6PD) mutations database: review of the "old" and update of the new mutations. Elevated levels of plasma homocysteine in postmenopausal women in Burkina Faso Analytical evaluation of a new immunonephelometric method for homocysteine measurement. Bile acids cause secretory phospholipase A2 activity enhancement, revertible by exogenous surfactant administration. Red blood cell PK deficiency: An update of PK-LR gene mutation database Free insulin-like growth factor-I and cognitive function in older persons living in community Serum folate and homocysteine levels in head and neck squamous cell carcinoma. Serum levels of folate, homocysteine, and vitamin B12 in head and neck squamous cell carcinoma and in laryngeal leukoplakia. A novel CYP24A1 genotype associated to a clinical picture of hypercalcemia, nephrolithiasis and low bone mass. Role of distinct phospholipases A2 and their modulators in meconium aspiration syndrome in human neonates Salivary glutathione and uric acid levels in patients with head and neck squamous cell carcinoma. Clinical and biological role of secretory phospholipase A2 in acute respiratory distress syndrome infants Use of ACE inhibitors is associated with elevated levels of IGFBP-3 among hypertensive older adults: results from the IlSIRENTE study Inhibition of salivary enzymes by cigarette smoke and the protective role of glutathione. Functional analysis of two rare CYP21A2 mutations detected in Italian patients with a mildest form of congenital adrenal hyperplasia A new CYP21A2 nonsense mutation causing severe 21-hydroxylase deficiency Epithelial lining fluid free IGF-I-to-PAPP-A ratio is associated with bronchopulmonary dysplasia in preterm infants Acute haemolytic crisis due to concomitant presence of infection and possible altered acetaminophen catabolism in a Philipino child carrying the G6PD-Vanua Lava mutation. Evaluation of a new enzymatic method for homocysteine measurement. 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. Characterization of a new BRCA1 rearrangement in an Italian woman with hereditary breast and ovarian cancer syndrome. Homocysteine lowering by folate-rich diet or pharmacological supplementations in subjects with moderate hyperhomocysteinemia. Hereditary Hypercalcemia Caused by a Homozygous Pathogenic Variant in the Gene: A Case Report and Review of the Literature A rapid screening of a recurrent CYP24A1 pathogenic variant opens the way to molecular testing for Idiopathic Infantile Hypercalcemia (IIH) Genes, pseudogenes and like genes: the case of 21-hydroxylase in Italian population. Contribution of the TA repeats on melting temperature (T(m)) in a double strand DNA: comparison of two methods and implications in molecular diagnostics A case of patient affected by hirsutism carrying the P482S CYP21 gene mutation associated with loss of heterozygosity (LOH). Can somatic BRCA2 status solve a case of olaparib monotherapy resistance? Multiplex Ligation-Dependent Probe Amplification Analysis Is Useful for Diagnosing Congenital Adrenal Hyperplasia but Requires a Deep Knowledge of CYP21A2 Genetics Surfactant inadvertent loss using feeding catheters or endotracheal tubes Varespladib inhibits secretory phospholipase A2 in bronchoalveolar lavage of different types of neonatal lung injury. A new CYP21A1P/CYP21A2 chimeric gene identified in an Italian woman suffering from classical congenital adrenal hyperplasia form Rapid and simple identification of the commonest glucose-6-phosphate dehydrogenase (G6PD) Italian mutations: from DNA extraction to genotyping. HPLC analysis of some sulphur compounds in saliva: comparison between healthy subjects and periodontopathic patients. Salivary thiols and enzyme markers of cell damage in periodontal disease. Effect of whole body hypothermia on inflammation and surfactant function in asphyxiated neonates. Inverse correlation between serum free IGF-I and IGFBP-3 levels and blood pressure in patients affected with type 1 diabetes PCR experion automated electrophoresis system to detect Listeria monocytogenes in foods. Drug-eluting stents in a patient with favism: is the aspirin administration safe? Is homocysteine a pro-oxidant? Glucose-6-phosphate dehydrogenase Buenos Aires: a novel de novo missense mutation associated with severe enzyme deficiency. Is capillary electrophoresis on microchip devices able to genotype uridine diphosphate glucuronosyltransferase 1A1 TATA-box polymorphisms? Co-inheritance of G6PD and PK deficiencies in a neonate carrying a Novel UGT1A1 genotype associated to Crigler-Najjar type II syndrome. Surfactant and varespladib co-administration in stimulated rat alveolar macrophages culture Identification of RFLP G6PD mutations by using microcapillary electrophoretic chips (Experion). Alterations of energy metabolism and glutathione levels of HL-60 cells induced by methacrylates present in composite resins. Additional molecular and clinical evidence open the way to definitive IARC classification of the BRCA1 c.5332G > A (p.Asp1778Asn) variant A comprehensive BRCA1/2 NGS pipeline for an immediate Copy Number Variation (CNV) detection in breast and ovarian cancer molecular diagnosis. Clinical impact on ovarian cancer patients of massive parallel sequencing for BRCA mutation detection: the experience at Gemelli hospital and a literature review. Advanced tools for BRCA1/2 mutational screening: comparison between two methods for large genomic rearrangements (LGRs) detection. Preliminary molecular evidence associating a novel BRCA1 synonymous variant with hereditary ovarian cancer syndrome. Comparing different methods for homocysteine determination. Identification of twenty-nine novel germline unclassified variants of BRCA1 and BRCA2 genes in 1400 Italian individuals.

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