Lista de obras - Cecilia Zuppi - Dominio Público Uruguay

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

artículo científico publicado en 2006

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

artículo científico publicado en 2009

A new CYP21A2 nonsense mutation causing severe 21-hydroxylase deficiency

artículo científico publicado en 2009

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.

artículo científico publicado en 2014

A prolonged neonatal jaundice associated with a rare G6PD mutation.

artículo científico publicado en 2009

A simple liquid chromatography-tandem mass spectrometry method for urinary free cortisol analysis: suitable for routine purpose

artículo científico publicado en 2010

A two-dimensional electrophoresis preliminary approach to human hepatocarcinoma differentiation induced by PPAR-agonists.

artículo científico publicado en 2005

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

artículo científico publicado en 2011

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

artículo científico publicado en 2008

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

artículo científico publicado en 2017

Characterization of dendrimer properties by capillary electrophoresis and their use as pseudostationary phases

artículo científico publicado en 2002

Circulating bacterial-derived DNA fragments and markers of inflammation in chronic hemodialysis patients

artículo científico publicado en 2008

Circulating endothelial cells as marker of endothelial damage in male hypogonadism

artículo científico publicado en 2012

Clinical accuracy of midnight salivary cortisol measured by automated electrochemiluminescence immunoassay method in Cushing's syndrome

artículo científico publicado en 2010

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

artículo científico publicado en 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

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

artículo científico publicado en 2014

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

article

Enhanced liver fibrosis test as a reliable tool for assessing fibrosis in nonalcoholic fatty liver disease in a clinical setting

artículo científico

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

artículo científico publicado en 2006

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.

artículo científico publicado en 2010

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

artículo científico publicado en 2006

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

artículo científico publicado en 2013

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

artículo científico publicado en 2012

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

artículo científico publicado en 2007

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

artículo científico publicado en 2009

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

artículo científico publicado en 2011

How the "A" to "C" conversion may create a new splice acceptor site?

artículo científico publicado en 2010

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

artículo científico publicado en 2017

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

artículo científico publicado en 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

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

artículo científico publicado en 2008

Insulin-like growth factor-1 as a vascular protective factor

artículo científico publicado en 2004

Insulin-like growth factor-I and complications of prematurity: a focus on bronchopulmonary dysplasia

artículo científico publicado en 2008

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

artículo científico publicado en 2006

Is intraoperative calcitonin monitoring useful to modulate the extension of neck dissection in patients with medullary thyroid carcinoma?

artículo científico publicado en 2014

Molecular diagnosis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency: an update of new CYP21A2 mutations

artículo científico publicado en 2010

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

article

Nasal fluid release of eotaxin-3 and eotaxin-2 in persistent sinonasal eosinophilic inflammation.

artículo científico publicado en 2014

Nasal lavage levels of granulocyte-macrophage colony-stimulating factor and chronic nasal hypereosinophilia

artículo científico publicado en 2015

Oxidative stress, nitric oxide, and diabetes

artículo científico publicado en 2010

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.

artículo científico publicado en 2012

Rapid UGT1A1 (TA)(n) genotyping by high resolution melting curve analysis for Gilbert's syndrome diagnosis

artículo científico publicado en 2009

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

artículo científico publicado en 2012

Relation between nitric oxide metabolites and haemoglobin concentrations in patients with ischaemic heart disease

artículo científico publicado en 2007

Role of asymmetric-dimethyl-L-arginine (ADMA) and nitrite/nitrate (NOx) in the pathogenesis of oxidative stress in female subjects with uncomplicated type 1 diabetes mellitus

artículo científico publicado en 2009

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

artículo científico publicado en 2011

Simultaneous quantification of 17-hydroxyprogesterone, androstenedione, testosterone and cortisol in human serum by LC-MS/MS using TurboFlow online sample extraction

artículo científico publicado en 2016

Total 25-hydroxyvitamin D determination by an entry level triple quadrupole instrument: comparison between two commercial kits

artículo científico publicado en 2013

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

artículo científico publicado en 2011

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

artículo científico publicado en 2011

Lista de obras de Cecilia Zuppi

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

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

A new CYP21A2 nonsense mutation causing severe 21-hydroxylase deficiency

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.

A prolonged neonatal jaundice associated with a rare G6PD mutation.

A simple liquid chromatography-tandem mass spectrometry method for urinary free cortisol analysis: suitable for routine purpose

A two-dimensional electrophoresis preliminary approach to human hepatocarcinoma differentiation induced by PPAR-agonists.

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

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

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

Characterization of dendrimer properties by capillary electrophoresis and their use as pseudostationary phases

Circulating bacterial-derived DNA fragments and markers of inflammation in chronic hemodialysis patients

Circulating endothelial cells as marker of endothelial damage in male hypogonadism

Clinical accuracy of midnight salivary cortisol measured by automated electrochemiluminescence immunoassay method in Cushing's syndrome

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

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

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

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

Enhanced liver fibrosis test as a reliable tool for assessing fibrosis in nonalcoholic fatty liver disease in a clinical setting

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

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

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

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

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

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

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

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

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

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

How the "A" to "C" conversion may create a new splice acceptor site?

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

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

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

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

Insulin-like growth factor-1 as a vascular protective factor

Insulin-like growth factor-I and complications of prematurity: a focus on bronchopulmonary dysplasia

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

Is intraoperative calcitonin monitoring useful to modulate the extension of neck dissection in patients with medullary thyroid carcinoma?

Molecular diagnosis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency: an update of new CYP21A2 mutations

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

Nasal fluid release of eotaxin-3 and eotaxin-2 in persistent sinonasal eosinophilic inflammation.

Nasal lavage levels of granulocyte-macrophage colony-stimulating factor and chronic nasal hypereosinophilia

Oxidative stress, nitric oxide, and diabetes

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.

Rapid UGT1A1 (TA)(n) genotyping by high resolution melting curve analysis for Gilbert's syndrome diagnosis

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

Relation between nitric oxide metabolites and haemoglobin concentrations in patients with ischaemic heart disease

Role of asymmetric-dimethyl-L-arginine (ADMA) and nitrite/nitrate (NOx) in the pathogenesis of oxidative stress in female subjects with uncomplicated type 1 diabetes mellitus

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

Simultaneous quantification of 17-hydroxyprogesterone, androstenedione, testosterone and cortisol in human serum by LC-MS/MS using TurboFlow online sample extraction

Total 25-hydroxyvitamin D determination by an entry level triple quadrupole instrument: comparison between two commercial kits

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

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