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List of works by Paola Concolino

A Novel Pathogenic Variant in the N-Terminal Domain of the Glucocorticoid Receptor, Causing Glucocorticoid Resistance

scientific article published on 30 June 2020

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 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 MEN1 frameshift germline mutation in two Italian monozygotic twins

article

A prolonged neonatal jaundice associated with a rare G6PD mutation.

scientific article published in September 2009

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

Association between serum free IGF-I and IGFBP-3 levels in type-I diabetes patients affected with associated autoimmune diseases or diabetic complications

scientific article published on 01 September 2006

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

scientific article published on 27 April 2007

CYP21A2 p.E238 deletion as result of multiple microconversion events: a genetic study on an Italian congenital adrenal hyperplasia (CAH) family

scientific article published in March 2013

Class III beta-tubulin overexpression is a prominent mechanism of paclitaxel resistance in ovarian cancer patients.

scientific article published in January 2005

Comparison between three molecular methods for detection of blood melanoma tyrosinase mRNA. Correlation with melanoma stages and S100B, LDH, NSE biochemical markers

scientific article published on 27 July 2005

Congenital Adrenal Hyperplasia (CAH) due to 21-Hydroxylase Deficiency: A Comprehensive Focus on 233 Pathogenic Variants of CYP21A2 Gene

scientific article published on 15 February 2018

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

Differentiated Thyroid Cancer in Two Patients with Resistance to Thyroid Hormone

scientific article published on 07 June 2011

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

First case of V281+I172N/V281L CYP21A2 genotype associated with congenital adrenal hyperplasia form. A case report from South Italy

scientific article published on 26 September 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

GSTM1-null polymorphism as possible risk marker for hypertension: results from the aging and longevity study in the Sirente Geographic Area (ilSIRENTE study).

scientific article published on 23 September 2008

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

scientific article

Gene symbol: CYP21A2. Disease: Adrenal hyperplasia

scientific article published in June 2008

Gene symbol: CYP21A2. Disease: Adrenal hyperplasia

scientific article

Gene symbol: CYP21A2. Disease: Adrenal hyperplasia

article

Gene symbol: CYP21A2. Disease: Non-classic 21-Hydroxylase deficiency

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

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

scientific article published on 28 November 2007

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

scientific article published on 25 August 2011

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

scientific article published on 23 July 2010

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

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

Interaction between GSTM1 genotype and IL-6 on mortality in older adults: results from the ilSIRENTE study

scientific article

Is there a relationship between ELF free-IGF-1 levels and fibrotic process enhancement characterizing CLD development in neutropenic premature babies?

scientific article published in March 2006

Issues with the Detection of Large Genomic Rearrangements in Molecular Diagnosis of 21-Hydroxylase Deficiency

scientific article published on 01 October 2019

Linkage between I172N mutation, a marker of 21-hydroxylase deficiency, and a single nucleotide polymorphism in Int6 of CYP21B gene: a genetic study of Sardinian family

scientific article published on 19 September 2005

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

scientific article published on 26 July 2007

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

scientific article published on August 2010

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

Mutational Landscape of Resistance to Thyroid Hormone Beta (RTHβ)

scientific article published on 01 June 2019

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

scientific article published in February 2019

Novel human pathological mutations. Gene Symbol: CYP21A2. Disease: Non-classic 21-hydroxylase deficiency

article

Novel human pathological mutations. Gene symbol: COL4A5. Disease: Alport syndrome

article

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

scientific article published on 20 November 2009

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

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

article

Reverse-hybridization assay for rapid detection of common CYP21A2 mutations in dried blood spots from newborns with elevated 17-OH progesterone.

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

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 unsolved enigma of CDH1 down-regulation in hereditary diffuse gastric cancer

scientific article published on 01 September 2004

Two novel CYP21A2 missense mutations in Italian patients with 21-hydroxylase deficiency: Identification and functional characterisation

scientific article published in March 2009

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

scientific article

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

article

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