List of works - Gabriella Esposito

A 15-year case-mix experience for fragile X syndrome molecular diagnosis and comparison between conventional and alternative techniques leading to a novel diagnostic procedure.

scientific article published on 29 December 2012

A putative frameshift variant in the CHM gene is associated with an unexpected splicing alteration in a choroideremia patient

scientific article published on 19 September 2020

A unique origin for Sicilian (??)?-thalassemia in 33 unrelated families and its rapid diagnostic characterization by PCR analysis

scientific article published on 01 June 1994

Aminotransferases and muscular diseases: a disregarded lesson. Case reports and review of the literature

scientific article published on 24 May 2010

Autosomal recessive congenital ichthyosis and congenital hypothyroidism in a Tunisian patient with a nonsense mutation in TGM1

scientific article published on 24 June 2009

Comprehensive mutation analysis (20 families) of the choroideremia gene reveals a missense variant that prevents the binding of REP1 with rab geranylgeranyl transferase

article

Daily Fructose Traces Intake and Liver Injury in Children with Hereditary Fructose Intolerance

scientific article published on 07 October 2019

Fatty liver disease and hypertransaminasemia hiding the association of clinically silent Duchenne muscular dystrophy and hereditary fructose intolerance

scientific article published on 31 October 2012

Formyl Peptide Receptor 1 Modulates Endothelial Cell Functions by NADPH Oxidase-Dependent VEGFR2 Transactivation.

scientific article

Functional and molecular modelling studies of two hereditary fructose intolerance-causing mutations at arginine 303 in human liver aldolase

scientific article (publication date: 15 September 2000)

Genetic characterization of Italian patients with Bardet-Biedl syndrome and correlation to ocular, renal and audio-vestibular phenotype: identification of eleven novel pathogenic sequence variants.

scientific article

Human aldolase A natural mutants: relationship between flexibility of the C-terminal region and enzyme function

scientific article

Metabolic Alterations in Cardiomyocytes of Patients with Duchenne and Becker Muscular Dystrophies

scientific article published on 05 December 2019

Multi-Gene Next-Generation Sequencing for Molecular Diagnosis of Autosomal Recessive Congenital Ichthyosis: A Genotype-Phenotype Study of Four Italian Patients

scientific article published on 24 November 2020

Nuclear localization of Formyl-Peptide Receptor 2 in human cancer cells

scientific article published on 10 May 2016

Phosphorylation Sites in Protein Kinases and Phosphatases Regulated by Formyl Peptide Receptor 2 Signaling

scientific article published on 27 May 2020

Photoletter to the editor: Lamellar ichthyosis and arthrogryposis in a premature neonate

scientific article published on 30 June 2015

Precise mapping of 17 deletion breakpoints within the central hotspot deletion region (introns 50 and 51) of the DMD gene

scientific article

Prenatal molecular diagnosis of inherited neuromuscular diseases: Duchenne/Becker muscular dystrophy, myotonic dystrophy type 1 and spinal muscular atrophy.

scientific article published in December 2013

Protein network study of human AF4 reveals its central role in RNA Pol II-mediated transcription and in phosphorylation-dependent regulatory mechanisms.

scientific article

SLC26A4 genotypes associated with enlarged vestibular aqueduct malformation in south Italian children with sensorineural hearing loss

scientific article published on 19 February 2016

Six novel alleles identified in Italian hereditary fructose intolerance patients enlarge the mutation spectrum of the aldolase B gene.

scientific article published in December 2004

Structural and functional analysis of aldolase B mutants related to hereditary fructose intolerance

scientific article (publication date: 6 November 2002)

Transglutaminase 1 deficiency and corneocyte collapse: an indication for targeted molecular screening in autosomal recessive congenital ichthyosis

scientific article published on 16 July 2007

Transglutaminase 1 gene mutations in Italian patients with autosomal recessive lamellar ichthyosis

scientific article published in May 2001

Unraveling unusual X-chromosome patterns during fragile-X syndrome genetic testing.

scientific article published on 20 November 2017

List of works by Gabriella Esposito

A 15-year case-mix experience for fragile X syndrome molecular diagnosis and comparison between conventional and alternative techniques leading to a novel diagnostic procedure.

A putative frameshift variant in the CHM gene is associated with an unexpected splicing alteration in a choroideremia patient

A unique origin for Sicilian (??)?-thalassemia in 33 unrelated families and its rapid diagnostic characterization by PCR analysis

Aminotransferases and muscular diseases: a disregarded lesson. Case reports and review of the literature

Autosomal recessive congenital ichthyosis and congenital hypothyroidism in a Tunisian patient with a nonsense mutation in TGM1

Comprehensive mutation analysis (20 families) of the choroideremia gene reveals a missense variant that prevents the binding of REP1 with rab geranylgeranyl transferase

Daily Fructose Traces Intake and Liver Injury in Children with Hereditary Fructose Intolerance

Fatty liver disease and hypertransaminasemia hiding the association of clinically silent Duchenne muscular dystrophy and hereditary fructose intolerance

Formyl Peptide Receptor 1 Modulates Endothelial Cell Functions by NADPH Oxidase-Dependent VEGFR2 Transactivation.

Functional and molecular modelling studies of two hereditary fructose intolerance-causing mutations at arginine 303 in human liver aldolase

Genetic characterization of Italian patients with Bardet-Biedl syndrome and correlation to ocular, renal and audio-vestibular phenotype: identification of eleven novel pathogenic sequence variants.

Human aldolase A natural mutants: relationship between flexibility of the C-terminal region and enzyme function

Metabolic Alterations in Cardiomyocytes of Patients with Duchenne and Becker Muscular Dystrophies

Multi-Gene Next-Generation Sequencing for Molecular Diagnosis of Autosomal Recessive Congenital Ichthyosis: A Genotype-Phenotype Study of Four Italian Patients

Nuclear localization of Formyl-Peptide Receptor 2 in human cancer cells

Phosphorylation Sites in Protein Kinases and Phosphatases Regulated by Formyl Peptide Receptor 2 Signaling

Photoletter to the editor: Lamellar ichthyosis and arthrogryposis in a premature neonate

Precise mapping of 17 deletion breakpoints within the central hotspot deletion region (introns 50 and 51) of the DMD gene

Prenatal molecular diagnosis of inherited neuromuscular diseases: Duchenne/Becker muscular dystrophy, myotonic dystrophy type 1 and spinal muscular atrophy.

Protein network study of human AF4 reveals its central role in RNA Pol II-mediated transcription and in phosphorylation-dependent regulatory mechanisms.

SLC26A4 genotypes associated with enlarged vestibular aqueduct malformation in south Italian children with sensorineural hearing loss

Six novel alleles identified in Italian hereditary fructose intolerance patients enlarge the mutation spectrum of the aldolase B gene.

Structural and functional analysis of aldolase B mutants related to hereditary fructose intolerance

Transglutaminase 1 deficiency and corneocyte collapse: an indication for targeted molecular screening in autosomal recessive congenital ichthyosis

Transglutaminase 1 gene mutations in Italian patients with autosomal recessive lamellar ichthyosis

Unraveling unusual X-chromosome patterns during fragile-X syndrome genetic testing.