List of works - Nicoletta Resta

A homozygous frameshift mutation in the ESCO2 gene: evidence of intertissue and interindividual variation in Nmd efficiency.

scientific article

A large interstitial deletion encompassing the amelogenin gene on the short arm of the Y chromosome

scientific article published on 22 February 2005

A long diagnostic delay in patients with Hereditary Haemorrhagic Telangiectasia: a questionnaire-based retrospective study

scientific article

A rare MSH2 mutation causes defective binding to hMSH6, normal hMSH2 staining, and loss of hMSH6 at advanced cancer stage

scientific article published on 30 June 2014

A silent mutation in exon 14 of the APC gene is associated with exon skipping in a FAP family

scientific article

Accurate Classification of NF1 Gene Variants in 84 Italian Patients with Neurofibromatosis Type 1.

scientific article published on 17 April 2018

Allele frequencies of the new European Standard Set (ESS) loci in a population of Apulia (Southern Italy).

scientific article published on 3 November 2012

An LKB1 AT-AC intron mutation causes Peutz-Jeghers syndrome via splicing at noncanonical cryptic splice sites

scientific article published on 19 December 2004

Analysis of telomere dynamics in peripheral blood cells from patients with Lynch syndrome

scientific article published on 08 March 2011

Analysis of the LKB1-STRAD-MO25 complex

scientific article

Association of autoimmune thyroiditis and celiac disease with Juvenile Polyposis due to 10q23.1q23.31 deletion: Potential role of PI3K/Akt pathway dysregulation

scientific article

Association of beta-adrenergic receptor polymorphisms and progression to heart failure in patients with idiopathic dilated cardiomyopathy.

scientific article published in October 2004

Blocking p38/ERK crosstalk affects colorectal cancer growth by inducing apoptosis in vitro and in preclinical mouse models ⬇️

scientific article published on May 11, 2012

Breakpoint determination of 15 large deletions in Peutz-Jeghers subjects.

scientific article

COQ4 mutations cause a broad spectrum of mitochondrial disorders associated with CoQ10 deficiency

scientific article

Cancer risk associated with STK11/LKB1 germline mutations in Peutz-Jeghers syndrome patients: results of an Italian multicenter study.

scientific article published on 15 February 2013

Cancer risks in LKB1 germline mutation carriers.

scientific article published on 11 January 2006

Characterization of the rs2802292 SNP identifies FOXO3A as a modifier locus predicting cancer risk in patients with PJS and PHTS hamartomatous polyposis syndromes

scientific article

Chromosomal microarray (CMA) analysis in infants with congenital anomalies: when is it really helpful?

scientific article published on October 2012

Clinical and functional characterization of a novel mutation in lamin a/c gene in a multigenerational family with arrhythmogenic cardiac laminopathy

scientific article (publication date: 2015)

Clinical findings in a family with familial adenomatous polyposis and a missense mutation of the adenomatous polyposis coli gene.

scientific article

Corrigendum to "Development of an Italian RM Y-STR haplotype database: Results of the 2013 GEFI collaborative exercise" [Forensic. Sci. Int. Genet. 15 (2015) 56-63].

scientific article published on 7 February 2018

DHPLC-based mutation analysis of ENG and ALK-1 genes in HHT Italian population.

scientific article published in February 2006

De novo unbalanced translocation leading to monosomy 9p24.3p24.1 and trisomy 19q13.42q13.43 characterized by microarray-based comparative genomic hybridization in a child with partial cortical dysplasia and craniofacial dysmorphisms without trigonoce

scientific article published on 07 February 2013

Development of an Italian RM Y-STR haplotype database: Results of the 2013 GEFI collaborative exercise

scientific article (publication date: March 2015)

Endoglin gene mutations and polymorphisms in Italian patients with hereditary haemorrhagic telangiectasia.

scientific article

Familial adenomatous polyposis: identification of a new frameshift mutation of the APC gene in an Italian family

scientific article published on 01 May 1992

First evidence of a therapeutic effect of miransertib in a teenager with Proteus syndrome and ovarian carcinoma

scientific article published on 06 May 2019

Functional analysis of LKB1/STK11 mutants and two aberrant isoforms found in Peutz-Jeghers Syndrome patients.

scientific article published on February 2003

Functional evidence of mTORβ splice variant involvement in the pathogenesis of congenital heart defects

scientific article published on 24 November 2020

Gait disturbance and lower limb pain in a patient with PIK3CA-related disorder.

scientific article published on 31 August 2017

Germline pathogenic variant in PIK3CA leading to symmetrical overgrowth with marked macrocephaly and mild global developmental delay

scientific article published on 09 July 2019

Hereditary hemorrhagic telangiectasia: arteriovenous malformations in children.

scientific article published on 25 March 2013

Identification and surveillance of 19 Lynch syndrome families in southern Italy: report of six novel germline mutations and a common founder mutation

article

In silico and in vivo splicing analysis of MLH1 and MSH2 missense mutations shows exon- and tissue-specific effects.

scientific article

In vitro efficacy of ARQ 092, an allosteric AKT inhibitor, on primary fibroblast cells derived from patients with PIK3CA-related overgrowth spectrum (PROS).

scientific article published on 16 March 2018

Involvement of PTEN mutations in the genetic pathways of colorectal cancerogenesis

scientific article published on 01 January 2000

Limb hypertrophy: a skin vascular malformation and bilateral hydroureteronephrosis in a neonate

scientific article published on 28 February 2018

Loss of STK11 expression is an early event in prostate carcinogenesis and predicts therapeutic response to targeted therapy against MAPK/p38.

scientific article

Molecular and Functional Characterization of Three Different Postzygotic Mutations in PIK3CA-Related Overgrowth Spectrum (PROS) Patients: Effects on PI3K/AKT/mTOR Signaling and Sensitivity to PIK3 Inhibitors.

scientific article published on 27 April 2015

Molecular and clinical characteristics in 46 families affected with Peutz-Jeghers syndrome

scientific article published on 03 April 2007

Molecular genetic analysis in a case of ganglioglioma: identification of a new mutation.

scientific article published in November 2008

Novel splice isoforms of STRADalpha differentially affect LKB1 activity, complex assembly and subcellular localization.

scientific article

Old treatments for new genetic conditions: Sirolimus therapy in a child affected by mosaic overgrowth with fibroadipose hyperplasia

scientific article published on 22 April 2019

Parallelism of DOG1 expression with recurrence risk in gastrointestinal stromal tumors bearing KIT or PDGFRA mutations

scientific article published in January 2015

Phosphatase and tensin homolog (PTEN) gene mutations and autism: literature review and a case report of a patient with Cowden syndrome, autistic disorder, and epilepsy

scientific article published on 29 September 2011

SCE frequency measurement could be useful in the prenatal diagnosis of Roberts syndrome.

scientific article published in August 2007

Stat3-positive tumor cells contribute to vessels neoformation in primary central nervous system lymphoma

scientific article

Survey of KRAS, BRAF and PIK3CA mutational status in 209 consecutive Italian colorectal cancer patients.

scientific article published in October 2012

The 2011 GeFI collaborative exercise. Concordance study, proficiency testing and Italian population data on the new ENFSI/EDNAP loci D1S1656, D2S441, D10S1248, D12S391, D22S1045.

scientific article

The Italian National External quality assessment program in molecular genetic testing: results of the VII round (2010-2011).

scientific article published on 29 January 2013

The Italian external quality control program for familial adenomatous polyposis of the colon: five years of experience

scientific article

The association of adrenocortical carcinoma and thyroid cancer in a child with Peutz-Jeghers syndrome.

scientific article published on March 2011

The familial adenomatous polyposis region exhibits many different haplotypes

scientific article published on 01 June 1998

The molecular characterization of a depurinated trial DNA sample can be a model to understand the reliability of the results in forensic genetics.

scientific article published on 31 October 2014

The proliferative response of HT-29 human colon adenocarcinoma cells to bombesin-like peptides.

scientific article

Trisomy 13 mosaicism in a phenotypically normal child: Description of cytogenetic and clinical findings from early pregnancy beyond 2 years of age

scientific article published on 01 March 2007

Two novel cases of compound heterozygous mutations in mitofusin2: Finding out the inheritance.

scientific article published on 17 January 2017

Two novel mutations and a new STK11/LKB1 gene isoform in Peutz-Jeghers patients.

scientific article

WITHDRAWN: Corrigendum to ‘Development of an Italian RM Y-STR haplotype database: results of the 2013 GEFI collaborative exercise’ [Forensic. Sci. Int. Genet. 15 (2015) 56-63]

retracted article

Y-chromosome haplotypes in Italy: the GEFI collaborative database

article

List of works by Nicoletta Resta

A homozygous frameshift mutation in the ESCO2 gene: evidence of intertissue and interindividual variation in Nmd efficiency.

A large interstitial deletion encompassing the amelogenin gene on the short arm of the Y chromosome

A long diagnostic delay in patients with Hereditary Haemorrhagic Telangiectasia: a questionnaire-based retrospective study

A rare MSH2 mutation causes defective binding to hMSH6, normal hMSH2 staining, and loss of hMSH6 at advanced cancer stage

A silent mutation in exon 14 of the APC gene is associated with exon skipping in a FAP family

Accurate Classification of NF1 Gene Variants in 84 Italian Patients with Neurofibromatosis Type 1.

Allele frequencies of the new European Standard Set (ESS) loci in a population of Apulia (Southern Italy).

An LKB1 AT-AC intron mutation causes Peutz-Jeghers syndrome via splicing at noncanonical cryptic splice sites

Analysis of telomere dynamics in peripheral blood cells from patients with Lynch syndrome

Analysis of the LKB1-STRAD-MO25 complex

Association of autoimmune thyroiditis and celiac disease with Juvenile Polyposis due to 10q23.1q23.31 deletion: Potential role of PI3K/Akt pathway dysregulation

Association of beta-adrenergic receptor polymorphisms and progression to heart failure in patients with idiopathic dilated cardiomyopathy.

Blocking p38/ERK crosstalk affects colorectal cancer growth by inducing apoptosis in vitro and in preclinical mouse models ⬇️

Breakpoint determination of 15 large deletions in Peutz-Jeghers subjects.

COQ4 mutations cause a broad spectrum of mitochondrial disorders associated with CoQ10 deficiency

Cancer risk associated with STK11/LKB1 germline mutations in Peutz-Jeghers syndrome patients: results of an Italian multicenter study.

Cancer risks in LKB1 germline mutation carriers.

Characterization of the rs2802292 SNP identifies FOXO3A as a modifier locus predicting cancer risk in patients with PJS and PHTS hamartomatous polyposis syndromes

Chromosomal microarray (CMA) analysis in infants with congenital anomalies: when is it really helpful?

Clinical and functional characterization of a novel mutation in lamin a/c gene in a multigenerational family with arrhythmogenic cardiac laminopathy

Clinical findings in a family with familial adenomatous polyposis and a missense mutation of the adenomatous polyposis coli gene.

Corrigendum to "Development of an Italian RM Y-STR haplotype database: Results of the 2013 GEFI collaborative exercise" [Forensic. Sci. Int. Genet. 15 (2015) 56-63].

DHPLC-based mutation analysis of ENG and ALK-1 genes in HHT Italian population.

De novo unbalanced translocation leading to monosomy 9p24.3p24.1 and trisomy 19q13.42q13.43 characterized by microarray-based comparative genomic hybridization in a child with partial cortical dysplasia and craniofacial dysmorphisms without trigonoce

Development of an Italian RM Y-STR haplotype database: Results of the 2013 GEFI collaborative exercise

Endoglin gene mutations and polymorphisms in Italian patients with hereditary haemorrhagic telangiectasia.

Familial adenomatous polyposis: identification of a new frameshift mutation of the APC gene in an Italian family

First evidence of a therapeutic effect of miransertib in a teenager with Proteus syndrome and ovarian carcinoma

Functional analysis of LKB1/STK11 mutants and two aberrant isoforms found in Peutz-Jeghers Syndrome patients.

Functional evidence of mTORβ splice variant involvement in the pathogenesis of congenital heart defects

Gait disturbance and lower limb pain in a patient with PIK3CA-related disorder.

Germline pathogenic variant in PIK3CA leading to symmetrical overgrowth with marked macrocephaly and mild global developmental delay

Hereditary hemorrhagic telangiectasia: arteriovenous malformations in children.

Identification and surveillance of 19 Lynch syndrome families in southern Italy: report of six novel germline mutations and a common founder mutation

In silico and in vivo splicing analysis of MLH1 and MSH2 missense mutations shows exon- and tissue-specific effects.

In vitro efficacy of ARQ 092, an allosteric AKT inhibitor, on primary fibroblast cells derived from patients with PIK3CA-related overgrowth spectrum (PROS).

Involvement of PTEN mutations in the genetic pathways of colorectal cancerogenesis

Limb hypertrophy: a skin vascular malformation and bilateral hydroureteronephrosis in a neonate

Loss of STK11 expression is an early event in prostate carcinogenesis and predicts therapeutic response to targeted therapy against MAPK/p38.

Molecular and Functional Characterization of Three Different Postzygotic Mutations in PIK3CA-Related Overgrowth Spectrum (PROS) Patients: Effects on PI3K/AKT/mTOR Signaling and Sensitivity to PIK3 Inhibitors.

Molecular and clinical characteristics in 46 families affected with Peutz-Jeghers syndrome

Molecular genetic analysis in a case of ganglioglioma: identification of a new mutation.

Novel splice isoforms of STRADalpha differentially affect LKB1 activity, complex assembly and subcellular localization.

Old treatments for new genetic conditions: Sirolimus therapy in a child affected by mosaic overgrowth with fibroadipose hyperplasia

Parallelism of DOG1 expression with recurrence risk in gastrointestinal stromal tumors bearing KIT or PDGFRA mutations

Phosphatase and tensin homolog (PTEN) gene mutations and autism: literature review and a case report of a patient with Cowden syndrome, autistic disorder, and epilepsy

SCE frequency measurement could be useful in the prenatal diagnosis of Roberts syndrome.

Stat3-positive tumor cells contribute to vessels neoformation in primary central nervous system lymphoma

Survey of KRAS, BRAF and PIK3CA mutational status in 209 consecutive Italian colorectal cancer patients.

The 2011 GeFI collaborative exercise. Concordance study, proficiency testing and Italian population data on the new ENFSI/EDNAP loci D1S1656, D2S441, D10S1248, D12S391, D22S1045.

The Italian National External quality assessment program in molecular genetic testing: results of the VII round (2010-2011).

The Italian external quality control program for familial adenomatous polyposis of the colon: five years of experience

The association of adrenocortical carcinoma and thyroid cancer in a child with Peutz-Jeghers syndrome.

The familial adenomatous polyposis region exhibits many different haplotypes

The molecular characterization of a depurinated trial DNA sample can be a model to understand the reliability of the results in forensic genetics.

The proliferative response of HT-29 human colon adenocarcinoma cells to bombesin-like peptides.

Trisomy 13 mosaicism in a phenotypically normal child: Description of cytogenetic and clinical findings from early pregnancy beyond 2 years of age

Two novel cases of compound heterozygous mutations in mitofusin2: Finding out the inheritance.

Two novel mutations and a new STK11/LKB1 gene isoform in Peutz-Jeghers patients.

WITHDRAWN: Corrigendum to ‘Development of an Italian RM Y-STR haplotype database: results of the 2013 GEFI collaborative exercise’ [Forensic. Sci. Int. Genet. 15 (2015) 56-63]

Y-chromosome haplotypes in Italy: the GEFI collaborative database