Lista de obras -

A Novel Mutation (R271X) in the Myotubularin Gene Causes a Severe Miotubular Myopathy

article

A new case of SMABF2 diagnosed in stillbirth expands the prenatal presentation and mutational spectrum of ASCC1

artículo científico publicado en 2019

Aberrant Function of the C-Terminal Tail of HIST1H1E Accelerates Cellular Senescence and Causes Premature Aging

scientific article published on 22 August 2019

Atrioventricular canal defect and genetic syndromes: The unifying role of sonic hedgehog

artículo científico publicado en 2018

Atrioventricular canal defect as partial expression of heterotaxia in patients with Bardet-Biedl syndrome

scientific article published on 13 December 2019

Biallelic mutations in DYNC2LI1 are a rare cause of Ellis-van Creveld syndrome.

artículo científico publicado en 2017

Biological and clinical manifestations of juvenile Huntington's disease: a retrospective analysis

scientific article published on 19 September 2018

Clinical and functional characterization of a novel RASopathy-causing SHOC2 mutation associated with prenatal-onset hypertrophic cardiomyopathy

artículo científico publicado en 2019

Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype-phenotype study in neurofibromatosis type 1

scientific article published on 26 October 2019

Common atrium/atrioventricular canal defect and postaxial polydactyly: a mild clinical subtype of Ellis-van Creveld syndrome caused by hypomorphic mutations in the EVC gene

scientific article published on 09 September 2020

Correction: Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype-phenotype correlation

article

DHPLC screening of ATM gene in Italian patients affected by ataxia-telangiectasia: fourteen novel ATM mutations

artículo científico publicado en 2006

DNA Methylation in the Diagnosis of Monogenic Diseases

artículo científico publicado en 2020

De Novo Missense Variants in FBXW11 Cause Diverse Developmental Phenotypes Including Brain, Eye, and Digit Anomalies

artículo científico publicado en 2019

Evaluation of a DHPLC-based assay for rapid detection of RET germline mutations in Italian patients with medullary thyroid carcinoma

artículo científico publicado en 2004

Evidence for an association between the SRD5A2 (type II steroid 5 alpha-reductase) locus and prostate cancer in Italian patients.

artículo científico publicado en 2000

Evolutionary conserved networks of human height identify multiple Mendelian causes of short stature

scientific article published on 26 February 2019

Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype-phenotype correlation

artículo científico publicado en 2018

First-trimester prenatal diagnosis of Ellis-van Creveld syndrome using linked microsatellite markers

artículo científico publicado en 1998

Functional analysis of splicing mutations in exon 7 of NF1 gene

artículo científico publicado en 2007

GLI1 inactivation is associated with developmental phenotypes overlapping with Ellis-van Creveld syndrome.

artículo científico publicado en 2017

Generation of induced pluripotent stem cell line CSSi008-A (4698) from a patient affected by advanced stage of Dentato-Rubral-Pallidoluysian atrophy (DRPLA)

scientific article published on 27 August 2019

Generation of the induced pluripotent stem cell line CSSi006-A (3681) from a patient affected by advanced-stage Juvenile Onset Huntington's Disease

artículo científico publicado en 2018

Genetics of rotator cuff tears: no association of col5a1 gene in a case-control study

article

Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844-848.

artículo científico publicado en 2017

Heterozygous missense mutations in NFATC1 are associated with atrioventricular septal defect

artículo científico publicado en 2018

Identification of type A, B, E, and F botulinum neurotoxin genes and of botulinum neurotoxigenic clostridia by denaturing high-performance liquid chromatography.

artículo científico publicado en 2004

Isoform-specific NF1 mRNA levels correlate with disease severity in Neurofibromatosis type 1

scientific article published on 15 November 2019

Localization of a gene for familial patella aplasia-hypoplasia (PTLAH) to chromosome 17q21-22

artículo científico publicado en 1999

Loss of heterozygosity at the BRCA2 locus detected by multiplex ligation-dependent probe amplification is common in prostate cancers from men with a germline BRCA2 mutation.

artículo científico

Low-Grade Gliomas in Patients with Noonan Syndrome: Case-Based Review of the Literature

scientific article published on 12 August 2020

Martsolf syndrome with novel mutation in the TBC1D20 gene in a family from Iran

scientific article published on 12 March 2020

Mutational spectrum and clinical signatures in 114 families with hereditary multiple osteochondromas: insights into molecular properties of selected exostosin variants

scientific article published on 01 July 2019

Myoclonic status and central fever in Angelman syndrome due to paternal uniparental disomy.

artículo científico publicado en 2015

NF1 gene mutations represent the major molecular event underlying neurofibromatosis-Noonan syndrome

artículo científico publicado en 2005

Novel homozygous mutation in exon 5 of WFS1 gene in an Apulian family with mild phenotypic expression of Wolfram syndrome

artículo científico publicado en 2013

Novel α-Actin Gene Mutation p.(Ala21Val) Causing Familial Hypertrophic Cardiomyopathy, Myocardial Noncompaction, and Transmural Crypts. Clinical-Pathologic Correlation.

artículo científico publicado en 2018

Oculodentodigital dysplasia with massive brain calcification and a new mutation of GJA1 gene.

artículo científico publicado en 2015

Ovarian carcinomas with genetic and epigenetic BRCA1 loss have distinct molecular abnormalities

artículo científico publicado en 2008

Paroxysmal Dyskinesias in a Mutation Carrier

artículo científico publicado en 2018

Pentalogy of cantrell with complete ectopia cordis in a fetus with asplenia

artículo científico publicado en 2012

Prevalence, Type, and Molecular Spectrum of NF1 Mutations in Patients with Neurofibromatosis Type 1 and Congenital Heart Disease

artículo científico publicado en 2019

RASopathies: Clinical Diagnosis in the First Year of Life

artículo científico publicado en 2011

Rapid scanning of myotubularin (MTM1) gene by denaturing high-performance liquid chromatography (DHPLC).

artículo científico publicado en 2002

Shagreen-patch in a NF1 patient with a new missense mutation.

artículo científico publicado en 2018

Specific variants in WDR35 cause a distinctive form of Ellis-van Creveld syndrome by disrupting the recruitment of the EvC complex and SMO into the cilium

artículo científico publicado en 2015

The Global Emergency of Novel Coronavirus (SARS-CoV-2): An Update of the Current Status and Forecasting

scientific article published on 05 August 2020

The clinical significance of A2ML1 variants in Noonan syndrome has to be reconsidered

artículo científico publicado en 2020

Three novel mutations causing a truncated protein within the RP2 gene in Italian families with X-linked retinitis pigmentosa

article

Transplantation of clinical-grade human neural stem cells reduces neuroinflammation, prolongs survival and delays disease progression in the SOD1 rats

artículo científico publicado en 2019

Validation of dHPLC for Molecular Diagnosis of β-Thalassemia in Southern Italy

article

Variants of SOS2 are a rare cause of Noonan syndrome with particular predisposition for lymphatic complications

scientific article published on 12 August 2020

“Spazio Huntington”: Tracing the Early Motor, Cognitive and Behavioral Profiles of Kids with Proven Pediatric Huntington Disease and Expanded Mutations > 80 CAG Repeats

artículo científico publicado en 2022

Lista de obras de

A Novel Mutation (R271X) in the Myotubularin Gene Causes a Severe Miotubular Myopathy

A new case of SMABF2 diagnosed in stillbirth expands the prenatal presentation and mutational spectrum of ASCC1

Aberrant Function of the C-Terminal Tail of HIST1H1E Accelerates Cellular Senescence and Causes Premature Aging

Atrioventricular canal defect and genetic syndromes: The unifying role of sonic hedgehog

Atrioventricular canal defect as partial expression of heterotaxia in patients with Bardet-Biedl syndrome

Biallelic mutations in DYNC2LI1 are a rare cause of Ellis-van Creveld syndrome.

Biological and clinical manifestations of juvenile Huntington's disease: a retrospective analysis

Clinical and functional characterization of a novel RASopathy-causing SHOC2 mutation associated with prenatal-onset hypertrophic cardiomyopathy

Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype-phenotype study in neurofibromatosis type 1

Common atrium/atrioventricular canal defect and postaxial polydactyly: a mild clinical subtype of Ellis-van Creveld syndrome caused by hypomorphic mutations in the EVC gene

Correction: Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype-phenotype correlation

DHPLC screening of ATM gene in Italian patients affected by ataxia-telangiectasia: fourteen novel ATM mutations

DNA Methylation in the Diagnosis of Monogenic Diseases

De Novo Missense Variants in FBXW11 Cause Diverse Developmental Phenotypes Including Brain, Eye, and Digit Anomalies

Evaluation of a DHPLC-based assay for rapid detection of RET germline mutations in Italian patients with medullary thyroid carcinoma

Evidence for an association between the SRD5A2 (type II steroid 5 alpha-reductase) locus and prostate cancer in Italian patients.

Evolutionary conserved networks of human height identify multiple Mendelian causes of short stature

Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype-phenotype correlation

First-trimester prenatal diagnosis of Ellis-van Creveld syndrome using linked microsatellite markers

Functional analysis of splicing mutations in exon 7 of NF1 gene

GLI1 inactivation is associated with developmental phenotypes overlapping with Ellis-van Creveld syndrome.

Generation of induced pluripotent stem cell line CSSi008-A (4698) from a patient affected by advanced stage of Dentato-Rubral-Pallidoluysian atrophy (DRPLA)

Generation of the induced pluripotent stem cell line CSSi006-A (3681) from a patient affected by advanced-stage Juvenile Onset Huntington's Disease

Genetics of rotator cuff tears: no association of col5a1 gene in a case-control study

Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844-848.

Heterozygous missense mutations in NFATC1 are associated with atrioventricular septal defect

Identification of type A, B, E, and F botulinum neurotoxin genes and of botulinum neurotoxigenic clostridia by denaturing high-performance liquid chromatography.

Isoform-specific NF1 mRNA levels correlate with disease severity in Neurofibromatosis type 1

Localization of a gene for familial patella aplasia-hypoplasia (PTLAH) to chromosome 17q21-22

Loss of heterozygosity at the BRCA2 locus detected by multiplex ligation-dependent probe amplification is common in prostate cancers from men with a germline BRCA2 mutation.

Low-Grade Gliomas in Patients with Noonan Syndrome: Case-Based Review of the Literature

Martsolf syndrome with novel mutation in the TBC1D20 gene in a family from Iran

Mutational spectrum and clinical signatures in 114 families with hereditary multiple osteochondromas: insights into molecular properties of selected exostosin variants

Myoclonic status and central fever in Angelman syndrome due to paternal uniparental disomy.

NF1 gene mutations represent the major molecular event underlying neurofibromatosis-Noonan syndrome

Novel homozygous mutation in exon 5 of WFS1 gene in an Apulian family with mild phenotypic expression of Wolfram syndrome

Novel α-Actin Gene Mutation p.(Ala21Val) Causing Familial Hypertrophic Cardiomyopathy, Myocardial Noncompaction, and Transmural Crypts. Clinical-Pathologic Correlation.

Oculodentodigital dysplasia with massive brain calcification and a new mutation of GJA1 gene.

Ovarian carcinomas with genetic and epigenetic BRCA1 loss have distinct molecular abnormalities

Paroxysmal Dyskinesias in a Mutation Carrier

Pentalogy of cantrell with complete ectopia cordis in a fetus with asplenia

Prevalence, Type, and Molecular Spectrum of NF1 Mutations in Patients with Neurofibromatosis Type 1 and Congenital Heart Disease

RASopathies: Clinical Diagnosis in the First Year of Life

Rapid scanning of myotubularin (MTM1) gene by denaturing high-performance liquid chromatography (DHPLC).

Shagreen-patch in a NF1 patient with a new missense mutation.

Specific variants in WDR35 cause a distinctive form of Ellis-van Creveld syndrome by disrupting the recruitment of the EvC complex and SMO into the cilium

The Global Emergency of Novel Coronavirus (SARS-CoV-2): An Update of the Current Status and Forecasting

The clinical significance of A2ML1 variants in Noonan syndrome has to be reconsidered

Three novel mutations causing a truncated protein within the RP2 gene in Italian families with X-linked retinitis pigmentosa

Transplantation of clinical-grade human neural stem cells reduces neuroinflammation, prolongs survival and delays disease progression in the SOD1 rats

Validation of dHPLC for Molecular Diagnosis of β-Thalassemia in Southern Italy

Variants of SOS2 are a rare cause of Noonan syndrome with particular predisposition for lymphatic complications

“Spazio Huntington”: Tracing the Early Motor, Cognitive and Behavioral Profiles of Kids with Proven Pediatric Huntington Disease and Expanded Mutations > 80 CAG Repeats