List of works - Federica Sangiuolo

Mandibuloacral dysplasia is caused by a mutation in LMNA-encoding lamin A/C

scientific article

In vivo and in vitro studies support that a new splicing isoform of OLR1 gene is protective against acute myocardial infarction

scientific article published on 23 June 2005

108th ENMC International Workshop, 3rd Workshop of the MYO-CLUSTER project: EUROMEN, 7th International Emery-Dreifuss Muscular Dystrophy (EDMD) Workshop, 13-15 September 2002, Naarden, The Netherlands

scientific article

Analysis of 14 cystic fibrosis mutations in five South European populations

article

Common polymorphisms in MIR146a, MIR128a and MIR27a genes contribute to neuropathy susceptibility in type 2 diabetes

article

MicroRNA genetic variations: association with type 2 diabetes

scientific article published on 27 March 2013

TCF7L2 gene polymorphisms and type 2 diabetes: association with diabetic retinopathy and cardiovascular autonomic neuropathy

article

Epidemiology and a novel procedure for large scale analysis of CFTR rearrangements in classic and atypical CF patients: A multicentric Italian study

article

Rescue of murine silica-induced lung injury and fibrosis by human embryonic stem cells

scientific article published on 30 June 2011

IPLEX Administration Improves Motor Neuron Survival and Ameliorates Motor Functions in a Severe Mouse Model of Spinal Muscular Atrophy

scientific article published on September 25, 2012

Cftr gene targeting in mouse embryonic stem cells mediated by Small Fragment Homologous Replacement (SFHR)

scientific article published on January 2008

In vitro correction of cystic fibrosis epithelial cell lines by small fragment homologous replacement (SFHR) technique.

scientific article

In Vitro Restoration of Functional SMN Protein in Human Trophoblast Cells Affected by Spinal Muscular Atrophy by Small Fragment Homologous Replacement

scientific article published on 01 July 2005

Structure and expression of the human ubiquitin fusion-degradation gene (UFD1L).

scientific article

A serine-to-arginine (AGT-to-CGT) mutation in codon 549 of the CFTR gene in an Italian patient with severe cystic fibrosis

article

Novel mutations of TCOF1 gene in European patients with Treacher Collins syndrome

scientific article

Generation of Human Induced Pluripotent Stem Cells from Extraembryonic Tissues of Fetuses Affected by Monogenic Diseases.

scientific article published on August 2015

A Perturbed MicroRNA Expression Pattern Characterizes Embryonic Neural Stem Cells Derived from a Severe Mouse Model of Spinal Muscular Atrophy (SMA).

scientific article published on 6 August 2015

Expression analysis of the gene encoding for the U-box-type ubiquitin ligase UBE4A in human tissues

scientific article (publication date: 17 March 2004)

Molecular analysis using DHPLC of cystic fibrosis: increase of the mutation detection rate among the affected population in Central Italy

scientific article

Expression analysis and protein localization of the human HPC-1/syntaxin 1A, a gene deleted in Williams syndrome.

scientific article published in December 1999

Three new mutations (P183T, V150L, 528insG) and eleven sequence polymorphisms in Italian patients with galactose-1-phosphate uridyltransferase (GALT) deficiency

article

SARS-COV-2 and infectivity: Possible increase in infectivity associated to integrin motif expression

scientific article published on 04 April 2020

A new method for direct analysis of polymerase chain reaction-amplified human papillomavirus using DNA enzyme immunoassay

scientific article published on 01 January 1994

Exclusion of the elastin gene in the pathogenesis of Costello syndrome

article

Rhabdoid tumor predisposition syndrome caused by SMARCB1 constitutional deletion: prenatal detection of new case of recurrence in siblings due to gonadal mosaicism.

scientific article published on 5 September 2015

Application of Next Generation Sequencing for personalized medicine for sudden cardiac death

scientific article

Polymorphic DNA haplotypes and ΔF508 deletion in 212 Italian CF families

article

Comparative analysis between saliva and buccal swabs as source of DNA: lesson from HLA-B*57:01 testing.

scientific article

Small Fragment Homologous Replacement (SFHR): sequence-specific modification of genomic DNA in eukaryotic cells by small DNA fragments

scientific article published in January 2014

Towards the pharmacogenomics of cystic fibrosis.

scientific article

Gene transfection efficiency of tracheal epithelial cells by DC-chol-DOPE/DNA complexes.

scientific article

Analysis of linkage disequilibrium between different cystic fibrosis mutations and three intragenic microsatellites in the Italian population.

scientific article published on January 1995

Delta F508 gene deletion and prenatal diagnosis of cystic fibrosis in Italian and Spanish families.

scientific article published in June 1990

Deletion of REXO1L1 locus in a patient with malabsorption syndrome, growth retardation, and dysmorphic features: a novel recognizable microdeletion syndrome?

scientific article published on 2 April 2015

Simultaneous detection of ΔF508, G542X, N1303K, G551D, and 1717-1G→A cystic fibrosis alleles by a multiplex DNA enzyme immunoassay

scientific article published on 01 January 1995

Mapping of a new autosomal dominant nonsyndromic hearing loss locus (DFNA30) to chromosome 15q25-26.

scientific article published in September 2001

FLG (filaggrin) null mutations and sunlight exposure: Evidence of a correlation.

scientific article

Prenatal diagnosis of spinal muscular atrophy with respiratory distress (SMARD1) in a twin pregnancy

scientific article published in October 2004

Toward the pharmacogenomics of cystic fibrosis--an update.

scientific article published in October 2004

Small fragment homologous replacement: evaluation of factors influencing modification efficiency in an eukaryotic assay system

scientific article

A pilot beta-thalassaemia screening program in the Albanian population for a health planning program.

scientific article published on 29 June 2009

Diagnostic CFTR mutation analysis.

scientific article published on February 2008

Analysis of intracellular distribution and apoptosis involvement of the Ufd1l gene product by over-expression studies

scientific article

Transabdominal coelocentesis as early source of fetal DNA for chromosomal and molecular diagnosis

scientific article published on 09 April 2014

Recessive congenital myotonia resulting from maternal isodisomy of chromosome 7: a case report

scientific article published on 29 April 2009

Forensic applications of molecular genetic analysis: an Italian collaborative study on paternity testing by the determination of variable number of tandem repeat DNA polymorphisms

scientific article published on 01 January 1991

Specific miRNA and Gene Deregulation Characterize the Increased Angiogenic Remodeling of Thoracic Aneurysmatic Aortopathy in Marfan Syndrome

scientific article published on 19 September 2020

Application of CRISPR/Cas9 to human-induced pluripotent stem cells: from gene editing to drug discovery

scientific article published on 26 June 2020

3'-UTR OLR1/LOX-1 gene polymorphism and endothelial dysfunction: molecular and vascular data in never-treated hypertensive patients

scientific article

List of works by Federica Sangiuolo

Mandibuloacral dysplasia is caused by a mutation in LMNA-encoding lamin A/C

In vivo and in vitro studies support that a new splicing isoform of OLR1 gene is protective against acute myocardial infarction

108th ENMC International Workshop, 3rd Workshop of the MYO-CLUSTER project: EUROMEN, 7th International Emery-Dreifuss Muscular Dystrophy (EDMD) Workshop, 13-15 September 2002, Naarden, The Netherlands

Analysis of 14 cystic fibrosis mutations in five South European populations

Common polymorphisms in MIR146a, MIR128a and MIR27a genes contribute to neuropathy susceptibility in type 2 diabetes

MicroRNA genetic variations: association with type 2 diabetes

TCF7L2 gene polymorphisms and type 2 diabetes: association with diabetic retinopathy and cardiovascular autonomic neuropathy

Epidemiology and a novel procedure for large scale analysis of CFTR rearrangements in classic and atypical CF patients: A multicentric Italian study

Rescue of murine silica-induced lung injury and fibrosis by human embryonic stem cells

IPLEX Administration Improves Motor Neuron Survival and Ameliorates Motor Functions in a Severe Mouse Model of Spinal Muscular Atrophy

Cftr gene targeting in mouse embryonic stem cells mediated by Small Fragment Homologous Replacement (SFHR)

In vitro correction of cystic fibrosis epithelial cell lines by small fragment homologous replacement (SFHR) technique.

In Vitro Restoration of Functional SMN Protein in Human Trophoblast Cells Affected by Spinal Muscular Atrophy by Small Fragment Homologous Replacement

Structure and expression of the human ubiquitin fusion-degradation gene (UFD1L).

A serine-to-arginine (AGT-to-CGT) mutation in codon 549 of the CFTR gene in an Italian patient with severe cystic fibrosis

Novel mutations of TCOF1 gene in European patients with Treacher Collins syndrome

Generation of Human Induced Pluripotent Stem Cells from Extraembryonic Tissues of Fetuses Affected by Monogenic Diseases.

A Perturbed MicroRNA Expression Pattern Characterizes Embryonic Neural Stem Cells Derived from a Severe Mouse Model of Spinal Muscular Atrophy (SMA).

Expression analysis of the gene encoding for the U-box-type ubiquitin ligase UBE4A in human tissues

Molecular analysis using DHPLC of cystic fibrosis: increase of the mutation detection rate among the affected population in Central Italy

Expression analysis and protein localization of the human HPC-1/syntaxin 1A, a gene deleted in Williams syndrome.

Three new mutations (P183T, V150L, 528insG) and eleven sequence polymorphisms in Italian patients with galactose-1-phosphate uridyltransferase (GALT) deficiency

SARS-COV-2 and infectivity: Possible increase in infectivity associated to integrin motif expression

A new method for direct analysis of polymerase chain reaction-amplified human papillomavirus using DNA enzyme immunoassay

Exclusion of the elastin gene in the pathogenesis of Costello syndrome

Rhabdoid tumor predisposition syndrome caused by SMARCB1 constitutional deletion: prenatal detection of new case of recurrence in siblings due to gonadal mosaicism.

Application of Next Generation Sequencing for personalized medicine for sudden cardiac death

Polymorphic DNA haplotypes and ΔF508 deletion in 212 Italian CF families

Comparative analysis between saliva and buccal swabs as source of DNA: lesson from HLA-B*57:01 testing.

Small Fragment Homologous Replacement (SFHR): sequence-specific modification of genomic DNA in eukaryotic cells by small DNA fragments

Towards the pharmacogenomics of cystic fibrosis.

Gene transfection efficiency of tracheal epithelial cells by DC-chol-DOPE/DNA complexes.

Analysis of linkage disequilibrium between different cystic fibrosis mutations and three intragenic microsatellites in the Italian population.

Delta F508 gene deletion and prenatal diagnosis of cystic fibrosis in Italian and Spanish families.

Deletion of REXO1L1 locus in a patient with malabsorption syndrome, growth retardation, and dysmorphic features: a novel recognizable microdeletion syndrome?

Simultaneous detection of ΔF508, G542X, N1303K, G551D, and 1717-1G→A cystic fibrosis alleles by a multiplex DNA enzyme immunoassay

Mapping of a new autosomal dominant nonsyndromic hearing loss locus (DFNA30) to chromosome 15q25-26.

FLG (filaggrin) null mutations and sunlight exposure: Evidence of a correlation.

Prenatal diagnosis of spinal muscular atrophy with respiratory distress (SMARD1) in a twin pregnancy

Toward the pharmacogenomics of cystic fibrosis--an update.

Small fragment homologous replacement: evaluation of factors influencing modification efficiency in an eukaryotic assay system

A pilot beta-thalassaemia screening program in the Albanian population for a health planning program.

Diagnostic CFTR mutation analysis.

Analysis of intracellular distribution and apoptosis involvement of the Ufd1l gene product by over-expression studies

Transabdominal coelocentesis as early source of fetal DNA for chromosomal and molecular diagnosis

Recessive congenital myotonia resulting from maternal isodisomy of chromosome 7: a case report

Forensic applications of molecular genetic analysis: an Italian collaborative study on paternity testing by the determination of variable number of tandem repeat DNA polymorphisms

Specific miRNA and Gene Deregulation Characterize the Increased Angiogenic Remodeling of Thoracic Aneurysmatic Aortopathy in Marfan Syndrome

Application of CRISPR/Cas9 to human-induced pluripotent stem cells: from gene editing to drug discovery

3'-UTR OLR1/LOX-1 gene polymorphism and endothelial dysfunction: molecular and vascular data in never-treated hypertensive patients