about
Novel mutations of TCOF1 gene in European patients with Treacher Collins syndromeMandibuloacral dysplasia is caused by a mutation in LMNA-encoding lamin A/CIn vitro correction of cystic fibrosis epithelial cell lines by small fragment homologous replacement (SFHR) technique.Molecular analysis using DHPLC of cystic fibrosis: increase of the mutation detection rate among the affected population in Central ItalyExpression analysis of the gene encoding for the U-box-type ubiquitin ligase UBE4A in human tissuesGene transfection efficiency of tracheal epithelial cells by DC-chol-DOPE/DNA complexes.Small fragment homologous replacement: evaluation of factors influencing modification efficiency in an eukaryotic assay system.Analysis of intracellular distribution and apoptosis involvement of the Ufd1l gene product by over-expression studies.3'-UTR OLR1/LOX-1 gene polymorphism and endothelial dysfunction: molecular and vascular data in never-treated hypertensive patients.Structure and expression of the human ubiquitin fusion-degradation gene (UFD1L).Towards the pharmacogenomics of cystic fibrosis.Application of Next Generation Sequencing for personalized medicine for sudden cardiac death.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.Deletion of REXO1L1 locus in a patient with malabsorption syndrome, growth retardation, and dysmorphic features: a novel recognizable microdeletion syndrome?Toward the pharmacogenomics of cystic fibrosis--an update.Cellular genetic therapy.Cftr gene targeting in mouse embryonic stem cells mediated by Small Fragment Homologous Replacement (SFHR)Diagnostic CFTR mutation analysis.Generation of Human Induced Pluripotent Stem Cells from Extraembryonic Tissues of Fetuses Affected by Monogenic Diseases.Recessive congenital myotonia resulting from maternal isodisomy of chromosome 7: a case reportRhabdoid tumor predisposition syndrome caused by SMARCB1 constitutional deletion: prenatal detection of new case of recurrence in siblings due to gonadal mosaicism.Comparative analysis between saliva and buccal swabs as source of DNA: lesson from HLA-B*57:01 testing.Analysis of linkage disequilibrium between different cystic fibrosis mutations and three intragenic microsatellites in the Italian population.A Perturbed MicroRNA Expression Pattern Characterizes Embryonic Neural Stem Cells Derived from a Severe Mouse Model of Spinal Muscular Atrophy (SMA).Delta F508 gene deletion and prenatal diagnosis of cystic fibrosis in Italian and Spanish families.Small Fragment Homologous Replacement (SFHR): sequence-specific modification of genomic DNA in eukaryotic cells by small DNA fragments.In vivo and in vitro studies support that a new splicing isoform of OLR1 gene is protective against acute myocardial infarction.Prenatal diagnosis of spinal muscular atrophy with respiratory distress (SMARD1) in a twin pregnancy.Mapping of a new autosomal dominant nonsyndromic hearing loss locus (DFNA30) to chromosome 15q25-26.A pilot beta-thalassaemia screening program in the Albanian population for a health planning program.Expression analysis and protein localization of the human HPC-1/syntaxin 1A, a gene deleted in Williams syndrome.FLG (filaggrin) null mutations and sunlight exposure: Evidence of a correlation.Analysis of 14 cystic fibrosis mutations in five South European populationsPolymorphic DNA haplotypes and ΔF508 deletion in 212 Italian CF familiesSimultaneous detection of ΔF508, G542X, N1303K, G551D, and 1717-1G→A cystic fibrosis alleles by a multiplex DNA enzyme immunoassayA new method for direct analysis of polymerase chain reaction-amplified human papillomavirus using DNA enzyme immunoassayA serine-to-arginine (AGT-to-CGT) mutation in codon 549 of the CFTR gene in an Italian patient with severe cystic fibrosisCommon polymorphisms in MIR146a, MIR128a and MIR27a genes contribute to neuropathy susceptibility in type 2 diabetesTransabdominal coelocentesis as early source of fetal DNA for chromosomal and molecular diagnosisMicroRNA genetic variations: association with type 2 diabetes
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P50
description
researcher ORCID ID = 0000-0002-6227-4248
@en
wetenschapper
@nl
name
Federica Sangiuolo
@ast
Federica Sangiuolo
@en
Federica Sangiuolo
@es
Federica Sangiuolo
@nl
type
label
Federica Sangiuolo
@ast
Federica Sangiuolo
@en
Federica Sangiuolo
@es
Federica Sangiuolo
@nl
prefLabel
Federica Sangiuolo
@ast
Federica Sangiuolo
@en
Federica Sangiuolo
@es
Federica Sangiuolo
@nl
P106
P1153
7004158884
P21
P31
P496
0000-0002-6227-4248