A5024600059- Retinal Development and Disorders
- Retinal Diseases and Treatments
- Cardiomyopathy and Myosin Studies
- Genomic variations and chromosomal abnormalities
- Prenatal Screening and Diagnostics
- Genomics and Rare Diseases
- Cystic Fibrosis Research Advances
- Amyloidosis: Diagnosis, Treatment, Outcomes
- Forensic and Genetic Research
- Neonatal Respiratory Health Research
- Molecular Biology Techniques and Applications
- Genetic Associations and Epidemiology
- Fetal and Pediatric Neurological Disorders
- RNA regulation and disease
- Lysosomal Storage Disorders Research
- Congenital heart defects research
- Retinal and Macular Surgery
- Parvovirus B19 Infection Studies
- Congenital Ear and Nasal Anomalies
- Eosinophilic Disorders and Syndromes
- CRISPR and Genetic Engineering
- Tumors and Oncological Cases
- Genetics and Neurodevelopmental Disorders
- Environmental DNA in Biodiversity Studies
- Cellular transport and secretion
Azienda Ospedaliero-Universitaria Careggi
2014-2025
University of Florence
2003-2023
University of Trieste
2023
Azienda Sanitaria di Firenze
2016-2022
Florence (Netherlands)
2010
University of Basel
2001
We report on a further case of congenital anomalies in child exposed to methimazole during the first trimester pregnancy (from seventh gestational week), and define specific malformation pattern related prenatal exposure consisting choanal esophageal atresia, scalp defects, minor facial psychomotor delay.
Inherited retinal diseases (IRDs) are the leading cause of vision loss in working-age population. We performed a retrospective epidemiological study to determine genetic basis IRDs large Italian cohort (n = 2790) followed at single referral center. provided, mainly by next generation sequencing, potentially conclusive molecular diagnosis for 2036 patients (from 1683 unrelated families). identified total 1319 causative sequence variations 132 genes, including 353 novel variants, and 866...
Genetic testing in hypertrophic cardiomyopathy (HCM) has long relied on Sanger sequencing of sarcomeric genes. The advent next-generation (NGS) catalyzed routine additional genes dubious HCM-causing potential. We used 19 years genetic results to define a reliable set implicated Mendelian HCM and assess the value expanded NGS panels.We dissected from 1,198 single-center probands devised widely applicable score identify which yield effective diagnostic setting.Compared with early panels...
Abstract Background This research aimed to establish recommendations on the clinical and genetic characteristics necessary confirm patient eligibility for gene supplementation with voretigene neparvovec. Methods An expert steering committee comprising an interdisciplinary panel of Italian experts in three fields medical specialisation involved management RPE65 -associated inherited retinal disease (IRD) (medical retina, genetics, vitreoretinal surgery) proposed questions determine correct...
Olfactory neurons and gonadotropin-releasing hormone (GnRH) share a common origin during organogenesis. Kallmann's syndrome, clinically characterized by anosmia hypogonadotropic hypogonadism, is due to an abnormality in the migration of olfactory GnRH neurons. We recently human FNC-B4 cell line, which retains properties present vivo both In this study, we found that expressed receptor responded with time- dose-dependent increases gene expression protein release (up 5-fold). addition, its...
Introduction: Inherited retinal diseases (IRDs) are the leading cause of vision loss in working‐age population and represent one most genetically heterogeneous, rare Mendelian diseases. This heterogeneity mirrors a spectrum clinical phenotypes which vary terms cell/tissue involvement, disease onset, severity, progression. Aim: To determine genetic basis IRD pathogenesis large Italian cohort (n = 2790) followed at single referral center. Methods: We performed retrospective epidemiological...
Monocentric retrospective case series to describe clinical and molecular peculiarities in a of pediatric patients attempting possible genotype-phenotype correlation. We included 13 from 7 unrelated families (ages 1-18) with biallelic pathogenic likely variants RDH12 gene. For all our segregation analyses were performed their parents affected siblings. According cooperation, underwent complete ophtalmic examination imaging full field standard electroretinography (ffERG), spectral domain...
Purpose: The aim of this article is to report the investigation structural features ABCA4, a protein associated with genetic retinal disease. A new database collecting knowledge ABCA4 structure may facilitate predictions about possible functional consequences gene mutations observed in clinical practice. Methods: In order correlate and effects mutations, mouse P-glycoprotein was used as template for homology modeling. obtained information data are basis our relational (ABCA4Database)....
Hypertrophic cardiomyopathy (HCM) is an important cause of morbidity and mortality with both monogenic polygenic components. We here report results from the largest HCM genome-wide association study (GWAS) multi-trait analysis (MTAG) including 5,900 cases, 68,359 controls, 36,083 UK Biobank (UKB) participants cardiac magnetic resonance (CMR) imaging. identified a total 70 loci (50 novel) associated HCM, 62 (32 as sociated relevant left ventricular (LV) structural or functional traits....
An increasing number of patients have been described as having a Cystic Fibrosis Transmembrane conductance Regulator (CFTR) variants for which it lacks clear genotype-phenotype correlation. We assesses the clinical features bearing S737F (p.Ser737Phe) CFTR missense variant and evaluated residual function protein on nasal epithelial cells (NEC).A retrospective database was performed from individuals homozygous or compound heterozygous followed in (CF) Centre Florence. brushing cooperating...
The past few years have seen the emergence of nanopore-based sequencing technologies which interrogate single molecule DNA and generate reads sequentially.In this paper, we demonstrate that, thanks to sequentiality nanopore process, data generated in first tens minutes a typical MinION/GridION run can be exploited resolve alterations human genome at karyotype level with resolution order Mb, while produced 6-12 h allow obtain comparable currently available array-based technologies, novel...
To report choroidal caverns in patients affected by recessive Stargardt disease (STGD1) and to investigate its clinical features.Retrospective analysis of STGD1 recruited at the Regional Reference Center for Hereditary Retinal Degenerations Eye Clinic Florence from 2012 2017. Patients included study underwent a complete ophthalmic examination including best-corrected visual acuity, color fundus photography, autofluorescence, optical coherence tomography (OCT) OCT angiography.Eighty-six (172...
The quantification of human DNA extracts from forensic samples plays a key role in the genetics process. Quantification guarantees maximum efficiency and avoids repeated analyses, over amplified samples, or unnecessary examinations. Here, we present our experience using an extremely sensitive real-time-based method with Quantifiler® Trio kit, which have explored ISO/IEC17025 accredited test validation process conducted laboratory. In this study, focus was on establishing minimum threshold...
: To describe an atypical phenotypic pattern of late-onset retinitis pigmentosa (RP) due to the same specific c.425A>G (p.Tyr142Cys) heterozygous mutation in cone-rod homeobox gene (
an increased plasma 5-HIAA concentration in a carcinoid patient with atypical facial flush.The application of the present assay allowed measurement very low 5-HT and 5-HIAA.Plasma may serve as biomarker for patients cancer, especially intestinal cancers study.Follow-up examinations further investigations concentrations those after dissection surgery are warranted.
The most frequent localization of amyloid in transthyretin (TTR) mutations is the peripheral nerve, causing familial polyneuropathy (FAP). It generally accompanied by involvement other organs such as myocardium and kidney. To date, over 70 TTR point have been reported literature, with different phenotypes depending on location mutation gene.This paper deals a exon 2 position 47 gene, encoding substitution ofgly-cine glutamate. was found an Italian family 5 patients 3 generations. phenotype...

 Background: Personal genomic tests (PGT) offered directly-to-consumers (DTC) for complex disease risk assessment have raised several concerns regarding their potential adverse impact. To mitigate worries continuing professional education has been advocated and the central gatekeeper role of family physicians highlighted. Nevertheless, to date, only few studies published on awareness, involvement attitudes primary healthcare providers DTC marketing PGT and, best our knowledge, none in...
"A novel GRK1 mutation in an Italian patient with Oguchi disease." Ophthalmic Genetics, 39(1), pp. 137–138
Purpose: to report phenotypic and genotypic features in a group of autosomal recessive retinitis pigmentosa (arRP) patients associated with EYS mutations.Methods: we retrospectively reviewed the clinical records molecular genetic data arRP carrying mutations gene. All underwent comprehensive opthalmological examination. Additional investigation included color fundus photography, autofluorescence, Goldmann visual field, OCT scans full-field standard electroretinography.Results: studied 10 RP...
Objective: The aim of this study was to validate noninvasive prenatal testing (NIPT) for fetal aneuploidies by whole-genome massively parallel sequencing (MPS).Methods: MPS performed on cell-free DNA (cfDNA) isolated from maternal plasma in two groups: a first set 186 euploid samples and second 195 enriched aneuploid cases (n = 69); digital PCR fraction (FF) assessment 178/381 samples. Cases with <10 × 106 reads 54) were excluded downstream data analysis. Follow-up (invasive results or...