A5014687372- DNA Repair Mechanisms
- Genetic Neurodegenerative Diseases
- Carcinogens and Genotoxicity Assessment
- Cerebrospinal fluid and hydrocephalus
- Mitochondrial Function and Pathology
- Neurological disorders and treatments
- Cancer-related Molecular Pathways
- T-cell and B-cell Immunology
- Genetics and Neurodevelopmental Disorders
- Glaucoma and retinal disorders
- Traumatic Brain Injury and Neurovascular Disturbances
- BRCA gene mutations in cancer
- Cardiomyopathy and Myosin Studies
- Genomic variations and chromosomal abnormalities
- Fetal and Pediatric Neurological Disorders
- Head and Neck Cancer Studies
- Cancer Genomics and Diagnostics
- Metabolism and Genetic Disorders
- Cancer therapeutics and mechanisms
- Ophthalmology and Eye Disorders
- DNA and Nucleic Acid Chemistry
- Hematopoietic Stem Cell Transplantation
- Spinal Dysraphism and Malformations
- Acute Lymphoblastic Leukemia research
- Congenital heart defects research
University of Florence
2014-2024
Azienda Ospedaliero-Universitaria Careggi
2004-2021
Bambino Gesù Children's Hospital
2007
University of Cagliari
1999
University of Rome Tor Vergata
1987-1994
Istituto Superiore di Sanità
1991
University of Siena
1989
Rockefeller University
1989
Sapienza University of Rome
1983-1985
University of Urbino
1984-1985
Celiac disease (CD) is a multifactorial disorder involving genetic and environmental factors, thus, having great potential impact on metabolism. This study aims at defining the metabolic signature of CD through Nuclear Magnetic Resonance (NMR) urine serum samples patients. Thirty-four patients diagnosis 34 healthy controls were examined by 1H NMR their urine. A patients' subgroup was also after gluten-free diet (GFD). Projection to Latent Structures provided data reduction clustering,...
ABSTRACT. Calcium-sensing receptor (CaSR) is a plasma membrane protein that regulates tubular reabsorption of Ca. To establish its role in idiopathic hypercalciuria, the association urinary Ca excretion with polymorphisms CASR gene has been studied healthy subjects and hypercalciuric normocalciuric stone formers. exon 7 single nucleotide (SNP), G/T at codon 986, G/A 990, C/G 1011, were evaluated by PCR amplification direct sequencing 97 formers, 134 101 controls. Four haplotypes defined on...
The limited data on cancer phenotypes in men with germline BRCA1 and BRCA2 pathogenic variants (PVs) have hampered the development of evidence-based recommendations for early detection risk reduction this population.
Otofaciocervical syndrome (OFCS) is a rare disorder characterized by facial anomalies, cup-shaped low-set ears, preauricular fistulas, hearing loss, branchial defects, skeletal and mild intellectual disability. Autosomal dominant cases are caused deletions or point mutations of EYA1. A single family with an autosomal recessive form OFCS homozygous missense mutation in PAX1 gene has been described. We report whole exome sequencing 4 members consanguineous which 2 children, showing features...
Changes in the pressure gradient between intraocular and intracranial compartments at lamina cribrosa level are a possible explanation of normal tension glaucoma (NTG). Shunt-treated hydrocephalus (NPH) is model for testing whether increase (time from disease onset to CSF shunt placement, i.e., "protection period") decrease placement observation, "exposure (ICP) protective or risk factors, respectively. The authors estimated prevalence NTG patients with shunt-treated NPH calculated extent...
We investigated the prognostic significance of p53-gene mutation (exon 5-9) and bcl-2-protein expression in primary squamous-cell carcinoma head neck (HNSCC) treated by curative radiotherapy (RT). Primary carcinomas for analysis were obtained from 85 consecutive head-and-neck-cancer patients, with complete follow-up data. detected bcl-2 protein 24% (20/85) HNSCC studied; 38 (45%) tumours had cells bearing p53 mutations. A strong association was observed between tobacco exposure (p = 0.003),...
<h3>Objective</h3> To assess the clinical effect of caudate-putaminal transplantation fetal striatal tissue in Huntington9s disease (HD). <h3>Methods</h3> We carried out a follow-up study on 10 HD transplanted patients and 16 not-transplanted patients. All were evaluated with Unified Rating Scale (UHDRS) whose change motor, cognitive, behavioural functional capacity total scores considered as outcome measures. Grafted also received morphological molecular neuroimaging. <h3>Results</h3>...
Abstract Chromosomal fragile sites that are inducible by methotrexate and aphidicolin frequent in the human population. To assess frequency distribution of these common sites, we performed a cytogenetic survey on lymphocytes from subjects known to be particularly prone breakage because constitutional chromosomal instability, possession rare site, or Panconi anemia. Furthermore, group cancer patients was included this study view possible acquired instability. Lymphocyte chromosomes several...
The purpose of this study was to correlate p53 gene alterations and their expression in 85 head neck squamous cell carcinomas. Genomic amplified with the polymerase chain reaction (PCR) from formalin-fixed, paraffin-embedded tissues. Exons 5 through 8 were screened for mutations by means non-isotopic single-strand conformation polymorphism (SSCP) analysis. detected immunohistochemistry (IHC) monoclonal antibody DO-7. Twenty-three lesions (27%) showed both SSCP variants DO-7 immunostaining,...
OBJECTIVE Three to five days of external lumbar drainage (ELD) CSF is a test for ventriculoperitoneal shunt (VPS) selection in idiopathic normal pressure hydrocephalus (iNPH). The accuracy and complication rates shorter (1-day) ELD procedure were analyzed. METHODS Data patients with iNPH who underwent 1-day be selected undergo VPS placement programmable valve the period from 2005 2015 reviewed. Patients experiencing complications, malfunctioning, or less than 1 year follow-up excluded....
Abstract A baby with a 46,XY,r(20) karyotype is described. The distinguishing features of this rare chromosome anomaly are analysed in the light suggested r(20) syndrome.