A5042291572- Genetic Associations and Epidemiology
- Hearing, Cochlea, Tinnitus, Genetics
- Crystallization and Solubility Studies
- X-ray Diffraction in Crystallography
- Biochemical Analysis and Sensing Techniques
- Genetics and Neurodevelopmental Disorders
- Reproductive Biology and Fertility
- Epigenetics and DNA Methylation
- Health, Environment, Cognitive Aging
- Inorganic Fluorides and Related Compounds
- Magnetism in coordination complexes
- SARS-CoV-2 and COVID-19 Research
- SARS-CoV-2 detection and testing
- Olfactory and Sensory Function Studies
- Cell Adhesion Molecules Research
- Lanthanide and Transition Metal Complexes
- Neonatal Respiratory Health Research
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- RNA Research and Splicing
- RNA regulation and disease
- Colorectal Cancer Treatments and Studies
- Genetics, Aging, and Longevity in Model Organisms
- Cardiovascular Health and Risk Factors
- Sex and Gender in Healthcare
- Renal Diseases and Glomerulopathies
IRCCS Materno Infantile Burlo Garofolo
2014-2022
Ludwig-Maximilians-Universität München
2016-2017
University of Trieste
2014
Hauptman-Woodward Medical Research Institute
2000
Politecnico di Milano
1984
Hereditary hearing loss (HHL) is a common disorder characterized by huge genetic heterogeneity. The definition of correct molecular diagnosis essential for proper counseling, recurrence risk estimation, and therapeutic options. From 20 to 40% patients carry mutations in GJB2 gene, thus, more than half cases it necessary look causative variants the other genes so far identified (~100). In this light, use next-generation sequencing technologies has proved be best solution mutational screening,...
Hereditary hearing loss (HHL) and age-related (ARHL) are two major sensory diseases affecting millions of people worldwide. Despite many efforts, additional HHL-genes ARHL genetic risk factors still need to be identified. To fill this gap a large genomic screening based on next-generation sequencing technologies was performed. Whole exome in 3-generation Italian HHL family targeted re-sequencing 464 patients were We detected three variants SPATC1L: nonsense allele an frameshift insertion...
Epileptic encephalopathies (EEs) and developmental epileptic (DEEs) are a group of severe early-onset neurodevelopmental disorders (NDDs). In recent years, next-generation equencing (NGS) technologies enabled the discovery numerous genes involved in these conditions. However, more than 50% patients remained undiagnosed. A major obstacle lies high degree genetic heterogeneity wide phenotypic variability that has characterized disorders. Interpreting large amount NGS data is also crucial...
Abstract The fast spread of the novel coronavirus (SARS-CoV-2) has become a global threat hitting worldwide fragile health care system. In Italy, there is continued COVID-19 growth cases and deaths that requires control measures for correct management epidemiological emergency. To contribute to increasing overall knowledge COVID-19, systematic tests in general population are required. Here, we describe first Italian survey performed 727 employees belonging Mother-Child Research hospital...
Four crystalline nitrosyl–iron compounds of the {FeNO} 7 ( S = 3/2) type with aminecarboxylato co‐ligands were prepared from aqueous solutions iron(II) sulfate, an equimolar amount one ethylenediamine‐ N , N′ ‐diacetate (edda), nitrilotriacetate (nta), ‐bis(2‐hydroxyethyl)ethylenediamine‐ (bhedda) or ‐tetraacetate (edta) and gaseous nitric oxide. The hemihydrate [Fe(edda)(H 2 O)(NO)] · 0.5H O 1· O), a hydrated coordination polymer [{Fe(H O) 4 }{Fe(NO)(nta)} ] n/n 2H [Fe(H ) [Fe(NO)(nta)] –...
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Procalcitonin (PCT) is one of the best diagnostic and prognostic markers in clinical practice, widely used to evaluate evolution bacterial infections. Although it mainly produced by thyroid, during sepsis almost all peripheral tissues are involved PCT production. Parenchymal cells have been suggested as main source expression; however contribution macrophages not clear yet. In response environmental cues, tissue acquire distinct functional phenotypes, ranging from proinflammatory (M1)...
Age-related hearing loss (ARHL) is the most common sensory impairment in elderly affecting millions of people worldwide. To shed light on genetics ARHL, a large cohort 464 Italian patients has been deeply characterized at clinical and molecular level. In particular, 46 candidate genes, selected basis genome-wide association studies (GWAS), animal models literature updates, were analyzed by targeted re-sequencing. After filtering prioritization steps, SLC9A3R1 identified as strong then...
Abstract Background FBLIM1 gene has been recently demonstrated to be involved in the pathogenesis of bone sterile inflammation. The aim study is evaluate prevalence variants a cohort 80 Italian patients with Chronic Non-bacterial Osteomyelitis (CNO). Methods coding regions were sequenced CNO using DNA extracted from blood lymphocytes, and PCR products sequenced. Only rare (global MAF < 2%), detected considered. Clinical evaluation those without was performed. Fisher’s exact test used...
Abstract Biallelic mutations in the TTC5 gene have been associated with autosomal recessive intellectual disability (ARID) and subsequently an ID syndrome including severe speech impairment, cerebral atrophy, hypotonia as clinical cornerstones. A role IDs has proposed based on physical interaction of p300, possibly reducing p300 co‐activator complex activity, similarly to what was observed Menke‐Hennekam 1 2 patients (MKHK1 2) carrying, respectively, exon 30 31 CREBBP EP300 , which code for...
Breast cancer is the most common in women characterized by a high variable clinical outcome among individuals treated with equivalent regimens and novel targeted therapies. In this study, we performed population based approach intersecting high-throughput genotype data from Friuli Venezia Giulia (FVG) isolated populations publically available pharmacogenomics information to estimate frequency of genotypes correlated responsiveness breast treatment thus improving management disease an...
Background: The fast spread of the novel coronavirus (SARS-CoV-2) has become a global threat hitting worldwide fragile health care system. In Italy, there is an increased COVID-19 growth cases and deaths requiring control measures for management this emergency (e.g. systematic tests in general population).Methods: 727 employees belonging to Mother-Child Research hospital tested both viral (nasopharyngeal oropharyngeal swabs) antibody presence have been recruited. Individuals were divided...
Abstract Background Despite consolidated guidelines, the clinical diagnosis and prognosis of cystic fibrosis (CF) is still challenging mainly because extensive phenotypic heterogeneity high number CFTR variants, including their combinations as complex alleles. Results We report a family with complicated syndromic phenotype, which led to suspicion not only CF, but dominantly inherited skeletal dysplasia (SD). Whereas molecular basis SD was clarified, segregation analysis central make correct...
Hearing loss (HL) is the most common sensory impairment, and it characterized by a high clinical/genetic heterogeneity. Here we report identification of dual molecular diagnoses (i.e., mutations at two loci that lead to expression Mendelian conditions) in series families affected non-syndromic syndromic HL. Eighty-two patients who displayed HL as major clinical feature have been recruited during last year. After an accurate evaluation, individuals analyzed through whole-exome sequencing...
Objectives: Hereditary Hearing Loss (HHL) is a common genetic disorder accounting for at least 60% of prelingual deafness in children. The long tradition consanguinity, which widespread among populations Arabian Peninsula, increases the prevalence HHL. It one most frequent causes school failure Qatar. GJB2 gene plays worldwide major role HHL recessive forms while Qatar it has minor thus strongly suggesting presence additional causative genes. To overcome remarkable heterogeneity population,...