Search results for " MLP"

showing 6 items of 6 documents

Carrier screening for spinal muscular atrophy in Italian population

2014

Spinal muscular atrophy (SMA) is an autosomal-recessive neuromuscular disorder characterized by motor neuron degeneration in the anterior horn of the spinal cord and brain stem, resulting in progressive muscle weakness and atrophy. The responsible survival motor neuron gene (SMN1; HGNC: 11117) is localized in 5q11.2-13.3. Screening for carriers of SMA is necessary for effective clinical/prenatal diagnosis and genetic counselling. In this study, the copy number of SMN1 gene was determined from a southern Italian population to estimate carrier frequency. This is the first report addressing the estimation of SMA carrier frequency in an Italian population. Our results show that the SMA carrier …

HeterozygoteGenetic counselingGene DosagePhysiologycarrier screeningPrenatal diagnosisSMN1BiologyCarrier testingMuscular Atrophy SpinalAtrophyGene FrequencySettore BIO/13 - Biologia ApplicataPrevalenceGeneticsmedicineHumansGenetic Testingspinal muscular atrophysurvival motor neuron gene (SMN1); spinal muscular atrophy; carrier screening; MLPAExonsSpinal muscular atrophyMotor neuronSMA*medicine.diseaseSurvival of Motor Neuron 1 ProteinMLPAmedicine.anatomical_structureItalysurvival motor neuron gene (SMN1)Journal of Genetics
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High prevalence of BRCA1 deletions in BRCAPRO-positive patients with high carrier probability.

2007

Mutation screening of the BRCA1 and BRCA2 genes in probands with familial breast/ovarian cancer has been greatly improved by the multiplex ligation-dependent probe amplification (MLPA) assay able to evidence gene rearrangements not detectable by standard screening methods. However, no criteria for selection of cases to be submitted to the MLPA test have been reported yet. We used the BRCAPro software for the selection of familial breast/ovarian cancer probands investigated with the MLPA approach after negative BRCA1/2 conventional mutation screening. One hundred and seventy-seven probands were investigated for germline BRCA1/2 mutations after assessment of genetic risk using BRCAPro. Proban…

AdultMaleOncologyProbandcongenital hereditary and neonatal diseases and abnormalitiesmedicine.medical_specialtyendocrine system diseasesBreast NeoplasmsGermlineBreast Neoplasms MaleGermline mutationBreast cancerRisk FactorsInternal medicinePrevalenceHumansMedicineGenetic Predisposition to DiseaseMultiplexMultiplex ligation-dependent probe amplificationskin and connective tissue diseasesAgedSequence DeletionOvarian NeoplasmsGeneticsBRCA1 Proteinbusiness.industryGenetic Carrier ScreeningProstatic NeoplasmsHematologyMiddle Agedmedicine.diseaseBRCA1 BRCA2 BRCAPro breast cancer MLPA ovarian cancerPedigreeOncologyMutation (genetic algorithm)FemalebusinessOvarian cancerSoftware
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NF1 microdeletion syndrome: case report of two new patients

2019

Abstract Background 17q11.2 microdeletions, which include the neurofibromatosis type 1 (NF1) gene region, are responsible for the NF1 microdeletion syndrome, observed in 4.2% of all NF1 patients. Large deletions of the NF1 gene and its flanking regions are associated with a more severe NF1 phenotype than the NF1 general population. Case presentation We hereby describe the clinical and molecular features of two girls (aged 2 and 4 years, respectively), with non-mosaic atypical deletions. Patient 1 showed fifteen café-au-lait spots and axillary freckling, as well as a Lisch nodule in the left eye, strabismus, high-arched palate, malocclusion, severe kyphoscoliosis, bilateral calcaneovalgus fo…

0301 basic medicinePathologymedicine.medical_specialtycongenital hereditary and neonatal diseases and abnormalitiesGenotype-phenotype correlationNeurofibromatosesLisch noduleContiguous gene syndromePopulationCase ReportContiguous gene syndromeChromosomesCraniofacial Abnormalities03 medical and health sciences0302 clinical medicineAtypical deletionIntellectual DisabilitymedicineHumansMultiplex ligation-dependent probe amplificationNeurofibromatosiseducationChildPreschoolNeurofibromatoseseducation.field_of_studybusiness.industryLearning DisabilitiesPair 17lcsh:RJ1-570Axillary frecklinglcsh:Pediatricsmedicine.diseaseeye diseasesMLPA030104 developmental biologyNF1 geneChild PreschoolFemalemedicine.symptomChromosome DeletionbusinessAtypical deletion; Contiguous gene syndrome; Genotype-phenotype correlation; MLPA; NF1 gene; Child Preschool; Chromosome Deletion; Chromosomes Human Pair 17; Craniofacial Abnormalities; Female; Humans; Intellectual Disability; Learning Disabilities; Neurofibromatoses030217 neurology & neurosurgeryChromosomes Human Pair 17Comparative genomic hybridizationHumanItalian Journal of Pediatrics
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BRCA1/BRCA2 rearrangements and CHEK2 common mutations are infrequent in Italian male breast cancer cases

2008

Male breast cancer (MBC) is a rare and poorly known disease. Germ-line mutations of BRCA2 and, to lesser extent, BRCA1 genes are the highest risk factors associated with MBC. Interestingly, BRCA2 germ-line rearrangements have been described in high-risk breast/ovarian cancer families which included at least one MBC case. Germ-line mutations of CHEK2 gene have been also implicated in inherited MBC predisposition. The CHEK2 1100delC mutation has been shown to increase the risk of breast cancer in men lacking BRCA1/BRCA2 mutations. Intriguingly, two other CHEK2 mutations (IVS2+1G>A and I157T) and a CHEK2 large genomic deletion (del9-10) have been associated with an elevated risk for prostate c…

AdultMaleCancer Researchendocrine system diseasesGenes BRCA2Genes BRCA1male breast cancerProtein Serine-Threonine KinasesBiologychek2medicine.disease_causeBreast Neoplasms Malebrca1Breast cancerbrca2medicineHumansBRCA1/BRCA2germ-line mutationsMultiplex ligation-dependent probe amplificationmlpaskin and connective tissue diseasesneoplasmsCHEK2Germ-Line MutationGene RearrangementMutationCancerGene rearrangementmedicine.diseaseCheckpoint Kinase 2Oncologylarge genomic rearrangementsMale breast cancerCancer researchbrca1; brca2; chek2; germ-line mutations; large genomic rearrangements; male breast cancer; mlpaBreast diseaseBreast Cancer Research and Treatment
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Recognizing Video Resolution by Monitoring Memory Metrics in Mobile Clients

2019

Content delivery is one of the most successful applications in mobile networks. Mobile edge servers are significantly contributing to the improvement of this type of applications, by also performing resolution adaptations as a function of the radio link quality observed by the users. In this paper, we face the problem of dynamically tracking the perceived video resolution by mobile clients in a mobile edge environment to guarantee an agreed Service Level Agreement (SLA). To this purpose, we propose a protocol-agnostic approach, based on monitoring some memory metrics of a running video streaming process at the mobile client, for identifying the time-varying resolution of the video content.

working set size mobile edge computing video resolution MLP networks memory metricsMobile edge computingSettore ING-INF/03 - TelecomunicazioniComputer sciencebusiness.industryRadio Link ProtocolWorking set sizeProcess (computing)Display resolutionlaw.inventionService-level agreementlawServerEnhanced Data Rates for GSM EvolutionbusinessComputer network2019 Fourth International Conference on Fog and Mobile Edge Computing (FMEC)
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Nonlinear black-box models for short-term forecasting of air temperature in the town of Palermo

2011

Weather data are crucial to correctly design buildings and their heating and cooling systems and to assess their energy performances. In the intensely urbanized towns the effect of climatic parameters is further emphasized by the Urban Heat Island (UHI) phenomenon, known as the increase in the air temperature of urban areas, compared to the one measured in the extra-urban areas. The analysis of the heat island needs detailed local climate data which can be collected only by a dedicated weather monitoring system. The Department of Energy and Environmental Researches of the University of Palermo (Italy) has built up a weather monitoring system that works 24 hours per day and makes data availa…

urban heat island.Settore ING-IND/11 - Fisica Tecnica AmbientaleMeteorologyartificial neural networks nonlinear black-box models MLP temperature short-term forecastingTerm (time)Weather stationNonlinear systemBlack boxAir temperatureClimatologyWeather dataEnvironmental scienceUrban heat islandIntensity (heat transfer)
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