0000000000349868

AUTHOR

Maria Luigia Cavaliere

showing 3 related works from this author

Clinical Significance of Rare Copy Number Variations in Epilepsy A Case-Control Survey Using Microarray-Based Comparative Genomic Hybridization

2012

Objective To perform an extensive search for genomic rearrangements by microarray-based comparative genomic hybridization in patients with epilepsy. Design Prospective cohort study. Setting Epilepsy centers in Italy. Patients Two hundred seventy-nine patients with unexplained epilepsy, 265 individuals with nonsyndromic mental retardation but no epilepsy, and 246 healthy control subjects were screened by microarray-based comparative genomic hybridization. Main Outcomes Measures Identification of copy number variations (CNVs) and gene enrichment. Results Rare CNVs occurred in 26 patients (9.3%) and 16 healthy control subjects (6.5%) (P = .26). The CNVs identified in patients were larger (P = …

MaleOncologyendocrine system diseasesMicroarrayGene DosagePreschool Cohort Studies Computational Biology Diagnostic and Statistical Manual of Mental Disorders EpilepsyBioinformaticsPolymerase Chain ReactionFluorescence Intellectual DisabilityCohort StudiesEpilepsySettore MED/38 - Pediatria Generale E SpecialisticaGene DuplicationProspective StudiesCopy-number variationAge of OnsetChildProspective cohort studyIn Situ Hybridization Fluorescenceepidemiology/genetics Nucleic Acid Hybridization Polymerase Chain Reaction Prospective Studies Young AdultGene RearrangementNucleic Acid HybridizationMiddle AgedControl subjectsMagnetic Resonance ImagingDiagnostic and Statistical Manual of Mental Disordersgenetics Female Gene Deletion Gene Dosage Gene Duplication Gene Rearrangement Genome-Wide Association Study Humans In Situ HybridizationItalyRare Copy Number Variations EpilepsyChild PreschoolFemaleepidemiology/genetics ItalyAdultmedicine.medical_specialtyAdolescentBiologyYoung AdultAdolescent Adult Age of Onset Aged Child ChildArts and Humanities (miscellaneous)Intellectual DisabilityInternal medicinemental disordersmedicineHumansIn patientClinical significanceepidemiology Magnetic Resonance Imaging Male Microarray Analysis Middle Aged Nervous System DiseaseAgedEpilepsyComputational BiologyMicroarray Analysismedicine.diseaseSettore MED/03 - Genetica MedicaNeurology (clinical)Nervous System DiseasesGene DeletionGenome-Wide Association StudyComparative genomic hybridization
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3q27.3 microdeletional syndrome: a recognisable clinical entity associating dysmorphic features, marfanoid habitus, intellectual disability and psych…

2013

Abstract: Background Since the advent of array-CGH, numerous new microdeletional syndromes have been delineated while others remain to be described. Although 3q29 subtelomeric deletion is a well-described syndrome, there is no report on 3q interstitial deletions. Methods We report for the first time seven patients with interstitial deletions at the 3q27.3q28 locus gathered through the Decipher database, and suggest this locus as a new microdeletional syndrome. Results The patients shared a recognisable facial dysmorphism and marfanoid habitus, associated with psychosis and mild to severe intellectual disability (ID). Most of the patients had no delay in gross psychomotor acquisition, but ha…

AdultMalePsychosisCandidate genePediatricsmedicine.medical_specialtyAdolescentLocus (genetics)ArachnodactylyYoung AdultIntellectual DisabilityIntellectual disabilityGeneticsMedicineHumansAbnormalities MultipleGenetics (clinical)GeneticsComparative Genomic Hybridizationbusiness.industryMood DisordersMarfanoidChromosome MappingFaciesInfantSyndromemedicine.diseasePhenotypeMood disordersChild PreschoolBone maturationFemaleHuman medicineChromosomes Human Pair 3Chromosome DeletionbusinessJournal of medical genetics
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Characterization of 14 novel deletions underlying Rubinstein–Taybi syndrome: an update of the CREBBP deletion repertoire

2015

Rubinstein–Taybi syndrome (RSTS) is a rare, clinically heterogeneous disorder characterized by cognitive impairment and several multiple congenital anomalies. The syndrome is caused by almost private point mutations in the CREBBP (~55 % of cases) and EP300 (~8 %) genes. The CREBBP mutational spectrum is variegated and characterized by point mutations (30–50 %) and deletions (~10 %). The latter are diverse in size and genomic position and remove either the whole CREBBP gene and its flanking regions or only an intragenic portion. Here, we report 14 novel CREBBP deletions ranging from single exons to the whole gene and flanking regions which were identified by applying complementary cytomolecu…

AdultMaleAdolescentContiguous gene syndromeCohort StudiesExonGeneticmedicineGeneticsHumansPoint MutationCREB-binding proteinEP300ChildPreschoolGenetics (clinical)Sequence DeletionGeneticsRubinstein-Taybi Syndromebiologymedicine.diagnostic_testRubinstein–Taybi syndromeBase SequencePoint mutationMedicine (all)Infant NewbornInfantMiddle Agedmedicine.diseaseNewbornCREB-Binding ProteinHuman geneticsAdolescent; Adult; CREB-Binding Protein; Child; Child Preschool; Cohort Studies; Female; Humans; Infant; Infant Newborn; Male; Middle Aged; Rubinstein-Taybi Syndrome; Base Sequence; Point Mutation; Sequence Deletion; Genetics (clinical); Genetics; Medicine (all)Child Preschoolbiology.proteinFemaleCohort StudieAdolescent; Adult; CREB-Binding Protein; Child; Child Preschool; Cohort Studies; Female; Humans; Infant; Infant Newborn; Male; Middle Aged; Rubinstein-Taybi Syndrome; Base Sequence; Point Mutation; Sequence Deletion; Medicine (all); Genetics; Genetics (clinical)Fluorescence in situ hybridizationHuman
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