0000000001103530

AUTHOR

A Selicorni

showing 2 related works from this author

CNS involvement in OFD1 syndrome: a clinical, molecular, and neuroimaging study

2014

Background Oral-facial-digital type 1 syndrome (OFD1; OMIM 311200) belongs to the expanding group of disorders ascribed to ciliary dysfunction. With the aim of contributing to the understanding of the role of primary cilia in the central nervous system (CNS), we performed a thorough characterization of CNS involvement observed in this disorder. Methods A cohort of 117 molecularly diagnosed OFD type I patients was screened for the presence of neurological symptoms and/or cognitive/behavioral abnormalities on the basis of the available information supplied by the collaborating clinicians. Seventy-one cases showing CNS involvement were further investigated through neuroimaging studies and neur…

Central nervous systemNeuroimagingNeuropsychological TestsPharmacologyBioinformaticsSettore MED/03 - GENETICA MEDICACiliopathiesCohort Studies03 medical and health sciences0302 clinical medicineNeuroimagingCentral Nervous System DiseasesmedicineHumansGenetics(clinical)Pharmacology (medical)Orofaciodigital type 1Ciliopathies; Neurodevelopmental phenotype; Neuroimaging; OFD1; Central Nervous System Diseases; Cohort Studies; Female; Humans; Magnetic Resonance Imaging; Mutation; Neuropsychological Tests; Orofaciodigital Syndromes; Medicine (all); Genetics (clinical); Pharmacology (medical)Agenesis of the corpus callosumGenetics (clinical)030304 developmental biologyMedicine(all)0303 health sciencesbusiness.industryMedicine (all)ResearchCiliumNeuropsychologyCognitionGeneral MedicineOrofaciodigital Syndromesmedicine.diseasecentral nervous systemMagnetic Resonance ImagingPorencephalyCiliopathies3. Good healthmedicine.anatomical_structureMutationFemaleNeurodevelopmental phenotypeOFD1business030217 neurology & neurosurgeryOrphanet Journal of Rare Diseases
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Intersociety policy statement on the use of whole-exome sequencing in the critically ill newborn infant.

2017

Abstract The rapid advancement of next-generation sequencing (NGS) technology and the decrease in costs for whole-exome sequencing (WES) and whole-genome sequening (WGS), has prompted its clinical application in several fields of medicine. Currently, there are no specific guidelines for the use of NGS in the field of neonatal medicine and in the diagnosis of genetic diseases in critically ill newborn infants. As a consequence, NGS may be underused with reduced diagnostic success rate, or overused, with increased costs for the healthcare system. Most genetic diseases may be already expressed during the neonatal age, but their identification may be complicated by nonspecific presentation, esp…

0301 basic medicineMaleNeonatal intensive care unitDiseaseReview030105 genetics & heredityPediatricsWhole Exome SequencingNeonateNeonatalOutcome Assessment Health CareDiagnosisPolicy MakingExome sequencingSanger sequencingGenomelcsh:RJ1-570Perinatology and Child HealthSettore MED/38Intensive Care UnitsItalyWhole-exome sequencingPractice Guidelines as TopicsymbolsWESFemaleHumanDiagnosiNICUmedicine.medical_specialtyMendelian03 medical and health sciencessymbols.namesakeOutcome Assessment (Health Care)Neonatal ScreeningNeonatal intensive care unitGeneticIntensive Care Units NeonatalExome SequencingmedicineDiagnosis; Genetic; Genome; Mendelian; Neonatal intensive care unit; Neonate; NICU; WES; WGS; Whole-exome sequencing; Pediatrics Perinatology and Child HealthHumansGenetic TestingIntensive care medicineSettore MED/06 - ONCOLOGIA MEDICAGenetic heterogeneityCritically illbusiness.industryGenome HumanInfant NewbornInfantlcsh:PediatricsNewbornInfant newborn030104 developmental biologyDiagnosis; Genetic; Genome; Mendelian; NICU; Neonatal intensive care unit; Neonate; WES; WGS; Whole-exome sequencing; Female; Genetic Testing; Genome Human; Humans; Infant; Infant Newborn; Intensive Care Units Neonatal; Italy; Male; Neonatal Screening; Outcome Assessment (Health Care); Policy Making; Whole Exome Sequencing; Practice Guidelines as TopicPediatrics Perinatology and Child HealthDifferential diagnosisbusinessWGS
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