0000000000772431

AUTHOR

Antonella Di Fiore

showing 5 related works from this author

LA MALATTIA DI KAWASAKI: LA CASISTICA DELLA CLINICA PEDIATRICA DI PALERMO

2010

Settore MED/38 - Pediatria Generale E SpecialisticaMALATTIA DI KAWASAKI
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A scoring system for biliary atresia: Is this the right one?

2014

medicine.medical_specialtyScoring systemHepatologyBiliary atresiabusiness.industryGastroenterologymedicinemedicine.diseasebusinessSurgeryDigestive and Liver Disease
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14q13.1-21.1 deletion encompassing the HPE8 locus in an adolescent with intellectual disability and bilateral microphthalmia, but without holoprosenc…

2011

Interstitial deletions involving 14q13.1q21.1 are rare. In the literature at least 10 cases involving this region have been described and all patients showed a phenotype within the holoprosencephaly (HPE) spectrum. Previous studies suggested the HPE8 region as a candidate locus for HPE at 14q13. We report an adolescent with a 14q13.1q21.1 deletion encompassing the HPE8 region associated with intellectual disability (ID), bilateral microphthalmia, and coloboma, without cerebral anomalies typical of HPE. Except for ocular defects (i.e., microphthalmia, coloboma) consistent with HPE-type anomalies, the minor facial dysmorphia was not suggestive for HPE and the absence of cerebral anomalies sho…

Malemusculoskeletal diseasescongenital hereditary and neonatal diseases and abnormalitiesCandidate geneAdolescentID/MCA deletion syndromeLocus (genetics)MicrophthalmiamicroformSettore MED/38 - Pediatria Generale E SpecialisticaHoloprosencephalyIntellectual DisabilityIntellectual disabilityGeneticsmedicineHumansMicrophthalmoschromosome 14q deletionIn Situ Hybridization FluorescenceGenetics (clinical)Sequence DeletionChromosomes Human Pair 14GeneticsComparative Genomic HybridizationColobomabiologybusiness.industryNPAS3Faciesmedicine.diseaseeye diseasesDevelopmental disorderPhenotypeholoprosencephalySettore MED/03 - Genetica MedicaGenetic Lociarray-CGHbiology.proteinbusinessAmerican Journal of Medical Genetics Part A
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Identification of two new mutations in TRPS 1 gene leading to the tricho-rhino-phalangeal syndrome type I and III.

2009

GeneticsAdolescentBase SequenceLanger-Giedion SyndromeDNA Mutational AnalysisMolecular Sequence DataInfantBiologymedicine.diseaseDNA-Binding ProteinsRepressor ProteinsSettore MED/38 - Pediatria Generale E SpecialisticaSettore MED/03 - Genetica MedicaMutationGeneticsmedicineTricho–rhino–phalangeal syndromeHumansIdentification (biology)FemaleTRICHO-RHINO-PHALNAGEAL SYNDORME TRPS GENEChildGeneGenetics (clinical)Transcription FactorsAmerican journal of medical genetics. Part A
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EDEMA EMORRAGICO ACUTO DEL LATTANTE: DESCRIZIONE DI UN CASO

2009

Lattante edema emorragicoSettore MED/38 - Pediatria Generale E Specialistica
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