ASPROMONTE, MARIA CRISTINA

ASPROMONTE, MARIA CRISTINA  

Dipartimento di Scienze Biomediche - DSB  

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Risultati 1 - 17 di 17 (tempo di esecuzione: 0.033 secondi).
Titolo Data di pubblicazione Autori Rivista Serie Titolo libro
A Novel WAC Loss of Function Mutation in an Individual Presenting with Encephalopathy Related to Status Epilepticus during Sleep (ESES) 2020 Leonardi E.Bellini M.Aspromonte M. C.Polli R.Bettella E.Cainelli E.Sartori S.Boniver C.Murgia A. + GENES - -
Assessment of patient clinical descriptions and pathogenic variants from gene panel sequences in the CAGI-5 intellectual disability challenge 2019 Carraro M.Monzon A. M.CHIRICOSTA, LUIGIREGGIANI, FRANCESCOAspromonte M. C.Bellini M.Ferrari C.Murgia A.Tosatto S. C. E.Leonardi E. + HUMAN MUTATION - -
Characterization of intellectual disability and autism comorbidity through gene panel sequencing 2019 Aspromonte M. C.BELLINI, MARIAGRAZIAGasparini A.Carraro M.Bettella E.Polli R.Cesca F.MILANI, DUCCIOSartori S.Toldo I.MARINO BUSLJE, CRISTINA ESTERTosatto S. C. E.Murgia A.Leonardi E. + HUMAN MUTATION - -
CNTNAP2 mutations and autosomal dominant epilepsy with auditory features 2018 Leonardi, EmanuelaDazzo, EmanuelaASPROMONTE, MARIA CRISTINATabaro, FrancescoPASCARELLI, STEFANOTosatto, Silvio C. E.Murgia, Alessandra + EPILEPSY RESEARCH - -
DisProt 7.0: A major update of the database of disordered proteins 2017 PIOVESAN, DAMIANOMICETIC, IVANNECCI, MARCOQUAGLIA, FEDERICAAspromonte, Maria CristinaGASPARINI, ALESSANDRAHATOS, ANDRÁSLEONARDI, EMANUELAMINERVINI, GIOVANNITONELLO, FIORELLATOSATTO, SILVIO + NUCLEIC ACIDS RESEARCH - -
DisProt in 2022: improved quality and accessibility of protein intrinsic disorder annotation 2022 Quaglia, FedericaSalladini, EdoardoHatos, AndrásPajkos, MátyásAspromonte, Maria CristinaBassot, ClaudioChasapi, AnastasiaDavey, Norman EDobson, LaszloElofsson, ArneGlavina, JulianaIserte, JavierLambrughi, MatteoLeonardi, EmanuelaLonghi, SoniaMaiani, EmilianoMarchetti, JuliaMonzon, Alexander MiguelMinervini, GiovanniNilsson, Juliet FPalopoli, NicolásPapaleo, ElenaVeljkovic, NevenaParisi, GustavoTosatto, Silvio C EPiovesan, Damiano + NUCLEIC ACIDS RESEARCH - -
DisProt in 2024: improving function annotation of intrinsically disordered proteins 2023 Maria Cristina AspromonteMaria Victoria NugnesKAMEL EDDINE ADEL BOUHRAOUASilvio C E TosattoDamiano Piovesan + NUCLEIC ACIDS RESEARCH - -
Effective Diagnosis of Neurodevelopmental Disorders (NDDs) by Computational Analysis and Next Generation Sequencing 2018 Maria Cristina AspromonteAlessandra GaspariniRoberta PolliElisa BettellaFederica CescaMarco CarraroStefano SartoriSilvio C. E. TosattoAlessandra MurgiaEmanuela Leonardi - - Effective Diagnosis of Neurodevelopmental Disorders (NDDs) by Computational Analysis and Next Generation Sequencing
Expanding the genetics and phenotypic spectrum of Lysine-specific demethylase 5C (KDM5C): a report of 13 novel mutations 2023 Emanuela LeonardiMaria Cristina AspromonteElisa BettellaRoberta PolliGiulia BonatoSerena PellegrinMiryam CarecchioAlessandra Murgia + EUROPEAN JOURNAL OF HUMAN GENETICS - -
Frequency of Usher gene mutations in non-syndromic hearing loss: higher variability of the Usher phenotype 2020 Cesca F.Bettella E.Polli R.Leonardi E.Aspromonte M. C.Cama E.Scimemi P.Santarelli R.Murgia A. + JOURNAL OF HUMAN GENETICS - -
High incidence of SHANK3 loss of function mutations in individuals with intellectual disability and autistic traits 2018 M. C. AspromonteAlessandra GaspariniRoberta PolliElisa BettellaFederica CescaM. BelliniStefano SartoriM. CarraroS. C. E. TosattoA. MurgiaE. Leonardi + - - High incidence of SHANK3 loss of function mutations in individuals with intellectual disability and autistic traits
Identification of SETBP1 Mutations by Gene Panel Sequencing in Individuals With Intellectual Disability or With “Developmental and Epileptic Encephalopathy” 2020 Leonardi E.Bettella E.Aspromonte M. C.Polli R.Sartori S.Murgia A. + FRONTIERS IN NEUROLOGY - -
MobiDB: 10 years of intrinsically disordered proteins 2023 Piovesan, DamianoDel Conte, AlessioClementel, DamianoMonzon, Alexander MiguelBevilacqua, MartinaAspromonte, Maria CristinaTosatto, Silvio C E + NUCLEIC ACIDS RESEARCH - -
PPP2R5D variants in patients with variable neurodevelopmental phenotype 2020 Maria Cristina AspromonteEmanuela LeonardiRoberta PolliElisa BettellaMarilena CameranAlessandra Murgia + - - PPP2R5D variants in patients with variable neurodevelopmental phenotype
TARGETED GENE PANEL FOR COMORBID NEUROLOGICAL DISORDERS 2016 Maria Cristina AspromonteAlessandra GaspariniMarco CarraroElisa BettellaRoberta PolliFederica CescaStefano SartoriIrene ToldoSilvio C. E. TosattoAlessandra MurgiaEmanuela Leonardi + - - TARGETED GENE PANEL FOR COMORBID NEUROLOGICAL DISORDERS
The Gene Ontology Knowledgebase in 2023 2023 Aspromonte, Maria CristinaNugnes, Maria VictoriaTosatto, Silvio + GENETICS - -
TRIO variants in individuals with variable intellectual deficits 2017 Maria Cristina AspromonteAlessandra GaspariniRoberta PolliElisa BettellaFederica CescaStefano SartoriMarco CarraroSilvio C. E. TosattoAlessandra MurgiaEmanuela Leonardi + - - TRIO variants in individuals with variable intellectual deficits