BETTELLA, ELISA

BETTELLA, ELISA  

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Titolo Data di pubblicazione Autori Rivista Serie Titolo libro
Molecular diagnosis in Rett Sindrome: the experience of a referring centre for rare diseases in the north-est of Italy. 2007 POLLI RLEONARDI EBETTELLA ETOLDO, IRENEBATTISTELLA, PIER ANTONIOSARTORI, STEFANOMURGIA, ALESSANDRA + - - European Workin Group on Rett Sindrome
A novel CDKL5 mutation in a 47,XXY boy with the early-onset seizure variant of Rett syndrome. 2009 Sartori SPolli RBettella EMURGIA, ALESSANDRA + AMERICAN JOURNAL OF MEDICAL GENETICS. PART A - -
Familial Ohtahara syndrome due to a novel ARX gene mutation 2010 Sartori SBettella EMURGIA, ALESSANDRA + AMERICAN JOURNAL OF MEDICAL GENETICS. PART A - -
A PATHOGENIC ROLE OF THE X-LINKED CYCLIN-DEPENDENT KINASE-LIKE 5 AND ARISTALESS-RELATED HOMEOBOX GENES IN EPILEPTIC ENCEPHALOPATHY OF UNKNOWN ETIOLOGY WITH ONSET IN THE FIRST YEAR OF LIFE 2011 SARTORI SPOLLI RBETTELLA ETOLDO, IRENEPERILONGO, GIORGIOMURGIA, ALESSANDRA + JOURNAL OF CHILD NEUROLOGY - -
Genetic variations in the MeCP2 3'UTR and in the ARX gene influence the pathogenesis of neurodevelopmental disorders 2011 Bettella, Elisa - - -
Allele drop out and MECP2 genetic testing 2012 BETTELLA, ELISAPOLLI, ROBERTALEONARDI, EMANUELAMURGIA, ALESSANDRA - - -
Novel CDKL5 splicing variant in a boy with early-onset seizures 2012 POLLI, ROBERTALEONARDI, EMANUELABETTELLA, ELISAMURGIA, ALESSANDRA + AMERICAN JOURNAL OF HUMAN GENETICS - -
Early-onset epileptic encephalopathy in a girl carrying a truncating mutation of the ARX gene: rethinking the ARX phenotype in females 2013 BETTELLA, ELISAPOLLI, ROBERTALEONARDI, EMANUELASARTORI, STEFANOMURGIA, ALESSANDRA + CLINICAL GENETICS - -
Identification of Four NovelPCDH19Mutations and Prediction of Their Functional Impact 2014 Emanuela LeonardiStefano SartoriBETTELLA, ELISARoberta PolliMURGIA, ALESSANDRA + ANNALS OF HUMAN GENETICS - -
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
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
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
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
Brain malformations associated to Aldh7a1 gene mutations: Report of a novel homozygous mutation and literature review 2018 Toldo, IreneBONARDI, CLAUDIA MARIABettella, ElisaPolli, RobertaTalenti, GiacomoBurlina, AlbertoSartori, StefanoMurgia, Alessandra EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY - -
A novel mutation of the EYA4 gene associated with post-lingual hearing loss in a proband is co-segregating with a novel PAX3 mutation in two congenitally deaf family members 2018 CESCA, FEDERICABETTELLA, ELISAPOLLI, ROBERTACAMA, ELONASCIMEMI, PIETROSANTARELLI, ROSAMARIAMURGIA, ALESSANDRA INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY - -
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 - -
Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders 2019 Bettella E.Liu C.Long M.Zhao W.Hu Z.Castiglia L.Zhu B.Sartori S.Murgia A. + NATURE COMMUNICATIONS - -
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 - -
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 - -
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