POLLI, ROBERTA

POLLI, ROBERTA  

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Titolo Data di pubblicazione Autori Rivista Serie Titolo libro
A Missense de Novo Variant in the CASK -interactor KIRREL3 Gene Leading to Neurodevelopmental Disorder with Mild Cerebellar Hypoplasia 2021 Leonardi E.Polli R.Murgia A. + NEUROPEDIATRICS - -
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 - -
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 - -
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 - -
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 - -
A Supervised Classification of Children with Fragile X Syndrome and Controls Based on Kinematic and sEMG Parameters 2022 Weronika Joanna PiatkowskaFabiola SpolaorMarco RomanatoRoberta PolliAlessandra MurgiaZimi Sawacha + APPLIED SCIENCES - -
AGG interruptions and maternal age affect FMR1 CGG repeat allele stability during transmission 2014 MURGIA, ALESSANDRARoberta Polli + JOURNAL OF NEURODEVELOPMENTAL DISORDERS - -
Allele drop out and MECP2 genetic testing 2012 BETTELLA, ELISAPOLLI, ROBERTALEONARDI, EMANUELAMURGIA, ALESSANDRA - - -
Alterations in surface EMG during gait in children with Fragile X Syndrome 2020 Sawacha Z.Spolaor F.Piatkowska W.Cibin F.Pavan D.Guiotto A.Polli R.Murgia A. + GAIT & POSTURE - -
Amplification of the Xq28 FRAXE repeats: extreme phenotype variability? 1996 MURGIA, ALESSANDRAR. POLLIDRIGO, PAOLAZACCHELLO, FRANCO + AMERICAN JOURNAL OF MEDICAL GENETICS - -
Angelman Syndrome due to a novel splicing mutation of the UBE3A gene. 2008 SARTORI, STEFANOPOLLI RTOLDO, IRENECASARIN, ALBERTODRIGO, PAOLAMURGIA, ALESSANDRA + JOURNAL OF CHILD NEUROLOGY - -
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 - -
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 - -
Clinical advantages from the molecular analysis of the Cx26 gene in preverbal sensorineural deafness. 2000 MURGIA, ALESSANDRAPOLLI RMARTELLA, MADDALENA + RIVISTA ITALIANA DI PEDIATRIA - -
Clinical and molecular description of 19 patients with GATAD2B-Associated Neurodevelopmental Disorder (GAND) 2020 Emanuela LeonardiRoberta PolliAlessandra Murgia + EUROPEAN JOURNAL OF MEDICAL GENETICS - -
Cluster analysis of electromyographic data in children with Fragile X Syndrome and controls 2020 Piatkowska WSawacha ZSpolaor FRomanato MCibin FPavan DGuiotto APolli RMurgia A + GAIT & POSTURE - -
Connexin 26 preverbal hearing impairment: mutation prevalence and heterozygosity in a selected population. 2002 MURGIA, ALESSANDRAPolli R + INTERNATIONAL JOURNAL OF AUDIOLOGY - -
Cx26 deafness: mutation analysis and clinical variability 1999 MURGIA, ALESSANDRAPOLLI R.LEONARDI E.ARSLAN, EDOARDOZACCHELLO, FRANCO + JOURNAL OF MEDICAL GENETICS - -
Distribution of AGG interruption patterns within nine world populations 2014 POLLI, ROBERTAMURGIA, ALESSANDRA + IRDR - -
Dominio "GAP-related" e funzione del gene NF1 nei tumori 1996 MURGIA, ALESSANDRAPERILONGO GPOLLI RANGLANI, FRANCA + - - 2° Congresso Nazionale sulle Neurofibromatosi