PERON, ANGELA

PERON, ANGELA  

Dipartimento di Scienze della Salute  

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Titolo Data di pubblicazione Autori Tipo File Abstract
Modeling RTT Syndrome by iPSC-Derived Neurons from Male and Female Patients with Heterogeneously Severe Hot-Spot MECP2 Variants 2022 Alari, ValentinaVimercati, AlessandroGarzo, MariaMilani, DonatellaVignoli, AglaiaPeron, AngelaLarizza, LidiaRusso, Silvia + Article (author) -
Phenotypes in adult patients with Rett syndrome : results of a 13-year experience and insights into healthcare transition 2022 Peron, AngelaCanevini, Maria PaolaGhelma, FilippoVignoli, Aglaia + Article (author) -
BCL11A intellectual developmental disorder: defining the clinical spectrum and genotype-phenotype correlations 2021 Angela Peron + Article (author) -
TUBEROUS SCLEROSIS COMPLEX: IDENTIFICATION OF THE GENETIC CAUSE IN PATIENTS WITH NO MUTATION DETECTED, AND ANALYSIS OF MOSAICISM 2021 PERON, ANGELA Doctoral Thesis -
SLC35F1 as a candidate gene for neurodevelopmental disorders resembling Rett syndrome 2021 Di Fede E.Peron A.Colombo E. A.Gervasini C.Vignoli A. Article (author) -
Beyond the Guidelines: How We Can Improve Healthcare for People With Tuberous Sclerosis Complex Around the World 2021 Peron A. + Article (author) -
8p23.2-pter Microdeletions: Seven New Cases Narrowing the Candidate Region and Review of the Literature 2021 Maria Paola CaneviniAngela Peron + Article (author) -
Exploring the role of matrix metalloproteinases as biomarkers in sporadic lymphangioleiomyomatosis and tuberous sclerosis complex. A pilot study 2021 Silvia TerraneoElena LesmaSilvia AnconaGiuseppina PalumboStefano CentanniAngela PeronPaola CetrangoloFabiano Di Marco + Article (author) -
Epilepsy in adult patients with tuberous sclerosis complex 2021 Vignoli, AglaiaPeron, AngelaBruschi, FabioCanevini, Maria Paola + Article (author) -
Seizure outcome after epilepsy surgery in tuberous sclerosis complex: Results and analysis of predictors from a multicenter study 2021 C. VannicolaF. La BriolaA. PeronK. TurnerA. VignoliM. P. Canevini + Article (author) -
Chromatin Imbalance as the Vertex Between Fetal Valproate Syndrome and Chromatinopathies 2021 Parodi, ChiaraDi Fede, ElisabettaPeron, AngelaViganò, IlariaGrazioli, PaoloCastiglioni, SilviaGervasini, CristinaVignoli, AglaiaMassa, Valentina + Article (author) -
Detailed Clinical and Psychological Phenotype of the X-linked HNRNPH2-Related Neurodevelopmental Disorder 2021 Peron, Angela + Article (author) -
Sleep and behavior in children and adolescents with tuberous sclerosis complex 2021 Peron A.Leidi A.Vignoli A.Canevini M. P. + Article (author) -
Snyder-Robinson syndrome : Synonym: Spermine Synthase Deficiency 2020 Angela Peron + Book Part (author) -
Aortic dilation in Sotos syndrome : an underestimated feature? 2020 Pezzani L.Peron A.Marchisio P. G.Colli A.Milani D. + Article (author) -
Tuberous sclerosis complex (TSC), lymphangioleiomyomatosis, and COVID-19 : the experience of a TSC clinic in Italy 2020 Peron A.La Briola F.Bruschi F.Terraneo S.Vannicola C.Previtali R.Perazzoli S.Morenghi E.Bulfamante G.Vignoli A.Canevini M. P. Article (author) -
Missense variants in the Arg206 residue of HNRNPH2: Further evidence of causality and expansion of the phenotype 2020 Peron A.Vignoli A.Canevini M. P. + Article (author) -
De novo ARHGEF9 missense variants associated with neurodevelopmental disorder in females: expanding the genotypic and phenotypic spectrum of ARHGEF9 disease in females 2020 Turner K.Peron A.Vignoli A. + Article (author) -
Ring Chromosome 20 Syndrome : Genetics, Clinical Characteristics, and Overlapping Phenotypes 2020 Peron, AngelaCatusi, IlariaRecalcati, Maria PaolaLarizza, LidiaVignoli, AglaiaCanevini, Maria Paola + Article (author) -
De novo SMARCA2 variants clustered outside the helicase domain cause a new recognizable syndrome with intellectual disability and blepharophimosis distinct from Nicolaides–Baraitser syndrome 2020 Maitz S.Milani D.Peron A. + Article (author) -