SIRONI, ALESSANDRA

SIRONI, ALESSANDRA  

Universita' degli Studi di MILANO  

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Titolo Data di pubblicazione Autori Tipo File Abstract
A unique Smith-Magenis patient with a de novo intragenic deletion on the maternally inherited overexpressed RAI1 allele 2022 Sironi A.Bestetti I.Masciadri M.Tumiatti F.Crippa M.Larizza L.Finelli P. + Article (author) -
Expanding the Molecular Spectrum of ANKRD11 Gene Defects in 33 Patients with a Clinical Presentation of KBG Syndrome 2022 Bestetti I.Sironi A.Tumiatti F.Finelli P. + Article (author) -
Smith-Magenis syndrome-Clinical review, biological background and related disorders 2022 Alessandra SironiPalma Finelli + Article (author) -
Targeted whole exome sequencing and Drosophila modelling to unveil the molecular basis of primary ovarian insufficiency 2021 Bestetti, ISironi, ACaslini, CGentilini, DCrippa, MLarizza, LMarozzi, AFinelli, P + Article (author) -
UNVEILING MOLECULAR PATHWAYS DISRUPTED IN SMS AND SMS-LIKE PATIENTS BY MEANS OF GENOMIC AND FUNCTIONAL APPROACHES 2020 SIRONI, ALESSANDRA Doctoral Thesis -
High-resolution array-CGH analysis on 46,XX patients affected by early onset primary ovarian insufficiency discloses new genes involved in ovarian function 2019 Bestetti, ISironi, ACaslini, CCrippa, MFerrari, IPistocchi, APersani, LMarozzi, AFinelli, P + Article (author) -
Molecular Etiology Disclosed by Array CGH in Patients With Silver–Russell Syndrome or Similar Phenotypes 2019 Crippa, MilenaGervasini, CristinaSironi, AlessandraBestetti, IlariaRusso, SilviaLarizza, LidiaFinelli, Palma + Article (author) -
9q34.3 microduplications lead to neurodevelopmental disorders through EHMT1 overexpression 2019 Castronovo CSironi AZimbalatti DBestetti ICrippa MLarizza LFinelli P. + Article (author) -
iPSC-derived neurons of CREBBP- and EP300-mutated Rubinstein-Taybi syndrome patients show morphological alterations and hypoexcitability 2018 Terragni, BenedettaSironi, AlessandraCatusi, IlariaGervasini, CristinaFinelli, Palma + Article (author) -
RAI1 intragenic deletion and concomitant overexpression in a syndromic patient: Smith-Magenis or Potocki-Lupski syndrome? 2018 Sironi ABestetti IBoninsegna CLarizza LFinelli P + Conference Object -
Rothmund-Thomson syndrome: Insights from new patients on the genetic variability underpinning clinical presentation and cancer outcome 2018 E. A. ColomboA. LocatelliA. SironiL. FontanaP. FinelliC. GervasiniL. Larizza + Article (author) -
13q mosaic deletion including RB1 associated to mild phenotype and no cancer outcome-case report and review of the literature 2018 Bestetti I.Sironi A.Catusi I.Mariani M.Larizza L.Castronovo C.Finelli P. + Article (author) -
Segmental Maternal UPD of Chromosome 7q in a Patient With Pendred and Silver Russell Syndromes-Like Features 2018 Cirello VGiorgini VCastronovo CSironi ALarizza LPersani LFinelli PFugazzola L. + Article (author) -
MBD5 molecular screening on Smith Magenis-like Syndrome patients without the typical 17p11.2 deletion 2016 M. SciarrilloI. BestettiA. SironiP. Finelli + Conference Object -
Microdeletion in two unrelated patients with intellectual disability 2016 SCIARRILLO, MARIASIRONI, ALESSANDRAI. BestettiP. Finelli + Conference Object -
Submicroscopic genomic alterations detected by array CGH analysis in a cohort of patients with Silver Russell syndrome found negative to classical genetic and epigenetic tests 2014 M. CrippaA. SironiL. LarizzaP. Finelli + Conference Object -
Central nervous system developmental disorder in Noonan syndrome: a genomic approach 2014 M. CrippaI. BestettiA. SironiP. Finelli + Conference Object -