BESTETTI, ILARIA

BESTETTI, ILARIA  

Universita' degli Studi di MILANO  

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Titolo Data di pubblicazione Autori Tipo File Abstract
Long-read sequencing reveals chromothripsis in a molecularly unsolved case of Cornelia de Lange syndrome 2024 Bestetti I.Tumiatti F.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) -
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) -
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) -
SETD5 Gene Haploinsufficiency in Three Patients With Suspected KBG Syndrome 2020 Crippa M.Bestetti I.Maitz S.Spano A.Masciadri M.Larizza L.Finelli P. + Article (author) -
Fundamental role of BMP15 in human ovarian folliculogenesis revealed by null and missense mutations associated with primary ovarian insufficiency 2020 Rossetti, RaffaellaFerrari, IlariaBestetti, IlariaMoleri, SilviaFinelli, PalmaPersani, Luca + Article (author) -
9q34.3 microduplications lead to neurodevelopmental disorders through EHMT1 overexpression 2019 Castronovo CSironi AZimbalatti DBestetti ICrippa MLarizza LFinelli 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) -
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) -
DNA copy number variations in a cohort of 216 Italian women with premature ovarian failure 2018 A. MarozziP. FinelliI. Bestetti + Conference Object -
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 -
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) -
A balanced reciprocal translocation t(10;15)(q22.3;q26.1) interrupting ACAN gene in a family with proportionate short stature 2018 M. CrippaS. GiangiobbeR. VillaI. BestettiL. FattiTAURINO, JACOPOL. LarizzaL. PersaniF. BelliniP. Finelli + 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 -
GENOME WIDE ANALYSIS IN A COHORT OF 46,XX PATIENTS AFFECTED BY AN EXTREME PHENOTYPE OF PRIMARY OVARIAN INSUFFICIENCY: AN EFFICIENT TOOL TO IDENTIFY NEW GENES INVOLVED IN OOCYTE MATURATION AND DIFFERENTIATION 2016 I. Bestetti Doctoral Thesis -
Constitutional de novo deletion of the FBXW7 gene in a patient with focal segmental glomerulosclerosis and multiple primitive tumors 2015 I. BestettiM. CrippaP. Finelli + Article (author) -
Familial intragenic duplication of ANKRD11 underlying three patients of KBG syndrome 2015 M. CrippaD. RusconiC. CastronovoI. BestettiL. LarizzaP. Finelli + Article (author) -
Complex de novo chromosomal rearrangement at 15q11-q13 involving an intrachromosomal triplication in a patient with a severe neuropsychological phenotype: Clinical report and review of the literature. 2015 C. CastronovoM. CrippaI. BestettiD. RusconiL. LarizzaP. Finelli + Article (author) -
Regulatory element deletion cause a down-regulation of ZDHHC15 gene in a proband with Smith Magenis syndrome phenotype 2014 I. BestettiS. SirchiaL. PaganiniL. LarizzaP. Finelli + Conference Object -