FINELLI, PALMA

FINELLI, PALMA  

Dipartimento di Biotecnologie Mediche e Medicina Traslazionale  

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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) -
A case of 18p chromosomal deletion encompassing GNAL in a patient with dystonia-parkinsonism 2024 Monfrini, EdoardoFinelli, Palma + Article (author) -
DIS3 depletion in multiple myeloma causes extensive perturbation in cell cycle progression and centrosome amplification 2023 Favasuli, Vanessa KRonchetti, DomenicaSilvestris, IlariaTraini, ValentinaTodoerti, KatiaErratico, SilviaGiannandrea, DomenicaTumiatti, FrancescaChiaramonte, RaffaellaTorrente, YvanFinelli, PalmaBolli, NiccolòNeri, Antonino + Article (author) -
Germline NUP98 Variants in Two Siblings with a Rothmund–Thomson-Like Spectrum: Protein Functional Changes Predicted by Molecular Modeling 2023 Elisa Adele ColomboPalma FinelliCristina Gervasini + Article (author) -
Smith-Magenis syndrome-Clinical review, biological background and related disorders 2022 Alessandra SironiPalma Finelli + 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) -
Histone deacetylase inhibitors ameliorate morphological defects and hypoexcitability of iPSC-neurons from Rubinstein-Taybi patients 2021 Scalmani P.Catusi I.Lonati P. A.Borghi M. O.Finelli P.Terragni B.Larizza L. + 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) -
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) -
Transcriptome Analysis of iPSC-Derived Neurons from Rubinstein-Taybi Patients Reveals Deficits in Neuronal Differentiation 2020 Alari V.Braga D.Barlassina C.Finelli P.Gervasini C. + 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) -
A familial t(4;8) translocation segregates with epilepsy and migraine with aura 2020 Crippa M.Larizza L.Finelli P. + Article (author) -
Developmental disorders with intellectual disability driven by chromatin dysregulation: Clinical overlaps and molecular mechanisms 2019 P. Finelli + Article (author) -
9q34.3 microduplications lead to neurodevelopmental disorders through EHMT1 overexpression 2019 Castronovo CSironi AZimbalatti DBestetti ICrippa MLarizza LFinelli P. + Article (author) -
Exploring by whole exome sequencing patients with initial diagnosis of Rubinstein–Taybi syndrome : the interconnections of epigenetic machinery disorders 2019 Crippa, MilenaDi Fede, ElisabettaColombo, Elisa AdeleFinelli, PalmaGervasini, Cristina + Article (author) -
Generation of three iPSC lines (IAIi002, IAIi004, IAIi003) from Rubinstein-Taybi syndrome 1 patients carrying CREBBP non sense c.4435G>T, p.(Gly1479*) and c.3474G>A, p.(Trp1158*) and missense c.4627G>T, p.(Asp1543Tyr) mutations 2019 Crippa M.Finelli P.Gervasini C. + 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) -
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) -
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) -