Publications by authors named "Palma Finelli"

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What Should a Clinical Cardiologist Know About Cardiogenetics?
Andrea Faggiano, Margherita Maria Calcagnino, Marco Merlo, Matteo Dal Ferro, Francesco Moda, Palma Finelli

J Am Heart Assoc· December 2025

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Portrait of a Spectrum: Clinical and Genetic Characterization of a Large Cohort of Chromatinopathies-30 Years' Experience From a Third Level Center.
Giulia Bruna Marchetti, Erica Rosina, Camilla Meossi, Michela Mura, Lidia Pezzani, Palma Finelli

Clin Genet· November 2025

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An intragenic duplication in the AFF2 gene associated with Cornelia de Lange syndrome phenotype.
Cristina Lucia-Campos, Ilaria Parenti, Ana Latorre-Pellicer, Marta Gil-Salvador, Ilaria Bestetti, Palma Finelli

Front Genet· November 2024

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Editorial: The clinical utility of long read sequencing to improve diagnostic yield and uncover biological mechanisms in rare disease.
Lidia Larizza, Christopher M Watson, Madelyn A Gillentine, Palma Finelli

Front Genet· October 2024

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A Novel KIDINS220 Pathogenic Variant Associated with the Syndromic Spastic Paraplegia SINO: An Expansion of the Brain Malformation Spectrum and a Literature Review.
Maria Teresa Bonati, Cristina Baldoli, Jacopo Taurino, Daniela Marchetti, Lidia Larizza, Palma Finelli

Genes (Basel)· September 2024

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A Case of 18p Chromosomal Deletion Encompassing GNAL in a Patient With Dystonia-Parkinsonism.
Giulia Di Rauso, Francesco Cavallieri, Edoardo Monfrini, Alessandro Fraternali, Valentina Fioravanti, Palma Finelli

J Mov Disord· April 2024

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Long-read sequencing reveals chromothripsis in a molecularly unsolved case of Cornelia de Lange syndrome.
Ilaria Bestetti, Milena Crippa, Alessandra Sironi, Matteo Bellini, Francesca Tumiatti, Palma Finelli

Front Genet· March 2024

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depletion in multiple myeloma causes extensive perturbation in cell cycle progression and centrosome amplification.
Vanessa K Favasuli, Domenica Ronchetti, Ilaria Silvestris, Noemi Puccio, Giuseppina Fabbiano, Palma Finelli

Haematologica· January 2024

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Germline Variants in Two Siblings with a Rothmund-Thomson-Like Spectrum: Protein Functional Changes Predicted by Molecular Modeling.
Elisa Adele Colombo, Michele Valiante, Matteo Uggeri, Alessandro Orro, Silvia Majore, Palma Finelli

Int J Mol Sci· February 2023

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A unique Smith-Magenis patient with a de novo intragenic deletion on the maternally inherited overexpressed RAI1 allele.
Alessandra Sironi, Ilaria Bestetti, Maura Masciadri, Francesca Tumiatti, Milena Crippa, Palma Finelli

Eur J Hum Genet· November 2022

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Expanding the Molecular Spectrum of Gene Defects in 33 Patients with a Clinical Presentation of KBG Syndrome.
Ilaria Bestetti, Milena Crippa, Alessandra Sironi, Francesca Tumiatti, Maura Masciadri, Palma Finelli

Int J Mol Sci· May 2022

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Smith-Magenis Syndrome-Clinical Review, Biological Background and Related Disorders.
Berardo Rinaldi, Roberta Villa, Alessandra Sironi, Livia Garavelli, Palma Finelli

Genes (Basel)· February 2022

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Histone Deacetylase Inhibitors Ameliorate Morphological Defects and Hypoexcitability of iPSC-Neurons from Rubinstein-Taybi Patients.
Valentina Alari, Paolo Scalmani, Paola Francesca Ajmone, Sara Perego, Sabrina Avignone, Palma Finelli

Int J Mol Sci· May 2021

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Transcriptome Analysis of iPSC-Derived Neurons from Rubinstein-Taybi Patients Reveals Deficits in Neuronal Differentiation.
Luciano Calzari, Matteo Barcella, Valentina Alari, Daniele Braga, Rafael Muñoz-Viana, Palma Finelli

Mol Neurobiol· September 2020

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Gene Haploinsufficiency in Three Patients With Suspected KBG Syndrome.
Milena Crippa, Ilaria Bestetti, Silvia Maitz, Karin Weiss, Alice Spano, Palma Finelli

Front Neurol· July 2020

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Fundamental role of BMP15 in human ovarian folliculogenesis revealed by null and missense mutations associated with primary ovarian insufficiency.
Raffaella Rossetti, Ilaria Ferrari, Ilaria Bestetti, Silvia Moleri, Francesco Brancati, Palma Finelli

Hum Mutat· May 2020

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A familial t(4;8) translocation segregates with epilepsy and migraine with aura.
Milena Crippa, Paola Malatesta, Maria Teresa Bonati, Francesco Trapasso, Francesco Fortunato, Palma Finelli

Ann Clin Transl Neurol· May 2020

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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.
Valentina Alari, Silvia Russo, Davide Rovina, Maria Garzo, Milena Crippa, Palma Finelli

Stem Cell Res· October 2019

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Molecular Etiology Disclosed by Array CGH in Patients With Silver-Russell Syndrome or Similar Phenotypes.
Milena Crippa, Maria Teresa Bonati, Luciano Calzari, Chiara Picinelli, Cristina Gervasini, Palma Finelli

Front Genet· October 2019

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9q34.3 microduplications lead to neurodevelopmental disorders through EHMT1 overexpression.
Maria Teresa Bonati, Chiara Castronovo, Alessandra Sironi, Dario Zimbalatti, Ilaria Bestetti, Palma Finelli

Neurogenetics· August 2019

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Exploring by whole exome sequencing patients with initial diagnosis of Rubinstein-Taybi syndrome: the interconnections of epigenetic machinery disorders.
Gloria Negri, Pamela Magini, Donatella Milani, Milena Crippa, Elisa Biamino, Palma Finelli

Hum Genet· March 2019

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Segmental Maternal UPD of Chromosome 7q in a Patient With Pendred and Silver Russell Syndromes-Like Features.
Valentina Cirello, Valentina Giorgini, Chiara Castronovo, Susan Marelli, Ester Mainini, Palma Finelli

Front Genet· November 2018

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13q mosaic deletion including associated to mild phenotype and no cancer outcome - case report and review of the literature.
Ilaria Bestetti, Alessandra Sironi, Ilaria Catusi, Milena Mariani, Daniela Giardino, Palma Finelli

Mol Cytogenet· September 2018

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iPSC-derived neurons of CREBBP- and EP300-mutated Rubinstein-Taybi syndrome patients show morphological alterations and hypoexcitability.
Valentina Alari, Silvia Russo, Benedetta Terragni, Paola Francesca Ajmone, Alessandra Sironi, Palma Finelli

Stem Cell Res· July 2018

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Generation of the Rubinstein-Taybi syndrome type 2 patient-derived induced pluripotent stem cell line (IAIi001-A) carrying the EP300 exon 23 stop mutation c.3829A > T, p.(Lys1277*).
Valentina Alari, Silvia Russo, Davide Rovina, Aoife Gowran, Maria Garzo, Palma Finelli

Stem Cell Res· July 2018

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