Publications by authors named "Elisa A Colombo"

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p300 inhibition delays premature cellular senescence.
Elisabetta Di Fede, Esi Taci, Silvia Castiglioni, Stefano Rebellato, Silvia Ancona, Elisa Adele Colombo

NPJ Aging· July 2025

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Expanding the clinical spectrum of PPP3CA variants - alternative isoforms matter.
Silvia Castiglioni, Laura Pezzoli, Lidia Pezzani, Antonella Lettieri, Elisabetta Di Fede, Elisa Adele Colombo

Orphanet J Rare Dis· December 2024

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Interdependence between Nuclear Pore Gatekeepers and Genome Caretakers: Cues from Genome Instability Syndromes.
Lidia Larizza, Elisa Adele Colombo

Int J Mol Sci· August 2024

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Intrauterine growth in chromatinopathies: A long road for better understanding and for improving clinical management.
Laura Avagliano, Silvia Castiglioni, Antonella Lettieri, Chiara Parodi, Elisabetta Di Fede, Elisa Adele Colombo

Birth Defects Res· July 2024

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Characterization of a novel HDAC2 pathogenetic variant: a missing puzzle piece for chromatinopathies.
Elisabetta Di Fede, Antonella Lettieri, Esi Taci, Silvia Castiglioni, Stefano Rebellato, Elisa Adele Colombo

Hum Genet· June 2024

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Dysfunction in IGF2R Pathway and Associated Perturbations in Autophagy and WNT Processes in Beckwith-Wiedemann Syndrome Cell Lines.
Silvana Pileggi, Elisa A Colombo, Silvia Ancona, Roberto Quadri, Clara Bernardelli

Int J Mol Sci· March 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

Int J Mol Sci· February 2023

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Epigenetic disorders: Lessons from the animals-animal models in chromatinopathies.
Elisabetta Di Fede, Paolo Grazioli, Antonella Lettieri, Chiara Parodi, Silvia Castiglioni, Elisa Adele Colombo

Front Cell Dev Biol· September 2022

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: Umbrella Gene for Multiple Diseases.
Silvia Castiglioni, Elisabetta Di Fede, Clara Bernardelli, Antonella Lettieri, Chiara Parodi, Elisa Adele Colombo

Genes (Basel)· March 2022

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Cohesin Mutations Induce Chromatin Conformation Perturbation of the / Imprinted Region and Gene Expression Dysregulation in Cornelia de Lange Syndrome Cell Lines.
Silvana Pileggi, Marta La Vecchia, Elisa Adele Colombo, Laura Fontana, Patrizia Colapietro

Biomolecules· November 2021

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Spontaneous chromosomal instability in peripheral blood lymphocytes from two molecularly confirmed Italian patients with Hereditary Fibrosis Poikiloderma: insights into cancer predisposition.
Gaia Roversi, Elisa Adele Colombo, Ivana Magnani, Cristina Gervasini, Giuseppe Maggiore

Genet Mol Biol· August 2021

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Pregnancy in a patient with Rothmund-Thomson type 2 syndrome.
Ludovica Bognoni, Elisa A Colombo, Manuela Priolo, Vincenzo Bognoni, Sara G Romeo

Int J Gynaecol Obstet· July 2021

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SLC35F1 as a candidate gene for neurodevelopmental disorders resembling Rett syndrome.
Elisabetta Di Fede, Angela Peron, Elisa Adele Colombo, Cristina Gervasini, Aglaia Vignoli

Am J Med Genet A· July 2021

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Biofilm Inhibition by Two (Cranberry) Urinary Metabolites: 5-(3',4'-DihydroxyPhenyl)-γ-Valerolactone and 4-Hydroxybenzoic Acid.
Emerenziana Ottaviano, Giovanna Baron, Laura Fumagalli, Jessica Leite, Elisa Adele Colombo

Microorganisms· July 2021

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Insights into the Role of the Microbiota and of Short-Chain Fatty Acids in Rubinstein-Taybi Syndrome.
Elisabetta Di Fede, Emerenziana Ottaviano, Paolo Grazioli, Camilla Ceccarani, Antonio Galeone, Elisa Adele Colombo

Int J Mol Sci· March 2021

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Expanding the phenotype associated to KMT2A variants: overlapping clinical signs between Wiedemann-Steiner and Rubinstein-Taybi syndromes.
Elisabetta Di Fede, Valentina Massa, Bartolomeo Augello, Gabriella Squeo, Emanuela Scarano, Elisa Adele Colombo

Eur J Hum Genet· January 2021

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Customised next-generation sequencing multigene panel to screen a large cohort of individuals with chromatin-related disorder.
Gabriella Maria Squeo, Bartolomeo Augello, Valentina Massa, Donatella Milani, Elisa Adele Colombo

J Med Genet· November 2020

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Phenotypic Overlap of Roberts and Baller-Gerold Syndromes in Two Patients With Craniosynostosis, Limb Reductions, and Mutations.
Elisa Adele Colombo, Hatice Mutlu-Albayrak, Yousef Shafeghati, Mine Balasar, Juliette Piard

Front Pediatr· May 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, Elisa Adele Colombo

Hum Genet· March 2019

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Assessment of intrafamilial clinical variability of poikiloderma with neutropenia by a 10-year follow-up of three affected siblings.
Daniela Concolino, Simona Sestito, Francesca Falvo, Giusy Romano, Miriam Ceravolo, Elisa A Colombo

Eur J Med Genet· January 2019

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Insights into Mutation Effect in Three Poikiloderma with Neutropenia Patients by Transcript Analysis and Disease Evolution of Reported Patients with the Same Pathogenic Variants.
Elisa A Colombo, Nursel H Elcioglu, Claudio Graziano, Pamela Farinelli, Elisabetta Di Fede

J Clin Immunol· May 2018

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Rothmund-Thomson Syndrome: Insights from New Patients on the Genetic Variability Underpinning Clinical Presentation and Cancer Outcome.
Elisa A Colombo, Andrea Locatelli, Laura Cubells Sánchez, Sara Romeo, Nursel H Elcioglu

Int J Mol Sci· April 2018

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Familial gastrointestinal stromal tumors, lentigines, and café-au-lait macules associated with germline c-kit mutation treated with imatinib.
Divya Gupta, Laxmisha Chandrashekar, Lidia Larizza, Elisa A Colombo, Laura Fontana

Int J Dermatol· February 2017

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Viable phenotype of ILNEB syndrome without nephrotic impairment in siblings heterozygous for unreported integrin alpha3 mutations.
Elisa Adele Colombo, Luigina Spaccini, Ludovica Volpi, Gloria Negri, Davide Cittaro

Orphanet J Rare Dis· October 2016

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A zebrafish model of Poikiloderma with Neutropenia recapitulates the human syndrome hallmarks and traces back neutropenia to the myeloid progenitor.
Elisa A Colombo, Silvia Carra, Laura Fontana, Erica Bresciani, Franco Cotelli

Sci Rep· November 2015

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