Publications by authors named "Flavia Cerrato"

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Hypomethylation of the MEG8:Int2-DMR in patients with pathogenic PLAG1 variants suggests new role of the chr14q32 imprinting cluster in Silver-Russell syndrome.
Emilia D'Angelo, Laura Pignata, Francesco Cecere, Alessandro Vimercati, Maria Vittoria Cubellis, Flavia Cerrato

Clin Epigenetics· November 2025

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Highly variable genomic methylation in the Beckwith-Wiedemann syndrome associated with multi-locus imprinting disturbances.
Francesco Cecere, Laura Pignata, Emilia D'Angelo, Carlo Giaccari, Abu Saadat, Flavia Cerrato

Clin Epigenetics· October 2025

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Identification of genetic and non-genetic modifiers of genomic imprinting through screening of imprinted DMR methylation in humans.
Francesco Cecere, Raissa Relator, Michael Levy, Ankit Verma, Haley McConkey, Flavia Cerrato

Epigenetics Chromatin· July 2025

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Multi-locus imprinting disturbance (MLID): interim joint statement for clinical and molecular diagnosis.
Deborah J G Mackay, Gabriella Gazdagh, David Monk, Frederic Brioude, Eloise Giabicani, Flavia Cerrato

Clin Epigenetics· August 2024

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A maternal-effect variant causes nuclear and cytoplasmic abnormalities in oocytes, as well as failure of epigenetic reprogramming and zygotic genome activation in embryos.
Carlo Giaccari, Francesco Cecere, Lucia Argenziano, Angela Pagano, Antonio Galvao, Flavia Cerrato

Genes Dev· March 2024

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Beckwith-Wiedemann syndrome and twinning: case report and brief review of literature.
Pierandrea Elefante, Beatrice Spedicati, Flavio Faletra, Laura Pignata, Flavia Cerrato

Ital J Pediatr· September 2023

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Co-occurrence of Beckwith-Wiedemann syndrome and pseudohypoparathyroidism type 1B: coincidence or common molecular mechanism?
Laura Pignata, Francesco Cecere, Fabio Acquaviva, Emilia D'Angelo, Daniela Cioffi, Flavia Cerrato

Front Cell Dev Biol· August 2023

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Co-Occurrence of Beckwith-Wiedemann Syndrome and Early-Onset Colorectal Cancer.
Francesco Cecere, Laura Pignata, Bruno Hay Mele, Abu Saadat, Emilia D'Angelo, Flavia Cerrato

Cancers (Basel)· March 2023

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Clinical and molecular characterization of patients affected by Beckwith-Wiedemann spectrum conceived through assisted reproduction techniques.
Diana Carli, Matteo Operti, Silvia Russo, Guido Cocchi, Donatella Milani, Flavia Cerrato

Clin Genet· October 2022

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Different Mechanisms Cause Hypomethylation of Both and Imprinted Differentially Methylated Regions in Two Cases of Silver-Russell Syndrome Spectrum.
Francesco Passaretti, Laura Pignata, Giuseppina Vitiello, Viola Alesi, Gemma D'Elia, Flavia Cerrato

Genes (Basel)· October 2022

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Novel genetic variants of KHDC3L and other members of the subcortical maternal complex associated with Beckwith-Wiedemann syndrome or Pseudohypoparathyroidism 1B and multi-locus imprinting disturbances.
Laura Pignata, Francesco Cecere, Ankit Verma, Bruno Hay Mele, Maria Monticelli, Flavia Cerrato

Clin Epigenetics· May 2022

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The number of the CTCF binding sites of the H19/IGF2:IG-DMR correlates with DNA methylation and expression imprinting in a humanized mouse model.
Andrea Freschi, Rosita Del Prete, Laura Pignata, Francesco Cecere, Francesco Manfrevola, Flavia Cerrato

Hum Mol Genet· July 2021

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Zfp57 inactivation illustrates the role of ICR methylation in imprinted gene expression during neural differentiation of mouse ESCs.
Basilia Acurzio, Ankit Verma, Alessia Polito, Carlo Giaccari, Francesco Cecere, Flavia Cerrato

Sci Rep· July 2021

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Variable Expressivity of the Beckwith-Wiedemann Syndrome in Four Pedigrees Segregating Loss-of-Function Variants of .
Angela Sparago, Flavia Cerrato, Laura Pignata, Francisco Cammarata-Scalisi, Livia Garavelli

Genes (Basel)· May 2021

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Mosaic Segmental and Whole-Chromosome Upd(11)mat in Silver-Russell Syndrome.
Laura Pignata, Angela Sparago, Orazio Palumbo, Elena Andreucci, Elisabetta Lapi, Flavia Cerrato

Genes (Basel)· April 2021

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Both Epimutations and Chromosome Aberrations Affect Multiple Imprinted Loci in Aggressive Wilms Tumors.
Laura Pignata, Orazio Palumbo, Flavia Cerrato, Basilia Acurzio, Enrique de Álava

Cancers (Basel)· November 2020

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Loss-of-function maternal-effect mutations of PADI6 are associated with familial and sporadic Beckwith-Wiedemann syndrome with multi-locus imprinting disturbance.
Maria Vittoria Cubellis, Laura Pignata, Ankit Verma, Angela Sparago, Rosita Del Prete, Flavia Cerrato

Clin Epigenetics· September 2020

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DNA Methylation in the Diagnosis of Monogenic Diseases.
Flavia Cerrato, Angela Sparago, Francesca Ariani, Fulvia Brugnoletti, Luciano Calzari

Genes (Basel)· March 2020

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The phenotypic variations of multi-locus imprinting disturbances associated with maternal-effect variants of NLRP5 range from overt imprinting disorder to apparently healthy phenotype.
Angela Sparago, Ankit Verma, Maria Grazia Patricelli, Laura Pignata, Silvia Russo, Flavia Cerrato

Clin Epigenetics· December 2019

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Transcription alterations of KCNQ1 associated with imprinted methylation defects in the Beckwith-Wiedemann locus.
Federica Maria Valente, Angela Sparago, Andrea Freschi, Katherine Hill-Harfe, Saskia M Maas, Flavia Cerrato

Genet Med· August 2019

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Origins of DNA methylation defects in Wilms tumors.
Zahra Anvar, Basilia Acurzio, Josep Roma, Flavia Cerrato, Gaetano Verde

Cancer Lett· August 2019

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Is ZFP57 binding to :IG-DMR affected in Silver-Russell syndrome?
Angela Sparago, Flavia Cerrato, Andrea Riccio

Clin Epigenetics· February 2019

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Tissue-specific and mosaic imprinting defects underlie opposite congenital growth disorders in mice.
Andrea Freschi, Stella K Hur, Federica Maria Valente, Folami Y Ideraabdullah, Angela Sparago, Flavia Cerrato

PLoS Genet· February 2018

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Assisted Reproductive Techniques and Risk of Beckwith-Wiedemann Syndrome.
Alessandro Mussa, Cristina Molinatto, Flavia Cerrato, Orazio Palumbo, Massimo Carella

Pediatrics· July 2017

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Humanized H19/Igf2 locus reveals diverged imprinting mechanism between mouse and human and reflects Silver-Russell syndrome phenotypes.
Stella K Hur, Andrea Freschi, Folami Ideraabdullah, Joanne L Thorvaldsen, Lacey J Luense, Flavia Cerrato

Proc Natl Acad Sci U S A· September 2016

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