List of works - Flavia Cerrato

A splicing mutation of the HMGA2 gene is associated with Silver-Russell syndrome phenotype

scientific article

Assisted Reproductive Techniques and Risk of Beckwith-Wiedemann Syndrome.

scientific article published on 20 June 2017

Both Epimutations and Chromosome Aberrations Affect Multiple Imprinted Loci in Aggressive Wilms Tumors

scientific article published on 18 November 2020

DNA Methylation in the Diagnosis of Monogenic Diseases

scientific article published on 26 March 2020

Different mechanisms cause imprinting defects at the IGF2/H19 locus in Beckwith-Wiedemann syndrome and Wilms' tumour

scientific article published on 01 February 2008

Distinct methylation changes at the IGF2-H19 locus in congenital growth disorders and cancer.

scientific article

Hypomethylation at multiple maternally methylated imprinted regions including PLAGL1 and GNAS loci in Beckwith-Wiedemann syndrome.

scientific article

Loss-of-function maternal-effect mutations of PADI6 are associated with familial and sporadic Beckwith-Wiedemann syndrome with multi-locus imprinting disturbance

scientific article published on 14 September 2020

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

scientific article published on 28 May 2022

Origins of DNA methylation defects in Wilms tumors

scientific article published on 16 May 2019

Paternal deletion of the 11p15.5 centromeric-imprinting control region is associated with alteration of imprinted gene expression and recurrent severe intrauterine growth restriction ⬇️

scientific article published on December 14, 2012

The KCNQ1OT1 imprinting control region and non-coding RNA: new properties derived from the study of Beckwith-Wiedemann syndrome and Silver-Russell syndrome cases

scientific article published on 14 September 2011

The phenotypic variations of multi-locus imprinting disturbances associated with maternal-effect variants of NLRP5 range from overt imprinting disorder to apparently healthy phenotype

scientific article published on 11 December 2019

Tissue-specific and mosaic imprinting defects underlie opposite congenital growth disorders in mice

scientific article published on 22 February 2018

Transcription alterations of KCNQ1 associated with imprinted methylation defects in the Beckwith-Wiedemann locus

scientific article published on 12 January 2019

Two maternal duplications involving the CDKN1C gene are associated with contrasting growth phenotypes.

scientific article published on 16 June 2016

List of works by Flavia Cerrato

A splicing mutation of the HMGA2 gene is associated with Silver-Russell syndrome phenotype

Assisted Reproductive Techniques and Risk of Beckwith-Wiedemann Syndrome.

Both Epimutations and Chromosome Aberrations Affect Multiple Imprinted Loci in Aggressive Wilms Tumors

DNA Methylation in the Diagnosis of Monogenic Diseases

Different mechanisms cause imprinting defects at the IGF2/H19 locus in Beckwith-Wiedemann syndrome and Wilms' tumour

Distinct methylation changes at the IGF2-H19 locus in congenital growth disorders and cancer.

Hypomethylation at multiple maternally methylated imprinted regions including PLAGL1 and GNAS loci in Beckwith-Wiedemann syndrome.

Loss-of-function maternal-effect mutations of PADI6 are associated with familial and sporadic Beckwith-Wiedemann syndrome with multi-locus imprinting disturbance

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

Origins of DNA methylation defects in Wilms tumors

Paternal deletion of the 11p15.5 centromeric-imprinting control region is associated with alteration of imprinted gene expression and recurrent severe intrauterine growth restriction ⬇️

The KCNQ1OT1 imprinting control region and non-coding RNA: new properties derived from the study of Beckwith-Wiedemann syndrome and Silver-Russell syndrome cases

The phenotypic variations of multi-locus imprinting disturbances associated with maternal-effect variants of NLRP5 range from overt imprinting disorder to apparently healthy phenotype

Tissue-specific and mosaic imprinting defects underlie opposite congenital growth disorders in mice

Transcription alterations of KCNQ1 associated with imprinted methylation defects in the Beckwith-Wiedemann locus

Two maternal duplications involving the CDKN1C gene are associated with contrasting growth phenotypes.