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List of works by Andrea Riccio

(Epi)genotype-phenotype correlations in Beckwith-Wiedemann syndrome

scientific article

(Epi)genotype-phenotype correlations in Beckwith-Wiedemann syndrome: a paradigm for genomic medicine.

scientific article published on 03 July 2015

A KHDC3L mutation resulting in recurrent hydatidiform mole causes genome-wide DNA methylation loss in oocytes and persistent imprinting defects post-fertilisation

scientific article published on 17 December 2019

A case of Beckwith-Wiedemann syndrome caused by a cryptic 11p15 deletion encompassing the centromeric imprinted domain of the BWS locus.

scientific article published on 20 October 2009

A common response element mediates differential effects of phorbol esters and forskolin on type-1 plasminogen activator inhibitor gene expression in human breast carcinoma cells.

scientific article published on February 1994

A new case of de novo 6q24.2-q25.2 deletion on paternal chromosome 6 with growth hormone deficiency: a twelve-year follow-up and literature review

scientific article (publication date: 2015)

A novel large deletion of the ICR1 region including H19 and putative enhancer elements

scientific article published on 6 May 2015

A novel microdeletion in the IGF2/H19 imprinting centre region defines a recurrent mutation mechanism in familial Beckwith-Wiedemann syndrome.

scientific article

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

scientific article

Activation of fetal promoters of insulinlike growth factors II gene in hepatitis C virus-related chronic hepatitis, cirrhosis, and hepatocellular carcinoma.

scientific article published in June 1996

Assisted Reproductive Techniques and Risk of Beckwith-Wiedemann Syndrome.

scientific article published on 20 June 2017

Biallelic variant in cyclin B3 is associated with failure of maternal meiosis II and recurrent digynic triploidy

scientific article published on 16 September 2020

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

scientific article published on 18 November 2020

Cancer Risk in Beckwith-Wiedemann Syndrome: A Systematic Review and Meta-Analysis Outlining a Novel (Epi)Genotype Specific Histotype Targeted Screening Protocol

scientific article

Causes and Consequences of Multi-Locus Imprinting Disturbances in Humans

scientific article published on 24 May 2016

Clinical utility gene card for: Beckwith-Wiedemann Syndrome.

scientific article published on 03 July 2013

Congenital imprinting disorders: EUCID.net - a network to decipher their aetiology and to improve the diagnostic and clinical care

scientific article

DNA Methylation in the Diagnosis of Monogenic Diseases

scientific article published on 26 March 2020

Developmentally regulated functions of the H19 differentially methylated domain.

scientific article published on 17 December 2003

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

scientific article published on 01 February 2008

Disruption of genomic neighbourhood at the imprinted IGF2-H19 locus in Beckwith–Wiedemann syndrome and Silver–Russell syndrome ⬇️

scientific article published on January 31, 2011

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

scientific article

EMQN best practice guidelines for the molecular genetic testing and reporting of chromosome 11p15 imprinting disorders: Silver-Russell and Beckwith-Wiedemann syndrome.

scientific article published on 11 May 2016

Erratum to: Imprinting disorders: a group of congenital disorders with overlapping patterns of molecular changes affecting imprinted loci.

scientific article published on 7 March 2016

Expert consensus document: Clinical and molecular diagnosis, screening and management of Beckwith-Wiedemann syndrome: an international consensus statement

scientific article

Familial posterior helical ear pits

scientific article published on 01 December 2007

Fetal growth patterns in Beckwith-Wiedemann syndrome.

scientific article published on 9 February 2016

Forskolin down-regulates type-1 plasminogen activator inhibitor and tissue-type plasminogen activator and their mRNAs in human fibrosarcoma cells ⬇️

scientific article published on August 20, 1990

Gain of function in CDKN1C

scientific article

Genetic and epigenetic mutations affect the DNA binding capability of human ZFP57 in transient neonatal diabetes type 1.

scientific article published on 13 March 2013

Genomic imprinting disorders: lessons on how genome, epigenome and environment interact

scientific article published on 01 April 2019

Giant breast tumors in a patient with Beckwith-Wiedemann syndrome

scientific article published on 08 November 2013

High frequency of loss of heterozygosity at 11p15 and IGF2 overexpression are not related to clinical outcome in childhood adrenocortical tumors positive for the R337H TP53 mutation

scientific article published on October 2008

Humanized H19/Igf2 locus reveals diverged imprinting mechanism between mouse and human and reflects Silver-Russell syndrome phenotypes

scientific article published on 12 September 2016

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

scientific article

Imprinting at the PLAGL1 domain is contained within a 70-kb CTCF/cohesin-mediated non-allelic chromatin loop.

scientific article published on 7 January 2013

Imprinting disorders: a group of congenital disorders with overlapping patterns of molecular changes affecting imprinted loci

scientific article

In embryonic stem cells, ZFP57/KAP1 recognize a methylated hexanucleotide to affect chromatin and DNA methylation of imprinting control regions

scientific article published on November 2011

Insulin Like Growth Factor 2 Expression in the Rat Brain Both in Basal Condition and following Learning Predominantly Derives from the Maternal Allele

scientific article published on 23 October 2015

Is ZFP57 binding to H19/IGF2:IG-DMR affected in Silver-Russell syndrome?

scientific article published on 21 February 2018

Looking for CDKN1C enhancers.

scientific article published on 16 October 2013

MS-MLPA is a specific and sensitive technique for detecting all chromosome 11p15.5 imprinting defects of BWS and SRS in a single-tube experiment

scientific article published on 23 January 2008

Mechanisms causing imprinting defects in familial Beckwith–Wiedemann syndrome with Wilms' tumour

scientific article published on 11 December 2006

Meg3 Non-coding RNA Expression Controls Imprinting by Preventing Transcriptional Upregulation in cis

scientific article published on 01 April 2018

Molecular subtypes and phenotypic expression of Beckwith–Wiedemann syndrome

Mono- and bi-allelic expression of insulin-like growth factor II gene in human muscle tumors

scientific article published on 01 July 1994

Multiple levels of control of insulin-like growth factor gene expression.

scientific article published on May 1994

Nephrological findings and genotype-phenotype correlation in Beckwith-Wiedemann syndrome.

scientific article published on 21 October 2011

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

Paternal imprints can be established on the maternal Igf2-H19 locus without altering replication timing of DNA.

scientific article published on 7 October 2003

Perlman syndrome: Clinical report and nine-year follow-up

scientific article published on 01 December 2005

Plasminogen activator inhibitor type 1 biosynthesis and mRNA level are increased by dexamethasone in human fibrosarcoma cells.

scientific article published on August 1987

Plasminogen activator inhibitor type-1: reactive center and amino-terminal heterogeneity determined by protein and cDNA sequencing.

scientific article published in December 1986

Preferential loss of heterozygosity of chromosome 7 loci in simian virus 40 t/T antigen-induced mouse hepatocellular carcinomas does not involve H-ras mutations.

scientific article published in January 1996

Prevalence of beckwith-wiedemann syndrome in North West of Italy

article

Recent Advances in Imprinting Disorders.

scientific article published on July 2016

Recommendations of the Scientific Committee of the Italian Beckwith-Wiedemann Syndrome Association on the diagnosis, management and follow-up of the syndrome

scientific article

Relaxation of insulin-like growth factor-2 imprinting in rat cultured cells

scientific article published on 01 December 1997

Role of histone acetylation and DNA methylation in the maintenance of the imprinted expression of the H19 and Igf2 genes

scientific article published on 01 September 1999

Silver-Russell Syndrome and Beckwith-Wiedemann Syndrome Phenotypes Associated with 11p Duplication in a Single Family

scientific article published on 01 July 2010

Silver-Russell syndrome due to paternal H19/IGF2 hypomethylation in a twin girl born after in vitro fertilization.

scientific article published on 16 August 2013

Silver-Russell syndrome following in vitro fertilization

scientific article published on 01 July 2008

The 5' end of the KCNQ1OT1 gene is hypomethylated in the Beckwith-Wiedemann syndrome.

scientific article

The H19 endodermal enhancer is required for Igf2 activation and tumor formation in experimental liver carcinogenesis

scientific article published on 01 December 2000

The H19 locus acts in vivo as a tumor suppressor

scientific journal article

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 PEG13-DMR and brain-specific enhancers dictate imprinted expression within the 8q24 intellectual disability risk locus

scientific article published on 25 March 2014

The control region of mitochondrial DNA shows an unusual CpG and non-CpG methylation pattern

scientific article published on 26 June 2013

The human urokinase-plasminogen activator gene and its promoter.

scientific article published on April 1985

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

The two-domain hypothesis in Beckwith–Wiedemann syndrome: autonomous imprinting of the telomeric domain of the distal chromosome 7 cluster

article published in 2005

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

Tumor necrosis factor-alpha regulates mRNA for urokinase-type plasminogen activator and type-1 plasminogen activator inhibitor in human neoplastic cell lines.

scientific article published in January 1989

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

scientific article published on 16 June 2016

Wilms tumor and constitutional epigenetic defects

scientific article published on 01 November 2008

ZFP57 maintains the parent-of-origin-specific expression of the imprinted genes and differentially affects non-imprinted targets in mouse embryonic stem cells

scientific article published on June 2016

ZFP57 recognizes multiple and closely spaced sequence motif variants to maintain repressive epigenetic marks in mouse embryonic stem cells

scientific article published on 19 October 2015

Zfp57 inactivation illustrates the role of ICR methylation in imprinted gene expression during neural differentiation of mouse ESCs

scientific article published on 05 July 2021

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