Lista de obras - Andrea Riccio - Dominio Público Uruguay

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

artículo científico publicado en 2015

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

artículo científico

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.

artículo científico publicado en 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.

artículo científico publicado en 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

artículo científico publicado en 2015

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

artículo científico publicado en 2015

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

artículo científico publicado en 2011

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

artículo científico publicado en 2015

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

artículo científico publicado en 1996

Assisted Reproductive Techniques and Risk of Beckwith-Wiedemann Syndrome.

artículo científico publicado en 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

artículo científico publicado en 2020

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

artículo científico publicado en 2016

Causes and Consequences of Multi-Locus Imprinting Disturbances in Humans

artículo científico publicado en 2016

Clinical utility gene card for: Beckwith-Wiedemann Syndrome.

artículo científico publicado en 2013

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

artículo científico publicado en 2015

DNA Methylation in the Diagnosis of Monogenic Diseases

artículo científico publicado en 2020

Developmentally regulated functions of the H19 differentially methylated domain.

artículo científico publicado en 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 ⬇️

artículo científico publicado el 31 de enero de 2011

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

artículo científico publicado en 2008

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.

artículo científico publicado en 2016

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

artículo científico publicado en 2018

Familial posterior helical ear pits

scientific article published on 01 December 2007

Fetal growth patterns in Beckwith-Wiedemann syndrome.

artículo científico publicado en 2016

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

artículo científico publicado el 20 de agosto de 1990

Gain of function in CDKN1C

artículo científico publicado en 2012

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

artículo científico publicado en 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

artículo científico publicado en 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

artículo científico publicado en 2008

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

artículo científico publicado en 2016

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

artículo científico publicado en 2008

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

artículo científico publicado en 2013

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

artículo científico publicado en 2015

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

artículo científico publicado en 2011

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

artículo científico publicado en 2015

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

artículo científico publicado en 2018

Looking for CDKN1C enhancers.

artículo científico publicado en 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

artículo científico publicado en 2006

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

artículo científico publicado en 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

artículo científico publicado en 1994

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

artículo científico publicado en 1994

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

artículo científico

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

artículo científico publicado el 14 de diciembre de 2012

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

artículo científico publicado en 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.

artículo científico publicado en 1987

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

artículo científico publicado en 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.

artículo científico publicado en 1996

Prevalence of beckwith-wiedemann syndrome in North West of Italy

article

Recent Advances in Imprinting Disorders.

artículo científico publicado en 2016

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

artículo científico publicado en 2015

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

artículo científico publicado en 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.

artículo científico publicado en 2013

Silver-Russell syndrome following in vitro fertilization

artículo científico publicado en 2008

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

artículo científico publicado en 2002

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

artículo científico publicado en 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

artículo científico publicado en 2011

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

artículo científico publicado en 2014

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

artículo científico publicado en 2013

The human urokinase-plasminogen activator gene and its promoter.

artículo científico publicado en 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

artículo científico publicado en 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.

artículo científico publicado en 1989

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

artículo científico publicado en 2016

Wilms tumor and constitutional epigenetic defects

artículo científico publicado en 2008

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

artículo científico publicado en 2016

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

artículo científico publicado en 2015

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

artículo científico publicado en 2021

Lista de obras de Andrea Riccio

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

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

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

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

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.

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

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

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

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

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

Assisted Reproductive Techniques and Risk of Beckwith-Wiedemann Syndrome.

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

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

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

Causes and Consequences of Multi-Locus Imprinting Disturbances in Humans

Clinical utility gene card for: Beckwith-Wiedemann Syndrome.

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

DNA Methylation in the Diagnosis of Monogenic Diseases

Developmentally regulated functions of the H19 differentially methylated domain.

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

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

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

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

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

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

Familial posterior helical ear pits

Fetal growth patterns in Beckwith-Wiedemann syndrome.

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

Gain of function in CDKN1C

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

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

Giant breast tumors in a patient with Beckwith-Wiedemann syndrome

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

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

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

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

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

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

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

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

Looking for CDKN1C enhancers.

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

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

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

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

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

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

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

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

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

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

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

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.

Prevalence of beckwith-wiedemann syndrome in North West of Italy

Recent Advances in Imprinting Disorders.

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

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

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

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

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

Silver-Russell syndrome following in vitro fertilization

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

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

The H19 locus acts in vivo as a tumor suppressor

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

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

The human urokinase-plasminogen activator gene and its promoter.

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

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

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

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

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

Wilms tumor and constitutional epigenetic defects

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

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

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