List of works - Angela Sparago

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

scientific article

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

scientific article published on 16 September 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

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

Familial posterior helical ear pits

scientific article published on 01 December 2007

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

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

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

scientific article published on 21 February 2018

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

Microdeletions in the human H19 DMR result in loss of IGF2 imprinting and Beckwith-Wiedemann syndrome

scientific article

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

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

scientific article published on 01 July 2010

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 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

Two cases of misinterpretation of molecular results in incontinentia pigmenti, and a PCR-based method to discriminate NEMO/IKKgamma dene deletion.

scientific article published in January 2003

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

scientific article published on 16 June 2016

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

List of works by Angela Sparago

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

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

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

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.

Familial posterior helical ear pits

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

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.

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

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

Microdeletions in the human H19 DMR result in loss of IGF2 imprinting and 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 ⬇️

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

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 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

Two cases of misinterpretation of molecular results in incontinentia pigmenti, and a PCR-based method to discriminate NEMO/IKKgamma dene deletion.

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

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