Lista de obras - Angela Sparago - Dominio Público Uruguay

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

artículo científico publicado en 2015

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

artículo científico publicado en 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 ⬇️

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

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.

artículo científico publicado en 2013

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

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

artículo científico publicado en 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

artículo científico publicado en 2006

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

artículo científico publicado en 2004

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

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

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 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