Lista de obras - Silvia Tabano - Dominio Público Uruguay

A HS6ST2 gene variant associated with X-linked intellectual disability and severe myopia in two male twins

scientific article published on 26 December 2018

Analysis of BRCA1 and RAD51C Promoter Methylation in Italian Families at High-Risk of Breast and Ovarian Cancer

scientific article published on 08 April 2020

Beckwith-Wiedemann and IMAGe syndromes: two very different diseases caused by mutations on the same gene

artículo científico publicado en 2014

Characterization of multi-locus imprinting disturbances and underlying genetic defects in patients with chromosome 11p15.5 related imprinting disorders

artículo científico publicado en 2018

Constitutional ring chromosome 11 mosaicism in a Wilms tumor patient: Cytogenetic, molecular and clinico-pathological studies

artículo científico publicado en 2010

Constitutive Promoter Hypermethylation Can Be a Predisposing Event in Isolated Early-Onset Breast Cancer

artículo científico publicado en 2019

DNA Methylation in the Diagnosis of Monogenic Diseases

artículo científico publicado en 2020

DNA methylation and histone modifications modulate the β1,3 galactosyltransferase β3Gal-T5 native promoter in cancer cells

artículo científico publicado en 2011

Delineating the cytogenomic and epigenomic landscapes of glioma stem cell lines

artículo científico publicado en 2013

Detection of Loss of Imprinting by Pyrosequencing®

artículo científico publicado en 2015

Differential signature of the centrosomal MARK4 isoforms in glioma.

artículo científico publicado en 2011

ESX1 gene expression as a robust marker of residual spermatogenesis in azoospermic men.

artículo científico publicado en 2010

Epigenetic effects of chromatin remodeling agents on organotypic cultures

artículo científico publicado en 2016

Epigenetic modulation of the IGF2/H19 imprinted domain in human embryonic and extra-embryonic compartments and its possible role in fetal growth restriction

artículo científico publicado en 2010

Extensive Placental Methylation Profiling in Normal Pregnancies

artículo científico publicado en 2021

Gene Expression Profile Analysis of Human Mesenchymal Stem Cells from Herniated and Degenerated Intervertebral Discs Reveals Different Expression of Osteopontin

article

Genetic polymorphisms and sepsis in premature neonates

artículo científico publicado en 2014

Intrauterine growth restriction is associated with alterations in placental lipoprotein receptors and maternal lipoprotein composition

article

Misbehaviour of XIST RNA in breast cancer cells

artículo científico publicado en 2009

Molecular profiling of lung cancer specimens and liquid biopsies using MALDI-TOF mass spectrometry.

artículo científico publicado en 2018

New case of trichorinophalangeal syndrome-like phenotype with a de novo t(2;8)(p16.1;q23.3) translocation which does not disrupt the TRPS1 gene

artículo científico publicado en 2014

PDGFB hypomethylation is a favourable prognostic biomarker in primary myelofibrosis

artículo científico publicado en 2014

Placental IGF2 Expression in Normal and Intrauterine Growth Restricted (IUGR) Pregnancies

artículo científico publicado en 2007

Placental LPL Gene Expression Is Increased in Severe Intrauterine Growth-Restricted Pregnancies

article

Preferential expression of mutant ABCD1 allele is common in adrenoleukodystrophy female carriers but unrelated to clinical symptoms

artículo científico publicado en 2012

Quantitative DNA methylation analysis improves epigenotype-phenotype correlations in Beckwith-Wiedemann syndrome

artículo científico publicado en 2013

Role of epigenetics in human aging and longevity: genome-wide DNA methylation profile in centenarians and centenarians' offspring.

artículo científico publicado en 2012

SHOX duplications found in some cases with type I Mayer-Rokitansky-Kuster-Hauser syndrome

artículo científico publicado en 2010

SNAT2 expression and regulation in human growth-restricted placentas

artículo científico publicado en 2013

Sequence variants identification at the KCNQ1OT1:TSS differentially Methylated region in isolated omphalocele cases

artículo científico publicado en 2017

TP53, p14ARF, p16INK4a and H-ras gene molecular analysis in intestinal-type adenocarcinoma of the nasal cavity and paranasal sinuses

article

Transferrin receptor gene and protein expression and localization in human IUGR and normal term placentas

article

X chromosome inactivation pattern in BRCA gene mutation carriers

artículo científico publicado en 2012

X monosomy in female systemic lupus erythematosus.

artículo científico publicado en 2007

Lista de obras de Silvia Tabano

A HS6ST2 gene variant associated with X-linked intellectual disability and severe myopia in two male twins

Analysis of BRCA1 and RAD51C Promoter Methylation in Italian Families at High-Risk of Breast and Ovarian Cancer

Beckwith-Wiedemann and IMAGe syndromes: two very different diseases caused by mutations on the same gene

Characterization of multi-locus imprinting disturbances and underlying genetic defects in patients with chromosome 11p15.5 related imprinting disorders

Constitutional ring chromosome 11 mosaicism in a Wilms tumor patient: Cytogenetic, molecular and clinico-pathological studies

Constitutive Promoter Hypermethylation Can Be a Predisposing Event in Isolated Early-Onset Breast Cancer

DNA Methylation in the Diagnosis of Monogenic Diseases

DNA methylation and histone modifications modulate the β1,3 galactosyltransferase β3Gal-T5 native promoter in cancer cells

Delineating the cytogenomic and epigenomic landscapes of glioma stem cell lines

Detection of Loss of Imprinting by Pyrosequencing®

Differential signature of the centrosomal MARK4 isoforms in glioma.

ESX1 gene expression as a robust marker of residual spermatogenesis in azoospermic men.

Epigenetic effects of chromatin remodeling agents on organotypic cultures

Epigenetic modulation of the IGF2/H19 imprinted domain in human embryonic and extra-embryonic compartments and its possible role in fetal growth restriction

Extensive Placental Methylation Profiling in Normal Pregnancies

Gene Expression Profile Analysis of Human Mesenchymal Stem Cells from Herniated and Degenerated Intervertebral Discs Reveals Different Expression of Osteopontin

Genetic polymorphisms and sepsis in premature neonates

Intrauterine growth restriction is associated with alterations in placental lipoprotein receptors and maternal lipoprotein composition

Misbehaviour of XIST RNA in breast cancer cells

Molecular profiling of lung cancer specimens and liquid biopsies using MALDI-TOF mass spectrometry.

New case of trichorinophalangeal syndrome-like phenotype with a de novo t(2;8)(p16.1;q23.3) translocation which does not disrupt the TRPS1 gene

PDGFB hypomethylation is a favourable prognostic biomarker in primary myelofibrosis

Placental IGF2 Expression in Normal and Intrauterine Growth Restricted (IUGR) Pregnancies

Placental LPL Gene Expression Is Increased in Severe Intrauterine Growth-Restricted Pregnancies

Preferential expression of mutant ABCD1 allele is common in adrenoleukodystrophy female carriers but unrelated to clinical symptoms

Quantitative DNA methylation analysis improves epigenotype-phenotype correlations in Beckwith-Wiedemann syndrome

Role of epigenetics in human aging and longevity: genome-wide DNA methylation profile in centenarians and centenarians' offspring.

SHOX duplications found in some cases with type I Mayer-Rokitansky-Kuster-Hauser syndrome

SNAT2 expression and regulation in human growth-restricted placentas

Sequence variants identification at the KCNQ1OT1:TSS differentially Methylated region in isolated omphalocele cases

TP53, p14ARF, p16INK4a and H-ras gene molecular analysis in intestinal-type adenocarcinoma of the nasal cavity and paranasal sinuses

Transferrin receptor gene and protein expression and localization in human IUGR and normal term placentas

X chromosome inactivation pattern in BRCA gene mutation carriers

X monosomy in female systemic lupus erythematosus.