Search filters

List of works by Silvia Sirchia

A multi-method approach to the molecular diagnosis of overt and borderline 11p15.5 defects underlying Silver-Russell and Beckwith-Wiedemann syndromes

scientific article published on March 2016

Beckwith-Wiedemann syndrome prenatal diagnosis by methylation analysis in chorionic villi

scientific article

Biparental expression of ESX1L gene in placentas from normal and intrauterine growth-restricted pregnancies

article

Blood fetal microchimerism in primary biliary cirrhosis

scientific article

Characterization of four microsatellites in an Italian population and their application to paternity testing

article

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

scientific article published on 21 October 2018

Chromosome 14 maternal uniparental disomy in the euploid cell line of a fetus with mosaic 46,XX/47,XX,+14 karyotype.

scientific article published on October 1994

Confined placental mosaicism

scientific article (publication date: December 1994)

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

scientific article published on 09 January 2019

Cytogenetic abnormalities and microsatellite instability in endometrial adenocarcinoma

scientific article published on 01 April 1997

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

scientific article

Detection of maternal DNA in cord blood at birth after elective caesarean section or vaginal delivery

scientific article published on 01 March 2000

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

scientific article published on 31 March 2010

ESX1 mRNA expression in seminal fluid is an indicator of residual spermatogenesis in non-obstructive azoospermic men

scientific article published on 14 October 2014

Emotion-induced myoclonic absence-like seizures in a patient with inv-dup(15) syndrome: a clinical, EEG, and molecular genetic study.

scientific article published on September 1999

Epigenetic alterations in cancer and personalized cancer treatment

scientific article

Epigenetic effects of chromatin remodeling agents on organotypic cultures

scientific article published on 7 March 2016

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

scientific article published on 28 May 2010

Erratum to: A multi-method approach to the molecular diagnosis of overt and borderline 11p15.5 defects underlying Silver-Russell and Beckwith-Wiedemann syndromes.

scientific article published on 21 April 2016

Erratum: OTX1 expression in breast cancer is regulated by p53

scientific article published in March 2014

Erratum: OTX1 expression in breast cancer is regulated by p53

scholarly article published in Oncogene

Extensive Placental Methylation Profiling in Normal Pregnancies

scientific article published on 21 February 2021

Fetal and placental chromosomal mosaicism revealed by QF-PCR in severe IUGR pregnancies.

scientific article published in January 2005

Genome-wide analysis of primary plasma cell leukemia identifies recurrent imbalances associated with changes in transcriptional profiles

article

Germline oncopharmacogenetics, a promising field in cancer therapy

scientific article published on 09 January 2015

Increased loss of the Y chromosome in peripheral blood cells in male patients with autoimmune thyroiditis

scientific article published on 22 December 2011

Juxtaposition of heterochromatic and euchromatic regions by chromosomal translocation mediates a heterochromatic long-range position effect associated with a severe neurological phenotype

scientific article published on 4 April 2012

Loss of heterozygosity of the NOS3 dinucleotide repeat marker in atherosclerotic plaques of human carotid arteries

scientific article published on 01 December 2001

Loss of heterozygosity on chromosome 4q32-35 in sporadic basal cell carcinomas: evidence for the involvement of p33ING2/ING1L and SAP30 genes

scientific article (publication date: April 2004)

Loss of the inactive X chromosome and replication of the active X in BRCA1-defective and wild-type breast cancer cells

scientific article

Losses of Heterozygosity in Endometrial Adenocarcinomas

scientific article published on 01 September 2000

Losses of heterozygosity in oral and oropharyngeal epithelial carcinomas

scientific article published in April 2000

MGMT-Methylated Alleles Are Distributed Heterogeneously Within Glioma Samples Irrespective of IDH Status and Chromosome 10q Deletion

scientific article

Microtubule-associated protein/microtubule affinity-regulating kinase 4 (MARK4) plays a role in cell cycle progression and cytoskeletal dynamics

scientific article published on 24 July 2014

Misbehaviour of XIST RNA in breast cancer cells

scientific article published on 15 May 2009

OTX1 expression in breast cancer is regulated by p53.

scientific article published on 11 April 2011

PDGFB hypomethylation is a favourable prognostic biomarker in primary myelofibrosis

scientific article published on 2 December 2014

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

scientific article published on 24 October 2007

Preferential X chromosome loss but random inactivation characterize primary biliary cirrhosis

scientific article published in August 2007

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

scientific article published on 26 January 2012

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

scientific article published on 05 August 2013

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

scientific article published on 25 August 2012

Significance of Clustered Tumor Suppressor Genes in Cancer ⬇️

scientific article published on September 1, 2012

TSC2 epigenetic defect in primary LAM cells. Evidence of an anchorage-independent survival

scientific article

The mammary gland and the homeobox gene Otx1.

scientific article published on September 2010

The methylation of the TSC2 promoter underlies the abnormal growth of TSC2 angiomyolipoma-derived smooth muscle cells

scientific article published on 14 May 2009

X chromosome inactivation pattern in BRCA gene mutation carriers

scientific article published on 9 November 2012

Paulina is supported by:

About Paulina

Help