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List of works by Francesca Amati

22q11 deletions in isolated and syndromic patients with tetralogy of Fallot

scientific article published on 01 May 1995

A multiple retinoic acid antagonist induces conotruncal anomalies, including transposition of the great arteries, in mice

scientific article published on 01 July 2006

Analysis of intracellular distribution and apoptosis involvement of the Ufd1l gene product by over-expression studies

scientific article

Analysis of the elastin gene in 60 patients with clinical diagnosis of Williams syndrome

scientific article published in October 1995

Application of Next Generation Sequencing for personalized medicine for sudden cardiac death

scientific article

Association between OLR1 K167N SNP and intima media thickness of the common carotid artery in the general population

scientific article

Association study between CAG trinucleotide repeats in the PCQAP gene (PC2 glutamine/Q-rich-associated protein) and schizophrenia

scientific article (publication date: 2003)

Biased T-cell receptor repertoires in patients with chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome).

scientific article published in May 2003

Causes of the phenotype–genotype dissociation in DiGeorge syndrome: clues from mouse models

scientific article published on 01 October 2001

Downregulation of Circulating Hsa-miR-200c-3p Correlates with Dyslipidemia in Patients with Stable Coronary Artery Disease

scientific article published in 2023

Dynamic changes in gene expression profiles of 22q11 and related orthologous genes during mouse development

scientific article published on 19 January 2007

Epidermal growth factor-like domain 7 promotes migration and invasion of human trophoblast cells through activation of MAPK, PI3K and NOTCH signaling pathways

scientific article published on 9 February 2015

Epigenetic Modification in Coronary Atherosclerosis: JACC Review Topic of the Week

scientific article published on 01 September 2019

Expression analysis of the gene encoding for the U-box-type ubiquitin ligase UBE4A in human tissues

scientific article (publication date: 17 March 2004)

Frataxin deficiency in Friedreich's ataxia is associated with reduced levels of HAX-1, a regulator of cardiomyocyte death and survival

scientific article published on 01 February 2020

Functional characterization and expression analysis of novel alternative splicing isoforms of Olr1 gene during mouse embryogenesis

scientific article published on 2 October 2011

Functional characterization of the 5' flanking region of human ubiquitin fusion degradation 1 like gene (UFD1L).

scientific article

Gene expression analysis in myotonic dystrophy: indications for a common molecular pathogenic pathway in DM1 and DM2.

scientific article published on January 2007

Hif1α down-regulation is associated with transposition of great arteries in mice treated with a retinoic acid antagonist

scientific article

In vivo and in vitro studies support that a new splicing isoform of OLR1 gene is protective against acute myocardial infarction

scientific article published on 23 June 2005

Individual haploinsufficient loci and the complex phenotype of DiGeorge syndrome

scientific article published on 01 January 2000

Isolation and characterization of a novel gene from the DiGeorge chromosomal region that encodes for a mediator subunit

scientific article (publication date: 15 June 2001)

Isolation and characterization of a novel transcript embedded within HIRA, a gene deleted in DiGeorge syndrome

scientific article published in July 1999

LOX-1 Inhibition in ApoE KO Mice Using a Schizophyllan-based Antisense Oligonucleotide Therapy

scientific article published on 4 December 2012

LOX-1 and Its Splice Variants: A New Challenge for Atherosclerosis and Cancer-Targeted Therapies

scientific article published on 29 January 2017

MiR-423 is differentially expressed in patients with stable and unstable coronary artery disease: A pilot study

scientific article published on 06 May 2019

MicroRNA 217 modulates endothelial cell senescence via silent information regulator 1.

scientific article published on 28 September 2009

Mutational analysis of Peroxiredoxin IV: exclusion of a positional candidate for multinodular goitre

scientific article

Mutational analysis of mitochondrial DNA in Brugada syndrome

scientific article

Mutations of UFD1L are not responsible for the majority of cases of DiGeorge Syndrome/velocardiofacial syndrome without deletions within chromosome 22q11.

scientific article published in July 1999

Mutations of ZFPM2/FOG2 gene in sporadic cases of tetralogy of Fallot

scientific article

Mutations ofZFPM2/FOG2 gene in sporadic cases of tetralogy of Fallot

article

OLR1 and Loxin Expression in PBMCs of Women with a History of Unexplained Recurrent Miscarriage: A Pilot Study

scientific article published on 14 April 2017

Population differences in allele frequencies at theOLR1locus may suggest geographic disparities in cardiovascular risk events

Pro-oncogenic action of LOX-1 and its splice variant LOX-1Δ4 in breast cancer phenotypes

scientific article published on 18 January 2019

Structure and expression of the human ubiquitin fusion-degradation gene (UFD1L).

scientific article

The human rs1050286 polymorphism alters LOX-1 expression through modifying miR-24 binding.

scientific article published on 6 November 2015

Two pedigrees of autosomal dominant atrioventricular canal defect (AVCD): Exclusion from the critical region on 8p

UFD1L and CDC45L: a role in DiGeorge syndrome and related phenotypes?

scientific article published on 01 July 1999

UFD1L, a developmentally expressed ubiquitination gene, is deleted in CATCH 22 syndrome

scientific article

Valproic acid induces neuroendocrine differentiation and UGT2B7 up-regulation in human prostate carcinoma cell line

scientific article published on 19 March 2007

cDNA characterization and chromosomal mapping of two human homologues of the Drosophila dishevelled polarity gene

scientific article

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