Elisa Bregant

University of Udine — Italy

Biochemistry, Genetics and Molecular Biology · Life Sciences

9h-index182citations18works4.02yr avg
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Research Topics

Genomics and Rare Diseases(5), Genetic Neurodegenerative Diseases(3), Genomic variations and chromosomal abnormalities(3), RNA modifications and cancer(3), Epigenetics and DNA Methylation(2)

Publications18 total

A Prenatal Diagnosis of Verheij Syndrome in a Fetus Harboring a de novo <i>PUF60</i> Variant
Clinical Case Reports·2025· 1 citedOpen Access
The molecular landscape of hereditary ataxia: a single-center study
Human Genetics·2025· 2 citedOpen Access
The impact of the European Society of Cardiology guidelines and whole exome sequencing on genetic testing in hereditary cardiac diseases
Clinical Genetics·2024· 4 citedOpen Access
A bird’s eye view on the use of whole exome sequencing in rare congenital ophthalmic diseases
Journal of Human Genetics·2024· 9 citedOpen Access
A paternally inherited 1.4 kb deletion of the 11p15.5 imprinting center 2 is associated with a mild familial Silver–Russell syndrome phenotype
European Journal of Human Genetics·2020· 5 citedOpen Access
CACNA1C haploinsufficiency accounts for the common features of interstitial 12p13.33 deletion carriers
European Journal of Medical Genetics·2020· 16 cited
Mesomelia‐synostoses syndrome: Description of a patient presenting a monoallelic expression of <i>SULF1</i> without alterations in the <i>SLCOA1</i> gene
Clinical Genetics·2018· 2 cited
Evaluating the SERCA2 and VEGF mRNAs as Potential Molecular Biomarkers of the Onset and Progression in Huntington’s Disease
PLoS ONE·2015· 19 citedOpen Access
Somatic amplifications and deletions in genome of papillary thyroid carcinomas
Endocrine·2015· 21 citedOpen Access
A new germline <i><scp>VHL</scp></i> gene mutation in three patients with apparently sporadic pheochromocytoma
Clinical Endocrinology·2012· 5 cited
Cyclic AMP–Response Element Modulator Inhibits the Promoter Activity of the Sodium Iodide Symporter Gene in Thyroid Cancer Cells
Thyroid·2012· 12 cited
CREM inhibits promoter activity of NIS gene in thyroid cancer cells
Thyroid·2012· 1 cited
Quick MLPA test for quantification of SMN1 and SMN2 copy numbers
Molecular and Cellular Probes·2010· 17 cited
The hOGG1 Ser326Cys polymorphism and Huntington's disease
Toxicology·2009· 32 cited
Conservation across species identifies several transcriptional enhancers in the HEX genomic region
Molecular and Cellular Biochemistry·2009
Down-regulation of SM22/transgelin gene expression during H9c2 cells differentiation
Molecular and Cellular Biochemistry·2009· 10 cited
A Simple Multiplex Real-Time PCR Methodology for the <i>SMN1</i> Gene Copy Number Quantification
Genetic Testing and Molecular Biomarkers·2009· 17 cited
Molecular analysis of a human PAX6 homeobox mutant
European Journal of Human Genetics·2006· 9 citedOpen Access

Frequent Co-authors

Giuseppe Damante(17), Nadia Passon(11), Catia Mio(6), Alessandra Franzoni(6), Federica Baldan(5), Angela D’Elia(5), Renata Lonigro(4), Cosimo Durante(4), Diego Russo(4), Sébastiano Filetti(4), Cinzia Puppin(4), Jessica Zucco(4), Flavio Faletra(4), Incoronata Renata Lonigro(3), Eliana Demori(3), Lorenzo Allegri(3), Roberto Ceravolo(2), Lucia Petrozzi(2), Gabriele Siciliano(2), Giorgia Dubsky de Wittenau(2)