Elisa Bregant

发表

A simple multiplex real-time PCR methodology for the SMN1 gene copy number quantification.

Giuseppe Damante, C. Gellera, Nadia Passon, 2009, Genetic testing and molecular biomarkers.

Conservation across species identifies several transcriptional enhancers in the HEX genomic region

Nadia Passon, Elisa Bregant, G. Damante, 2009, Molecular and Cellular Biochemistry.

Cyclic AMP-response element modulator inhibits the promoter activity of the sodium iodide symporter gene in thyroid cancer cells.

S. Filetti, D. Russo, Nadia Passon, 2012, Thyroid : official journal of the American Thyroid Association.

The hOGG1 Ser326Cys polymorphism and Huntington's disease.

F. Coppedè, L. Migliore, G. Siciliano, 2010, Toxicology.

Somatic amplifications and deletions in genome of papillary thyroid carcinomas

S. Filetti, D. Russo, Nadia Passon, 2015, Endocrine.

Molecular analysis of a human PAX6 homeobox mutant

G. Tell, F. Fogolari, Elisa Bregant, 2006, European Journal of Human Genetics.

A paternally inherited 1.4 kb deletion of the 11p15.5 imprinting center 2 is associated with a mild familial Silver–Russell syndrome phenotype

Nadia Passon, Elisa Bregant, G. Damante, 2020, European Journal of Human Genetics.

CACNA1C haploinsufficiency accounts for the common features of interstitial 12p13.33 deletion carriers.

Nadia Passon, Elisa Bregant, G. Damante, 2020, European journal of medical genetics.

Mesomelia‐synostoses syndrome: Description of a patient presenting a monoallelic expression of SULF1 without alterations in the SLCOA1 gene

B. Bembi, Elisa Bregant, G. Damante, 2018, Clinical genetics.

Quick MLPA test for quantification of SMN1 and SMN2 copy numbers.

Nadia Passon, Cristiano Molinis, Elisa Bregant, 2010, Molecular and Cellular Probes.

Down-regulation of SM22/transgelin gene expression during H9c2 cells differentiation

A. Scaloni, G. Tell, Nadia Passon, 2009, Molecular and Cellular Biochemistry.

A new germline VHL gene mutation in three patients with apparently sporadic pheochromocytoma

S. Filetti, D. Russo, F. Fogolari, 2013, Clinical endocrinology.

Evaluating the SERCA2 and VEGF mRNAs as Potential Molecular Biomarkers of the Onset and Progression in Huntington’s Disease

G. Siciliano, B. Peterlin, Elisa Bregant, 2015, PloS one.

A bird’s eye view on the use of whole exome sequencing in rare congenital ophthalmic diseases

Nadia Passon, Elisa Bregant, L. Allegri, 2024, Journal of human genetics.

The impact of the European Society of Cardiology guidelines and whole exome sequencing on genetic testing in hereditary cardiac diseases.

Elisa Bregant, L. Allegri, F. Baldan, 2024, Clinical genetics.