Elisa Bregant

Elisa Bregant

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Elisa Bregant

Elisa Bregant

Publications by authors named "Elisa Bregant"

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11Publications

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

Clin Genet 2019 Feb 18;95(2):336-338. Epub 2018 Nov 18.

Regional Coordinator Centre for Rare Diseases, Department of Laboratory Medicine, Academic Hospital "Santa Maria della Misericordia" Udine, Udine, Italy.

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http://doi.wiley.com/10.1111/cge.13464
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http://dx.doi.org/10.1111/cge.13464DOI Listing
February 2019

Somatic amplifications and deletions in genome of papillary thyroid carcinomas.

Endocrine 2015 Nov 12;50(2):453-64. Epub 2015 Apr 12.

Azienda Ospedaliero-Universitaria S. Maria della Misericordia, Udine, Italy.

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http://dx.doi.org/10.1007/s12020-015-0592-zDOI Listing
November 2015

The hOGG1 Ser326Cys polymorphism and Huntington's disease.

Toxicology 2010 Dec 24;278(2):199-203. Epub 2009 Oct 24.

Department of Neuroscience, Neurological Clinic, University of Pisa, Via Roma 67, 56126 Pisa, Italy.

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http://dx.doi.org/10.1016/j.tox.2009.10.019DOI Listing
December 2010

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

Mol Cell Probes 2010 Oct 24;24(5):310-4. Epub 2010 Jul 24.

Dipartimento di Scienze e Tecnologie Biomediche, Università di Udine, P.le M. Kolbe 1, 33100 Udine, Italy.

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http://dx.doi.org/10.1016/j.mcp.2010.07.001DOI Listing
October 2010

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

Mol Cell Biochem 2009 Dec 25;332(1-2):67-75. Epub 2009 Jun 25.

Azienda Ospedaliero-Universitaria S. Maria della Misericordia Udine, Udine, Italy.

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http://dx.doi.org/10.1007/s11010-009-0175-5DOI Listing
December 2009

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

Mol Cell Biochem 2009 Jul 18;327(1-2):145-52. Epub 2009 Feb 18.

Dipartimento di Scienze e Tecnologie Biomediche, Università di Udine, Piazzale Kolbe 1, 33100 Udine, Italy.

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http://dx.doi.org/10.1007/s11010-009-0052-2DOI Listing
July 2009

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

Genet Test Mol Biomarkers 2009 Feb;13(1):37-42

Dipartimento di Scienze e Tecnologie Biomediche, Università degli Studi, Udine, Italy.

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http://dx.doi.org/10.1089/gtmb.2008.0084DOI Listing
February 2009

Molecular analysis of a human PAX6 homeobox mutant.

Eur J Hum Genet 2006 Jun;14(6):744-51

Dipartimento di Scienze e Tecnologie Biomediche, Università di Udine, Udine, Italy.

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http://dx.doi.org/10.1038/sj.ejhg.5201579DOI Listing
June 2006