Edi Lúcia Sartorato

Universidade Estadual de Campinas UNICAMP - São Paulo / Brazil

Natural Sciences / Molecular Biology & Genetics

AD Scientific Index ID: 886299

State University of Campinas

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Edi Lúcia Sartorato's MOST POPULAR ARTICLES

1-) A novel deletion involving the connexin-30 gene, del (GJB6-d13s1854), found in trans with mutations in the GJB2 gene (connexin-26) in subjects with DFNB1 non-syndromic hearing …FJ Del Castillo, M Rodriguez-Ballesteros, A Alvarez, T Hutchin, ...Journal of medical genetics 42 (7), 588-594, 20053542005

2-) Prevalence and evolutionary origins of the del (GJB6-D13S1830) mutation in the DFNB1 locus in hearing-impaired subjects: a multicenter studyI Del Castillo, MA Moreno-Pelayo, FJ Del Castillo, Z Brownstein, S Marlin, ...The American Journal of Human Genetics 73 (6), 1452-1458, 20033372003

3-) Molecular heterogeneity of late-onset forms of globoid-cell leukodystrophy.R De Gasperi, MAG Sosa, EL Sartorato, S Battistini, H MacFarlane, ...American journal of human genetics 59 (6), 1233, 19961091996

4-) A novel DFNB1 deletion allele supports the existence of a distant cis‐regulatory region that controls GJB2 and GJB6 expressionE Wilch, H Azaiez, RA Fisher, J Elfenbein, A Murgia, R Birkenhäger, ...Clinical genetics 78 (3), 267-274, 20101002010

5-) Connexin 26 35delG does not represent a mutational hotspotCR Rothrock, A Murgia, EL Sartorato, E Leonardi, S Wei, SL Lebeis, ...Human genetics 113, 18-23, 2003742003

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