Zobrazeno 1 - 10
of 22
pro vyhledávání: '"Maria Elena Sana"'
Autor:
Maria Elena Sana, Lawrence A Quilliam, Andrea Spitaleri, Laura Pezzoli, Daniela Marchetti, Chiara Lodrini, Elisabetta Candiago, Anna Rita Lincesso, Paolo Ferrazzi, Maria Iascone
Publikováno v:
PLoS ONE, Vol 11, Iss 12, p e0168501 (2016)
Several genetic conditions can lead to left ventricular hypertrophy (LVH). Among them, hypertrophic cardiomyopathy (HCM), caused by mutations in sarcomere genes, is the most common inherited cardiac disease. Instead, RASopathies, a rare class of diso
Externí odkaz:
https://doaj.org/article/59f93c5d8703448d9140bb170666ea05
Autor:
Paola Secchiero, Maria Elena Sana, Elisabetta Melloni, Raffaella Bosco, Maria Grazia di Iasio, Rebecca Voltan, Giorgio Zauli
Purpose: To elucidate new molecular mechanisms able to downregulate the mRNA levels of key oncogenes, such as B-Myb and E2F1, in a therapeutic perspective.Experimental Design:B-Myb and E2F1 mRNA levels were evaluated in primary B chronic lymphocytic
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0f7b299928b9a29bbce752d9fedc9294
https://doi.org/10.1158/1078-0432.c.6519210.v1
https://doi.org/10.1158/1078-0432.c.6519210.v1
Autor:
Maria Iascone, Diana Postorivo, Michele Pinelli, Maria Teresa Falco, Maria Elena Sana, Fabio Acquaviva, Anna Maria Nardone, Paolo Fontana, Matteo Della Monica, Fortunato Lonardo, Gioacchino Scarano
Publikováno v:
American Journal of Medical Genetics Part A. 173:231-238
Smith-Magenis syndrome (SMS) is a complex genetic disorder caused by interstitial 17p11.2 deletions encompassing multiple genes, including the retinoic acid induced 1 gene-RAI1-or mutations in RAI1 itself. The clinical spectrum includes developmental
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::92e4f7284b6b21ac2cb25ed2cda4a3d1
https://doi.org/10.1002/ajmg.a.37989
https://doi.org/10.1002/ajmg.a.37989
Autor:
Laura Pezzoli, Giovanna Musco, Maria Iascone, Andrea Spitaleri, Dimitrios Spiliotopoulos, Paolo Ferrazzi, Laura Preda, Maria Elena Sana
Publikováno v:
American Journal of Medical Genetics Part A. 164:2069-2073
Biventricular hypertrophy (BVH) is a disease state characterized by the thickening of the ventricle walls. The differential diagnosis of BVH with other congenital and familial diseases in which increased ventricle wall thickness is a prominent clinic
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::93a445cd419f16a789a20eb311dfc1c4
https://doi.org/10.1002/ajmg.a.36588
https://doi.org/10.1002/ajmg.a.36588
Autor:
Stefano, Volinia, Gerard, Nuovo, Alessandra, Drusco, Stefan, Costinean, Ramzey, Abujarour, Caroline, Desponts, Michela, Garofalo, Raffaele, Baffa, Rami, Aeqilan, Kati, Maharry, Maria Elena, Sana, Maria Elena Sana Ramiro, Garzon, Gianpiero, Di Leva, Pierluigi, Gasparini, Paola, Dama, Jlenia, Marchesini, Marco, Galasso, Marco, Manfrini, Carlotta, Zerbinati, Fabio, Corrà, Timothy, Wise, Sylwia E, Wojcik, Maurizio, Previati, Flavia, Pichiorri, Nicola, Zanesi, Hansjuerg, Alder, Jeff, Palatini, Kay F, Huebner, Charles L, Shapiro, Massimo, Negrini, Andrea, Vecchione, Anne L, Rosenberg, Carlo M, Croce, Ramiro, Garzon
Publikováno v:
Journal of the National Cancer Institute. 106(12)
Background The purpose of this study is to determine whether microRNA for pluripotent stem cells are also expressed in breast cancer and are associated with metastasis and outcome. Methods We studied global microRNA profiles during differentiation of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e512fb5e0fabf6a401bf7915d47001e1
https://pubmed.ncbi.nlm.nih.gov/25306216
https://pubmed.ncbi.nlm.nih.gov/25306216
Autor:
Laura Pezzoli, Maria Iascone, Maria Elena Sana, Giovanna Mangili, Paolo Ferrazzi, Paolo Emilio Bianchi, Flavia Fabiani, Youcef Sadou, Daniela Marchetti, Anna Locatelli, Giorgio Fasolini
Publikováno v:
Circulation. 126:2764-2768
A female newborn was referred at birth to our hospital because of respiratory distress. Her family history was unremarkable except for the first-degree consanguinity of her parents. She had a mildly dysmorphic appearance, generalized hypotonia, and s
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::944254373182272344589c492495b7f1
https://doi.org/10.1161/circulationaha.112.119883
https://doi.org/10.1161/circulationaha.112.119883
Publikováno v:
Gene. 507:165-169
We describe a male patient affected by hypertrophic cardiomyopathy (HCM) with no point mutations in the eight sarcomeric genes most commonly involved in the disease. By multiple ligation-dependent probe amplification (MLPA) we have identified a multi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9480eec03bdbbe16c60e25abde5ec7c2
https://doi.org/10.1016/j.gene.2012.06.097
https://doi.org/10.1016/j.gene.2012.06.097
Autor:
Adriano Angioni, Marco Castori, Mauro Paradisi, Michela Malacarne, Gianluca Tadini, Maria Iascone, F. Forzano, Paola Grammatico, Silvia Morlino, Maria Elena Sana
Publikováno v:
Clinical and experimental dermatology. 41(6)
Palmoplantar keratoderma-congenital alopecia (PPKCA) syndrome is a rare genodermatosis, with two clinically recognizable forms: dominant (Type 1) and recessive (Type 2). Reports of only 18 patients have been published to date, and the molecular basis
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dcd0c3ae83a0e37673675411cec1bfe6
https://pubmed.ncbi.nlm.nih.gov/27339777
https://pubmed.ncbi.nlm.nih.gov/27339777
Autor:
Juan Carlos Pernía, Luis Guillermo Palacios Sanabria, María de la Luz Trasfi Mosqueda, María Elena Sanabria Chópite
Publikováno v:
Revista de Ciencias Sociales, Vol 28, Iss 1, Pp 367-385 (2022)
La implementación de la Responsabilidad Social Universitaria y las metas de los Objetivos de Desarrollo Sostenible se analizaron, mediante una revisión documental de esbozos teóricos relacionados con los constructos mencionados, como alternativa p
Externí odkaz:
https://doaj.org/article/11697d3c9e414a9b84f20f0498248a4e
Autor:
Alessandra Fornaro, Maria Elena Sana, Cristina Basso, Piera Angelica Merlini, Giuseppina Marseglia, Matteo Benelli, Chiara Pescucci, Maria Iascone, Sara Bardi, Iacopo Olivotto, Benedetta Tomberli, Franco Cecchi, Francesca Girolami, Laura Pezzoli, Francesca Torricelli, Nicola Marziliano
Publikováno v:
Circulation. Cardiovascular genetics. 7(6)
Background— Next-generation sequencing might be particularly advantageous in genetically heterogeneous conditions, such as hypertrophic cardiomyopathy (HCM), in which a considerable proportion of patients remain undiagnosed after Sanger. In this st
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8ffd809e82e842f5270d2176eac2fb00
https://pubmed.ncbi.nlm.nih.gov/25173926
https://pubmed.ncbi.nlm.nih.gov/25173926