Výsledky vyhledávání - "Ermanna Lisi"

Validation of a method for noninvasive prenatal testing for fetal aneuploidies risk and considerations for its introduction in the Public Health System

Publikováno v: The Journal of Maternal-Fetal & Neonatal Medicine. 30:710-716

The aim of this study was to validate noninvasive prenatal testing (NIPT) for fetal aneuploidies by whole-genome massively parallel sequencing (MPS).MPS was performed on cell-free DNA (cfDNA) isolated from maternal plasma in two groups: a first set o

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9cb2db50592a3cb1958b67617c8cd931
https://doi.org/10.1080/14767058.2016.1183633

Zobrazit plný text záznamu

The Italian National External Quality Assessment Program in Cytogenetics: 4 years of activity (2013-2016) following the introduction of poor performance criteria

Autor: Maria Chiara, de Stefano, Giovanna, Floridia, Federica, Censi, Fabrizio, Tosto, Marco, Salvatore, Alessandro, Civolani, Barbara, Crescenzi, Daniela, Giardino, Elisabetta, Lenzini, Ermanna, Lisi, Fortunato, Lonardo, Marco, Mancini, Antonio, Novelli, Giuseppe, Piombo, Sabine, Stioui, Domenica, Taruscio

Publikováno v: Annali dell'Istituto superiore di sanita. 54(2)

Italian External Quality Assessment (IEQA) Program in Cytogenetics, established in 2001 by the Istituto Superiore di Sanità (ISS), covers both Constitutional and Oncohaematological diagnosis. In 2013, performance criteria were defined and adopted. I

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::db2a9fc6217525fdec81913714f6ef4b
https://pubmed.ncbi.nlm.nih.gov/29916415

Zobrazit plný text záznamu

De novo balanced chromosome rearrangements in prenatal diagnosis

Autor: Daniela Giardino, Cecilia Corti, Lucia Ballarati, Daniela Colombo, Elena Sala, Nicoletta Villa, Giuseppe Piombo, Mauro Pierluigi, Francesca Faravelli, Silvana Guerneri, Domenico Coviello, Faustina Lalatta, Ugo Cavallari, Daniela Bellotti, Sergio Barlati, Gianfranco Croci, Fabrizia Franchi, Elisa Savin, Gianfranco Nocera, Francesco Paolo Amico, Paola Granata, Rosario Casalone, Lucia Nutini, Ermanna Lisi, Francesca Torricelli, Ursula Giussani, Barbara Facchinetti, Ginevra Guanti, Marilena Di Giacomo, Francesco Paolo Susca, Vanna Pecile, Lorenza Romitti, Laura Cardarelli, Erika Racalbuto, Maria Adalgisa Police, Francamaria Chiodo, Ornella Rodeschini, Patrizia Falcone, Emilio Donti, Maria Grazia Grimoldi, Emanuela Martinoli, Sabine Stioui, Daniele Caufin, Salvatrice Antonia Lauricella, Salvatrice Antonella Tanzariello, Gianfranco Voglino, Elisabetta Lenzini, Marco Besozzi, Lidia Larizza, Leda Dalprà

Publikováno v: Prenatal Diagnosis. 29:257-265

Objective We surveyed the datasheets of 29 laboratories concerning prenatal diagnosis of de novo apparently balanced chromosome rearrangements to assess the involvement of specific chromosomes, the breakpoints distribution and the impact on the pregn

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::3f75a55a51e0e34f9641ea2b38e94f06
https://doi.org/10.1002/pd.2215

Zobrazit plný text záznamu

A rare case of cytogenetic discrepancy between extraembryonic and fetal tissue

Autor: Cariati E, R Nannini, L. Brizzi, M. Mariani, Francesca Torricelli, Ermanna Lisi

Publikováno v: Scopus-Elsevier

We present a case of false-negative discrepancy between extraembryonic and fetal tissue sampled at 14 weeks of amenorrhoea when ultrasound examination showed morphological anomalies of the fetus. The same cytogenetic characteristic was confirmed on t

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b13cf62c637f63b701812f39d46d79ce
https://doi.org/10.1002/pd.1970140413

Zobrazit plný text záznamu

Flow cytometric measurement of DNA content in human solid tumors: a comparison with cytogenetics

Autor: Anna Caldini, Andrea Amorosi, Stefano Rapi, Alessandra Fanelli, Eugenia Anichini, Gianluigi Taddei, Raffaella Caligiani, Piero Berti, Tommaso Susinia, Donata Villari, Ermanna Lisi, Fiammetta Sbernini

The aims of this study were: (1) to test the accuracy of flow cytometery (FC) in the measurement of DNA content in human solid tumors, (2) to correlate the FC DNA-index (DI) with the chromosome modal number (CMN) provided by cytogenetic analysis (CG)

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3df7074c13206ab367a3862b0859fe7c
http://hdl.handle.net/2158/651531

Zobrazit plný text záznamu

Endemic cretinism in Sicily

Autor: Ermanna Lisi, Francesco Trimarchi, Sebastiano Squatrito, François Delange, Riccardo Vigneri

This work reports the presence of endemic cretinism in a small district located inside an endemic goiter area in north-eastern Sicily, personally described. The study covers 19 mental defectives (11 females and 8 males, mean age 35.8 +/- 15.5 yr) sel

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1216a71a5824a313e87109d30120b1bc
http://hdl.handle.net/20.500.11769/10725

Zobrazit plný text záznamu

Vyhledávací nástroje:

Upřesnit hledání