Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Antonella Pettinari"'
Autor:
Stefania Zampieri, Silvia Cattarossi, Ana Maria Oller Ramirez, Camillo Rosano, Charles Marques Lourenco, Nadia Passon, Isabella Moroni, Graziella Uziel, Antonella Pettinari, Franco Stanzial, Raquel Dodelson de Kremer, Nydia Beatriz Azar, Filiz Hazan, Mirella Filocamo, Bruno Bembi, Andrea Dardis
Publikováno v:
PLoS ONE, Vol 7, Iss 7, p e41516 (2012)
Sandhoff disease (SD) is a lysosomal disorder caused by mutations in the HEXB gene. To date, 43 mutations of HEXB have been described, including 3 large deletions. Here, we have characterized 14 unrelated SD patients and developed a Multiplex Ligatio
Externí odkaz:
https://doaj.org/article/dd4476baf4464294933a6b2da0c8bb6e
Autor:
Francesca Romana Grati, Ilaria Bestetti, Daria De Siero, Francesca Malvestiti, Nicoletta Villa, Elena Sala, Francesca Crosti, Valentina Parisi, Anna Maria Nardone, Gianluca Di Giacomo, Antonella Pettinari, Giada Tortora, Annamaria Montaldi, Annapaola Calò, Donatella Saccilotto, Sara Zanchetti, Paola Celli, Silvana Guerneri, Rosamaria Silipigni, Laura Cardarelli, Elisabetta Lippi, Simona Cavani, Michela Malacarne, Rita Genesio, Nicola Beltrami, Maria Carla Pittalis, Laura Desiderio, Mattia Gentile, Romina Ficarella, Maria Paola Recalcati, Ilaria Catusi, Maria Garzo, Lorena Miele, Cecilia Corti, Sara Ghezzo, Veronica Bertini, Francesca Cambi, Angelo Valetto, Barbara Facchinetti, Laura Bernardini, Anna Capalbo, Federica Balducci, Elisabetta Pelo, Barbara Minuti, Chiara Pescucci, Costanza Giuliani, Alessandra Renieri, Ilaria Longo, Rossella Tita, Giuseppe Castello, Rosario Casalone, Rossana Righi, Barbara Raso, Alessandro Civolani, Maria Cristina Muzi, Manuela di Natale, Luigia Varriale, Daniela Gasperini, Maria Cristina Nuzzi, Angelo Cellamare, Paola Casieri, Rosa Busuito, Caterina Ceccarini, Carla Cesarano, Orsola Privitera, Daniela Melani, Cristina Menozzi, Cristina Falcinelli, Olga Calabrese, Paola Battaglia, Antonella Tanzariello, Tamara Stampalija, Carmela Ardisia, Paolo Gasparini, Peter Benn, Antonio Novelli
Objectives: To establish the positive predictive values (PPV) of cfDNA testing based on data from a nationwide survey of independent clinical cytogenetics laboratories. Methods: Prenatal diagnostic test results obtained by Italian laboratories betwee
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::deddef97ee50604835da23b5f9aa9edb
https://hdl.handle.net/11368/3035240
https://hdl.handle.net/11368/3035240
Autor:
Giancarlo Discepoli, Anna Maria Ciaschini, Antonella Pettinari, Maria Valeria Migliori, Francesco Pigliapoco, Paola Piermattei
Publikováno v:
Prenatal Diagnosis. 24:290-292
We report the prenatal diagnosis of an extra der(4) resulting from 4:2 malsegregation of a maternal balanced complex translocation involving chromosomes 4, 10, and 11. The woman was referred for amniocentesis because of recurrent miscarriages. Fluore
Autor:
Ana María Oller Ramírez, Stefania Zampieri, Andrea Dardis, Filiz Hazan, Graziella Uziel, Isabella Moroni, Silvia Cattarossi, Raquel Dodelson de Kremer, Camillo Rosano, Charles Marques Lourenço, Antonella Pettinari, Mirella Filocamo, Nydia Beatriz Azar, Bruno Bembi, Nadia Passon, Franco Stanzial
Publikováno v:
Repositório Institucional da USP (Biblioteca Digital da Produção Intelectual)
Universidade de São Paulo (USP)
instacron:USP
PLoS ONE, Vol 7, Iss 7, p e41516 (2012)
PLoS ONE
Universidade de São Paulo (USP)
instacron:USP
PLoS ONE, Vol 7, Iss 7, p e41516 (2012)
PLoS ONE
Sandhoff disease (SD) is a lysosomal disorder caused by mutations in the HEXB gene. To date, 43 mutations of HEXB have been described, including 3 large deletions. Here, we have characterized 14 unrelated SD patients and developed a Multiplex Ligatio
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::32ae1953e2f3e0101d5f29c3ea45341b
Autor:
Leda Dalprà, Daniela Giardino, Palma Finelli, Cecilia Corti, Chiara Valtorta, Silvana Guerneri, Patrizia Ilardi, Renato Fortuna, Domenico Coviello, Gianfranco Nocera, Francesco Paolo Amico, Emanuela Martinoli, Elena Sala, Nicoletta Villa, Francesca Crosti, Francamaria Chiodo, Ludovica Verdun di Cantogno, Elisa Savin, Gianfranco Croci, Fabrizia Franchi, Giovanna Venti, Emilio Donti, Valeria Migliori, Antonella Pettinari, Stefania Bonifacio, Claudia Centrone, Francesca Torricelli, Simona Rossi, Paolo Simi, Paola Granata, Rosario Casalone, Elisabetta Lenzini, Lina Artifoni, Vanna Pecile, Sergio Barlati, Daniela Bellotti, Daniele Caufin, Adalgisa Police, Simona Cavani, Giuseppe Piombo, Mauro Pierluigi, Lidia Larizza
PURPOSE: We evaluated the experiences of 19 Italian laboratories concerning 241 small supernumerary marker chromosomes (sSMCs) with the aim of answering questions arising from their origin from any chromosome, their variable size and genetic content,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::624fc5449efab3a5dfa3ee4dbddb64a2
http://hdl.handle.net/11379/26069
http://hdl.handle.net/11379/26069
Autor:
Maria Valeria Migliori, E. Bartolotta, Valentino Cherubini, Rolando Pecora, Antonella Pettinari
Publikováno v:
American journal of medical genetics. 49(1)
The authors report on a case of ring chromosome 5 in a 36-month-old girl with severe growth retardation, clinodactyly, mild psychological abnormalities, and normal facial appearance. Endocrine tests showed partial growth hormone deficiency. Cytogenet