Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Carla Cesarano"'
Autor:
Margaglione, Maria d’Apolito, Caterina Ceccarini, Rosa Savino, Iolanda Adipietro, Ighli di Bari, Rosa Santacroce, Maria Curcetti, Giovanna D’Andrea, Anna-Irma Croce, Carla Cesarano, Anna Nunzia Polito, Maurizio
Publikováno v:
Genes; Volume 14; Issue 7; Pages: 1380
Background: Essential tremor (ET) is one of the more common movement disorders. Current diagnosis is solely based on clinical findings. ET appears to be inherited in an autosomal dominant pattern. Several loci on specific chromosomes have been studie
Autor:
Caterina Ceccarini, Valentina Imperatore, Stefania Troiani, Monia Magliozzi, Anna Maria Nardone, Amedea Mencarelli, Paolo Prontera, Antonio Novelli, Fortunato Lonardo, Daniela Rogaia, Maria Cristina Digilio, Maria Teresa Falco, Carla Cesarano, Marco Seri, Maria Giovanna Tedesco, Paolo Fontana, Chiara Leoni, Carmelo Piscopo
Publikováno v:
American Journal of Medical Genetics Part A. 185:1204-1210
Feingold Syndrome type 1 (FS1) is an autosomal dominant disorder due to a loss of function mutations in the MYCN gene. FS1 is generally clinically characterized by mild learning disability, microcephaly, short palpebral fissures, short stature, brach
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:
Maria Grazia Gallicchio, Caterina Ceccarini, Carla Cesarano, Nenad Bukvic, Marianna Bruno, Maria Rosaria Lipsi, Lucia Valente, Raffaele Antonetti, Giulia Cotoia, Maria Assunta Carboni
Publikováno v:
Gene, 513, 111-7
Gene, 513, 1, pp. 111-7
Gene, 513, 1, pp. 111-7
Item does not contain fulltext Herein, we describe a case of an infertile man detected in postnatal diagnosis with FISH characterization and array-CGH used for genome-wide screening which allowed the identification of a complex rearrangement involvin
Autor:
Nenad Bukvic, Ginevra Guanti, Evangelia Manisali, Carla Cesarano, Francesco Susca, Marilena Carmela Di Giacomo
Publikováno v:
Prenatal Diagnosis. 24:619-622
The detection of very rare variants in prenatal diagnosis often causes counseling difficulties and anxiety in parents. We describe a duplication of the proximal region of chromosome 9 short arm in two cases of prenatal diagnosis and in one young woma
Autor:
Carla Cesarano, Vittoria Longo, V. Delli Carri, R. Santacroce, G. Pustorino, Nenad Bukvic, Michelina Sarno, M. L. Di Cosola, Antonio Novelli, Massimiliano Chetta, Maurizio Margaglione, Francesco Sessa, Mattia Gentile
X;Y translocation is a relatively rare event in humans. Analyzed cytogenetically, the majority of these aberrations have breakpoints at Xp22 and Yq11. Females with t(X;Y)(p22;q11) are phenotypically normal except for short stature, while the males ma
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a56f1eefe5c043835155fd7d5c56474a
http://hdl.handle.net/20.500.11769/528964
http://hdl.handle.net/20.500.11769/528964