Germinal mosaicism for a deletion of the FMR1 gene leading to fragile X syndrome
Jiraanont, Poonnada, Hagerman, R.J, Neri, G, Zollino, M, Murdolo, M, Tassone, F
Published in European journal of medical genetics (01.09.2016)
Published in European journal of medical genetics (01.09.2016)
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Journal Article
Cell cycle perturbation in a human hepatoblastoma cell line constitutively expressing Hepatitis C virus core protein
RUGGIERI, A, MURDOLO, M, HARADA, T, MIYAMURA, T, RAPICETTA, M
Published in Archives of virology (01.01.2004)
Published in Archives of virology (01.01.2004)
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Journal Article
PTPN11 mutations are not responsible for the Cardiofaciocutaneous (CFC) syndrome
KAVAMURA, M. I, POMPONI, M. G, ZOLLINO, M, LECCE, R, MURDOLO, M, BRUNONI, D, ALCHORNE, M. M. A, OPITZ, J. M, NERI, G
Published in European journal of human genetics : EJHG (01.01.2003)
Published in European journal of human genetics : EJHG (01.01.2003)
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Journal Article
The first 4p euchromatic variant in a healthy carrier having an unusual reproductive history
Rodríguez, L., Zollino, M., Mansilla, E., Martínez‐Fernández, M.L., Pérez, P., Murdolo, M., Martínez‐Frías, M.L.
Published in American journal of medical genetics. Part A (01.05.2007)
Published in American journal of medical genetics. Part A (01.05.2007)
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Journal Article
Absence of 12q21.2q22 deletions and subtelomeric rearrangements in cardiofaciocutaneous (CFC) syndrome patients
Kavamura, M.I., Zollino, M., Lecce, R., Murdolo, M., Brunoni, D., Alchorne, M.M.A., Opitz, J.M., Neri, G.
Published in American journal of medical genetics. Part A (01.06.2003)
Published in American journal of medical genetics. Part A (01.06.2003)
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Journal Article
On the nosology and pathogenesis of Wolf-Hirschhorn syndrome: Genotype-phenotype correlation analysis of 80 patients and literature review
Zollino, Marcella, Murdolo, Marina, Marangi, Giuseppe, Pecile, Vanna, Galasso, Cinzia, Mazzanti, Laura, Neri, Giovanni
Published in American journal of medical genetics. Part C, Seminars in medical genetics (15.11.2008)
Published in American journal of medical genetics. Part C, Seminars in medical genetics (15.11.2008)
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Journal Article
Mapping the Wolf-Hirschhorn Syndrome Phenotype Outside the Currently Accepted WHS Critical Region and Defining a New Critical Region, WHSCR-2
Zollino, Marcella, Lecce, Rosetta, Fischetto, Rita, Murdolo, Marina, Faravelli, Francesca, Selicorni, Angelo, Buttè, Cinzia, Memo, Luigi, Capovilla, Giuseppe, Neri, Giovanni
Published in American journal of human genetics (01.03.2003)
Published in American journal of human genetics (01.03.2003)
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Journal Article
Rare missense variants of neuronal nicotinic acetylcholine receptor altering receptor function are associated with sporadic amyotrophic lateral sclerosis
Sabatelli, Mario, Eusebi, Fabrizio, Al-Chalabi, Ammar, Conte, Amelia, Madia, Francesca, Luigetti, Marco, Mancuso, Irene, Limatola, Cristina, Trettel, Flavia, Sobrero, Fabrizia, Di Angelantonio, Silvia, Grassi, Francesca, Di Castro, Amalia, Moriconi, Claudia, Fucile, Sergio, Lattante, Serena, Marangi, Giuseppe, Murdolo, Marina, Orteschi, Daniela, Del Grande, Alessandra, Tonali, Pietro, Neri, Giovanni, Zollino, Marcella
Published in Human molecular genetics (15.10.2009)
Published in Human molecular genetics (15.10.2009)
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Journal Article
Wolf-Hirschhorn syndrome-associated chromosome changes are not mediated by olfactory receptor gene dusters nor by inversion polymorphism on 4p16
Zollino, M, Lecce, R, Murdolo, M, Orteschi, D, Marangi, G, Selicorni, A, Midro, A, Sorge, G, Zampino, G, Memo, L, Battaglia, D, Petersen, M, Pandelia, E, Gyftodimou, Y
Published in Human genetics (01.04.2008)
Published in Human genetics (01.04.2008)
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Journal Article
Wolf-Hirschhorn syndrome-associated chromosome changes are not mediated by olfactory receptor gene clusters nor by inversion polymorphism on 4p16
Zollino, Marcella, Lecce, Rosetta, Murdolo, Marina, Orteschi, Daniela, Marangi, Giuseppe, Selicorni, Angelo, Midro, Alina, Sorge, Giovanni, Zampino, Giuseppe, Memo, Luigi, Battaglia, Domenica, Petersen, Michael, Pandelia, Effie, Gyftodimou, Yolanda, Faravelli, Francesca, Tenconi, Romano, Garavelli, Livia, Mazzanti, Laura, Fischetto, Rita, Cavalli, Pietro, Savasta, Salvatore, Rodriguez, Laura, Neri, Giovanni
Published in Human genetics (01.12.2007)
Published in Human genetics (01.12.2007)
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Journal Article
The euchromatic 9p+ polymorphism is a locus-specific amplification caused by repeated copies of a small DNA segment mapping within 9p12
LECCE, Rosetta, MURDOLO, Marina, GELLI, Gianfranco, STEINDL, Katharina, COPPOLA, Livia, ROMANO, Anna, CUPELLI, Elisa, NERI, Giovanni, ZOLLINO, Marcella
Published in Human genetics (01.02.2006)
Published in Human genetics (01.02.2006)
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Journal Article
The new Wolf–Hirschhorn syndrome critical region (WHSCR‐2): A description of a second case
Rodríguez, Laura, Zollino, Marcella, Climent, Salvador, Mansilla, Elena, López‐Grondona, Fermina, Martínez‐Fernández, María Luisa, Murdolo, Marina, Martínez‐Frías, María Luisa
Published in American journal of medical genetics. Part A (15.07.2005)
Published in American journal of medical genetics. Part A (15.07.2005)
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Journal Article
A double cryptic chromosome imbalance is an important factor to explain phenotypic variability in Wolf-Hirschhorn syndrome
ZOLLINO, Marcella, LECCE, Rosetta, OPITZ, John M, NERI, Giovanni, SELICORNI, Angelo, MURDOLO, Marina, MANCUSO, Irene, MARANGI, Giuseppe, ZAMPINO, Giuseppe, GARAVELLI, Livia, FERRARINI, Alessandra, ROCCHI, Mariano
Published in European journal of human genetics : EJHG (01.10.2004)
Published in European journal of human genetics : EJHG (01.10.2004)
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