Real-time quantitative PCR as a routine method for screening large rearrangements in Rett syndrome: Report of one case of MECP2 deletion and one case of MECP2 duplication
Ariani, Francesca, Mari, Francesca, Pescucci, Chiara, Longo, Ilaria, Bruttini, Mirella, Meloni, Ilaria, Hayek, Giuseppe, Rocchi, Raffaele, Zappella, Michele, Renieri, Alessandra
Published in Human mutation (01.08.2004)
Published in Human mutation (01.08.2004)
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Investigation of modifier genes within copy number variations in Rett syndrome
Artuso, Rosangela, Papa, Filomena T, Grillo, Elisa, Mucciolo, Mafalda, Yasui, Dag H, Dunaway, Keith W, Disciglio, Vittoria, Mencarelli, Maria A, Pollazzon, Marzia, Zappella, Michele, Hayek, Giuseppe, Mari, Francesca, Renieri, Alessandra, Lasalle, Janine M, Ariani, Francesca
Published in Journal of human genetics (01.07.2011)
Published in Journal of human genetics (01.07.2011)
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Study of MECP2 gene in Rett syndrome variants and autistic girls
Zappella, Michele, Meloni, Ilaria, Longo, Ilaria, Canitano, Roberto, Hayek, Giuseppe, Rosaia, Lucia, Mari, Francesca, Renieri, Alessandra
Published in American journal of medical genetics. Part B, Neuropsychiatric genetics (15.05.2003)
Published in American journal of medical genetics. Part B, Neuropsychiatric genetics (15.05.2003)
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Erratum: Investigation of modifier genes within copy number variations in Rett syndrome
Artuso, Rosangela, Papa, Filomena T, Grillo, Elisa, Mucciolo, Mafalda, Yasui, Dag H, Dunaway, Keith W, Disciglio, Vittoria, Mencarelli, Maria A, Pollazzon, Marzia, Zappella, Michele, Hayek, Giuseppe, Mari, Francesca, Renieri, Alessandra, LaSalle, Janine M, Ariani, Francesca
Published in Journal of human genetics (25.05.2012)
Published in Journal of human genetics (25.05.2012)
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Journal Article
Investigation of modifier genes within copy number variations in Rett syndrome
Artuso, Rosangela, Papa, Filomena T, Grillo, Elisa, Mucciolo, Mafalda, Yasui, Dag H, Dunaway, Keith W, Disciglio, Vittoria, Mencarelli, Maria A, Pollazzon, Marzia, Zappella, Michele, Hayek, Giuseppe, Mari, Francesca, Renieri, Alessandra, LaSalle, Janine M, Ariani, Francesca
Published in Journal of human genetics (01.07.2011)
Published in Journal of human genetics (01.07.2011)
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MECP2 gene mutation analysis in the British and Italian Rett Syndrome patients: hot spot map of the most recurrent mutations and bioinformatic analysis of a new MECP2 conserved region
Vacca, Marcella, Filippini, Francesco, Budillon, Alberta, Rossi, Valeria, Della Ragione, Floriana, De Bonis, Maria Luigia, Mercadante, Grazia, Manzati, Elisa, Gualandi, Francesca, Bigoni, Stefania, Trabanelli, Cecilia, Pini, Giorgio, Calzolari, Elisa, Ferlini, Alessandra, Meloni, Ilaria, Hayek, Giuseppe, Zappella, Michele, Renieri, Alessandra, D'Urso, Michele, D'Esposito, Maurizio, Macdonald, Fiona, Kerr, Alison, Dhanjal, Seema, Hulten, Maj
Published in Brain & development (Tokyo. 1979) (01.12.2001)
Published in Brain & development (Tokyo. 1979) (01.12.2001)
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Conference Proceeding
Reduced expression of MECP2 affects cell commitment and maintenance in neurons by triggering senescence: new perspective for Rett syndrome
Squillaro, Tiziana, Alessio, Nicola, Cipollaro, Marilena, Melone, Mariarosa Anna Beatrice, Hayek, Giuseppe, Renieri, Alessandra, Giordano, Antonio, Galderisi, Umberto
Published in Molecular biology of the cell (15.04.2012)
Published in Molecular biology of the cell (15.04.2012)
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Journal Article
CDKL5 belongs to the same molecular pathway of MeCP2 and it is responsible for the early-onset seizure variant of Rett syndrome
Mari, Francesca, Azimonti, Sara, Bertani, Ilaria, Bolognese, Fabrizio, Colombo, Elena, Caselli, Rossella, Scala, Elisa, Longo, Ilaria, Grosso, Salvatore, Pescucci, Chiara, Ariani, Francesca, Hayek, Giuseppe, Balestri, Paolo, Bergo, Anna, Badaracco, Gianfranco, Zappella, Michele, Broccoli, Vania, Renieri, Alessandra, Kilstrup-Nielsen, Charlotte, Landsberger, Nicoletta
Published in Human molecular genetics (15.07.2005)
Published in Human molecular genetics (15.07.2005)
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iPS cells to model CDKL5-related disorders
AMENDUNI, Mariangela, DE FILIPPIS, Roberta, ELLIS, James, MELONI, Ilaria, YL CHEUNG, Aaron, DISCIGLIO, Vittoria, EPISTOLATO, Maria Carmela, ARIANI, Francesca, MARI, Francesca, MENCARELLI, Maria Antonietta, HAYEK, Youssef, RENIERI, Alessandra
Published in European journal of human genetics : EJHG (01.12.2011)
Published in European journal of human genetics : EJHG (01.12.2011)
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Journal Article
FOXG1 Is Responsible for the Congenital Variant of Rett Syndrome
Ariani, Francesca, Hayek, Giuseppe, Rondinella, Dalila, Artuso, Rosangela, Mencarelli, Maria Antonietta, Spanhol-Rosseto, Ariele, Pollazzon, Marzia, Buoni, Sabrina, Spiga, Ottavia, Ricciardi, Sara, Meloni, Ilaria, Longo, Ilaria, Mari, Francesca, Broccoli, Vania, Zappella, Michele, Renieri, Alessandra
Published in American journal of human genetics (01.07.2008)
Published in American journal of human genetics (01.07.2008)
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A case report: Bone marrow mesenchymal stem cells from a rett syndrome patient are prone to senescence and show a lower degree of apoptosis
Squillaro, Tiziana, Hayek, Giuseppe, Farina, Ernesto, Cipollaro, Marilena, Renieri, Alessandra, Galderisi, Umberto
Published in Journal of cellular biochemistry (15.04.2008)
Published in Journal of cellular biochemistry (15.04.2008)
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Clinical and molecular characterization of a patient with a 2q31.2‐32.3 deletion identified by array‐CGH
Mencarelli, Maria Antonietta, Caselli, Rossella, Pescucci, Chiara, Hayek, Giuseppe, Zappella, Michele, Renieri, Alessandra, Mari, Francesca
Published in American journal of medical genetics. Part A (15.04.2007)
Published in American journal of medical genetics. Part A (15.04.2007)
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Journal Article
Ultrastructural study of enteric ganglia in three patients with Rett syndrome
Malandrini, Alessandro, Hayek, Giuseppe, Villanova, Marcello, Aucone, Anna Maria, Berti, Gianna, Vernillo, Remo, Zappella, Michele, Guazzi, Gian Carlo
Published in Brain & development (Tokyo. 1979) (01.12.1998)
Published in Brain & development (Tokyo. 1979) (01.12.1998)
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Preserved speech variants of the Rett syndrome: molecular and clinical analysis
Zappella, M, Meloni, I, Longo, I, Hayek, G, Renieri, A
Published in American journal of medical genetics (15.11.2001)
Published in American journal of medical genetics (15.11.2001)
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Journal Article
MECP2 mutation in male patients with non-specific X-linked mental retardation
Orrico, Alfredo, Lam, Ching-Wan, Galli, Lucia, Dotti, Maria Teresa, Hayek, Giuseppe, Tong, Sui-Fan, Poon, Priscilla M.K., Zappella, Michele, Federico, Antonio, Sorrentino, Vincenzo
Published in FEBS letters (22.09.2000)
Published in FEBS letters (22.09.2000)
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Journal Article
High frequency of COH1 intragenic deletions and duplications detected by MLPA in patients with Cohen syndrome
PARRI, Veronica, KATZAKI, Eleni, BRANCATI, Francesco, DALLAPICCOLA, Bruno, ZELANTE, Leopoldo, HAMEL, Christian P, SARDA, Pierre, LALANI, Seema R, GRASSO, Rita, BUONI, Sabrina, HAYEK, Joussef, SERVAIS, Laurent, ULIANA, Vera, DE VRIES, Bert Ba, GEORGOUDI, Nelly, NAKOU, Sheena, PETERSEN, Michael B, MARI, Francesca, RENIERI, Alessandra, ARIANI, Francesca, SCIONTI, Francesca, TITA, Rossella, ARTUSO, Rosangela, LONGO, Ilaria, BOSCHLOO, Renske, VIJZELAAR, Raymon, SELICORNI, Angelo
Published in European journal of human genetics : EJHG (01.10.2010)
Published in European journal of human genetics : EJHG (01.10.2010)
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Journal Article
MECP2 deletions and genotype-phenotype correlation in Rett syndrome
Scala, Elisa, Longo, Ilaria, Ottimo, Federica, Speciale, Caterina, Sampieri, Katia, Katzaki, Eleni, Artuso, Rosangela, Mencarelli, Maria Antonietta, D'Ambrogio, Tatiana, Vonella, Giuseppina, Zappella, Michele, Hayek, Giuseppe, Battaglia, Agatino, Mari, Francesca, Renieri, Alessandra, Ariani, Francesca
Published in American journal of medical genetics. Part A (01.12.2007)
Published in American journal of medical genetics. Part A (01.12.2007)
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Journal Article
Italian Rett database and biobank
Sampieri, Katia, Meloni, Ilaria, Scala, Elisa, Ariani, Francesca, Caselli, Rossella, Pescucci, Chiara, Longo, Ilaria, Artuso, Rosangela, Bruttini, Mirella, Mencarelli, Maria Antonietta, Speciale, Caterina, Causarano, Vincenza, Hayek, Giuseppe, Zappella, Michele, Renieri, Alessandra, Mari, Francesca
Published in Human mutation (01.04.2007)
Published in Human mutation (01.04.2007)
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Corrigendum to “MECP2 gene mutation analysis in the British and Italian Rett Syndrome patients: hot spot map of the most recurrent mutations and bioinformatic analysis of a new MECP2 conserved region” [Brain Dev 2001; 23: S246–50]
Vacca, Marcella, Filippini, Francesco, Budillon, Alberta, Rossi, Valeria, Ragione, Floriana Della, De Bonis, Maria Luigia, Mercadante, Grazia, Manzati, Elisa, Gualandi, Francesca, Bigoni, Stefania, Trabanelli, Cecilia, Pini, Giorgio, Calzolari, Elisa, Ferlini, Alessandra, Meloni, Ilaria, Hayek, Giuseppe, Zappella, Michele, Renieri, Alessandra, D’Urso, Michele, D’Esposito, Maurizio, Macdonald, Fiona, Kerr, Alison, Dhanjal, Seema, Hulten, Maj
Published in Brain & development (Tokyo. 1979) (01.11.2012)
Published in Brain & development (Tokyo. 1979) (01.11.2012)
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Journal Article
Delineation of the phenotype associated with 7q36.1q36.2 deletion: Long QT syndrome, renal hypoplasia and mental retardation
Caselli, Rossella, Mencarelli, Maria Antonietta, Papa, Filomena Tiziana, Ariani, Francesca, Longo, Ilaria, Meloni, Ilaria, Vonella, Giuseppina, Acampa, Maurizio, Auteri, Alberto, Vicari, Stefano, Orsi, Alessandra, Hayek, Giuseppe, Renieri, Alessandra, Mari, Francesca
Published in American journal of medical genetics. Part A (01.05.2008)
Published in American journal of medical genetics. Part A (01.05.2008)
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