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Investigation of modifier genes within copy number variations in Rett syndrome.
Published in:
Journal of Human Genetics, 2012, v. 57, n. 5, p. 342, doi. 10.1038/jhg.2012.30
By:
- 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
Publication type:
Article
Investigation of modifier genes within copy number variations in Rett syndrome.
Published in:
Journal of Human Genetics, 2011, v. 56, n. 7, p. 508, doi. 10.1038/jhg.2011.50
By:
- 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
Publication type:
Article
A case report: Bone marrow mesenchymal stem cells from a rett syndrome patient are prone to senescence and show a lower degree of apoptosis.
Published in:
Journal of Cellular Biochemistry, 2008, v. 103, n. 6, p. 1877, doi. 10.1002/jcb.21582
By:
- Squillaro, Tiziana;
- Hayek, Giuseppe;
- Farina, Ernesto;
- Cipollaro, Marilena;
- Renieri, Alessandra;
- Galderisi, Umberto
Publication type:
Article
Mutation analysis of the MECP2 gene in British and Italian Rett syndrome females.
Published in:
Journal of Molecular Medicine, 2001, v. 78, n. 11, p. 648, doi. 10.1007/s001090000155
By:
- Vacca, Marcella;
- Filippini, Francesco;
- Budillon, Alberta;
- Rossi, Valeria;
- 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
Publication type:
Article
Three Rett patients with both MECP2 mutation and 15q11-13 rearrangements.
Published in:
European Journal of Human Genetics, 2004, v. 12, n. 8, p. 682, doi. 10.1038/sj.ejhg.5201198
By:
- Ilaria Longo;
- Luisa Russo;
- Ilaria Meloni;
- Iolanda Ricci;
- Francesca Ariani;
- Chiara Pescucci;
- Carmela Tiziana Giordano;
- Roberto Canitano;
- Giuseppe Hayek;
- Michele Zappella;
- Giovanni Neri;
- Alessandra Renieri;
- Fiorella Gurrieri
Publication type:
Article
Preserved speech variant is allelic of classic Rett syndrome.
Published in:
European Journal of Human Genetics, 2000, v. 8, n. 5, p. 325, doi. 10.1038/sj.ejhg.5200473
By:
- De Bona, Cristina;
- Zappella, Michele;
- Hayek, Giuseppe;
- Meloni, Ilaria;
- Vitelli, Francesca;
- Bruttini, Mirella;
- Cusano, Roberto;
- Loffredo, Paola;
- Longo, Ilaria;
- Renieri, Alessandra
Publication type:
Article
Additional Case of Marden-Walker Syndrome: Support for the Autosomal-Recessive Inheritance and Refinement of Phenotype in a Surviving Patient.
Published in:
Journal of Child Neurology, 2001, v. 16, n. 2, p. 150, doi. 10.1177/088307380101600219
By:
- Orrico, Alfredo;
- Galli, Lucia;
- Zappella, Michele;
- Orsi, Alessandra;
- Hayek, Giuseppe
Publication type:
Article
Italian Rett database and biobank.
Published in:
2007
By:
- 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
Publication type:
Other
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.
Published in:
Human Mutation, 2004, v. 24, n. 2, p. 172, doi. 10.1002/humu.20065
By:
- Ariani, Francesca;
- Mari, Francesca;
- Pescucci, Chiara;
- Longo, Ilaria;
- Bruttini, Mirella;
- Meloni, Ilaria;
- Hayek, Giuseppe;
- Rocchi, Raffaele;
- Zappella, Michele;
- Renieri, Alessandra
Publication type:
Article
CDKL5 belongs to the same molecular pathway of MeCP2 and it is responsible for the early-onset seizure variant of Rett syndrome.
Published in:
Human Molecular Genetics, 2005, v. 14, n. 14, p. 1935, doi. 10.1093/hmg/ddi198
By:
- 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
Publication type:
Article

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