Array comparative genomic hybridization in retinoma and retinoblastoma tissues
Sampieri, Katia, Amenduni, Mariangela, Papa, Filomena Tiziana, Katzaki, Eleni, Mencarelli, Maria Antonietta, Marozza, Annabella, Epistolato, Maria Carmela, Toti, Paolo, Lazzi, Stefano, Bruttini, Mirella, De Filippis, Roberta, De Francesco, Sonia, Longo, Ilaria, Meloni, Ilaria, Mari, Francesca, Acquaviva, Antonio, Hadjistilianou, Theodora, Renieri, Alessandra, Ariani, Francesca
Published in Cancer science (01.03.2009)
Published in Cancer science (01.03.2009)
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A 3 Mb deletion in 14q12 causes severe mental retardation, mild facial dysmorphisms and Rett‐like features
Papa, Filomena Tiziana, Mencarelli, Maria Antonietta, Caselli, Rossella, Katzaki, Eleni, Sampieri, Katia, Meloni, Ilaria, Ariani, Francesca, Longo, Ilaria, Maggio, Angela, Balestri, Paolo, Grosso, Salvatore, Farnetani, Maria Angela, Berardi, Rosario, Mari, Francesca, Renieri, Alessandra
Published in American journal of medical genetics. Part A (01.08.2008)
Published in American journal of medical genetics. Part A (01.08.2008)
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Journal Article
Clinical and molecular characterization of Italian patients affected by Cohen syndrome
Katzaki, Eleni, Pescucci, Chiara, Uliana, Vera, Papa, Filomena Tiziana, Ariani, Francesca, Meloni, Ilaria, Priolo, Manuela, Selicorni, Angelo, Milani, Donatella, Fischetto, Rita, Celle, Maria Elena, Grasso, Rita, Dallapiccola, Bruno, Brancati, Francesco, Bordignon, Marta, Tenconi, Romano, Federico, Antonio, Mari, Francesca, Renieri, Alessandra, Longo, Ilaria
Published in Journal of human genetics (01.12.2007)
Published in Journal of human genetics (01.12.2007)
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Journal Article
Erratum to: Clinical and molecular characterization of Italian patients affected by Cohen syndrome
Katzaki, Eleni, Pescucci, Chiara, Uliana, Vera, Papa, Filomena Tiziana, Ariani, Francesca, Meloni, Ilaria, Priolo, Manuela, Selicorni, Angelo, Milani, Donatella, Fischetto, Rita, Celle, Maria Elena, Grasso, Rita, Dallapiccola, Bruno, Brancati, Francesco, Bordignon, Marta, Tenconi, Romano, Federico, Antonio, Mari, Francesca, Renieri, Alessandra, Longo, Ilaria
Published in Journal of human genetics (01.03.2008)
Published in Journal of human genetics (01.03.2008)
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Journal Article
14q12 Microdeletion syndrome and congenital variant of Rett syndrome
Mencarelli, Maria Antonietta, Kleefstra, Tjitske, Katzaki, Eleni, Papa, Filomena Tiziana, Cohen, Monika, Pfundt, Rolph, Ariani, Francesca, Meloni, Ilaria, Mari, Francesca, Renieri, Alessandra
Published in European journal of medical genetics (01.03.2009)
Published in European journal of medical genetics (01.03.2009)
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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
Syndromic mental retardation with thrombocytopenia due to 21q22.11q22.12 deletion: Report of three patients
Katzaki, Eleni, Morin, Gilles, Pollazzon, Marzia, Papa, Filomena Tiziana, Buoni, Sabrina, Hayek, Joussef, Andrieux, Joris, Lecerf, Laure, Popovici, Cornel, Receveur, Aline, Mathieu‐Dramard, Michèle, Renieri, Alessandra, Mari, Francesca, Philip, Nicole
Published in American journal of medical genetics. Part A (01.07.2010)
Published in American journal of medical genetics. Part A (01.07.2010)
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Journal Article
Is HSD17B1 a new sex reversal gene in human?
Katzaki, Eleni, Papa, Filomena Tiziana, Mucciolo, Mafalda, Uliana, Vera, Renieri, Alessandra
Published in Molecular and cellular endocrinology (10.12.2009)
Published in Molecular and cellular endocrinology (10.12.2009)
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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
Private inherited microdeletion/microduplications: Implications in clinical practice
Mencarelli, Maria Antonietta, Katzaki, Eleni, Papa, Filomena Tiziana, Sampieri, Katia, Caselli, Rossella, Uliana, Vera, Pollazzon, Marzia, Canitano, Roberto, Mostardini, Rosa, Grosso, Salvatore, Longo, Ilaria, Ariani, Francesca, Meloni, Ilaria, Hayek, Josef, Balestri, Paolo, Mari, Francesca, Renieri, Alessandra
Published in European journal of medical genetics (01.09.2008)
Published in European journal of medical genetics (01.09.2008)
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Journal Article
3.2 Mb microdeletion in chromosome 7 bands q22.2–q22.3 associated with overgrowth and delayed bone age
Uliana, Vera, Grosso, Salvatore, Cioni, Maddalena, Ariani, Francesca, Papa, Filomena T, Tamburello, Silvia, Rossi, Elisa, Katzaki, Eleni, Mucciolo, Mafalda, Marozza, Annabella, Pollazzon, Marzia, Mencarelli, Maria Antonietta, Mari, Francesca, Balestri, Paolo, Renieri, Alessandra
Published in European journal of medical genetics (01.05.2010)
Published in European journal of medical genetics (01.05.2010)
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Journal Article
Cohen syndrome resulting from a novel large intragenic COH1 deletion segregating in an isolated Greek island population
Bugiani, Marianna, Gyftodimou, Yolanda, Tsimpouka, Paraskevi, Lamantea, Eleonora, Katzaki, Eleni, d'Adamo, Pio, Nakou, Sheena, Georgoudi, Nelli, Grigoriadou, Maria, Tsina, Efthymia, Kabolis, Nikolaos, Milani, Donatella, Pandelia, Efthimia, Kokotas, Haris, Gasparini, Paolo, Giannoulia-Karantana, Aglaia, Renieri, Alessandra, Zeviani, Massimo, Petersen, Michael B.
Published in American journal of medical genetics. Part A (01.09.2008)
Published in American journal of medical genetics. Part A (01.09.2008)
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Journal Article
14q12 Microdeletion syndrome and congenital variant of Rett syndrome: Emerging Microdeletion and Microduplication Syndromes
ANTONIETTA MENCARELLI, Maria, KLEEFSTRA, Tjitske, KATZAKI, Eleni, TIZIANA PAPA, Filomena, COHEN, Monika, PFUNDT, Rolph, ARIANI, Francesca, MELONI, Ilaria, MARI, Francesca, RENIERI, Alessandra
Published in European journal of medical genetics (2009)
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Published in European journal of medical genetics (2009)
Journal Article
Clinical and molecular characterization of Italian patients affected by Cohen syndrome
Katzaki, Eleni, Pescucci, Chiara, Uliana, Vera, Papa, Filomena Tiziana, Ariani, Francesca, Meloni, Ilaria, Priolo, Manuela, Selicorni, Angelo, Milani, Donatella, Fischetto, Rita, Celle, Maria Elena, Grasso, Rita, Dallapiccola, Bruno, Brancati, Francesco, Bordignon, Marta, Tenconi, Romano, Federico, Antonio, Mari, Francesca, Renieri, Alessandra, Longo, Ilaria
Published in Journal of human genetics (01.03.2008)
Published in Journal of human genetics (01.03.2008)
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Journal Article
Syndromic mental retardation with thrombocytopenia due to 21q22.11q22.12 deletion: Report of three patients
Katzaki, Eleni, Morin, Gilles, Pollazzon, Marzia, Papa, Filomena Tiziana, Buoni, Sabrina, Hayek, Joussef, Andrieux, Joris, Lecerf, Laure, Popovici, Cornel, Receveur, Aline, Mathieu-Dramard, Michèle, Renieri, Alessandra, Mari, Francesca, Philip, Nicole
Published in American Journal of Medical Genetics Part A (01.07.2010)
Published in American Journal of Medical Genetics Part A (01.07.2010)
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A 3 Mb deletion in 14q12 causes severe mental retardation, mild facial dysmorphisms and Rett-like features
Papa, Filomena Tiziana, Mencarelli, Maria Antonietta, Caselli, Rossella, Katzaki, Eleni, Sampieri, Katia, Meloni, Ilaria, Ariani, Francesca, Longo, Ilaria, Maggio, Angela, Balestri, Paolo, Grosso, Salvatore, Farnetani, Maria Angela, Berardi, Rosario, Mari, Francesca, Renieri, Alessandra
Published in American Journal of Medical Genetics Part A (01.08.2008)
Published in American Journal of Medical Genetics Part A (01.08.2008)
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Report