Hemostatic abnormalities in Noonan syndrome
Artoni, Andrea, Selicorni, Angelo, Passamonti, Serena M, Lecchi, Anna, Bucciarelli, Paolo, Cerutti, Marta, Cianci, Paola, Gianniello, Francesca, Martinelli, Ida
Published in Pediatrics (Evanston) (01.05.2014)
Published in Pediatrics (Evanston) (01.05.2014)
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Journal Article
Celiac disease prevalence and predisposing‐HLA in a cohort of 93 Williams‐Beuren syndrome patients
Ghisleni, Cecilia, Parma, Barbara, Cianci, Paola, De Paoli, Anita, Pangallo, Elisabetta, Agovino, Teresa, Cereda, Anna, Bedeschi, Maria Francesca, Villa, Roberta, Fossati, Chiara, Modena, Piergiorgio, Giudici, Carolina, Morando, Carla, Memo, Luigi, Onesimo, Roberta, Zampino, Giuseppe, Salvatore, Silvia, Agosti, Massimo, Selicorni, Angelo
Published in American journal of medical genetics. Part A (01.01.2023)
Published in American journal of medical genetics. Part A (01.01.2023)
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Journal Article
SMC1A epilepsy syndrome: clinical data from a large international cohort
Gibellato, Elisabetta, Cianci, Paola, Mariani, Milena, Parma, Barbara, Huisman, Sylvia, Śmigiel, Robert, Bisgaard, Anne‐Marie, Massa, Valentina, Gervasini, Cristina, Moretti, Alex, Cattoni, Alessandro, Biondi, Andrea, Selicorni, Angelo
Published in American journal of medical genetics. Part A (01.07.2024)
Published in American journal of medical genetics. Part A (01.07.2024)
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Journal Article
Burden of care in families of patients with rare genetic diseases: analysis of a large Italian cohort
Moretti, Alex, Cianci, Paola, De Paoli, Anita, Meroni, Francesca, Tajè, Silvia, Mariani, Milena, Selicorni, Angelo
Published in European journal of medical genetics (01.07.2021)
Published in European journal of medical genetics (01.07.2021)
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Journal Article
De novo Xq21.31-q21.32 duplication in intellectual disability: a new report
Cianci, Paola, Agosti, Massimo, Modena, Piergiorgio, Selicorni, Angelo
Published in Clinical dysmorphology (01.04.2019)
Published in Clinical dysmorphology (01.04.2019)
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Journal Article
Pulmonary function in Williams–Beuren syndrome: Spirometric data of 22 Italian patients
Pangallo, Elisabetta, Cianci, Paola, Favuzza, Filippo, Milani, Donatella, Vimercati, Chiara, Moretti, Alex, Picchi, Raffaella, De Paoli, Anita, Agosti, Massimo, Selicorni, Angelo
Published in American journal of medical genetics. Part A (01.02.2021)
Published in American journal of medical genetics. Part A (01.02.2021)
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Journal Article
Dual genetic diagnoses: neurofibromatosis type 1 and KBG syndrome
Cianci, Paola, Pezzoli, Laura, Maitz, Silvia, Agosti, Massimo, Iascone, Maria, Selicorni, Angelo
Published in Clinical dysmorphology (01.04.2020)
Published in Clinical dysmorphology (01.04.2020)
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Journal Article
Activating mutations in RRAS underlie a phenotype within the RASopathy spectrum and contribute to leukaemogenesis
Flex, Elisabetta, Jaiswal, Mamta, Pantaleoni, Francesca, Martinelli, Simone, Strullu, Marion, Fansa, Eyad K, Caye, Aurélie, De Luca, Alessandro, Lepri, Francesca, Dvorsky, Radovan, Pannone, Luca, Paolacci, Stefano, Zhang, Si-Cai, Fodale, Valentina, Bocchinfuso, Gianfranco, Rossi, Cesare, Burkitt-Wright, Emma M M, Farrotti, Andrea, Stellacci, Emilia, Cecchetti, Serena, Ferese, Rosangela, Bottero, Lisabianca, Castro, Silvana, Fenneteau, Odile, Brethon, Benoît, Sanchez, Massimo, Roberts, Amy E, Yntema, Helger G, Van Der Burgt, Ineke, Cianci, Paola, Bondeson, Marie-Louise, Cristina Digilio, Maria, Zampino, Giuseppe, Kerr, Bronwyn, Aoki, Yoko, Loh, Mignon L, Palleschi, Antonio, Di Schiavi, Elia, Carè, Alessandra, Selicorni, Angelo, Dallapiccola, Bruno, Cirstea, Ion C, Stella, Lorenzo, Zenker, Martin, Gelb, Bruce D, Cavé, Hélène, Ahmadian, Mohammad R, Tartaglia, Marco
Published in Human molecular genetics (15.08.2014)
Published in Human molecular genetics (15.08.2014)
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Journal Article
Nissen fundoplication in Cornelia de Lange syndrome spectrum: Who are the potential candidates?
Parma, Barbara, Cianci, Paola, Mariani, Milena, Cereda, Anna, Panceri, Roberto, Fossati, Chiara, Maestri, Luciano, Macchini, Francesco, Onesimo, Roberta, Zampino, Giuseppe, Betalli, Pietro, Cheli, Maurizio, Selicorni, Angelo
Published in American journal of medical genetics. Part A (01.07.2020)
Published in American journal of medical genetics. Part A (01.07.2020)
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Journal Article
Williams-Beuren Syndrome and celiac disease: A real association?
Pangallo, Elisabetta, Parma, Barbara, Mariani, Milena, Cianci, Paola, De Paoli, Anita, Maitz, Silvia, Fossati, Chiara, Panceri, Roberto, Agosti, Massimo, Selicorni, Angelo
Published in European journal of medical genetics (01.09.2020)
Published in European journal of medical genetics (01.09.2020)
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Journal Article
Complex nutritional deficiencies in a large cohort of Italian patients with Cornelia de Lange syndrome spectrum
Parma, Barbara, Cianci, Paola, Decimi, Valentina, Mariani, Milena, Provero, Maria Cristina, Funari, Caterina, Tajè, Silvia, Apuril, Erika, Cereda, Anna, Panceri, Roberto, Maitz, Silvia, Fossati, Chiara, Selicorni, Angelo
Published in American journal of medical genetics. Part A (01.09.2020)
Published in American journal of medical genetics. Part A (01.09.2020)
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Journal Article
Anthropometric characteristics of newborns with Prader–Willi syndrome
Salvatoni, Alessandro, Moretti, Alex, Grugni, Graziano, Agosti, Massimo, Azzolini, Sara, Bonaita, Valentina, Cianci, Paola, Corica, Domenico, Crinò, Antonino, Delvecchio, Maurizio, Ferraris, Silvio, Greggio, Nella A., Iughetti, Lorenzo, Licenziati, Maria R., Madeo, Simona F., Nosetti, Luana, Pajno, Roberta, Rutigliano, Irene, Sacco, Michele, Salvatore, Silvia, Scarano, Emanuela, Trifirò, Giuliana, Wasniewska, Malgorzata
Published in American journal of medical genetics. Part A (01.10.2019)
Published in American journal of medical genetics. Part A (01.10.2019)
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Journal Article
Diagnosis and management of urinary tract infections in children aged 2 months to 3 years in the Italian emergency units: the ItaUTI study
Cenzato, Francesca, Milani, Gregorio P., Amigoni, Angela, Sperotto, Francesca, Bianchetti, Mario G., Agostoni, Carlo, Montini, Giovanni
Published in European journal of pediatrics (01.07.2022)
Published in European journal of pediatrics (01.07.2022)
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Journal Article
Pediatric GIST presenting as anemia
Cianci, Paola, Luini, Chiara, Marinoni, Maddalena, Nespoli, Luigi, Salvatoni, Alessandro, Salvatore, Silvia
Published in Pediatric hematology and oncology (01.08.2017)
Published in Pediatric hematology and oncology (01.08.2017)
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Journal Article
Correction: Diagnosis and management of urinary tract infections in children aged 2 months to 3 years in the Italian emergency units: the ItaUTI study
Cenzato, Francesca, Milani, Gregorio P., Amigoni, Angela, Sperotto, Francesca, Bianchetti, Mario G., Agostoni, Carlo, Montini, Giovanni
Published in European journal of pediatrics (01.07.2022)
Published in European journal of pediatrics (01.07.2022)
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Journal Article
Subcutaneous immunoglobulin in infantile chronic inflammatory demyelinating polyneuropathy: A case report
Cianci, Paola, Salvatore, Silvia, Moretti, Alex, Berardinelli, Angela, Salvatoni, Alessandro, Marinoni, Maddalena, Agosti, Massimo
Published in Journal of pediatric neurosciences (01.01.2019)
Published in Journal of pediatric neurosciences (01.01.2019)
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Journal Article
Two cases of hepatic adenomas in patients with wolf-hirschhorn syndrome: A new rare complication?
Prunotto, Giulia, Cianci, Paola, Cereda, Anna, Scatigno, Agnese, Fossati, Chiara, Maitz, Silvia, Biondi, Andrea, Selicorni, Angelo
Published in American journal of medical genetics. Part A (01.07.2013)
Published in American journal of medical genetics. Part A (01.07.2013)
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Journal Article