Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome
Heron, Delphine, Okamoto, Nobuhiko, Hennekam, Raoul C M, Ohashi, Hirofumi, Wilson, Louise, Kurosawa, Kenji, Baumann, Clarisse, Wieczorek, Dagmar, Kavamura, Maria Ines, Matsubara, Yoichi, Gillessen-Kaesbach, Gabriele, Kaname, Tadashi, Naritomi, Kenji, Kato, Kumi, Narumi, Yoko, Neri, Giovanni, Corona, Giuseppina, Aoki, Yoko, Niihori, Tetsuya, Cavé, Hélène, Verloes, Alain, Matsumoto, Naomichi, Kure, Shigeo, Bonneau, Dominique
Published in Nature genetics (01.03.2006)
Published in Nature genetics (01.03.2006)
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SOS1 mutations in Noonan syndrome: molecular spectrum, structural insights on pathogenic effects, and genotype-phenotype correlations
Lepri, Francesca, De Luca, Alessandro, Stella, Lorenzo, Rossi, Cesare, Baldassarre, Giuseppina, Pantaleoni, Francesca, Cordeddu, Viviana, Williams, Bradley J., Dentici, Maria L., Caputo, Viviana, Venanzi, Serenella, Bonaguro, Michela, Kavamura, Ines, Faienza, Maria F., Pilotta, Alba, Stanzial, Franco, Faravelli, Francesca, Gabrielli, Orazio, Marino, Bruno, Neri, Giovanni, Silengo, Margherita Cirillo, Ferrero, Giovanni B., Torrrente, Isabella, Selicorni, Angelo, Mazzanti, Laura, Digilio, Maria C., Zampino, Giuseppe, Dallapiccola, Bruno, Gelb, Bruce D., Tartaglia, Marco
Published in Human mutation (01.07.2011)
Published in Human mutation (01.07.2011)
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Cardio-facio-cutaneous syndrome: clinical features, diagnosis, and management guidelines
Pierpont, Mary Ella M, Magoulas, Pilar L, Adi, Saleh, Kavamura, Maria Ines, Neri, Giovanni, Noonan, Jacqueline, Pierpont, Elizabeth I, Reinker, Kent, Roberts, Amy E, Shankar, Suma, Sullivan, Joseph, Wolford, Melinda, Conger, Brenda, Santa Cruz, Molly, Rauen, Katherine A
Published in Pediatrics (Evanston) (01.10.2014)
Published in Pediatrics (Evanston) (01.10.2014)
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Multiple giant cell lesions in patients with Noonan syndrome and cardio-facio-cutaneous syndrome
NEUMANN, Thomas E, ALLANSON, Judith, HOELTZENBEIN, Maria, GOECKE, Timm O, GERD KEHL, Hans, ALBRECHT, Beate, LUCZAK, Klaudiusz, SASIADEK, Maria M, MUSANTE, Luciana, LAURIE, Rohan, PETERS, Hartmut, TARTAGLIA, Marco, KAVAMURA, Ines, ZENKER, Martin, KALSCHEUER, Vera, KERR, Bronwyn, NERI, Giovanni, NOONAN, Jacqueline, CORDEDDU, Viviana, GIBSON, Kate, TZSCHACH, Andreas, KRÜGER, Gabriele
Published in European journal of human genetics : EJHG (01.04.2009)
Published in European journal of human genetics : EJHG (01.04.2009)
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Molecular and clinical characterization of cardio-facio-cutaneous (CFC) syndrome: Overlapping clinical manifestations with Costello syndrome
Narumi, Yoko, Aoki, Yoko, Niihori, Tetsuya, Neri, Giovanni, Cavé, Hélène, Verloes, Alain, Nava, Caroline, Kavamura, Maria Ines, Okamoto, Nobuhiko, Kurosawa, Kenji, Hennekam, Raoul C.M., Wilson, Louise C., Gillessen-Kaesbach, Gabriele, Wieczorek, Dagmar, Lapunzina, Pablo, Ohashi, Hirofumi, Makita, Yoshio, Kondo, Ikuko, Tsuchiya, Shigeru, Ito, Etsuro, Sameshima, Kiyoko, Kato, Kumi, Kure, Shigeo, Matsubara, Yoichi
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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SOS1 MUTATIONS IN NOONAN SYNDROME: AN UPDATE ON MOLECULAR SPECTRUM, STRUCTURAL INSIGHTS ON PATHOGENIC EFFECTS, AND GENOTYPE-PHENOTYPE CORRELATIONS
Lepri, Francesca, de Luca, Alessandro, Stella, Lorenzo, Rossi, Cesare, Baldassarre, Giuseppina, Pantaleoni, Francesca, Cordeddu, Viviana, Williams, Bradley J, Dentici, Maria L, Caputo, Viviana, Venanzi, Serenella, Bonaguro, Michela, Kavamura, Maria Ines, Faienza, Maria F, Pilotta, Alba, Stanzial, Franco, Faravelli, Francesca, Gabrielli, Orazio, Marino, Bruno, Neri, Giovanni, Silengo, Margherita, Ferrero, Giovanni B, Torrente, Isabella, Selicorni, Angelo, Mazzanti, Laura, Digilio, Maria Cristina, Zampino, Giuseppe, Dallapiccola, Bruno, Gelb, Bruce D., Tartaglia, Marco
Published in Human mutation (28.04.2011)
Published in Human mutation (28.04.2011)
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CFC syndrome
Neri, Giovanni, Kavamura, Maria Ines, Zollino, Marcella, Opitz, John M.
Published in American journal of medical genetics. Part A (01.02.2003)
Published in American journal of medical genetics. Part A (01.02.2003)
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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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Miliary osteoma of the face: A report of 4 cases and review of the literature
BERGONSE, Fabiane N, NICO, Marcello Menta S, KAVAMURA, Maria Ines, SOTTO, Miriam N
Published in Cutis (New York, N.Y.) (01.05.2002)
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Published in Cutis (New York, N.Y.) (01.05.2002)
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