Search Results - "KAVAMURA, Ines"

Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome by 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

“…Cardio-facio-cutaneous (CFC) syndrome is characterized by a distinctive facial appearance, heart defects and mental retardation. It phenotypically overlaps…”
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SOS1 mutations in Noonan syndrome: molecular spectrum, structural insights on pathogenic effects, and genotype-phenotype correlations by 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

“…Noonan syndrome (NS) is among the most common nonchromosomal disorders affecting development and growth. NS is caused by aberrant RAS‐MAPK signaling and is…”
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Cardio-facio-cutaneous syndrome: clinical features, diagnosis, and management guidelines by 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

“…Cardio-facio-cutaneous syndrome (CFC) is one of the RASopathies that bears many clinical features in common with the other syndromes in this group, most…”
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Dermatological manifestations, management, and care in RASopathies by Kavamura, Maria Ines, Leoni, Chiara, Neri, Giovanni

“…RASopathies are rare genetic disorders caused by germline pathogenic variants in genes belonging to the RAS/MAPK pathway, which signals cell proliferation,…”
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Multiple giant cell lesions in patients with Noonan syndrome and cardio-facio-cutaneous syndrome by 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

“…Noonan syndrome (NS) and cardio-facio-cutaneous syndrome (CFCS) are related developmental disorders caused by mutations in genes encoding various components of…”
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My memories of Professor Giovanni Neri: The cardiofaciocutaneous syndrome (CFC) by Kavamura, Maria Ines

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Distal phalangeal creases: More evidence of this feature in disorders of the Ras signaling pathway by Allanson, Judith, Kavamura, Ines, Neri, Giovanni, Noonan, Jacqueline, Poss, Alexis, Kerr, Bronwyn

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Molecular and clinical characterization of cardio-facio-cutaneous (CFC) syndrome: Overlapping clinical manifestations with Costello syndrome by 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

“…Cardio‐facio‐cutaneous (CFC) syndrome is a multiple congenital anomaly/mental retardation syndrome characterized by heart defects, a distinctive facial…”
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SOS1 MUTATIONS IN NOONAN SYNDROME: AN UPDATE ON MOLECULAR SPECTRUM, STRUCTURAL INSIGHTS ON PATHOGENIC EFFECTS, AND GENOTYPE-PHENOTYPE CORRELATIONS by 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

“…Noonan syndrome (NS) is among the most common non-chromosomal disorders affecting development and growth. NS is caused by aberrant RAS-MAPK signaling and is…”
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Distal phalangeal creases: More evidence of this feature in disorders of the Ras signaling pathway by Allanson, Judith, Kavamura, Ines, Neri, Giovanni, Noonan, Jacqueline, Poss, Alexis, Kerr, Bronwyn

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CFC syndrome by Neri, Giovanni, Kavamura, Maria Ines, Zollino, Marcella, Opitz, John M.

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PTPN11 mutations are not responsible for the Cardiofaciocutaneous (CFC) syndrome by KAVAMURA, M. I, POMPONI, M. G, ZOLLINO, M, LECCE, R, MURDOLO, M, BRUNONI, D, ALCHORNE, M. M. A, OPITZ, J. M, NERI, G

“…Cardiofaciocutaneous (CFC) syndrome is a multiple congenital anomalies/mental retardation syndrome characterized by congenital heart defects, characteristic…”
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Miliary osteoma of the face: A report of 4 cases and review of the literature by BERGONSE, Fabiane N, NICO, Marcello Menta S, KAVAMURA, Maria Ines, SOTTO, Miriam N

“…Osteoma cutis (OC) is a rare disorder characterized by compact bone formation in the dermis and subcutaneous tissue. It is classified in primary and secondary…”
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