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    678TiP A phase I, first-in-human, dose escalation and expansion study of oral pan-RAF/MEK molecular glue NST-628 in subjects with solid tumors harboring RAS-MAPK pathway alterations
                                      
                                            Lemech, C.,                              Luke, J.J.,                              Falchook, G.S.,                              Mckean, M.,                              Kichenadasse, G.,                              Teng, C.,                              Vandross, A.L.,                              Salkeni, M.A.,                              Atkinson, V.G.,                              Liu, J.J.,                              Kennedy, A.M.,                              Clark, J.,                              Ryan, M.,                              Schmidt-Kittler, O.,                              Steinhubel, D.,                              Wages, D.,                              Komarnitsky, P.,                              Puzanov, I.                              
Published in Annals of oncology (01.09.2024)
                   
      
      
                                                  Published in Annals of oncology (01.09.2024)
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          Phenotype–genotype analysis of 242 individuals with RASopathies: 18‐year experience of a tertiary center in Brazil
                                      
                                            Bertola, Débora R.,                              Castro, Matheus A. A.,                              Yamamoto, Guilherme L.,                              Honjo, Rachel S.,                              Ceroni, José Ricardo,                              Buscarilli, Michele M.,                              Freitas, Amanda B.,                              Malaquias, Alexsandra C.,                              Pereira, Alexandre C.,                              Jorge, Alexander A. L.,                              Passos‐Bueno, Maria Rita,                              Kim, Chong A.                              
Published in American journal of medical genetics. Part C, Seminars in medical genetics (01.12.2020)
                   
      
      
                                                  Published in American journal of medical genetics. Part C, Seminars in medical genetics (01.12.2020)
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          Undiagnosed RASopathies in infertile men
                                      
                                            Juchnewitsch, Anna-Grete,                              Pomm, Kristjan,                              Dutta, Avirup,                              Tamp, Erik,                              Valkna, Anu,                              Lillepea, Kristiina,                              Mahyari, Eisa,                              Tjagur, Stanislav,                              Belova, Galina,                              Kübarsepp, Viljo,                              Castillo-Madeen, Helen,                              Riera-Escamilla, Antoni,                              Põlluaas, Lisanna,                              Nagirnaja, Liina,                              Poolamets, Olev,                              Vihljajev, Vladimir,                              Sütt, Mailis,                              Versbraegen, Nassim,                              Papadimitriou, Sofia,                              McLachlan, Robert I.,                              Jarvi, Keith A.,                              Schlegel, Peter N.,                              Tennisberg, Sven,                              Korrovits, Paul,                              Vigh-Conrad, Katinka,                              O’Bryan, Moira K.,                              Aston, Kenneth I.,                              Lenaerts, Tom,                              Conrad, Donald F.,                              Kasak, Laura,                              Punab, Margus,                              Laan, Maris                              
Published in Frontiers in endocrinology (Lausanne) (09.04.2024)
                   
      
      
                                                  Published in Frontiers in endocrinology (Lausanne) (09.04.2024)
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          Serum Markers of Bone Turnover and Bone Remodeling in Children with Noonan Syndrome: Genotype-Phenotype Correlation
                                      
                                            Chiarito, Mariangela,                              Farella, Ilaria,                              Lattanzio, Crescenza,                              Vitale, Rossella,                              Urbano, Flavia,                              Guida, Pietro,                              Piacente, Laura,                              Muggeo, Paola,                              Faienza, Maria Felicia                              
Published in Genes (30.05.2025)
                   
      
      
                                                  Published in Genes (30.05.2025)
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          Effect of lentiviral vector-mediated KSR1 gene silencing on the proliferation of renal tubular epithelial cells and expression of inflammatory factors in a rat model of ischemia/reperfusion injury
                                      
                                            Bai, Yang,                              Han, Guanghong,                              Guo, Kaimin,                              Yu, Lili,                              Du, Xiadong,                              Xu, Ying                              
Published in Acta biochimica et biophysica Sinica (01.08.2018)
                   
      
      
                                                  Published in Acta biochimica et biophysica Sinica (01.08.2018)
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          Absence of Spred1, a Negative Regulator of Ras/MAPK Pathway, as a Mechanism Responsible for the Constitutive Activation of RTK Mediated Signalling in Acute Leukemias
                                      
                                            Cilloni, Daniela,                              Bracco, Enrico,                              Defilippi, Ilaria,                              Messa, Francesca,                              Carturan, Sonia,                              Di Giovanni, Daniela,                              Arruga, Francesca,                              Rosso, Valentina,                              Catalano, Renata,                              Messa, Emanuela,                              Morotti, Alessandro,                              Serra, Anna,                              Saglio, Giuseppe                              
Published in Blood (16.11.2005)
                   
      
      
                                                  Published in Blood (16.11.2005)
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          Atrioventricular canal defect in patients with RASopathies
                                      
                                            Digilio, Maria Cristina,                              Romana Lepri, Francesca,                              Lisa Dentici, Maria,                              Henderson, Alex,                              Baban, Anwar,                              Cristina Roberti, Maria,                              Capolino, Rossella,                              Versacci, Paolo,                              Surace, Cecilia,                              Angioni, Adriano,                              Tartaglia, Marco,                              Marino, Bruno,                              Dallapiccola, Bruno                              
Published in European journal of human genetics : EJHG (01.02.2013)
                   
      
      
                                                  Published in European journal of human genetics : EJHG (01.02.2013)
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          Decreased bone mineralization in children with Noonan syndrome: Another consequence of dysregulated RAS MAPKinase pathway?
                                      
                                            Choudhry, Kiran S.,                              Grover, Monica,                              Tran, Alyssa A.,                              O'Brian Smith, E.,                              Ellis, Kenneth J.,                              Lee, Brendan H.                              
Published in Molecular genetics and metabolism (01.06.2012)
                   
      
      
                                                  Published in Molecular genetics and metabolism (01.06.2012)
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          Reverse Pathway Genetic Approach Identifies Epistasis in Autism Spectrum Disorders
                                      
                                            Mitra, Ileena,                              Lavillaureix, Alinoë,                              Yeh, Erika,                              Traglia, Michela,                              Tsang, Kathryn,                              Bearden, Carrie E.,                              Rauen, Katherine A.,                              Weiss, Lauren A.                              
Published in PLoS genetics (11.01.2017)
                   
      
      
                                                  Published in PLoS genetics (11.01.2017)
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          Trametinib for Refractory Chylous Effusions and Systemic Complications in Children with Noonan Syndrome
                                      
                                            Nakano, Taizo A.,                              Rankin, Alexander W.,                              Annam, Aparna,                              Kulungowski, Ann M.,                              McCallen, Leslie M.,                              Hill, Lauren R.,                              Chatfield, Kathryn C.                              
Published in The Journal of pediatrics (01.09.2022)
                   
      
      
                                                  Published in The Journal of pediatrics (01.09.2022)
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          Patient-derived iPSCs show premature neural differentiation and neuron type-specific phenotypes relevant to neurodevelopment
                                      
                                            Yeh, E,                              Dao, D Q,                              Wu, Z Y,                              Kandalam, S M,                              Camacho, F M,                              Tom, C,                              Zhang, W,                              Krencik, R,                              Rauen, K A,                              Ullian, E M,                              Weiss, L A                              
Published in Molecular psychiatry (01.08.2018)
                   
      
      
                                                  Published in Molecular psychiatry (01.08.2018)
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          Autism traits in the RASopathies
                                      
                                            Adviento, Brigid,                              Corbin, Iris L,                              Widjaja, Felicia,                              Desachy, Guillaume,                              Enrique, Nicole,                              Rosser, Tena,                              Risi, Susan,                              Marco, Elysa J,                              Hendren, Robert L,                              Bearden, Carrie E,                              Rauen, Katherine A,                              Weiss, Lauren A                              
Published in Journal of medical genetics (01.01.2014)
                   
      
      
                                                  Published in Journal of medical genetics (01.01.2014)
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          Phase Ib Dose Expansion and Translational Analyses of Olaparib in Combination with Capivasertib in Recurrent Endometrial, Triple-Negative Breast, and Ovarian Cancer
                                      
                                            Westin, Shannon N.,                              Labrie, Marilyne,                              Litton, Jennifer K.,                              Blucher, Aurora,                              Fang, Yong,                              Vellano, Christopher P.,                              Marszalek, Joseph R.,                              Feng, Ningping,                              Ma, XiaoYan,                              Creason, Allison,                              Fellman, Bryan,                              Yuan, Ying,                              Lee, Sanghoon,                              Kim, Tae-Beom,                              Liu, Jinsong,                              Chelariu-Raicu, Anca,                              Chen, Tsun Hsuan,                              Kabil, Nashwa,                              Soliman, Pamela T.,                              Frumovitz, Michael,                              Schmeler, Katheleen M.,                              Jazaeri, Amir,                              Lu, Karen H.,                              Murthy, Rashmi,                              Meyer, Larissa A.,                              Sun, Charlotte C.,                              Sood, Anil K.,                              Coleman, Robert L.,                              Mills, Gordon B.                              
Published in Clinical cancer research (01.12.2021)
                   
      
      
                                                  Published in Clinical cancer research (01.12.2021)
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          Somatostatinoma: Beyond neurofibromatosis type 1 (Review)
                                      
                                            Sandru, Florica,                              Carsote, Mara,                              Valea, Ana,                              Albu, Simona Elena,                              Petca, Răzvan-Cosmin,                              Dumitrascu, Mihai Cristian                              
Published in Experimental and therapeutic medicine (01.10.2020)
                   
      
      
                                                  Published in Experimental and therapeutic medicine (01.10.2020)
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          Are RASopathies new monogenic predisposing conditions to the development of systemic lupus erythematosus? Case report and systematic review of the literature
                                      
                                            Bader-Meunier, Brigitte,                              Cavé, Hélène,                              Jeremiah, Nadia,                              Magerus, Aude,                              Lanzarotti, Nina,                              Rieux-Laucat, Frédéric,                              Cormier-Daire, Valérie                              
Published in Seminars in arthritis and rheumatism (01.10.2013)
                   
      
      
                                                  Published in Seminars in arthritis and rheumatism (01.10.2013)
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          Cardio-facio-cutaneous syndrome and gastrointestinal defects: report on a newborn with 19p13.3 deletion including the MAP 2 K2 gene
                                      
                                            Serra, Gregorio,                              Felice, Sofia,                              Antona, Vincenzo,                              Di Pace, Maria Rita,                              Giuffrè, Mario,                              Piro, Ettore,                              Corsello, Giovanni                              
Published in Italian journal of pediatrics (04.05.2022)
                   
      
      
                                                  Published in Italian journal of pediatrics (04.05.2022)
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          Genetic backgrounds and genotype-phenotype relationships in anthropometric parameters of 116 Japanese individuals with Noonan syndrome
                                      
                                            Etani, Yuri,                              Ida, Shinobu,                              Okamoto, Nobuhiko,                              Hata, Ayaha,                              Wada, Tamaki,                              Nishi, Eriko,                              Niihori, Tetsuya,                              Shoji, Yasuko,                              Kawai, Masanobu,                              Maeyama, Takatoshi,                              Hasegawa, Yuiko,                              Aoki, Yoko                              
Published in Clinical Pediatric Endocrinology (2024)
                   
      
      
                                                  Published in Clinical Pediatric Endocrinology (2024)
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          Molecular Diversity and Associated Phenotypic Spectrum of Germline CBL Mutations
                                      
                                            Martinelli, Simone,                              Stellacci, Emilia,                              Pannone, Luca,                              D'Agostino, Daniela,                              Consoli, Federica,                              Lissewski, Christina,                              Silvano, Marianna,                              Cencelli, Giulia,                              Lepri, Francesca,                              Maitz, Silvia,                              Pauli, Silke,                              Rauch, Anita,                              Zampino, Giuseppe,                              Selicorni, Angelo,                              Melançon, Serge,                              Digilio, Maria C.,                              Gelb, Bruce D.,                              De Luca, Alessandro,                              Dallapiccola, Bruno,                              Zenker, Martin,                              Tartaglia, Marco                              
Published in Human mutation (01.08.2015)
                   
      
      
                                                  Published in Human mutation (01.08.2015)
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