Not logged inThe clinical significance ofA2ML1variants in Noonan syndrome has to be reconsidered
Brinkmann, Julia; Lissewski, Christina; Pinna, Valentina; Vial, Yoann; Pantaleoni, Francesca; Lepri, Francesca; Daniele, Paola; Burnyte, Birute; Cuturilo, Goran; Fauth, Christine; Gezdirici, Alper; Kotzot, Dieter; Gulec, Elif Yilmaz; Iotova, Violeta; Schanze, Denny; Ramond, Francis; Havlovicova, Marketa; Utine, Gulen Eda; Simsek-Kiper, Pelin Ozlem; Stoyanova, Milena; Verloes, Alain; De Luca, Alessandro; Tartaglia, Marco; Cave, Helene; Zenker, Martin .png)
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SaveEnhanced MAPK1 Function Causes a Neurodevelopmental Disorder within the RASopathy Clinical SpectrumMotta, Marialetizia; Pannone, Luca; Pantaleoni, Francesca; Bocchinfuso, Gianfranco; Radio, Francesca Clementina; Cecchetti, Serena; Ciolfi, Andrea; Di Rocco, Martina; Elting, Mariet W.; Brilstra, Eva H.; Boni, Stefania; Mazzanti, Laura; Tamburrino, Federica; Walsh, Larry; Payne, Katelyn; Fernandez-Jaen, Alberto; Ganapathi, Mythily; Chung, Wendy K.; Grange, Dorothy K.; Dave-Wala, Ashita; Reshmi, Shalini C.; Bartholomew, Dennis W.; Mouhlas, Danielle; Carpentieri, Giovanna; Bruselles, Alessandro; Pizzi, Simone; Bellacchio, Emanuele; Piceci-Sparascio, Francesca; Lissewski, Christina; Brinkmann, Julia; Waclaw, Ronald R.; Waisfisz, Quinten; van Gassen, Koen; Wentzensen, Ingrid M.; Morrow, Michelle M.; Alvarez, Sara; Martinez-Garcia, Monica; De Luca, Alessandro; Memo, Luigi; Zampino, Giuseppe; Rossi, Cesare; Seri, Marco; Gelb, Bruce D.; Zenker, Martin; Dallapiccola, Bruno; Stella, Lorenzo; Prada, Carlos E.; Martinelli, Simone; Flex, Elisabetta; Tartaglia, Marco Share Save Variants of SOS2 are a rare cause of Noonan syndrome with particular predisposition for lymphatic complicationsLissewski, Christina; Chune, Valerie; Pantaleoni, Francesca; De Luca, Alessandro; Capri, Yline; Brinkmann, Julia; Lepri, Francesca; Daniele, Paola; Leenders, Erika; Mazzanti, Laura; Scarano, Emanuela; Radio, Francesca Clementina; Kutsche, Kerstin; Kuechler, Alma; Gerard, Marion; Ranguin, Kara; Legendre, Marine; Vial, Yoann; van der Burgt, Ineke; Rinne, Tuula; Andreucci, Elena; Mastromoro, Gioia; Digilio, Maria Cristina; Cave, Helene; Tartaglia, Marco; Zenker, Martin Share Save Pathogenic PTPN11 variants involving the poly-glutamine Gln255-Gln256-Gln257 stretch highlight the relevance of helix B in SHP2's functional regulationMartinelli, Simone; Pannone, Luca; Lissewski, Christina; Brinkmann, Julia; Flex, Elisabetta; Schanze, Denny; Calligari, Paolo; Anselmi, Massimiliano; Pantaleoni, Francesca; Canale, Viviana Claudia; Radio, Francesca Clementina; Ioannides, Adonis; Rahner, Nils; Schanze, Ina; Josifova, Dragana; Bocchinfuso, Gianfranco; Ryten, Mina; Stella, Lorenzo; Tartaglia, Marco; Zenker, Martin Share Save Activating Mutations of RRAS2 Are a Rare Cause of Noonan SyndromeCapri, Yline; Flex, Elisabetta; Krumbach, Oliver H. F.; Carpentieri, Giovanna; Cecchetti, Serena; Lissewski, Christina; Adariani, Soheila Rezaei; Schanze, Denny; Brinkmann, Julia; Piard, Juliette; Pantaleoni, Francesca; Lepri, Francesca R.; Goh, Elaine Suk-Ying; Chong, Karen; Stieglitz, Elliot; Meyer, Julia; Kuechler, Alma; Bramswig, Nuria C.; Sacharow, Stephanie; Strullu, Marion; Vial, Yoann; Vignal, Cedric; Kensah, George; Cuturilo, Goran; Jasemi, Neda S. Kazemein; Dvorsky, Radovan; Monaghan, Kristin G.; Vincent, Lisa M.; Cave, Helene; Verloes, Alain; Ahmadian, Mohammad R.; Tartaglia, Marco; Zenker, Martin Share Save Activating MRAS mutations cause Noonan syndrome associated with hypertrophic cardiomyopathyMotta, Marialetizia; Sagi-Dain, Lena; Krumbach, Oliver H. F.; Hahn, Andreas; Peleg, Amir; German, Alina; Lissewski, Christina; Coppola, Simona; Pantaleoni, Francesca; Kocherscheid, Luisa; Altmueller, Franziska; Schanze, Denny; Logeswaran, Thushiha; Chahrokh-Zadeh, Soheyla; Munzig, Anna; Nakhaei-Rad, Saeideh; Cave, Helene; Ahmadian, Mohammad R.; Tartaglia, Marco; Zenker, Martin Share Save Genotype and phenotype spectrum of NRAS germline variantsAltmueller, Franziska; Lissewski, Christina; Bertola, Debora; Flex, Elisabetta; Stark, Zornitza; Spranger, Stephanie; Baynam, Gareth; Buscarilli, Michelle; Dyack, Sarah; Gillis, Jane; Yntema, Helger G.; Pantaleoni, Francesca; van Loon, Rosa L. E.; MacKay, Sara; Mina, Kym; Schanze, Ina; Tan, Tiong Yang; Walsh, Maie; White, Susan M.; Niewisch, Marena R.; Garcia-Minaur, Sixto; Plaza, Diego; Ahmadian, Mohammad Reza; Cave, Helene; Tartaglia, Marco; Zenker, Martin Share Save Structural, Functional, and Clinical Characterization of a Novel PTPN11 Mutation Cluster Underlying Noonan SyndromePannone, Luca; Bocchinfuso, Gianfranco; Flex, Elisabetta; Rossi, Cesare; Baldassarre, Giuseppina; Lissewski, Christina; Pantaleoni, Francesca; Consoli, Federica; Lepri, Francesca; Magliozzi, Monia; Anselmi, Massimiliano; Delle Vigne, Silvia; Sorge, Giovanni; Karaer, Kadri; Cuturilo, Goran; Sartorio, Alessandro; Tinschert, Sigrid; Accadia, Maria; Digilio, Maria C.; Zampino, Giuseppe; De Luca, Alessandro; Cave, Helene; Zenker, Martin; Gelb, Bruce D.; Dallapiccola, Bruno; Stella, Lorenzo; Ferrero, Giovanni B.; Martinelli, Simone; Tartaglia, Marco Share Save Genotype and phenotype in patients with Noonan syndrome and a RIT1 mutationKouz, Karim; Lissewski, Christina; Spranger, Stephanie; Mitter, Diana; Riess, Angelika; Lopez-Gonzalez, Vanesa; Luettgen, Sabine; Aydin, Hatip; von Deimling, Florian; Evers, Christina; Hahn, Andreas; Hempel, Maja; Issa, Ulrike; Kahlert, Anne-Karin; Lieb, Adrian; Villavicencio-Lorini, Pablo; Juliana Ballesta-Martinez, Maria; Nampoothiri, Sheela; Ovens-Raeder, Angela; Puchmajerova, Alena; Satanovskij, Robin; Seidel, Heide; Unkelbach, Stephan; Zabel, Bernhard; Kutsche, Kerstin; Zenker, Martin Share Save Share Save Activating Mutations Affecting the Dbl Homology Domain of SOS2 Cause Noonan SyndromeCordeddu, Viviana; Yin, Jiani C.; Gunnarsson, Cecilia; Virtanen, Carl; Drunat, Severine; Lepri, Francesca; De Luca, Alessandro; Rossi, Cesare; Ciolfi, Andrea; Pugh, Trevor J.; Bruselles, Alessandro; Priest, James R.; Pennacchio, Len A.; Lu, Zhibin; Danesh, Arnavaz; Quevedo, Rene; Hamid, Alaa; Martinelli, Simone; Pantaleoni, Francesca; Gnazzo, Maria; Daniele, Paola; Lissewski, Christina; Bocchinfuso, Gianfranco; Stella, Lorenzo; Odent, Sylvie; Philip, Nicole; Faivre, Laurence; Vlckova, Marketa; Seemanova, Eva; Digilio, Cristina; Zenker, Martin; Zampino, Giuseppe; Verloes, Alain; Dallapiccola, Bruno; Roberts, Amy E.; Cave, Helene; Gelb, Bruce D.; Neel, Benjamin G.; Tartaglia, Marco Share Save Molecular Diversity and Associated Phenotypic Spectrum of Germline CBL MutationsMartinelli, 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; Melancon, Serge; Digilio, Maria C.; Gelb, Bruce D.; De Luca, Alessandro; Dallapiccola, Bruno; Zenker, Martin; Tartaglia, Marco Share Save Cancer spectrum and frequency among children with Noonan, Costello, and cardio-facio-cutaneous syndromesKratz, C. P.; Franke, L.; Peters, H.; Kohlschmidt, N.; Kazmierczak, B.; Finckh, U.; Bier, A.; Eichhorn, B.; Blank, C.; Kraus, C.; Kohlhase, J.; Pauli, S.; Wildhardt, G.; Kutsche, K.; Auber, B.; Christmann, A.; Bachmann, N.; Mitter, D.; Cremer, F. W.; Mayer, K.; Daumer-Haas, C.; Nevinny-Stickel-Hinzpeter, C.; Oeffner, F.; Schlueter, G.; Gencik, M.; Ueberlacker, B.; Lissewski, C.; Schanze, I.; Greene, M. H.; Spix, C.; Zenker, M. Share Save Share Save Health and Quality of Life in Adults with Noonan SyndromeBinder, Gerhard; Grathwol, Sabrina; von Loeper, Karoline; Blumenstock, Gunnar; Kaulitz, Renate; Freiberg, Clemens; Webel, Martin; Lissewski, Christina; Zenker, Martin; Paul, Thomas Share Save 
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