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Genotype and phenotype in patients with Noonan syndrome and a RIT1 mutation
Kouz, Karim, Lissewski, Christina, Spranger, Stephanie, Mitter, Diana, Riess, Angelika, Lopez-Gonzalez, Vanesa, Lüttgen, Sabine, Aydin, Hatip, von Deimling, Florian, Evers, Christina, Hahn, Andreas, Hempel, Maja, Issa, Ulrike, Kahlert, Anne-Karin, Lieb, Adrian, Villavicencio-Lorini, Pablo, Ballesta-Martinez, Maria Juliana, Nampoothiri, Sheela, Ovens-Raeder, Angela, Puchmajerová, Alena, Satanovskij, Robin, Seidel, Heide, Unkelbach, Stephan, Zabel, Bernhard, Kutsche, Kerstin, Zenker, Martin
Published in Genetics in medicine (01.12.2016)
Published in Genetics in medicine (01.12.2016)
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Journal Article
PTPRA Phosphatase Regulates GDNF-Dependent RET Signaling and Inhibits the RET Mutant MEN2A Oncogenic Potential
Yadav, Leena, Pietilä, Elina, Öhman, Tiina, Liu, Xiaonan, Mahato, Arun K., Sidorova, Yulia, Lehti, Kaisa, Saarma, Mart, Varjosalo, Markku
Published in iScience (21.02.2020)
Published in iScience (21.02.2020)
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Journal Article
CETSA-MS unveils novel targets engaged by rigosertib to promote anti-tumor activity and inflammatory responses
Kechagioglou, Petros, Yurugi, Hajime, Dupont, Camille, Chernobrovkin, Alexey, Romero, Rossana, Harms, Gregory, Oster, Marie, Ciesek, Sandra, Tweedell, Rebecca, Kanneganti, Thirumala-Devi, Zimmer, Stefanie, Cosenza, Stephen, Fruchtman, Steven M., Rajalingam, Krishnaraj
Published in iScience (20.06.2025)
Published in iScience (20.06.2025)
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Journal Article
SPRED2 loss-of-function causes a recessive Noonan syndrome-like phenotype
Motta, Marialetizia, Fasano, Giulia, Gredy, Sina, Brinkmann, Julia, Bonnard, Adeline Alice, Simsek-Kiper, Pelin Ozlem, Gulec, Elif Yilmaz, Essaddam, Leila, Utine, Gulen Eda, Guarnetti Prandi, Ingrid, Venditti, Martina, Pantaleoni, Francesca, Radio, Francesca Clementina, Ciolfi, Andrea, Petrini, Stefania, Consoli, Federica, Vignal, Cédric, Hepbasli, Denis, Ullrich, Melanie, de Boer, Elke, Vissers, Lisenka E.L.M., Gritli, Sami, Rossi, Cesare, De Luca, Alessandro, Ben Becher, Saayda, Gelb, Bruce D., Dallapiccola, Bruno, Lauri, Antonella, Chillemi, Giovanni, Schuh, Kai, Cavé, Hélène, Zenker, Martin, Tartaglia, Marco
Published in American journal of human genetics (04.11.2021)
Published in American journal of human genetics (04.11.2021)
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Journal Article
Delineation of dominant and recessive forms of LZTR1‐associated Noonan syndrome
Pagnamenta, Alistair T., Kaisaki, Pamela J., Bennett, Fenella, Burkitt‐Wright, Emma, Martin, Hilary C., Ferla, Matteo P., Taylor, John M., Gompertz, Lianne, Lahiri, Nayana, Tatton‐Brown, Katrina, Newbury‐Ecob, Ruth, Henderson, Alex, Joss, Shelagh, Weber, Astrid, Carmichael, Jenny, Turnpenny, Peter D., McKee, Shane, Forzano, Francesca, Ashraf, Tazeen, Bradbury, Kimberley, Shears, Deborah, Kini, Usha, de Burca, Anna, Blair, Edward, Taylor, Jenny C., Stewart, Helen
Published in Clinical genetics (01.06.2019)
Published in Clinical genetics (01.06.2019)
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Journal Article
Multiple giant cell lesions in patients with Noonan syndrome and cardio-facio-cutaneous syndrome
Neumann, Thomas E, Allanson, Judith, Kavamura, Ines, Kerr, Bronwyn, Neri, Giovanni, Noonan, Jacqueline, Cordeddu, Viviana, Gibson, Kate, Tzschach, Andreas, Krüger, Gabriele, Hoeltzenbein, Maria, Goecke, Timm O, Kehl, Hans Gerd, Albrecht, Beate, Luczak, Klaudiusz, Sasiadek, Maria M, Musante, Luciana, Laurie, Rohan, Peters, Hartmut, Tartaglia, Marco, Zenker, Martin, Kalscheuer, Vera
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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Journal Article
Compound heterozygosity for PTPN11 variants in a subject with Noonan syndrome provides insights into the mechanism of SHP2‐related disorders
Lorca, Rebeca, Pannone, Luca, Cuesta‐Llavona, Elías, Bocchinfuso, Gianfranco, Rodríguez‐Reguero, Julian, Carpentieri, Giovanna, Hernando, Inés, Flex, Elisabetta, Tartaglia, Marco, Coto, Eliecer, Gómez, Juan, Martinelli, Simone
Published in Clinical genetics (01.03.2021)
Published in Clinical genetics (01.03.2021)
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Journal Article
Loss-of-function variants in ERF are associated with a Noonan syndrome-like phenotype with or without craniosynostosis
Dentici, Maria Lisa, Niceta, Marcello, Lepri, Francesca Romana, Mancini, Cecilia, Priolo, Manuela, Bonnard, Adeline Alice, Cappelletti, Camilla, Leoni, Chiara, Ciolfi, Andrea, Pizzi, Simone, Cordeddu, Viviana, Rossi, Cesare, Ferilli, Marco, Mucciolo, Mafalda, Colona, Vito Luigi, Fauth, Christine, Bellini, Melissa, Biasucci, Giacomo, Sinibaldi, Lorenzo, Briuglia, Silvana, Gazzin, Andrea, Carli, Diana, Memo, Luigi, Trevisson, Eva, Schiavariello, Concetta, Luca, Maria, Novelli, Antonio, Michot, Caroline, Sweertvaegher, Anne, Germanaud, David, Scarano, Emanuela, De Luca, Alessandro, Zampino, Giuseppe, Zenker, Martin, Mussa, Alessandro, Dallapiccola, Bruno, Cavé, Helene, Digilio, Maria Cristina, Tartaglia, Marco
Published in European journal of human genetics : EJHG (01.08.2024)
Published in European journal of human genetics : EJHG (01.08.2024)
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Journal Article
Impact of pubertal timing on growth progression and final height in subjects affected by RASopathies
Tamburrino, Federica, Mazzanti, Laura, Gibertoni, Dino, Schiavariello, Concetta, Perri, Annamaria, Orlandini, Eleonora, Rossi, Cesare, Tartaglia, Marco, Lanari, Marcello, Scarano, Emanuela
Published in Frontiers in endocrinology (Lausanne) (2024)
Published in Frontiers in endocrinology (Lausanne) (2024)
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Journal Article
Human Engineered Cardiac Tissues Created Using Induced Pluripotent Stem Cells Reveal Functional Characteristics of BRAF-Mediated Hypertrophic Cardiomyopathy
Cashman, Timothy J., Josowitz, Rebecca, Johnson, Bryce V., Gelb, Bruce D., Costa, Kevin D.
Published in PloS one (19.01.2016)
Published in PloS one (19.01.2016)
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Journal Article
Genetic basis of hypertrophic cardiomyopathy in children
Rupp, Stefan, Felimban, Moataz, Schänzer, Anne, Schranz, Dietmar, Marschall, Christoph, Zenker, Martin, Logeswaran, Thushiha, Neuhäuser, Christoph, Thul, Josef, Jux, Christian, Hahn, Andreas
Published in Clinical research in cardiology (01.03.2019)
Published in Clinical research in cardiology (01.03.2019)
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Journal Article
Blood transcriptomic comparison of individuals with and without autism spectrum disorder: A combined‐samples mega‐analysis
Tylee, Daniel S., Hess, Jonathan L., Quinn, Thomas P., Barve, Rahul, Huang, Hailiang, Zhang‐James, Yanli, Chang, Jeffrey, Stamova, Boryana S., Sharp, Frank R., Hertz‐Picciotto, Irva, Faraone, Stephen V., Kong, Sek Won, Glatt, Stephen J.
Published in American journal of medical genetics. Part B, Neuropsychiatric genetics (01.04.2017)
Published in American journal of medical genetics. Part B, Neuropsychiatric genetics (01.04.2017)
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Journal Article
Chronic pain in Noonan Syndrome: A previously unreported but common symptom
Vegunta, Sravanthi, Cotugno, Richard, Williamson, Amber, Grebe, Theresa A.
Published in American journal of medical genetics. Part A (01.12.2015)
Published in American journal of medical genetics. Part A (01.12.2015)
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Journal Article
Distinctive epigenomic alterations in NF1-deficient cutaneous and plexiform neurofibromas drive differential MKK/p38 signaling
Grit, Jamie L., Johnson, Benjamin K., Dischinger, Patrick S., J. Essenburg, Curt, Adams, Marie, Campbell, Stacy, Pollard, Kai, Pratilas, Christine A., Triche, Tim J., Graveel, Carrie R., Steensma, Matthew R.
Published in Epigenetics & chromatin (13.01.2021)
Published in Epigenetics & chromatin (13.01.2021)
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Journal Article
Manic and Depressive Symptoms in Children Diagnosed with Noonan Syndrome
Alfieri, Paolo, Cumbo, Francesca, Serra, Giulia, Trasolini, Monia, Frattini, Camilla, Scibelli, Francesco, Licchelli, Serena, Cirillo, Flavia, Caciolo, Cristina, Casini, Maria Pia, D’Amico, Adele, Tartaglia, Marco, Digilio, Maria Cristina, Capolino, Rossella, Vicari, Stefano
Published in Brain sciences (13.02.2021)
Published in Brain sciences (13.02.2021)
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Journal Article
Syndecan-4 Phosphorylation Is a Control Point for Integrin Recycling
Morgan, Mark R., Hamidi, Hellyeh, Bass, Mark D., Warwood, Stacey, Ballestrem, Christoph, Humphries, Martin J.
Published in Developmental cell (11.03.2013)
Published in Developmental cell (11.03.2013)
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Journal Article
Abstract IA016: RNA-based precision medicine predicts sensitivity to selinexor in select pancreatic ductal adenocarcinoma patients
Garcia, Alvaro Curiel, Tomassoni, Lorenzo, Dalton, Tanner C., Decker-Farrell, Amanda R., Palermo, Carmine F., Ross, Daniel R., Sastra, Stephen A., Wasko, Urszula N., Goncalves, Isabel M., Mundi, Prabhot, Bakir, Basil S., Safyan, Rachael A., Hibshoosh, Hanina, Manji, Gulam A., Califano, Andrea
Published in Cancer research (Chicago, Ill.) (11.03.2025)
Published in Cancer research (Chicago, Ill.) (11.03.2025)
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Journal Article