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Expanding the molecular spectrum of pathogenic SHOC2 variants underlying Mazzanti syndrome Motta, Marialetizia; Solman, Maja; Bonnard, Adeline A.; Kuechler, Alma; Pantaleoni, Francesca; Priolo, Manuela; Chandramouli, Balasubramanian; Coppola, Simona; Pizzi, Simone; Zara, Erika; Ferilli, Marco; Kayserili, Hulya; Onesimo, Roberta; Leoni, Chiara; Brinkmann, Julia; Vial, Yoann; Kamphausen, Susanne B.; Thomas-Teinturier, Cecile; Guimier, Anne; Cordeddu, Viviana; Mazzanti, Laura; Zampino, Giuseppe; Chillemi, Giovanni; Zenker, Martin; Cave, Helene; Hertog, Jeroen; Tartaglia, Marco Share Save
The diagnostic value of cytokines for the discrimination of vertebral osteomyelitis and degenerative diseases of the spine Brinkmann, Julia; Zeissler, Eva-Carina; Scharrenberg, Jan Simon; Schenk, Julia; Majjouti, Mohamed; Oberste, Max; Yagdiran, Ayla; Scheyerer, Max J.; Jung, Norma; Siewe, Jan; Mahabir, Esther Share Save
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; Prandi, Ingrid Guarnetti; Venditti, Martina; Pantaleoni, Francesca; Radio, Francesca Clementina; Ciolfi, Andrea; Petrini, Stefania; Consoli, Federica; Vignal, Cedric; 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; Cave, Helene; Zenker, Martin; Tartaglia, Marco Share Save
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The 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 Share Save
Lorlatinib in pretreated ALK/ROS1-positive non-small cell lung cancer (NSCLC): Results from the German early access program Frost, N.; Christopoulos, P.; Kauffmann-Guerrero, D.; Stratmann, J. A.; Riedel, R.; Schaefer, M.; Alt, J.; Guetz, S.; Brinkmann, J.; Griesinger, F. Share Save
Hybrid capture-based assays in primary diagnostics of NSCLC patients: Results from the NEOlung study Jori, B.; Gautschi, O.; Kimmich, M.; Danel, S. Beaucaire; Reinmuth, N.; Garrido Lopez, P.; Cappuzzo, F.; Forster, M.; Patel, K.; Grohe, C.; Mueller, A.; Wesseler, C.; Menon, R.; Mueller, J.; Mariotti, E.; Brinkmann, J.; Heukamp, L.; Griesinger, F. Share Save
Enhanced MAPK1 Function Causes a Neurodevelopmental Disorder within the RASopathy Clinical Spectrum Motta, 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 complications Lissewski, 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 regulation Martinelli, 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 Syndrome Capri, 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
Ultrafine particles and ozone perturb norepinephrine clearance rather than centrally generated sympathetic activity in humans Heusser, Karsten; Tank, Jens; Holz, Olaf; May, Marcus; Brinkmann, Julia; Engeli, Stefan; Diedrich, Andre; Framke, Theodor; Koch, Armin; Grosshennig, Anika; Danser, A. H. Jan; Sweep, Fred C. G. J.; Schindler, Christoph; Schwarz, Katharina; Krug, Norbert; Jordan, Jens; Hohlfeld, Jens M. Share Save
Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants Johnston, Jennifer J.; van der Smagt, Jasper J.; Rosenfeld, Jill A.; Pagnamenta, Alistair T.; Alswaid, Abdulrahman; Baker, Eva H.; Blair, Edward; Borck, Guntram; Brinkmann, Julia; Craigen, William; Vu Chi Dung; Emrick, Lisa; Everman, David B.; van Gassen, Koen L.; Gulsuner, Suleyman; Harr, Margaret H.; Jain, Mahim; Kuechler, Alma; Leppig, Kathleen A.; McDonald-McGinn, Donna M.; Ngoc Thi Bich Can; Peleg, Amir; Roeder, Elizabeth R.; Rogers, R. Curtis; Sagi-Dain, Lena; Sapp, Julie C.; Schaffer, Alejandro A.; Schanze, Denny; Stewart, Helen; Taylor, Jenny C.; Verbeek, Nienke E.; Walkiewicz, Magdalena A.; Zackai, Elaine H.; Zweier, Christiane; Zenker, Martin; Lee, Brendan; Biesecker, Leslie G. Share Save
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Acute Response to Unilateral Unipolar Electrical Carotid Sinus Stimulation in Patients With Resistant Arterial Hypertension Heusser, Karsten; Tank, Jens; Brinkmann, Julia; Menne, Jan; Kaufeld, Jessica; Linnenweber-Held, Silvia; Beige, Joachim; Wilhelmi, Mathias; Diedrich, Andre; Haller, Hermann; Jordan, Jens Share Save
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