未登录.png)
分享.png)
收藏EndoCompass Project: Research Roadmap for Growth DisordersEndoCompass项目：生长障碍研究路线图
Gevers, Evelien F.; Hokken-Koelega, Anita C.; Tauber, Maithe; Binder, Gerhard; Bochukova, Elena G.; Bouret, Sebastien G.; Caixas, Assumpta; Davies, Justin H.; Dauber, Andrew; Edouard, Thomas; Eggermann, Thomas; Giabicani, Eloise; Netchine, Irene; Nilsson, Ola; Saravinovska, Kristina; van der Steen, Manouk; Tartaglia, Marco; Tatton-Brown, Katrina; Temple, I. Karen; Yart, Armelle; Zenker, Martin 分享 收藏 EndoCompass project: research roadmap for growth disordersEndoCompass项目：生长障碍的研究路线图Gevers, Evelien F.; Hokken-Koelega, Anita C.; Tauber, Maithe; Binder, Gerhard; Bochukova, Elena G.; Bouret, Sebastien G.; Caixas, Assumpta; Davies, Justin H.; Dauber, Andrew; Edouard, Thomas; Eggermann, Thomas; Giabicani, Eloise; Netchine, Irene; Nilsson, Ola; Saravinovska, Kristina; van der Steen, Manouk; Tartaglia, Marco; Tatton-Brown, Katrina; Temple, I. Karen; Yart, Armelle; Zenker, Martin 分享 收藏 分享 收藏 Heterozygosity for loss-of-function variants in LZTR1 is associated with isolated multiple cafe-au-lait maculesLZTR1中功能缺失变体的杂合性与孤立的多个cafe-au-lait斑疹相关Mastromoro, Gioia; Santoro, Claudia; Motta, Marialetizia; Sorrentino, Ugo; Daniele, Paola; Peduto, Cristina; Petrizzelli, Francesco; Tripodi, Martina; Pinna, Valentina; Zanobio, Mariateresa; Rotundo, Giovannina; Bellacchio, Emanuele; Lepri, Francesca; Farina, Antonella; D'Asdia, Maria Cecilia; Piceci-Sparascio, Francesca; Biagini, Tommaso; Petracca, Antonio; Castori, Marco; Melis, Daniela; Accadia, Maria; Traficante, Giovanna; Tarani, Luigi; Fontana, Paolo; Sirchia, Fabio; Paparella, Roberto; Curro, Aurora; Benedicenti, Francesco; Scala, Iris; Dentici, Maria Lisa; Leoni, Chiara; Trevisan, Valentina; Cecconi, Antonella; Giustini, Sandra; Pizzuti, Antonio; Salviati, Leonardo; Novelli, Antonio; Zampino, Giuseppe; Zenker, Martin; Genuardi, Maurizio; Digilio, Maria Cristina; Papi, Laura; Perrotta, Silverio; Nigro, Vincenzo; Castellanos, Elisabeth; Mazza, Tommaso; Trevisson, Eva; Tartaglia, Marco; Piluso, Giulio; De Luca, Alessandro 分享 收藏 Assessment of gene-disease associations and recommendations for genetic testing for somatic variants in vascular anomalies by VASCERN-VASCA (vol 19, 213, 2024)Revencu, Nicole; Eijkelenboom, Astrid; Bracquemart, Claire; Alhopuro, Pia; Armstrong, Judith; Baselga, Eulalia; Cesario, Claudia; Dentici, Maria Lisa; Eyries, Melanie; Frisk, Sofia; Karstensen, Helena Gasdal; Gene-Olaciregui, Nagore; Kivirikko, Sirpa; Lavarino, Cinzia; Mero, Inger-Lise; Michiels, Rodolphe; Pisaneschi, Elisa; Schoenewolf-Greulich, Bitten; Wieland, Ilse; Zenker, Martin; Vikkula, Miikka 分享 收藏 Myhre syndrome in adulthood: clinical variability and emerging genotype-phenotype correlations ( vol 32, pg 1086, 2024)Vanbelleghem, Eva; Van Damme, Tim; Beyens, Aude; Symoens, Sofie; Claes, Kathleen; De Backer, Julie; Meerschaut, Ilse; Vanommeslaeghe, Floris; Delanghe, Sigurd E.; van den Ende, Jenneke; Beyltjens, Tessi; Scimone, Eleanor R.; Lindsay, Mark E.; Schimmenti, Lisa A.; Hinze, Alicia M.; Dunn, Emily; Gomez-Ospina, Natalia; Vandernoot, Isabelle; Delguste, Thomas; Coppens, Sandra; Cormier-Daire, Valerie; Tartaglia, Marco; Garavelli, Livia; Shieh, Joseph; Demir, Senol; Arslan Ates, Esra; Zenker, Martin; Rohanizadegan, Mersedeh; Rivera-Cruz, Greysha; Douzgou, Sofia; Smith, Justin; Simkins, Jessica; Clark, Don; Karatsinides, Stephanie; Taylor, Sandy; White, Ines; Schultz, Patti; Wears, Kate; Holder, Levi; Young, Kathy; Lin, Angela E.; Callewaert, Bert 分享 收藏 Myhre syndrome in adulthood: clinical variability and emerging genotype-phenotype correlationsVanbelleghem, Eva; Van Damme, Tim; Beyens, Aude; Symoens, Sofie; Claes, Kathleen; De Backer, Julie; Meerschaut, Ilse; Vanommeslaeghe, Floris; Delanghe, Sigurd E.; van den Ende, Jenneke; Beyltjens, Tessi; Scimone, Eleanor R.; Lindsay, Mark E.; Schimmenti, Lisa A.; Hinze, Alicia M.; Dunn, Emily; Gomez-Ospina, Natalia; Vandernoot, Isabelle; Delguste, Thomas; Coppens, Sandra; Cormier-Daire, Valerie; Tartaglia, Marco; Garavelli, Livia; Shieh, Joseph; Demir, Senol; Ates, Esra Arslan; Zenker, Martin; Rohanizadegan, Mersedeh; Rivera-Cruz, Greysha; Douzgou, Sofia; Smith, Justin; Simkins, Jessica; Clark, Don; Karatsinides, Stephanie; Taylor, Sandy; White, Ines; Schultz, Patti; Wears, Kate; Holder, Levi; Young, Kathy; Lin, Angela E.; Callewaert, Bert 分享 收藏 Somatic RIT1 delins in arteriovenous malformations hyperactivate RAS-MAPK signaling amenable to MEK inhibitionKapp, Friedrich G.; Bazgir, Farhad; Mahammadzade, Nagi; Mehrabipour, Mehrnaz; Vassella, Erik; Bernhard, Sarah M.; Doering, Yvonne; Holm, Annegret; Karow, Axel; Seebauer, Caroline; da Silva, Natascha Platz Batista; Wohlgemuth, Walter A.; Oppenheimer, Aviv; Kroening, Pia; Niemeyer, Charlotte M.; Schanze, Denny; Zenker, Martin; Eng, Whitney; Ahmadian, Mohammad R.; Baumgartner, Iris; Roessler, Jochen 分享 收藏 Prediction of anastomotic insufficiency based on the mucosal microbiome prior to colorectal surgery: a proof-of-principle studyLehr, Konrad; Lange, Undine Gabriele; Hipler, Noam Mathias; Vilchez-Vargas, Ramiro; Hoffmeister, Albrecht; Feisthammel, Juergen; Buchloh, Dorina; Schanze, Denny; Zenker, Martin; Gockel, Ines; Link, Alexander; Jansen-Winkeln, Boris 分享 收藏 分享 收藏 分享 收藏 Loss-of-function variants in ERF are associated with a Noonan syndrome-like phenotype with or without craniosynostosisDentici, 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; Cave, Helene; Digilio, Maria Cristina; Tartaglia, Marco 分享 收藏 Assessment of gene-disease associations and recommendations for genetic testing for somatic variants in vascular anomalies by VASCERN-VASCARevencu, Nicole; Eijkelenboom, Astrid; Bracquemart, Claire; Alhopuro, Pia; Armstrong, Judith; Baselga, Eulalia; Cesario, Claudia; Dentici, Maria Lisa; Eyries, Melanie; Frisk, Sofia; Karstensen, Helena Gasdal; Gene-Olaciregui, Nagore; Kivirikko, Sirpa; Lavarino, Cinzia; Mero, Inger-Lise; Michiels, Rodolphe; Pisaneschi, Elisa; Schoenewolf-Greulich, Bitten; Wieland, Ilse; Zenker, Martin; Vikkula, Miikka 分享 收藏 RAS-MAPK Pathway Mutations in Congenital Pulmonary Airway MalformationsWindrich, Jonas; Braubach, Peter; Laeger, Florian; Dingemann, Jens; Schwerk, Nicolaus; Wetzke, Martin; Renz, Diane M.; Zenker, Martin; Schanze, Denny; Kratz, Christian P. 分享 收藏 Extracranial Vascular Anomalies Driven by RAS/MAPK Variants: Spectrum and Genotype-Phenotype CorrelationsSchmidt, Vanessa F.; Kapp, Friedrich G.; Goldann, Constantin; Huthmann, Linda; Cucuruz, Beatrix; Brill, Richard; Vielsmeier, Veronika; Seebauer, Caroline T.; Michel, Armin-Johannes; Seidensticker, Max; Uller, Wibke; Weiss, Jakob B. W.; Sint, Alena; Haeberle, Beate; Haehl, Julia; Wagner, Alexandra; Cordes, Johanna; Holm, Annegret; Schanze, Denny; Ricke, Jens; Kimm, Melanie A.; Wohlgemuth, Walter A.; Zenker, Martin; Wildgruber, Moritz 分享 收藏 分享 收藏 Sudden cardiac death in childhood RASopathy-associated hypertrophic cardiomyopathy: Validation of the HCM risk-kids model and predictors of events儿童RASopathy相关肥厚型心肌病的心脏性猝死: HCM风险-儿童模型和事件预测因子的验证Boleti, Olga D.; Roussos, Sotirios; Norrish, Gabrielle; Field, Ella; Oates, Stephanie; Tollit, Jennifer; Nepali, Gauri; Bhole, Vinay; Uzun, Orhan; Daubeney, Piers E. F.; Stuart, Graham A.; Fernandes, Precylia; McLeod, Karen; Ilina, Maria; Liaqath, Muhammad Najih Ali; Bharucha, Tara; Delle Donne, Grazia; Brown, Elspeth; Linter, Katie; Khodaghalian, Bernadette; Jones, Caroline; Searle, Jonathan; Mathur, Sujeev; Boyd, Nicola; Reindhardt, Zdenka; Duignan, Sophie; Prendiville, Terence; Adwani, Satish; Zenker, Martin; Wolf, Cordula Maria; Kaski, Juan Pablo 分享 收藏 Bifidobacteria shape antimicrobial T-helper cell responses during infancy and adulthoodVogel, Katrin; Arra, Aditya; Lingel, Holger; Bretschneider, Dirk; Praetsch, Florian; Schanze, Denny; Zenker, Martin; Balk, Silke; Bruder, Dunja; Geffers, Robert; Hachenberg, Thomas; Arens, Christoph; Brunner-Weinzierl, Monika C. 分享 收藏 Strain- induced Cardiac Arrhythmias Caused By A Noonan Syndrome Mutation In Raf1 Can Be Suppressed By Modulation Of The Rasmapk Pathway In VitroHaghighi, Fereshteh; Boehmker, Leonie; Liutkute, Aiste; Kleemann, Karolin; Busley, Alexandra V.; Pietras, Jan P.; Fakaude, Funsho E.; Seibertz, Fitzwilliam; Rubio, Tony; Kutschka, Ingo; Zenker, Martin; Voigt, Niels; Cyganek, Lukas; Kensah, George 分享 收藏 
.png){kind=icon}
.png){kind=icon}
.png){kind=icon}
.png){kind=icon}
