日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Somatic Uniparental Disomy of PTEN in Endothelial Cells Causes Vascular Malformations in Patients with PTEN Hamartoma Tumor Syndrome.

内皮细胞中 PTEN 的体细胞单亲二体性导致 PTEN 错构瘤肿瘤综合征患者出现血管畸形

Castillo Sandra D, Perosanz Xabier, Ressler Andrew K, Ivars Marta, Rodríguez Jairo, Rovira Carlota, Nola Emanuele M, Llena Judith, Grego-Bessa Joaquim, Roldán Mónica, Arnau Raquel, Martínez-Romero Anabel, Barber Ignasi, Bejarano Miguel, Vicente Asunción, Celis Verónica, Salvador Héctor, Mora Jaume, Marchuk Douglas A, Baselga Eulalia, Graupera Mariona

Novel Insights into the Clinical Features, Genetic Spectrum and Clonal Evolution of Patients Carrying NLRP3 Mosaicism

NLRP3嵌合体携带者的临床特征、遗传谱和克隆演化的新见解

Bonet, Nuria; Mascaro, Jose M Jr; Hurtado-Navarro, Laura; Angosto-Bazarra, Diego; Callejas-Rubio, Jose Luis; Clemente, Daniel; Souto, Alejandro; Lima, Olalla; Palmou-Fontana, Natalia; Baselga, Eulalia; Jiménez-Treviño, Santiago; Remesal, Agustin; Andreu-Barasoain, Marta; Fernandez-Dominguez, Luis; Riera-Monroig, Josep; Aparicio, Maria; Garcia-Herrero, Juan; Pesqué, David; Sanchez-Calvin, Maria Teresa; Lezana-Rosales, Jose Miguel; Correyero-Plaza, Maria; Garcia-Villalba, Julio; Bolaño, Victor; Peiro, Sara; Diaz, Mar; Vlagea, Alexandru; Lorca, Daniel; Fabregat, Virginia; Anton, Maria Carmen; Plaza, Susana; Gonzalez-Granado, Luis Ignacio; Postigo, Concepción; de Morales, Jose Maria Garcia-Ruiz; de la Fuente, Enrique Gómez; Iglesias, Estibaliz; Gomez-Roman, Javier; Vázquez-Triñanes, Caritina; Lopez-Robledillo, Juan Carlos; Ortego-Centeno, Norberto; Giménez-Arnau, Ana María; Campistol, Josep M; Laayouni, Hafid; de Landazuri, Iñaki Ortiz; Yagüe, Jordi; Gonzalez-Roca, Eva; Mensa-Vilaro, Anna; Fornas, Oscar; Ramos, Eduardo; Pelegrin, Pablo; Casals, Ferran; Arostegui, Juan I

The VASCERN-VASCA diagnostic and management pathways for kaposiform hemangioendothelioma

卡波西样血管内皮瘤的VASCERN-VASCA诊断和管理路径

Gasparella, Paolo; Haxhija, Emir Q; Andersen, Rune; Barea, Maria; Baselga, Eulalia; Serrano, Miguel Bejarano; Berger, Sigurd; Bisdorff, Annouk Anne; Boccara, Olivia; Borgards, Petra; Bom-Sucesso, Maria; Boon, Laurence M; Cimpean, Anca Maria; Diociaiuti, Andrea; Dvorakova, Veronika; Hachem, May El; Frisk, Sofia; Ghaffarpour, Nader; Holm, Annegret; Irvine, Alan D; Kaltoft, Mikkel; Kapp, Friedrich G; Koskova, Olga; Kyrklund, Kristiina; Madureira, Miguel; Palionis, Darius; Przewratil, Przemysław; Schönewolf-Greulich, Bitten; Stanciulescu, Maria-Corina; Štěrba, Jaroslav; Tolonen, Jukka; Vaisnyte, Birute; van der Vleuten, Carine; Wyrzykowski, Dariusz; Kool, Leo Schultze; Vikkula, Miikka

Erythrokeratodermia Variabilis due to a Compound Heterozygous Variants in the NIPAL4 Gene

由NIPAL4基因复合杂合变异引起的变异性红斑角化症

Sánchez-Espino, Luis Fernando; Ivars, Marta; Vicente-López, Asunción; Prat-Torres, Carolina; Armstrong-Morón, Judith; Baselga, Eulalia

Systemic Treatments in Moderate-to-Severe Atopic Dermatitis in Pediatric Patients up to 12 Years of Age: Real-World Treatment Outcomes from the PEDISTAD Registry

针对12岁以下中重度特应性皮炎患儿的系统性治疗:来自PEDISTAD注册研究的真实世界治疗结果

Paller, Amy S; Marcoux, Danielle; Ramien, Michele; Baselga, Eulalia; Carvalho, Vania Oliveira; Ardusso, Ledit R F; de Graaf, Marlies; Pasmans, Suzanne; Toledo-Bahena, Mirna; Rubin, Cory; Joyce, Joel C; Lee, Lara Wine; Gupta, Rajan; Adams, Bryan; Ardeleanu, Marius; Zhang, Annie

Assessment of gene-disease associations and recommendations for genetic testing for somatic variants in vascular anomalies by VASCERN-VASCA

VASCERN-VASCA对血管异常中体细胞变异的基因-疾病关联进行评估并提出基因检测建议

Revencu, Nicole; Eijkelenboom, Astrid; Bracquemart, Claire; Alhopuro, Pia; Armstrong, Judith; Baselga, Eulalia; Cesario, Claudia; Dentici, Maria Lisa; Eyries, Melanie; Frisk, Sofia; Karstensen, Helena Gásdal; Gene-Olaciregui, Nagore; Kivirikko, Sirpa; Lavarino, Cinzia; Mero, Inger-Lise; Michiels, Rodolphe; Pisaneschi, Elisa; Schönewolf-Greulich, Bitten; Wieland, Ilse; Zenker, Martin; Vikkula, Miikka

Correction to: Assessment of gene-disease associations and recommendations for genetic testing for somatic variants in vascular anomalies by VASCERN-VASCA

更正:VASCERN-VASCA 对血管畸形体细胞变异的基因-疾病关联评估及基因检测建议

Revencu, Nicole; Eijkelenboom, Astrid; Bracquemart, Claire; Alhopuro, Pia; Armstrong, Judith; Baselga, Eulalia; Cesario, Claudia; Dentici, Maria Lisa; Eyries, Melanie; Frisk, Sofia; Karstensen, Helena Gásdal; Gene-Olaciregui, Nagore; Kivirikko, Sirpa; Lavarino, Cinzia; Mero, Inger-Lise; Michiels, Rodolphe; Pisaneschi, Elisa; Schönewolf-Greulich, Bitten; Wieland, Ilse; Zenker, Martin; Vikkula, Miikka

Sturge-Weber Syndrome: A Review of Pathophysiology, Genetics, Clinical Features, and Current Management Approache

Sturge-Weber综合征:病理生理学、遗传学、临床特征和当前治疗方法的综述

Sánchez-Espino, Luis Fernando; Ivars, Marta; Antoñanzas, Javier; Baselga, Eulalia

The VASCERN-VASCA Working Group Diagnostic and Management Pathways for Venous Malformations

VASCERN-VASCA工作组静脉畸形诊断和管理路径

Dompmartin, Anne; Baselga, Eulalia; Boon, Laurence M; Diociaiuti, Andrea; Dvorakova, Veronika; El Hachem, May; Gasparella, Paolo; Haxhija, Emir; Ghaffarpour, Nader; Kyrklund, Kristiina; Irvine, Alan D; Kapp, Friedrich G; Rößler, Jochen; Salminen, Päivi; van den Bosch, Caroline; van der Vleuten, Carine; Schultze Kool, Leo; Vikkula, Miikka

Dupilumab Provides Rapid and Sustained Improvement in SCORing Atopic Dermatitis Outcomes in Paediatric Patients with Atopic Dermatitis

Dupilumab 可快速且持续地改善儿童特应性皮炎患者的 SCORG 评分。

Wollenberg, Andreas; Marcoux, Danielle; Silverberg, Jonathan I; Aoki, Valeria; Baselga, Eulalia; Zhang, Haixin; Levit, Noah A; Taieb, Alain; Rossi, Ana B