Monogenic Autoinflammatory Diseases: Concept And Clinical Manifestations

Por De Jesus, Adriana Almeida, Goldbach-Mansky, Raphaela
Publicado em 2013

Newly Recognized Mendelian Disorders with Rheumatic Manifestations

Por de Jesus, Adriana Almeida, Goldbach-Mansky, Raphaela
Publicado no Curr Opin Rheumatol (2015)

GENETICALLY DEFINED AUTOINFLAMMATORY DISEASES

Por DE JESUS, ADRIANA ALMEIDA, GOLDBACH-MANSKY, RAPHAELA
Publicado no Oral Dis (2016)

MONOGENIC AUTOINFLAMMATORY DISEASES: DISORDERS OF AMPLIFIED DANGER SENSING AND CYTOKINE DYSREGULATION

Por Montealegre Sanchez, Gina A., De Jesus, Adriana Almeida, Goldbach-Mansky, Raphaela
Publicado em 2013

Molecular Mechanisms in Genetically Defined Autoinflammatory Diseases: Disorders of Amplified Danger Signaling()

Por de Jesus, Adriana Almeida, Canna, Scott W., Liu, Yin, Goldbach-Mansky, Raphaela
Publicado no Annu Rev Immunol (2015)

A case of proteasome-associated auto-inflammatory syndrome with compound heterozygous mutations in PSMB8

Por McDermott, Amelia, de Jesus, Adriana Almeida, Liu, Yin, Kim, Peter, Jacks, Jennifer, Sanchez, Gina A Montealegre, Chen, Yongqing, Kannan, Aarthi, Schnebelen, Alicia, Emanuel, Peter D., Shalin, Sara, Hiatt, Kim, Goldbach-Mansky, Raphaela, Gao, Ling
Publicado em 2013

A de novo nonsense mutation in the tyrosine kinase lyn in a patient with an early onset autoinflammatory phenotype

Por De Jesus, Adriana Almeida, Montealegre, Gina, Liu, Yin, Marrero, Bernadette, Kuehn, Hyesun, Calvo, Katherine, Rosenzweig, Sergio, Fleisher, Thomas, Lee, Richard Chyi-Chia, Brundidge, April, Chapelle, Dawn, Huang, Yan, Brooks, Stephen, Moir, Susan, Meffre, Eric, Merchant, Melinda, Deng, Zuoming, Goldbach-Mansky, Raphaela
Publicado em 2014

An activating NLRC4 inflammasome mutation causes autoinflammation with recurrent macrophage activation syndrome

Por Canna, Scott W., de Jesus, Adriana Almeida, Gouni, Sushanth, Brooks, Stephen R., Marrero, Bernadette, Liu, Yin, DiMattia, Michael A., Zaal, Kristien J.M., Montealegre Sanchez, Gina A., Kim, Hanna, Chapelle, Dawn, Plass, Nicole, Huang, Yan, Villarino, Alejandro V., Biancotto, Angelique, Fleisher, Thomas A., Duncan, Joseph A., O’Shea, John J, Benseler, Susanne, Grom, Alexei, Deng, Zuoming, Laxer, Ronald M, Goldbach-Mansky, Raphaela
Publicado em 2014

Additive loss-of-function proteasome subunit mutations in CANDLE/PRAAS patients promote type I IFN production

Por Brehm, Anja, Liu, Yin, Sheikh, Afzal, Marrero, Bernadette, Omoyinmi, Ebun, Zhou, Qing, Montealegre, Gina, Biancotto, Angelique, Reinhardt, Adam, de Jesus, Adriana Almeida, Pelletier, Martin, Tsai, Wanxia L., Remmers, Elaine F., Kardava, Lela, Hill, Suvimol, Kim, Hanna, Lachmann, Helen J., Megarbane, Andre, Chae, Jae Jin, Brady, Jilian, Castillo, Rhina D., Brown, Diane, Casano, Angel Vera, Gao, Ling, Chapelle, Dawn, Huang, Yan, Stone, Deborah, Chen, Yongqing, Sotzny, Franziska, Lee, Chyi-Chia Richard, Kastner, Daniel L., Torrelo, Antonio, Zlotogorski, Abraham, Moir, Susan, Gadina, Massimo, McCoy, Phil, Wesley, Robert, Rother, Kristina I., Hildebrand, Peter W., Brogan, Paul, Krüger, Elke, Aksentijevich, Ivona, Goldbach-Mansky, Raphaela
Publicado no J Clin Invest (2016)

Health related quality of life measure in systemic pediatric rheumatic diseases and its translation to different languages: an international collaboration

Por Moorthy, Lakshmi Nandini, Roy, Elizabeth, Kurra, Vamsi, Peterson, Margaret GE, Hassett, Afton L, Lehman, Thomas JA, Scott, Christiaan, El-Ghoneimy, Dalia, Saad, Shereen, El Feky, Reem, Al-Mayouf, Sulaiman, Dolezalova, Pavla, Malcova, Hana, Herlin, Troels, Nielsen, Susan, Wulffraat, Nico, van Royen, Annet, Marks, Stephen D, Belot, Alexandre, Brunner, Jurgen, Huemer, Christian, Foeldvari, Ivan, Horneff, Gerd, Saurenman, Traudel, Schroeder, Silke, Pratsidou-Gertsi, Polyxeni, Trachana, Maria, Uziel, Yosef, Aggarwal, Amita, Constantin, Tamas, Cimaz, Rolando, Giani, Theresa, Cantarini, Luca, Falcini, Fernanda, Manzoni, Silvia Magni, Ravelli, Angelo, Rigante, Donato, Zulian, Fracnceso, Miyamae, Takako, Yokota, Shumpei, Sato, Juliana, Magalhaes, Claudia S, Len, Claudio A, Appenzeller, Simone, Knupp, Sheila Oliveira, Rodrigues, Marta Cristine, Sztajnbok, Flavio, de Almeida, Rozana Gasparello, de Jesus, Adriana Almeida, de Arruda Campos, Lucia Maria, Silva, Clovis, Lazar, Calin, Susic, Gordana, Avcin, Tadej, Cuttica, Ruben, Burgos-Vargas, Ruben, Faugier, Enrique, Anton, Jordi, Modesto, Consuelo, Vazquez, Liza, Barillas, Lilliana, Barinstein, Laura, Sterba, Gary, Maldonado, Irama, Ozen, Seza, Kasapcopur, Ozgur, Demirkaya, Erkan, Benseler, Susa
Publicado no Pediatr Rheumatol Online J (2014)