Identification of Germline Non-coding Deletions in XIAP Gene Causing XIAP Deficiency Reveals a Key Promoter Sequence
Sbihi, Zineb, Tanita, Kay, Bachelet, Camille, Bole, Christine, Jabot-Hanin, Fabienne, Tores, Frederic, Le Loch, Marc, Khodr, Radi, Hoshino, Akihiro, Lenoir, Christelle, Oleastro, Matias, Villa, Mariana, Spossito, Lucia, Prieto, Emma, Danielian, Silvia, Brunet, Erika, Picard, Capucine, Taga, Takashi, Abdrabou, Shimaa Said Mohamed Ali, Isoda, Takeshi, Yamada, Masafumi, Palma, Alejandro, Kanegane, Hirokazu, Latour, Sylvain
Published in Journal of clinical immunology (01.04.2022)
Published in Journal of clinical immunology (01.04.2022)
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Journal Article
Germline hypomorphic CARD11 mutations in severe atopic disease
Ma, Chi A, Stinson, Jeffrey R, Zhang, Yuan, Abbott, Jordan K, Weinreich, Michael A, Hauk, Pia J, Reynolds, Paul R, Lyons, Jonathan J, Nelson, Celeste G, Ruffo, Elisa, Dorjbal, Batsukh, Glauzy, Salomé, Yamakawa, Natsuko, Arjunaraja, Swadhinya, Voss, Kelsey, Stoddard, Jennifer, Niemela, Julie, Zhang, Yu, Rosenzweig, Sergio D, McElwee, Joshua J, DiMaggio, Thomas, Matthews, Helen F, Jones, Nina, Stone, Kelly D, Palma, Alejandro, Oleastro, Matías, Prieto, Emma, Bernasconi, Andrea R, Dubra, Geronimo, Danielian, Silvia, Zaiat, Jonathan, Marti, Marcelo A, Kim, Brian, Cooper, Megan A, Romberg, Neil, Meffre, Eric, Gelfand, Erwin W, Snow, Andrew L, Milner, Joshua D
Published in Nature genetics (01.08.2017)
Published in Nature genetics (01.08.2017)
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Journal Article
Pulmonary Alveolar Proteinosis and Multiple Infectious Diseases in a Child with Autosomal Recessive Complete IRF8 Deficiency
Rosain, Jérémie, Bernasconi, Andrea, Prieto, Emma, Caputi, Lucia, Le Voyer, Tom, Buda, Guadalupe, Marti, Marcelo, Bohlen, Jonathan, Neehus, Anna-Lena, Castaños, Claudio, Gallagher, Rosario, Dorgham, Karim, Oleastro, Matias, Perez, Laura, Danielian, Silvia, Dipierri, Jose Edgardo, Casanova, Jean-Laurent, Bustamante, Jacinta, Villa, Mariana
Published in Journal of clinical immunology (01.07.2022)
Published in Journal of clinical immunology (01.07.2022)
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Journal Article
Cancer Prevalence in Children with Inborn Errors of Immunity: Report from a Single Institution
Mitchell, María Raquel, Urdinez, Luciano, Bernasconi, Andrea R., Danielian, Silvia, Katsikas, María Martha, Sajaroff, Elisa O., Roffé, Georgina, Villa, Nélida M., Galluzzo, Laura, Sanz, Marianela, Palma, Alejandro M., Bouso, Carolina, Prieto, Emma, Goris, Verónica, Yancoski, Judith, Rosenzweig, Sergio D., Oleastro, Matías, Rosé, Adriana, Cacciavillano, Walter, Felizzia, Guido, Guitter, Myriam, Sánchez La Rosa, Cristian, Ríos, Mailén, Zubizarreta, Pedro, Felice, María Sara, Rossi, Jorge G.
Published in Journal of clinical immunology (01.08.2024)
Published in Journal of clinical immunology (01.08.2024)
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Journal Article
CD62-L down-regulation after L18-MDP stimulation as a complementary flow cytometry functional assay for the diagnosis of XIAP deficiency
Rizzo, Agustín D, Sanz, Marianela, Roffe, Georgina, Sajaroff, Elisa O, Prado, Damian A, Prieto, Emma, Goris, Verónica, Rossi, Jorge G, Bernasconi, Andrea R
Published in Cytometry. Part B, Clinical cytometry (21.05.2024)
Published in Cytometry. Part B, Clinical cytometry (21.05.2024)
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Journal Article
Late diagnosis of WHIM sydrome
Paolini, María V, Danielian, Silvia, Prieto, Emma, Tami, María Fernanda, Oleastro, Matías M, Fernández Romero, Diego S
Published in Medicina (Buenos Aires) (2018)
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Published in Medicina (Buenos Aires) (2018)
Journal Article
Germline hypomorphic, dominant interfering CARD11 mutations drive severe atopic disease
Snow, Andrew L, Ma, Chi, Stinson, Jeffrey R, Zhang, Yuan, Abbott, Jordan K, Weinrich, Michael A, Hauk, Pia J, Reynolds, Paul R, Lyons, Jonathan J, Nelson, Celeste G, Ruffo, Elisa, Dorjbal, Batsukh, Glauzy, Salome, Stoddard, Jennifer, Niemela, Julie, Rosenzweig, Sergio D, McElwee, Joshua J, DiMaggio, Thomas, Stone, Kelly D, Palma, Alejandro, Oleastro, Matias, Prieto, Emma, Bernasconi, Andrea R, Dubra, Geronimo, Danielian, Silvia, Zaiat, Jonathan, Marti, Marcello A, Kim, Brian S, Cooper, Megan A, Romberg, Neil, Meffre, Eric, Gelfand, Erwin W, Milner, Joshua D.
Published in The Journal of immunology (1950) (01.05.2017)
Published in The Journal of immunology (1950) (01.05.2017)
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Journal Article
Erratum: Corrigendum: Germline hypomorphic CARD11 mutations in severe atopic disease
Ma, Chi A, Stinson, Jeffrey R, Zhang, Yuan, Abbott, Jordan K, Weinreich, Michael A, Hauk, Pia J, Reynolds, Paul R, Lyons, Jonathan J, Nelson, Celeste G, Ruffo, Elisa, Dorjbal, Batsukh, Glauzy, Salomé, Yamakawa, Natsuko, Arjunaraja, Swadhinya, Voss, Kelsey, Stoddard, Jennifer, Niemela, Julie, Zhang, Yu, Rosenzweig, Sergio D, McElwee, Joshua J, DiMaggio, Thomas, Matthews, Helen F, Jones, Nina, Stone, Kelly D, Palma, Alejandro, Oleastro, Matías, Prieto, Emma, Bernasconi, Andrea R, Dubra, Geronimo, Danielian, Silvia, Zaiat, Jonathan, Marti, Marcelo A, Kim, Brian, Cooper, Megan A, Romberg, Neil D, Meffre, Eric, Gelfand, Erwin W, Snow, Andrew L, Milner, Joshua D
Published in Nature genetics (01.11.2017)
Published in Nature genetics (01.11.2017)
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Journal Article
Corrigendum: Germline hypomorphic CARD11 mutations in severe atopic disease
Ma, Chi A, Stinson, Jeffrey R, Zhang, Yuan, Abbott, Jordan K, Weinreich, Michael A, Hauk, Pia J, Reynolds, Paul R, Lyons, Jonathan J, Nelson, Celeste G, Ruffo, Elisa, Dorjbal, Batsukh, Glauzy, Salomé, Yamakawa, Natsuko, Arjunaraja, Swadhinya, Voss, Kelsey, Stoddard, Jennifer, Niemela, Julie, Zhang, Yu, Rosenzweig, Sergio D, McElwee, Joshua J, DiMaggio, Thomas, Matthews, Helen F, Jones, Nina, Stone, Kelly D, Palma, Alejandro, Oleastro, Matías, Prieto, Emma, Bernasconi, Andrea R, Dubra, Geronimo, Danielian, Silvia, Zaiat, Jonathan, Marti, Marcelo A, Kim, Brian, Cooper, Megan A, Romberg, Neil D, Meffre, Eric, Gelfand, Erwin W, Snow, Andrew L, Milner, Joshua D
Published in Nature genetics (01.11.2017)
Published in Nature genetics (01.11.2017)
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Journal Article
Clinical and Molecular Analysis of 49 Patients With X-linked Agammaglobulinemia From A Single Center in Argentina
Basile, Natalia, Danielian, Silvia, Oleastro, Matias, Rosenzweig, Sergio, Prieto, Emma, Rossi, Jorge, Roy, Adriana, Zelazko, Marta
Published in Journal of clinical immunology (2009)
Published in Journal of clinical immunology (2009)
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Journal Article
Novel Syntaxin 11 Gene (STX11) Mutation in Three Argentinean Patients with Hemophagocytic Lymphohistiocytosis
Danielian, Silvia, Basile, Natalia, Rocco, Carlos, Prieto, Emma, Rossi, Jorge, Barsotti, Darío, Roche, Paul A, Bernasconi, Andrea, Oleastro, Matías, Zelazko, Marta, Braier, Jorge
Published in Journal of clinical immunology (01.03.2010)
Published in Journal of clinical immunology (01.03.2010)
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Journal Article
Síndrome de Bloch-Sulzberger: a propósito de un caso
Prieto Cuesta, Emma Divanna, Prieto Cuesta, Emilio Baddir, Prieto Cuesta, Clara Denisse, Brito Montalvo, Gianella Stefanía, León Ricaurte, Itzá Rayén, Reinoso Mendoza, Gabriel Alejandro
Published in Revista Medicina e Investigación Clínica Guayaquil (28.12.2022)
Published in Revista Medicina e Investigación Clínica Guayaquil (28.12.2022)
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Journal Article
EL POLICÍA QUE VA DE SUPERHÉROE POR LOS HOSPITALES AYUDANDO A NIÑOS CON CÁNCER: QUIÉN ES: EDUARDO RODRÍGUEZ GONZÁLEZ (MÁLAGA, 1987), CONOCIDO COMO 'EDUARDO BALBOA'. ES POLICÍA NACIONAL EN MADRID. POR QUÉ ES FAMOSO: POR RECORRER ESPAÑA DE HOSPITAL EN HOSPITAL VESTIDO DE SPIDERMAN PARA AMENIZAR LAS LARGAS ESTANCIAS DE LOS NIÑOS CON CÁNCER. POR QUÉ LO HACE: POR HABER VIVIDO DE CERCA LA ENFERMEDAD
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Newspaper Article
Cartas del Lector / Afuera con el fuero
Emma Prieto Argüelles / Atizapán, Estado de México
Published in Reforma (Mexico City, Mexico : 1993) (27.10.2009)
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Published in Reforma (Mexico City, Mexico : 1993) (27.10.2009)
Newspaper Article
Cartas a El Norte
Jaime Garza Cisneros, Garza, Eugenio, Rómulo Ruiz Jerezano, Prieto, Emma, Lorenzo Bermea García, Rodríguez, Pedro
Published in El norte (29.04.2016)
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Published in El norte (29.04.2016)
Newspaper Article
Cartas a Reforma
Olalde, María Luisa, Sánchez, Claudia E, J. Jesús Arévalo Hernández, Prieto, Emma
Published in Reforma (Mexico City, Mexico : 1993) (28.04.2016)
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Published in Reforma (Mexico City, Mexico : 1993) (28.04.2016)
Newspaper Article
El Lector Escribe / El pez por su boca
Emma Prieto / Atizapán de Zaragoza, estado de México
Published in Reforma (Mexico City, Mexico : 1993) (18.06.2009)
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Published in Reforma (Mexico City, Mexico : 1993) (18.06.2009)
Newspaper Article
El Lector Escribe / Vicente Fox, otra vez
Emma Prieto de Negrete / Atizapán de Zaragoza, Estado de México
Published in Reforma (Mexico City, Mexico : 1993) (15.02.2007)
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Published in Reforma (Mexico City, Mexico : 1993) (15.02.2007)
Newspaper Article