Expansion of the neurodevelopmental phenotype of individuals with EEF1A2 variants and genotype-phenotype study
Paulet, Alix, Bennett-Ness, Cavan, Ageorges, Faustine, Trost, Detlef, Green, Andrew, Goudie, David, Jewell, Rosalyn, Kraatari-Tiri, Minna, Piard, Juliette, Coubes, Christine, Lam, Wayne, Lynch, Sally Ann, Groeschel, Samuel, Ramond, Francis, Fluss, Joël, Fagerberg, Christina, Brasch Andersen, Charlotte, Varvagiannis, Konstantinos, Kleefstra, Tjitske, Gérard, Bénédicte, Fradin, Mélanie, Vitobello, Antonio, Tenconi, Romano, Denommé-Pichon, Anne-Sophie, Vincent-Devulder, Aline, Haack, Tobias, Marsh, Joseph A, Laulund, Lone Walentin, Grimmel, Mona, Riess, Angelika, de Boer, Elke, Padilla-Lopez, Sergio, Bakhtiari, Somayeh, Ostendorf, Adam, Zweier, Christiane, Smol, Thomas, Willems, Marjolaine, Faivre, Laurence, Scala, Marcello, Striano, Pasquale, Bagnasco, Irene, Koboldt, Daniel, Iascone, Maria, Suerink, Manon, Kruer, Michael C, Levy, Jonathan, Verloes, Alain, Abbott, Catherine M, Ruaud, Lyse
Published in European journal of human genetics : EJHG (15.02.2024)
Published in European journal of human genetics : EJHG (15.02.2024)
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Damaging de novo missense variants in EEF1A2 lead to a developmental and degenerative epileptic-dyskinetic encephalopathy
Carvill, Gemma L, Helbig, Katherine L, Myers, Candace T, Scala, Marcello, Huether, Robert, Lewis, Sara, Kruer, Tyler N, Guida, Brandon S, Bakhtiari, Somayeh, Sebe, Joy, Tang, Sha, Stickney, Heather, Oktay, Sehribani Ulusoy, Bhandiwad, Ashwin A, Ramsey, Keri, Narayanan, Vinodh, Feyma, Timothy, Rohena, Luis O, Accogli, Andrea, Severino, Mariasavina, Hollingsworth, Georgina, Gill, Deepak, Depienne, Christel, Nava, Caroline, Sadleir, Lynette G, Caruso, Paul A, Lin, Angela E, Jansen, Floor E, Koeleman, Bobby, Brilstra, Eva, Willemsen, Marjolein H, Kleefstra, Tjitske, Sa, Joaquim, Mathieu, Marie-Laure, Perrin, Laurine, Lesca, Gaetan, Striano, Pasquale, Casari, Giorgio, Scheffer, Ingrid E, Raible, David, Sattlegger, Evelyn, Capra, Valeria, Padilla-Lopez, Sergio, Mefford, Heather C, Kruer, Michael C
Published in Human mutation (01.07.2020)
Published in Human mutation (01.07.2020)
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Techniques for measuring regional body fat : computed tomography may be suitable for evaluation of facial lipoatrophy
PADILLA, Sergio, GALLEGO, Juan A, MASIA, Mar, GUTIERREZ, Felix
Published in AIDS (London) (14.11.2006)
Published in AIDS (London) (14.11.2006)
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Loss-of-Function Mutations in FRRS1L Lead to an Epileptic-Dyskinetic Encephalopathy
Madeo, Marianna, Stewart, Michelle, Sun, Yuyang, Sahir, Nadia, Wiethoff, Sarah, Chandrasekar, Indra, Yarrow, Anna, Rosenfeld, Jill A., Yang, Yaping, Cordeiro, Dawn, McCormick, Elizabeth M., Muraresku, Colleen C., Jepperson, Tyler N., McBeth, Lauren J., Seidahmed, Mohammed Zain, El Khashab, Heba Y., Hamad, Muddathir, Azzedine, Hamid, Clark, Karl, Corrochano, Silvia, Wells, Sara, Elting, Mariet W., Weiss, Marjan M., Burn, Sabrina, Myers, Angela, Landsverk, Megan, Crotwell, Patricia L., Waisfisz, Quinten, Wolf, Nicole I., Nolan, Patrick M., Padilla-Lopez, Sergio, Houlden, Henry, Lifton, Richard, Mane, Shrikant, Singh, Brij B., Falk, Marni J., Mercimek-Mahmutoglu, Saadet, Bilguvar, Kaya, Salih, Mustafa A., Acevedo-Arozena, Abraham, Kruer, Michael C.
Published in American journal of human genetics (02.06.2016)
Published in American journal of human genetics (02.06.2016)
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Insulin resistance in HIV-infected patients receiving long-term therapy with efavirenz, lopinavir/ritonavir and atazanavir
Bernal, Enrique, Masiá, Mar, Padilla, Sergio, Ramos, J Manuel, Martín-Hidalgo, Alberto, Gutiérrez, Félix
Published in Medicina clínica (14.07.2007)
Published in Medicina clínica (14.07.2007)
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Progression to AIDS and death and response to HAART in men and women from a multicenter hospital-based cohort
Perez-Hoyos, Santiago, Rodríguez-Arenas, M Angeles, García de la Hera, Manuela, Iribarren, José A, Moreno, Santiago, Viciana, Pompeyo, Peña, Alejandro, Gómez Sirvent, José L, Saumoy, María, Lacruz, José, Padilla, Sergio, Oteo, José A, Asencio, Román, Del Amo, Julia
Published in Journal of women's health (Larchmont, N.Y. 2002) (01.09.2007)
Published in Journal of women's health (Larchmont, N.Y. 2002) (01.09.2007)
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Geography of medical publications. An overview of HIV/AIDS research in 2003
RAMOS, José M, GUTIERREZ, Felix, PADILLA, Sergio, MASIA, Mar, MARTIN-HIDALGO, Alberto
Published in AIDS (London) (28.01.2005)
Published in AIDS (London) (28.01.2005)
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Tolerancia en la ranura de brackets .022” x .025” de tres casas comerciales usados en el Postgrado de Ortodoncia de la UNAM
Kancab Díaz, Rocío del Carmen, Ruiz Díaz, Roberto, Ruiz Botello, Gerardo, Olvera, Sergio Padilla
Published in Revista Mexicana de Ortodoncia (01.07.2014)
Published in Revista Mexicana de Ortodoncia (01.07.2014)
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Occult lymphadenopathic Kaposi's sarcoma associated with severe pulmonary hypertension: A clinical hint about the potential role of HHV-8 in HIV-related pulmonary hypertension?
Gutiérrez, Félix, Masiá, Mar, Padilla, Sergio, Ramos, José M., Bernal, Enrique, Morales, Pilar, Pozo, Francisco, Andrada, Encarnación, Martin-Hidalgo, Alberto
Published in Journal of clinical virology (01.10.2006)
Published in Journal of clinical virology (01.10.2006)
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Author Correction: Mutations disrupting neuritogenesis genes confer risk for cerebral palsy
Jin, Sheng Chih, Lewis, Sara A., Bakhtiari, Somayeh, Zeng, Xue, Sierant, Michael C., Shetty, Sheetal, Nordlie, Sandra M., Elie, Aureliane, Corbett, Mark A., Norton, Bethany Y., van Eyk, Clare L., Haider, Shozeb, Guida, Brandon S., Magee, Helen, Liu, James, Pastore, Stephen, Vincent, John B., Brunstrom-Hernandez, Janice, Papavasileiou, Antigone, Fahey, Michael C., Berry, Jesia G., Harper, Kelly, Zhou, Chongchen, Zhang, Junhui, Li, Boyang, Zhao, Hongyu, Heim, Jennifer, Webber, Dani L., Frank, Mahalia S. B., Xia, Lei, Xu, Yiran, Zhu, Dengna, Zhang, Bohao, Sheth, Amar H., Knight, James R., Castaldi, Christopher, Tikhonova, Irina R., López-Giráldez, Francesc, Keren, Boris, Whalen, Sandra, Buratti, Julien, Doummar, Diane, Cho, Megan, Retterer, Kyle, Millan, Francisca, Wang, Yangong, Waugh, Jeff L., Rodan, Lance, Cohen, Julie S., Fatemi, Ali, Lin, Angela E., Phillips, John P., Feyma, Timothy, MacLennan, Suzanna C., Vaughan, Spencer, Crompton, Kylie E., Reid, Susan M., Reddihough, Dinah S., Shang, Qing, Gao, Chao, Novak, Iona, Badawi, Nadia, Wilson, Yana A., McIntyre, Sarah J., Mane, Shrikant M., Wang, Xiaoyang, Amor, David J., Zarnescu, Daniela C., Lu, Qiongshi, Xing, Qinghe, Zhu, Changlian, Bilguvar, Kaya, Padilla-Lopez, Sergio, Lifton, Richard P., Gecz, Jozef, MacLennan, Alastair H., Kruer, Michael C.
Published in Nature genetics (01.03.2021)
Published in Nature genetics (01.03.2021)
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Experiencia del Sistema Nacional de Salud Mexicano en el desarrollo de guías de práctica clínica
Sosa-García, Jesús Ojino, Nieves-Hernández, Pedro, Puentes-Rosas, Esteban, Pineda-Pérez, Dayana, Viniegra-Osorio, Arturo, Torres-Arreola, Laura del Pilar, Valenzuela-Flores, Adriana Abigail, Barragán-Padilla, Sergio Baltazar, Díaz-González, Ruth, Chávez-Valdez, Lizbeth, Ramírez-López, Juan Carlos
Published in Cirugia y cirujanos (01.03.2016)
Published in Cirugia y cirujanos (01.03.2016)
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Clinical Outcome of HIV-Infected Patients with Sustained Virologic Response to Antiretroviral Therapy: Long-Term Follow-Up of a Multicenter Cohort
Gutierrez, Felix, Padilla, Sergio, Masia, Mar, Iribarren, Jose A, Moreno, Santiago, Viciana, Pompeyo, Munoz, Leopoldo, Sirvent, Jose LGomez, Vidal, Francesc, Lopez-Aldeguer, Jose, Blanco, Jose R, Leal, Manuel, Rodriguez-Arenas, Maria Angeles, Hoyos, Santiago Perez
Published in PloS one (01.01.2006)
Published in PloS one (01.01.2006)
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Serum concentrations of lipopolysaccharide-binding protein as a biochemical marker to differentiate microbial etiology in patients with community-acquired pneumonia
MASIA, Mar, GUTIERREZ, Félix, LLORCA, Belén, NAVARRO, Juan Carlos, MIRETE, Carlos, PADILLA, Sergio, HERNANDEZ, Ildefonso, FLORES, Emilio
Published in Clinical chemistry (Baltimore, Md.) (01.09.2004)
Published in Clinical chemistry (Baltimore, Md.) (01.09.2004)
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Clinical and epidemiological characteristics of human immunodeficiency virus infection in foreigners residing in Elche, Spain (1998-2003)
Ramos, José Manuel, Gutiérrez, Félix, Padilla, Sergio, Masiá, Mar, Escolano, Clara
Published in Enfermedades infecciosas y microbiología clínica (01.10.2005)
Published in Enfermedades infecciosas y microbiología clínica (01.10.2005)
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De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias
Lauerer, Robert J., Bahr, Jacqueline C., Souza, Ivana A., Myers, Candace T., Schwarz, Niklas, Gandini, Maria A., Keren, Boris, Mignot, Cyril, Afenjar, Alexandra, Billette de Villemeur, Thierry, Héron, Delphine, Nava, Caroline, Buratti, Julien, Fagerberg, Christina R., Soerensen, Kristina P., Kibaek, Maria, Kamsteeg, Erik-Jan, Schelhaas, H. Jurgen, Fox, Jordana, Bakhtiari, Somayeh, Jarrar, Randa, Padilla-Lopez, Sergio, Lindstrom, Kristin, Bilguvar, Kaya, Papavasileiou, Antigone, Xing, Qinghe, Boysen, Katja, Vairo, Filippo, Lanpher, Brendan C., Klee, Eric W., Tillema, Jan-Mendelt, Cousin, Margot A., Baker, Joshua, Haan, Eric, Smith, Nicholas, Davis, Erica E., Katsanis, Nicholas, Angrist, Misha, Ashley, Patricia, Bidegain, Margarita, Chambers, Eileen, Cope, Heidi, Cotten, C. Michael, Curington, Theresa, Fisher, Kimberley, French, Amanda, Gallentine, William, Hill, Kevin, Kansagra, Sujay, Katsanis, Sara, Kurtzberg, Joanne, Marcus, Jeffrey, McDonald, Marie, Mikati, Mohammed, Miller, Stephen, Murtha, Amy, Perilla, Yezmin, Pizoli, Carolyn, Ross, Sherry, Smith, Edward, Wiener, John, Corbett, Mark A., MacLennan, Alastair H., Biskup, Saskia, Rodan, Lance H., Segal, Eric, Dimmock, David, McCarrier, Julie, Botto, Lorenzo D., Filloux, Francis, Klingerman, Sherry, Neumann, Catherine, Wang, Raymond, Jacobsen, Jessie C., Snell, Russell G., Lehnert, Klaus, Anderlid, Britt-Marie, Kvarnung, Malin, Guerrini, Renzo, Lyons, Michael J., Leonhard, Jennifer, Kringlen, Gabriel, Smith, Lacey A., Rotenberg, Alexander, Poduri, Annapurna, Sanchis-Juan, Alba, Carss, Keren J., Rankin, Julia, Zeman, Adam, Raymond, F. Lucy, Blyth, Moira, Kerr, Bronwyn, Urquhart, Jill, Hughes, Imelda, Banka, Siddharth, Hedrich, Ulrike B.S., Scheffer, Ingrid E., Zamponi, Gerald W., Lerche, Holger, Mefford, Heather C.
Published in American journal of human genetics (07.03.2019)
Published in American journal of human genetics (07.03.2019)
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