Not logged in DNA-binding affinity and specificity determine the phenotypic diversity in BCL11B-related disorders Lessel, Ivana; Baresic, Anja; Chinn, Ivan K.; May, Jonathan; Goenka, Anu; Chandler, Kate E.; Posey, Jennifer E.; Afenjar, Alexandra; Averdunk, Luisa; Bedeschi, Maria Francesca; Besnard, Thomas; Brager, Rae; Brick, Lauren; Brugger, Melanie; Brunet, Theresa; Byrne, Susan; de la Calle-Martin, Oscar; Capra, Valeria; Cardenas, Paul; Chappe, Celine; Chong, Hey J.; Cogne, Benjamin; Conboy, Erin; Cope, Heidi; Courtin, Thomas; Deb, Wallid; Dilena, Robertino; Dubourg, Christele; Elgizouli, Magdeldin; Fernandes, Erica; Fitzgerald, Kristi K.; Gangi, Silvana; George-Abraham, Jaya K.; Gucsavas-Calikoglu, Muge; Haack, Tobias B.; Hadonou, Medard; Hanker, Britta; Huning, Irina; Iascone, Maria; Isidor, Bertrand; Jarvela, Irma; Jin, Jay J.; Jorge, Alexander A. L.; Josifova, Dragana; Kalinauskiene, Ruta; Kamsteeg, Erik-Jan; Keren, Boris; Kessler, Elena; Koelbel, Heike; Kozenko, Mariya; Kubisch, Christian; Kuechler, Alma; Leal, Suzanne M.; Leppala, Juha; Luu, Sharon M.; Lyon, Gholson J.; Madan-Khetarpal, Suneeta; Mancardi, Margherita; Marchi, Elaine; Mehta, Lakshmi; Menendez, Beatriz; Morel, Chantal F.; Harasink, Sue Moyer; Nevay, Dayna-Lynn; Nigro, Vincenzo; Odent, Sylvie; Oegema, Renske; Pappas, John; Pastore, Matthew T.; Perilla-Young, Yezmin; Platzer, Konrad; Powell-Hamilton, Nina; Rabin, Rachel; Rekab, Aisha; Rezende, Raissa C.; Robert, Leema; Romano, Ferruccio; Scala, Marcello; Poths, Karin; Schrauwen, Isabelle; Sebastian, Jessica; Short, John; Sidlow, Richard; Sullivan, Jennifer; Szakszon, Katalin; Tan, Queenie K. G.; Wagner, Matias; Wieczorek, Dagmar; Yuan, Bo; Maeding, Nicole; Strunk, Dirk; Begtrup, Amber; Banka, Siddharth; Lupski, James R.; Tolosa, Eva; Lessel, Davor Share Save
Absence of Pathogenic Mutations and Strong Association With HLA-DRB1*11:01 in Statin-Naive Early-Onset Anti-HMGCR Necrotizing Myopathy Llanso, Laura; Segarra-Casas, Alba; Dominguez-Gonzalez, Cristina; Malfatti, Edoardo; Kapetanovic, Solange; Rodriguez-Santiago, Benjamin; de la Calle, Oscar; Blanco, Rosa; Dobrescu, Amelia; Nascimento-Osorio, Andres; Paipa, Andres; Hernandez-Lain, Aurelio; Jou, Cristina; Mariscal, Anais; Gonzalez-Mera, Laura; Arteche, Ana; Lleixa, Cinta; Caballero-Avila, Marta; Carbayo, Alvaro; Vesperinas, Ana; Querol, Luis; Gallardo, Eduard; Olive, Montse Share Save
Non-apoptotic FAS signaling controls mTOR activation and extrafollicular maturation in human B cells Staniek, Julian; Kalina, Tomas; Andrieux, Geoffroy; Boerries, Melanie; Janowska, Iga; Fuentes, Manuel; Diez, Paula; Bakardjieva, Marina; Stancikova, Jitka; Raabe, Jan; Neumann, Julika; Schwenk, Sabine; Arpesella, Leonardo; Stuchly, Jan; Benes, Vladimir; Garcia Valiente, Rodrigo; Fernandez Garcia, Jonatan; Carsetti, Rita; Piano Mortari, Eva; Catala, Albert; de la Calle, Oscar; Sogkas, Georgios; Neven, Benedicte; Rieux-Laucat, Frederic; Magerus, Aude; Neth, Olaf; Olbrich, Peter; Voll, Reinhard E.; Alsina, Laia; Allende, Luis M.; Gonzalez-Granado, Luis I.; Boehler, Chiara; Thiel, Jens; Venhoff, Nils; Lorenzetti, Raquel; Warnatz, Klaus; Unger, Susanne; Seidl, Maximilian; Mielenz, Dirk; Schneider, Pascal; Ehl, Stephan; Rensing-Ehl, Anne; Smulski, Cristian Roberto; Rizzi, Marta Share Save
Inherited human ezrin deficiency impairs adaptive immunity Garcia-Solis, Blanca; Van Den Rym, Ana Den; Martinez-Martinez, Laura; Franco, Teresa; Perez-Caraballo, Jareb J.; Markle, Janet; Cubillos-Zapata, Carolina; Marin, Ana, V; Recio, Maria J.; Regueiro, Jose R.; Navarro-Zapata, Alfonso; Mestre-Duran, Carmen; Ferreras, Cristina; Cotazar, Carla Martin; Mena, Rocio; de la Calle-Fabregat, Carlos; Lopez-Lera, Alberto; Arquero, Miguel Fernandez; Perez-Martinez, Antonio; Lopez-Collazo, Eduardo; Sanchez-Ramon, Silvia; Casanova, Jean-Laurent; Martinez-Barricarte, Ruben; de la Calle-Martin, Oscar; de Diego, Rebeca Perez Share Save
Unexpected relevant role of gene mosaicism in patients with primary immunodeficiency diseases Mensa-Vilaro, Anna; Bravo Garcia-Morato, Maria; de la Calle-Martin, Oscar; Franco-Jarava, Clara; Teresa Martinez-Saavedra, Maria; Gonzalez-Granado, Luis I.; Gonzalez-Roca, Eva; Luis Fuster, Jose; Alsina, Laia; Mutchinick, Osvaldo M.; Balderrama-Rodriguez, Angelica; Ramos, Eduardo; Modesto, Consuelo; Mesa-del-Castillo, Pablo; Ortego-Centeno, Norberto; Clemente, Daniel; Souto, Alejandro; Palmou, Natalia; Remesal, Agustin; Leslie, Kieron S.; Gomez de la Fuente, Enrique; Bravo Gallego, Luz Yadira; Maria Campistol, Josep; Guirat Dhouib, Naouel; Bejaoui, Mohamed; Almeida Dutra, Livia; Teresa Terreri, Maria; Mosquera, Catalina; Gonzalez, Tatiana; Canellas, Jeronima; Maria Garcia-Ruiz de Morales, Jose; Wouters, Carine H.; Teresa Bosque, Maria; Cham, Weng Tarng; Jimenez-Trevino, Santiago; de Inocencio, Jaime; Bloomfield, Marketa; Perez de Diego, Rebeca; Martinez-Pomar, Natalia; Rodriguez-Pena, Rebeca; Gonzalez-Santesteban, Cecilia; Soler-Palacin, Pere; Casals, Ferran; Yague, Jordi; Allende, Luis M.; Carlos Rodriguez-Gallego, Jose; Colobran, Roger; Martinez-Martinez, Laura; Lopez-Granados, Eduardo; Arostegui, Juan I. Share Save
Hematopoietic stem cell transplantation in patients with gain-of-function signal transducer and activator of transcription 1 mutations Leiding, Jennifer W.; Okada, Satoshi; Hagin, David; Abinun, Mario; Shcherbina, Anna; Balashov, Dmitry N.; Kim, Vy H. D.; Ovadia, Adi; Guthery, Stephen L.; Pulsipher, Michael; Lilic, Desa; Devlin, Lisa A.; Christie, Sharon; Depner, Mark; Fuchs, Sebastian; van Royen-Kerkhof, Annet; Lindemans, Caroline; Petrovic, Aleksandra; Sullivan, Kathleen E.; Bunin, Nancy; Kilic, Sara Sebnem; Arpaci, Fikret; de la Calle-Martin, Oscar; Martinez-Martinez, Laura; Aldave, Juan Carlos; Kobayashi, Masao; Ohkawa, Teppei; Imai, Kohsuke; Iguchi, Akihiro; Roifman, Chaim M.; Gennery, Andrew R.; Slatter, Mary; Ochs, Hans D.; Morio, Tomohiro; Torgerson, Troy R. Share Save
Anti-NF155 chronic inflammatory demyelinating polyradiculoneuropathy strongly associates to HLA-DRB15 Martinez-Martinez, Laura; Cinta Lleixa, Ma.; Boera-Carnicero, Gemma; Cortese, Andrea; Devaux, Jerome; Siles, Ana; Rajabally, Yusuf; Martinez-Pineiro, Alicia; Carvajal, Alejandra; Pardo, Julio; Delmont, Emilien; Attarian, Shahram; Diaz-Manera, Jordi; Callegari, Ilaria; Marchioni, Enrico; Franciotta, Diego; Benedetti, Luana; Lauria, Guiseppe; de la Calle Martin, Oscar; Juarez, Candido; Illa, Isabel; Querol, Luis Share Save
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Gly111Ser mutation in CD8A gene causing CD8 immunodeficiency is found in Spanish Gypsies Mancebo, Esther; Moreno-Pelayo, Miguel A.; Mencia, Angeles; de la Calle-Martin, Oscar; Allende, Luis M.; Sivadorai, Padma; Kalaydjieva, Luba; Bertranpetit, Jaurne; Coto, Eliecer; Antolin, Sara Callej; Ruiz-Contreras, Jesus; Paz-Artal, Estela Share Save
Identification of male cardiomyocytes of extracardiac origin in the hearts of women with male progeny: Male fetal cell microchimerism of the heart Bayes-Genis, A; Bellosillo, B; de La Calle, O; Salido, M; Roura, S; Ristol, FS; Soler, C; Martinez, M; Espinet, B; Serrano, S; de Luna, AB; Cinca, J Share Save
Gains of glycosylation comprise an unexpectedly large group of pathogenic mutations Vogt, G; Chapgier, A; Yang, K; Chuzhanova, N; Feinberg, J; Fieschi, C; Boisson-Dupuis, S; Alcais, A; Filipe-Santos, O; Bustamante, J; de Beaucoudrey, L; Al-Mohsen, I; Al-Hajjar, S; Al-Ghonaium, A; Adimi, P; Mirsaeidi, M; Khalilzadeh, S; Rosenzweig, S; Martin, OD; Bauer, TR; Puck, JM; Ochs, HD; Furthner, D; Engelhorn, C; Mansouri, D; Holland, SM; Schreiber, RD; Abel, L; Cooper, DN; Soudais, C; Casanova, JL Share Save
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Familial CDS deficiency due to a mutation in the CD8α gene de la Calle-Martin, O; Hernandez, M; Ordi, J; Casamitjana, N; Arostegui, JI; Caragol, I; Ferrando, M; Labrador, M; Rodriguez-Sanchez, JL; Espanol, T Share Save
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