检索结果 - Fernández-Jaén, Alberto

High Functioning Autism with Missense Mutations in Synaptotagmin-Like Protein 4 (SYTL4) and Transmembrane Protein 187 (TMEM187) Genes: SYTL4- Protein Modeling, Protein-Protein Inte... 由 Rafi, Syed K., Fernández-Jaén, Alberto, Álvarez, Sara, Nadeau, Owen W., Butler, Merlin G.

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A novel human Cdh1 mutation impairs anaphase promoting complex/cyclosome activity resulting in microcephaly, psychomotor retardation, and epilepsy 由 Rodríguez, Cristina, Sánchez‐Morán, Irene, Álvarez, Sara, Tirado, Pilar, Fernández‐Mayoralas, Daniel M., Calleja‐Pérez, Beatriz, Almeida, Ángeles, Fernández‐Jaén, Alberto

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Selective Inhibitory Control in Middle Childhood 由 Rincón-Pérez, Irene, Sánchez-Carmona, Alberto J., Arroyo-Lozano, Susana, García-Rubio, Carlos, Hinojosa, José Antonio, Fernández-Jaén, Alberto, López-Martín, Sara, Albert, Jacobo

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A Novel Loss-of-Function SEMA3E Mutation in a Patient with Severe Intellectual Disability and Cognitive Regression 由 Paganoni, Alyssa J. J., Amoruso, Federica, Porta Pelayo, Javier, Calleja-Pérez, Beatriz, Vezzoli, Valeria, Duminuco, Paolo, Caramello, Alessia, Oleari, Roberto, Fernández-Jaén, Alberto, Cariboni, Anna

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Neurodevelopmental mutation of giant ankyrin-G disrupts a core mechanism for axon initial segment assembly 由 Yang, Rui, Walder-Christensen, Kathryn K., Lalani, Samir, Yan, Haidun, García-Prieto, Irene Díez, Álvarez, Sara, Fernández-Jaén, Alberto, Speltz, Laura, Jiang, Yong-Hui, Bennett, Vann

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Mutations in BRAT1 cause autosomal recessive progressive encephalopathy: Report of a Spanish patient 由 Fernández-Jáen, Alberto, Álvarez, Sara, So, Eui Young, Ouchi, Toru, de la Peña, Mar Jiménez, Duat, Anna, Fernández-Mayoralas, Daniel Martín, Fernández-Perrone, Ana Laura, Albert, Jacobo, Calleja-Pérez, Beatriz

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Neuroimaging Findings in Patients with EBF3 Mutations: Report of Two Cases 由 Jiménez de la Peña, Mar, Jiménez de Domingo, Ana, Tirado, Pilar, Calleja-Pérez, Beatriz, Alcaraz, Luis A., Álvarez, Sara, Williams, Jonathan, Hagman, James R., Németh, Andrea H., Fernández-Jaén, Alberto

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Functional and structural deficiencies of Gemin5 variants associated with neurological disorders 由 Francisco-Velilla, Rosario, Embarc-Buh, Azman, del Caño-Ochoa, Francisco, Abellan, Salvador, Vilar, Marçal, Alvarez, Sara, Fernandez-Jaen, Alberto, Kour, Sukhleen, Rajan, Deepa S, Pandey, Udai Bhan, Ramón-Maiques, Santiago, Martinez-Salas, Encarnacion

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Bi-Allelic c.1746G>T; p.Leu582= Variants in TUBGCP4 in a Boy with Autism: Clinical Data and Literature Review 由 Martín Fernández-Mayoralas, Daniel, Albert, Jacobo, López-Martín, Sara, de la Peña, Mar Jiménez, Fernández-Perrone, Ana Laura, Jiménez de Domingo, Ana, Calleja-Pérez, Beatriz, Martínez-García, Mónica, Álvarez, Sara, Fernández-Jaén, Alberto

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Mutations in phospholipase C eta-1 (PLCH1) are associated with holoprosencephaly 由 Drissi, Ichrak, Fletcher, Emily, Shaheen, Ranad, Nahorski, Michael, Alhashem, Amal M, Lisgo, Steve, Fernández-Jaén, Alberto, Schon, Katherine, Tlili-Graiess, Kalthoum, Smithson, Sarah F, Lindsay, Susan, J Sharpe, Hayley, Alkuraya, Fowzan S, Woods, Geoff

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HDAC9 structural variants disrupting TWIST1 transcriptional regulation lead to craniofacial and limb malformations 由 Hirsch, Naama, Dahan, Idit, D'haene, Eva, Avni, Matan, Vergult, Sarah, Vidal-García, Marta, Magini, Pamela, Graziano, Claudio, Severi, Giulia, Bonora, Elena, Nardone, Anna Maria, Brancati, Francesco, Fernández-Jaén, Alberto, Rory, Olson J., Hallgrímsson, Benedikt, Birnbaum, Ramon Y.

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Biallelic SYNE2 Missense Mutations Leading to Nesprin-2 Giant Hypo-Expression Are Associated with Intellectual Disability and Autism 由 Young, Natalie, Asif, Maria, Jackson, Matthew, Fernández-Mayoralas, Daniel Martín, de la Peña, Mar Jimenez, Calleja-Pérez, Beatriz, Álvarez, Sara, Hunter-Featherstone, Eve, Noegel, Angelika A., Höhne, Wolfgang, Nürnberg, Peter, Obara, Boguslaw, Hussain, Muhammad Sajid, Karakesisoglou, Iakowos, Fernández-Jaén, Alberto

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Health care and societal costs of the management of children and adolescents with attention-deficit/hyperactivity disorder in Spain: a descriptive analysis 由 Quintero, Javier, Ramos-Quiroga, Josep A., Sebastián, Javier San, Montañés, Francisco, Fernández-Jaén, Alberto, Martínez-Raga, José, Giral, Marta García, Graell, Montserrat, Mardomingo, María J., Soutullo, César, Eiris, Jesús, Téllez, Montserrat, Pamias, Montserrat, Correas, Javier, Sabaté, Juncal, García-Orti, Laura, Alda, José A.

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Further delineation of neuropsychiatric findings in Tatton-Brown-Rahman syndrome due to disease-causing variants in DNMT3A: seven new patients 由 Tenorio, Jair, Alarcón, Pablo, Arias, Pedro, Dapía, Irene, García-Miñaur, Sixto, Palomares Bralo, María, Campistol, Jaume, Climent, Salvador, Valenzuela, Irene, Ramos, Sergio, Monseny, Antonio Martínez, Grondona, Fermina López, Botet, Javier, Serrano, Mercedes, Solís, Mario, Santos-Simarro, Fernando, Álvarez, Sara, Teixidó-Tura, Gisela, Fernández Jaén, Alberto, Gordo, Gema, Bardón Rivera, María Belén, Nevado, Julián, Hernández, Alicia, Cigudosa, Juan C., Ruiz-Pérez, Víctor L., Tizzano, Eduardo F., Lapunzina, Pablo

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Clinical and Genetic Features in Patients With Reflex Bathing Epilepsy 由 Accogli, Andrea, Wiegand, Gert, Scala, Marcello, Cerminara, Caterina, Iacomino, Michele, Riva, Antonella, Carlini, Barbara, Camerota, Letizia, Belcastro, Vincenzo, Prontera, Paolo, Fernández-Jaén, Alberto, Bebek, Nerses, Scudieri, Paolo, Baldassari, Simona, Salpietro, Vincenzo, Novelli, Giuseppe, De Luca, Chiara, von Stülpnagel, Celina, Kluger, Felicitas, Kluger, Gerhard Josef, Wohlrab, Gabriele Christine, Ramantani, Georgia, Lewis-Smith, David, Thomas, Rhys H., Lai, Ming, Verrotti, Alberto, Striano, Salvatore, Depienne, Christel, Minetti, Carlo, Benfenati, Fabio, Brancati, Francesco, Zara, Federico, Striano, Pasquale

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Deleterious de novo variants of X-linked ZC4H2 in females cause a variable phenotype with neurogenic arthrogryposis multiplex congenita 由 Frints, Suzanna G.M., Hennig, Friederike, Colombo, Roberto, Jacquemont, Sebastien, Terhal, Paulien, Zimmerman, Holly H., Hunt, David, Mendelsohn, Bryce A., Kordaß, Ulrike, Webster, Richard, Sinnema, Margje, Abdul-Rahman, Omar, Suckow, Vanessa, Fernández-Jaén, Alberto, van Roozendaal, Kees, Stevens, Servi J.C., Macville, Merryn V.E., Al-Nasiry, Salwan, van Gassen, Koen, Utzig, Norbert, Koudijs, Suzanne M., McGregor, Lesley, Maas, Saskia M., Baralle, Diana, Dixit, Abhijit, Wieacker, Peter, Lee, Marcus, Lee, Arthur S., Engle, Elizabeth C., Houge, Gunnar, Gradek, Gyri A., Douglas, Andrew G.L., Longman, Cheryl, Joss, Shelagh, Velasco, Danita, Hennekam, Raoul C., Hirata, Hiromi, Kalscheuer, Vera M.

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PIAS4 is associated with macro/microcephaly in the novel interstitial 19p13.3 microdeletion/microduplication syndrome 由 Nevado, Julián, Rosenfeld, Jill A, Mena, Rocío, Palomares-Bralo, María, Vallespín, Elena, Ángeles Mori, María, Tenorio, Jair A, Gripp, Karen W, Denenberg, Elizabeth, del Campo, Miguel, Plaja, Alberto, Martín-Arenas, Rubén, Santos-Simarro, Fernando, Armengol, Lluis, Gowans, Gordon, Orera, María, Sanchez-Hombre, M Carmen, Corbacho-Fernández, Esther, Fernández-Jaén, Alberto, Haldeman-Englert, Chad, Saitta, Sulagna, Dubbs, Holly, Bénédicte, Duban B, Li, Xia, Devaney, Lani, Dinulos, Mary Beth, Vallee, Stephanie, Crespo, M Carmen, Fernández, Blanca, Fernández-Montaño, Victoria E, Rueda-Arenas, Inmaculada, de Torres, María Luisa, Ellison, Jay W, Raskin, Salmo, Venegas-Vega, Carlos A, Fernández-Ramírez, Fernando, Delicado, Alicia, García-Miñaúr, Sixto, Lapunzina, Pablo

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Enhanced MAPK1 Function Causes a Neurodevelopmental Disorder within the RASopathy Clinical Spectrum 由 Motta, Marialetizia, Pannone, Luca, Pantaleoni, Francesca, Bocchinfuso, Gianfranco, Radio, Francesca Clementina, Cecchetti, Serena, Ciolfi, Andrea, Di Rocco, Martina, Elting, Mariet W., Brilstra, Eva H., Boni, Stefania, Mazzanti, Laura, Tamburrino, Federica, Walsh, Larry, Payne, Katelyn, Fernández-Jaén, Alberto, Ganapathi, Mythily, Chung, Wendy K., Grange, Dorothy K., Dave-Wala, Ashita, Reshmi, Shalini C., Bartholomew, Dennis W., Mouhlas, Danielle, Carpentieri, Giovanna, Bruselles, Alessandro, Pizzi, Simone, Bellacchio, Emanuele, Piceci-Sparascio, Francesca, Lißewski, Christina, Brinkmann, Julia, Waclaw, Ronald R., Waisfisz, Quinten, van Gassen, Koen, Wentzensen, Ingrid M., Morrow, Michelle M., Álvarez, Sara, Martínez-García, Mónica, De Luca, Alessandro, Memo, Luigi, Zampino, Giuseppe, Rossi, Cesare, Seri, Marco, Gelb, Bruce D., Zenker, Martin, Dallapiccola, Bruno, Stella, Lorenzo, Prada, Carlos E., Martinelli, Simone, Flex, Elisabetta, Tartaglia, Marco

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Further Delineation of the Clinical Spectrum of KAT6B Disorders and Allelic Series of Pathogenic Variants 由 Zhang, Li Xin, Lemire, Gabrielle, Gonzaga-Jauregui, Claudia, Molidperee, Sirinart, Galaz-Montoya, Carolina, Liu, David S., Verloes, Alain, Shillington, Amelle G., Izumi, Kosuke, Ritter, Alyssa L., Keena, Beth, Zackai, Elaine, Li, Dong, Bhoj, Elizabeth, Tarpinian, Jennifer M., Bedoukian, Emma, Kukolich, Mary K., Innes, A. Micheil, Ediae, Grace U., Sawyer, Sarah L., Nair, Karippoth Mohandas, Soumya, Para Chottil, Subbaraman, Kinattinkara R., Probst, Frank J., Bassetti, Jennifer A., Sutton, Reid V., Gibbs, Richard A., Brown, Chester, Boone, Philip M., Holm, Ingrid A., Tartaglia, Marco, Ferrero, Giovanni Battista, Niceta, Marcello, Dentici, Maria Lisa, Radio, Francesca Clementina, Keren, Boris, Wells, Constance F., Coubes, Christine, Laquerrière, Annie, Aziza, Jacqueline, Dubucs, Charlotte, Nampoothiri, Sheela, Mowat, David, Patel, Millan, Bracho, Ana, Cammarata-Scalisi, Francisco, Gezdirici, Alper, Fernandez-Jaen, Alberto, Hauser, Natalie, Zarate, Yuri A., Bosanko, Katherine A., Dieterich, Klaus, Carey, John C., Chong, Jessica X., Nickerson, Deborah A., Bamshad, Michael J., Lee, Brendan H., Yang, Xiang-Jiao, Lupski, James R., Campeau, Philippe M.

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Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability, speech delay, and dysmorphism 由 Chopra, Maya, McEntagart, Meriel, Clayton-Smith, Jill, Platzer, Konrad, Shukla, Anju, Girisha, Katta M., Kaur, Anupriya, Kaur, Parneet, Pfundt, Rolph, Veenstra-Knol, Hermine, Mancini, Grazia M.S., Cappuccio, Gerarda, Brunetti-Pierri, Nicola, Kortüm, Fanny, Hempel, Maja, Denecke, Jonas, Lehman, Anna, Kleefstra, Tjitske, Stuurman, Kyra E., Wilke, Martina, Thompson, Michelle L., Bebin, E. Martina, Bijlsma, Emilia K., Hoffer, Mariette J.V., Peeters-Scholte, Cacha, Slavotinek, Anne, Weiss, William A., Yip, Tiffany, Hodoglugil, Ugur, Whittle, Amy, diMonda, Janette, Neira, Juanita, Yang, Sandra, Kirby, Amelia, Pinz, Hailey, Lechner, Rosan, Sleutels, Frank, Helbig, Ingo, McKeown, Sarah, Helbig, Katherine, Willaert, Rebecca, Juusola, Jane, Semotok, Jennifer, Hadonou, Medard, Short, John, Yachelevich, Naomi, Lala, Sajel, Fernández-Jaen, Alberto, Pelayo, Janvier Porta, Klöckner, Chiara, Kamphausen, Susanne B., Abou Jamra, Rami, Arelin, Maria, Innes, A. Micheil, Niskakoski, Anni, Amin, Sam, Williams, Maggie, Evans, Julie, Smithson, Sarah, Smedley, Damian, de Burca, Anna, Kini, Usha, Delatycki, Martin B., Gallacher, Lyndon, Yeung, Alison, Pais, Lynn, Field, Michael, Martin, Ellenore, Charles, Perrine, Courtin, Thomas, Keren, Boris, Iascone, Maria, Cereda, Anna, Poke, Gemma, Abadie, Véronique, Chalouhi, Christel, Parthasarathy, Padmini, Halliday, Benjamin J., Robertson, Stephen P., Lyonnet, Stanislas, Amiel, Jeanne, Gordon, Christopher T.

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