Výsledky vyhledávání - Fernández-Jaen, Alberto
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1
High Functioning Autism with Missense Mutations in Synaptotagmin-Like Protein 4 (SYTL4) and Transmembrane Protein 187 (TMEM187) Genes: SYTL4- Protein Modeling, Protein-Protein Inte... Autor Rafi, Syed K., Fernández-Jaén, Alberto, Álvarez, Sara, Nadeau, Owen W., Butler, Merlin G.
Vydáno 2019Text -
2
A novel human Cdh1 mutation impairs anaphase promoting complex/cyclosome activity resulting in microcephaly, psychomotor retardation, and epilepsy Autor Rodríguez, Cristina, Sánchez‐Morán, Irene, Álvarez, Sara, Tirado, Pilar, Fernández‐Mayoralas, Daniel M., Calleja‐Pérez, Beatriz, Almeida, Ángeles, Fernández‐Jaén, Alberto
Vydáno 2019Text -
3
Selective Inhibitory Control in Middle Childhood Autor Rincón-Pérez, Irene, Sánchez-Carmona, Alberto J., Arroyo-Lozano, Susana, García-Rubio, Carlos, Hinojosa, José Antonio, Fernández-Jaén, Alberto, López-Martín, Sara, Albert, Jacobo
Vydáno 2021Text -
4
A Novel Loss-of-Function SEMA3E Mutation in a Patient with Severe Intellectual Disability and Cognitive Regression Autor 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
Vydáno 2022Text -
5
Neurodevelopmental mutation of giant ankyrin-G disrupts a core mechanism for axon initial segment assembly Autor 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
Vydáno 2019Text -
6
Mutations in BRAT1 cause autosomal recessive progressive encephalopathy: Report of a Spanish patient Autor 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
Vydáno 2016Text -
7
Neuroimaging Findings in Patients with EBF3 Mutations: Report of Two Cases Autor 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
Vydáno 2021Text -
8
Functional and structural deficiencies of Gemin5 variants associated with neurological disorders Autor 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
Vydáno 2022Text -
9
Bi-Allelic c.1746G>T; p.Leu582= Variants in TUBGCP4 in a Boy with Autism: Clinical Data and Literature Review Autor 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
Vydáno 2022Text -
10
Mutations in phospholipase C eta-1 (PLCH1) are associated with holoprosencephaly Autor 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
Vydáno 2022Text -
11
HDAC9 structural variants disrupting TWIST1 transcriptional regulation lead to craniofacial and limb malformations Autor 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.
Vydáno 2022Text -
12
Biallelic SYNE2 Missense Mutations Leading to Nesprin-2 Giant Hypo-Expression Are Associated with Intellectual Disability and Autism Autor 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
Vydáno 2021Text -
13
Health care and societal costs of the management of children and adolescents with attention-deficit/hyperactivity disorder in Spain: a descriptive analysis Autor 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.
Vydáno 2018Text -
14
Further delineation of neuropsychiatric findings in Tatton-Brown-Rahman syndrome due to disease-causing variants in DNMT3A: seven new patients Autor 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
Vydáno 2019Text -
15
Clinical and Genetic Features in Patients With Reflex Bathing Epilepsy Autor 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
Vydáno 2021Text -
16
Deleterious de novo variants of X-linked ZC4H2 in females cause a variable phenotype with neurogenic arthrogryposis multiplex congenita Autor 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.
Vydáno 2019Text -
17
PIAS4 is associated with macro/microcephaly in the novel interstitial 19p13.3 microdeletion/microduplication syndrome Autor 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
Vydáno 2015Text -
18
Enhanced MAPK1 Function Causes a Neurodevelopmental Disorder within the RASopathy Clinical Spectrum Autor 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
Vydáno 2020Text -
19
Further Delineation of the Clinical Spectrum of KAT6B Disorders and Allelic Series of Pathogenic Variants Autor 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.
Vydáno 2020Text -
20
Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability, speech delay, and dysmorphism Autor 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.
Vydáno 2021Text