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Deleterious de novo variants of X‐linked ZC4H2 in females cause a variable phenotype with neurogenic arthrogryposis multiplex congenita
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, Roozendaal, Kees, Stevens, Servi J.C., Macville, Merryn V.E., Al‐Nasiry, Salwan, 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.
Published in Human mutation (01.12.2019)
Published in Human mutation (01.12.2019)
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Neurodevelopmental mutation of giant ankyrin-G disrupts a core mechanism for axon initial segment assembly
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
Published in Proceedings of the National Academy of Sciences - PNAS (24.09.2019)
Published in Proceedings of the National Academy of Sciences - PNAS (24.09.2019)
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The development of selective stopping: Qualitative and quantitative changes from childhood to early adulthood
Albert, Jacobo, Rincón‐Pérez, Irene, Sánchez‐Carmona, Alberto J., Arroyo‐Lozano, Susana, Olmos, Ricardo, Hinojosa, José A., Fernández‐Jaén, Alberto, López‐Martín, Sara
Published in Developmental science (01.09.2022)
Published in Developmental science (01.09.2022)
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A novel human Cdh1 mutation impairs anaphase promoting complex/cyclosome activity resulting in microcephaly, psychomotor retardation, and epilepsy
Rodríguez, Cristina, Sánchez‐Morán, Irene, Álvarez, Sara, Tirado, Pilar, Fernández‐Mayoralas, Daniel M., Calleja‐Pérez, Beatriz, Almeida, Ángeles, Fernández‐Jaén, Alberto
Published in Journal of neurochemistry (01.10.2019)
Published in Journal of neurochemistry (01.10.2019)
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Dystonia caused by ANO3 variants is due to attenuated Ca2+ influx by ORAI1
Ousingsawat, Jiraporn, Talbi, Khaoula, Gómez-Martín, Hilario, Koy, Anne, Fernández-Jaén, Alberto, Tekgül, Hasan, Serdaroğlu, Esra, Ortigoza-Escobar, Juan Darío, Schreiber, Rainer, Kunzelmann, Karl
Published in BMC medicine (07.01.2025)
Published in BMC medicine (07.01.2025)
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Tatton‐Brown–Rahman syndrome: Novel pathogenic variants and new neuroimaging findings
Jiménez de la Peña, Mar, Rincón‐Pérez, Irene, López‐Martín, Sara, Albert, Jacobo, Martín Fernández‐Mayoralas, Daniel, Fernández‐Perrone, Ana Laura, Jiménez de Domingo, Ana, Tirado, Pilar, Calleja‐Pérez, Beatriz, Porta, Javier, Álvarez, Sara, Fernández‐Jaén, Alberto
Published in American journal of medical genetics. Part A (01.02.2024)
Published in American journal of medical genetics. Part A (01.02.2024)
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Etiological involvement of KCND1 variants in an X-linked neurodevelopmental disorder with variable expressivity
Kalm, Tassja, Schob, Claudia, Völler, Hanna, Gardeitchik, Thatjana, Gilissen, Christian, Pfundt, Rolph, Klöckner, Chiara, Platzer, Konrad, Klabunde-Cherwon, Annick, Ries, Markus, Syrbe, Steffen, Beccaria, Francesca, Madia, Francesca, Scala, Marcello, Zara, Federico, Hofstede, Floris, Simon, Marleen E.H., van Jaarsveld, Richard H., Oegema, Renske, van Gassen, Koen L.I., Holwerda, Sjoerd J.B., Barakat, Tahsin Stefan, Bouman, Arjan, van Slegtenhorst, Marjon, Álvarez, Sara, Fernández-Jaén, Alberto, Porta, Javier, Accogli, Andrea, Mancardi, Margherita Maria, Striano, Pasquale, Iacomino, Michele, Chae, Jong-Hee, Jang, SeSong, Kim, Soo Y., Chitayat, David, Mercimek-Andrews, Saadet, Depienne, Christel, Kampmeier, Antje, Kuechler, Alma, Surowy, Harald, Bertini, Enrico Silvio, Radio, Francesca Clementina, Mancini, Cecilia, Pizzi, Simone, Tartaglia, Marco, Gauthier, Lucas, Genevieve, David, Tharreau, Mylène, Azoulay, Noy, Zaks-Hoffer, Gal, Gilad, Nesia K., Orenstein, Naama, Bernard, Geneviève, Thiffault, Isabelle, Denecke, Jonas, Herget, Theresia, Kortüm, Fanny, Kubisch, Christian, Bähring, Robert, Kindler, Stefan
Published in American journal of human genetics (06.06.2024)
Published in American journal of human genetics (06.06.2024)
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Tenorio syndrome: Description of 14 novel cases and review of the clinical and molecular features
Tenorio‐Castaño, Jair Antonio, Arias, Pedro, Fernández‐Jaén, Alberto, Lay‐Son, Guillermo, Bueno‐Lozano, Gloria, Bayat, Allan, Faivre, Laurence, Gallego, Natalia, Ramos, Sergio, Butler, Kameryn M., Morel, Chantal, Hadjiyannakis, Stasia, Lespinasse, James, Tran‐Mau‐Them, Frederic, Santos‐Simarro, Fernando, Pinson, Lucile, Martínez‐Monseny, Antonio Federico, O'Callaghan Cord, María del Mar, Álvarez, Sara, Stolerman, Elliot S., Washington, Camerun, Ramos, Feliciano J., The S. O. G. R. I. Consortium, Lapunzina, Pablo
Published in Clinical genetics (01.10.2021)
Published in Clinical genetics (01.10.2021)
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Early Severe Cortical Involvement and Novel FUCA1 Mutations in a Pediatric Fucosidosis Case
Peña, Mar Jiménez, López‐Martín, Sara, Fernández‐Mayoralas, Daniel Martín, Fernández‐Perrone, Ana Laura, Jiménez de Domingo, Ana, Tirado, Pilar, Calleja‐Pérez, Beatriz, Álvarez, Sara, Albert, Jacobo, Fernández‐Jaén, Alberto
Published in Molecular genetics & genomic medicine (01.02.2025)
Published in Molecular genetics & genomic medicine (01.02.2025)
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The variability of SMARCA4‐related Coffin–Siris syndrome: Do nonsense candidate variants add to milder phenotypes?
Li, Dong, Ahrens‐Nicklas, Rebecca C., Baker, Janice, Bhambhani, Vikas, Calhoun, Amy, Cohen, Julie S., Deardorff, Matthew A., Fernández‐Jaén, Alberto, Kamien, Benjamin, Jain, Mahim, Mckenzie, Fiona, Mintz, Mark, Motter, Constance, Niles, Kirsten, Ritter, Alyssa, Rogers, Curtis, Roifman, Maian, Townshend, Sharron, Ward‐Melver, Catherine, Schrier Vergano, Samantha A.
Published in American journal of medical genetics. Part A (01.09.2020)
Published in American journal of medical genetics. Part A (01.09.2020)
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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
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.
Published in BMC psychiatry (08.02.2018)
Published in BMC psychiatry (08.02.2018)
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Effect of an autism-associated KCNMB2 variant, G124R, on BK channel properties
Moldenhauer, Hans J., Dinsdale, Ria L., Alvarez, Sara, Fernández-Jaén, Alberto, Meredith, Andrea L.
Published in Current research in physiology (01.01.2022)
Published in Current research in physiology (01.01.2022)
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ANO3 and early-onset dyskinetic encephalopathy
Jiménez de Domingo, Ana, Lopez-Martín, Sara, Albert, Jacobo, Jiménez de la Peña, Mar, Tirado, Pilar, Fernández-Mayoralas, Daniel Martín, Fernández-Perrone, Ana Laura, Calleja-Pérez, Beatriz, Martínez-García, Mónica, Álvarez, Sara, Fernández-Jaén, Alberto
Published in European journal of medical genetics (01.12.2020)
Published in European journal of medical genetics (01.12.2020)
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Cerebral palsy, epilepsy, and severe intellectual disability in a patient with 3q29 microduplication syndrome
Fernández-Jaén, Alberto, Castellanos, María del Carmen, Fernández-Perrone, Ana Laura, Fernández-Mayoralas, Daniel Martín, de la Vega, Alberto González, Calleja-Pérez, Beatriz, Fernández, Ester Corbacho, Albert, Jacobo, Hombre, María Carmen Sánchez
Published in American journal of medical genetics. Part A (01.08.2014)
Published in American journal of medical genetics. Part A (01.08.2014)
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Broadening the clinical spectrum: molecular mechanisms and new phenotypes of ANO3-dystonia
Ousingsawat, Jiraporn, Talbi, Khaoula, Gómez-Martín, Hilario, Koy, Anne, Fernández-Jaén, Alberto, Tekgül, Hasan, Serdaroğlu, Esra, Schreiber, Rainer, Ortigoza-Escobar, Juan Dario, Kunzelmann, Karl
Published in Brain (London, England : 1878) (03.06.2024)
Published in Brain (London, England : 1878) (03.06.2024)
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Cortical Thickness in Fetal Alcohol Syndrome and Attention Deficit Disorder
Fernández-Jaén, Alberto, Fernández-Mayoralas, Daniel Martín, Quiñones Tapia, Diana, Calleja-Pérez, Beatriz, García-Segura, Juan Manuel, Arribas, Sonia López, Muñoz Jareño, Nuria
Published in Pediatric neurology (01.12.2011)
Published in Pediatric neurology (01.12.2011)
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Microduplication 10q24.31 in a Spanish girl with scoliosis and myopathy: The critical role of LBX
Fernández-Jaén, Alberto, Suela, Javier, Fernández-Mayoralas, Daniel Martín, Fernández-Perrone, Ana Laura, Wotton, Karl R., Dietrich, Susanne, Castellanos, Maria del Carmen, Cigudosa, Juan C., Calleja-Pérez, Beatriz, López-Martín, Sara
Published in American journal of medical genetics. Part A (01.08.2014)
Published in American journal of medical genetics. Part A (01.08.2014)
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Enhanced MAPK1 Function Causes a Neurodevelopmental Disorder within the RASopathy Clinical Spectrum
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
Published in American journal of human genetics (03.09.2020)
Published in American journal of human genetics (03.09.2020)
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High Functioning Autism with Missense Mutations in Synaptotagmin-Like Protein 4 (SYTL4) and Transmembrane Protein 187 (TMEM187) Genes: SYTL4- Protein Modeling, Protein-Protein Interaction, Expression Profiling and MicroRNA Studies
Rafi, Syed K., Fernández-Jaén, Alberto, Álvarez, Sara, Nadeau, Owen W., Butler, Merlin G.
Published in International journal of molecular sciences (09.07.2019)
Published in International journal of molecular sciences (09.07.2019)
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HDAC9 structural variants disrupting TWIST1 transcriptional regulation lead to craniofacial and limb malformations
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.
Published in Genome research (01.07.2022)
Published in Genome research (01.07.2022)
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