Vyzkoušejte nový nástroj s podporou AI
Summon Research Assistant
BETA
Comprehensive Clinical and Genetic Characterization of a Spanish Cohort of 22 Patients With Bainbridge–Ropers Syndrome
Trujillano, Laura, Valenzuela, Irene, Costa‐Roger, Mar, Cuscó, Ivon, Fernandez‐Alvarez, Paula, Cueto‐González, Anna, Lasa‐Aranzasti, Amaia, Masotto, Bárbara, Abulí, Anna, Codina‐Solà, Marta, Campo, Miguel, Ruiz Moreno, Juan Antonio, Pardo Domínguez, Cristina, Palma Milla, Carmen, Pérez de la Fuente, Rubén, Quesada‐Espinosa, Juan Francisco, Núñez‐Enamorado, Noemí, Gener, Blanca, Ballesta‐Martínez, María Juliana, Brea‐Fernández, Alejandro J., Fernández‐Prieto, Montse, Trujillo‐Quintero, Juan Pablo, Ruiz, Anna, Santos‐Simarro, Fernando, Rosello, Mónica, Orellana, Carmen, Martinez, Francisco, Martinez‐Monseny, Antonio F., Casas‐Alba, Dídac, Serrano, Mercedes, Palomares‐Bralo, María, Rikeros‐Orozco, Emi, Gómez‐Cano, María Ángeles, Tirado‐Requero, Pilar, Pié Juste, Juan, Ramos, Feliciano J., García‐Arumí, Elena, Tizzano, Eduardo F.
Published in Clinical genetics (01.06.2025)
Published in Clinical genetics (01.06.2025)
Get full text
Journal Article
Natural gene therapy by reverse mosaicism leads to improved hematology in Fanconi anemia patients
Ramírez, María José, Pujol, Roser, Trujillo‐Quintero, Juan Pablo, Minguillón, Jordi, Bogliolo, Massimo, Río, Paula, Navarro, Susana, Casado, José A., Badell, Isabel, Carrasco, Estela, Balmaña, Judith, Català, Albert, Sevilla, Julián, Beléndez, Cristina, Argilés, Bienvenida, López, Mónica, Díaz de Heredia, Cristina, Rao, Gayatri, Nicoletti, Eileen, Schwartz, Jonathan D., Bueren, Juan A., Surrallés, Jordi
Published in American journal of hematology (01.08.2021)
Published in American journal of hematology (01.08.2021)
Get full text
Journal Article
A Novel RHEB Germline Variant Associated With Intellectual Disability and Epilepsy: Expanding the Spectrum of mTORopathies
Trujillo‐Quintero, Juan Pablo, Brunet‐Vega, Anna, Spataro, Nino, Petanas, Joan, Gallego, Oriol, Mateo, Francesca, Pujana, Miquel Angel, Ruiz, Anna
Published in Clinical genetics (01.08.2025)
Published in Clinical genetics (01.08.2025)
Get full text
Journal Article
High Performance of a Dominant/X-Linked Gene Panel in Patients with Neurodevelopmental Disorders
Spataro, Nino, Trujillo-Quintero, Juan Pablo, Manso, Carmen, Gabau, Elisabeth, Capdevila, Nuria, Martinez-Glez, Victor, Berenguer-Llergo, Antoni, Reyes, Sara, Brunet, Anna, Baena, Neus, Guitart, Miriam, Ruiz, Anna
Published in Genes (13.03.2023)
Published in Genes (13.03.2023)
Get full text
Journal Article
Case report: Identification of a novel variant p.Gly215Arg in the CHN1 gene causing Moebius syndrome
Manso-Bazús, Carmen, Spataro, Nino, Gabau, Elisabeth, Beltrán-Salazar, Viviana P., Trujillo-Quintero, Juan Pablo, Capdevila, Nuria, Brunet-Vega, Anna, Baena, Neus, Jeyaprakash, A Arockia, Martinez-Glez, Victor, Ruiz, Anna
Published in Frontiers in genetics (31.01.2024)
Published in Frontiers in genetics (31.01.2024)
Get full text
Journal Article
A Novel Heterozygous Intronic Mutation in the FBN1 Gene Contributes to FBN1 RNA Missplicing Events in the Marfan Syndrome
Mikhailov, Alexander T., Evangelista, Arturo, Trujillo-Quintero, Juan Pablo, Maneiro, Emilia, Torrado, Mario, Monserrat, Lorenzo
Published in BioMed research international (01.01.2018)
Published in BioMed research international (01.01.2018)
Get full text
Journal Article
Two Novel Cases of Autosomal Recessive Noonan Syndrome Associated With LZTR1 Variants
Perin, Francesca, Trujillo-Quintero, Juan Pablo, Jimenez-Jaimez, Juan, Rodríguez-Vázquez del Rey, María del Mar, Monserrat, Lorenzo, Tercedor, Luis
Published in Revista española de cardiología (English ed.) (01.11.2019)
Published in Revista española de cardiología (English ed.) (01.11.2019)
Get full text
Journal Article
Incomplete Mass Phenotype: Description of a New Pathogenic Variant of the Fibrillin-1 Gene
Piqueras-Flores, Jesús, Trujillo-Quintero, Juan Pablo, Frías-García, Raquel, González-Marín, María Arántzazu, Monserrat, Lorenzo, Hernández-Herrera, Germán
Published in Revista española de cardiología (English ed.) (01.10.2019)
Published in Revista española de cardiología (English ed.) (01.10.2019)
Get full text
Journal Article
Monoallelic loss-of-function variants in GSK3B lead to autism and developmental delay
Tan, Senwei, Zhang, Qiumeng, Zhan, Rui, Luo, Si, Han, Yaoling, Yu, Bin, Muss, Candace, Pingault, Veronique, Marlin, Sandrine, Delahaye, Andrée, Peters, Sophia, Perne, Claudia, Kreiß, Martina, Spataro, Nino, Trujillo-Quintero, Juan Pablo, Racine, Caroline, Tran-Mau-Them, Frederic, Phornphutkul, Chanika, Besterman, Aaron D., Martinez, Julian, Wang, Xiuxia, Tian, Xiaoyu, Srivastava, Siddharth, Urion, David K., Madden, Jill A., Saif, Hind Al, Morrow, Michelle M., Begtrup, Amber, Li, Xing, Jurgensmeyer, Sarah, Leahy, Peter, Zhou, Shimin, Li, Faxiang, Hu, Zhengmao, Tan, Jieqiong, Xia, Kun, Guo, Hui
Published in Molecular psychiatry (01.05.2025)
Published in Molecular psychiatry (01.05.2025)
Get full text
Journal Article
Pathogenic de novo variants in PPP2R5C cause a neurodevelopmental disorder within the Houge-Janssens syndrome spectrum
Verbinnen, Iris, Douzgou Houge, Sofia, Hsieh, Tzung-Chien, Lesmann, Hellen, Kirchhoff, Aron, Geneviève, David, Brimble, Elise, Lenaerts, Lisa, Haesen, Dorien, Levy, Rebecca J., Thevenon, Julien, Faivre, Laurence, Marco, Elysa, Chong, Jessica X., Bamshad, Mike, Patterson, Karynne, Mirzaa, Ghayda M., Foss, Kimberly, Dobyns, William, White, Susan M., Pais, Lynn, O’Heir, Emily, Itzikowitz, Raphaela, Donald, Kirsten A., Van der Merwe, Celia, Mussa, Alessandro, Cervini, Raffaela, Giorgio, Elisa, Roscioli, Tony, Dias, Kerith-Rae, Evans, Carey-Anne, Brown, Natasha J., Ruiz, Anna, Trujillo Quintero, Juan Pablo, Rabin, Rachel, Pappas, John, Yuan, Hai, Lachlan, Katherine, Thomas, Simon, Devlin, Anita, Wright, Michael, Martin, Richard, Karwowska, Joanna, Posmyk, Renata, Chatron, Nicolas, Stark, Zornitza, Heath, Oliver, Delatycki, Martin, Buchert, Rebecca, Korenke, Georg-Christoph, Ramsey, Keri, Narayanan, Vinodh, Grange, Dorothy K., Weisenberg, Judith L., Haack, Tobias B., Karch, Stephanie, Kipkemoi, Patricia, Mangi, Moses, Bindels de Heus, Karen G.C.B., de Wit, Marie-Claire Y., Barakat, Tahsin Stefan, Lim, Derek, Van Winckel, Géraldine, Spillmann, Rebecca C., Shashi, Vandana, Jacob, Maureen, Stehr, Antonia M., Krawitz, Peter, Douzgos Houge, Gunnar, Janssens, Veerle
Published in American journal of human genetics (06.03.2025)
Published in American journal of human genetics (06.03.2025)
Get full text
Journal Article
Prognostic significance of mutation type and chromosome fragility in Fanconi anemia
Ramírez, María José, Pujol, Roser, Minguillón, Jordi, Bogliolo, Massimo, Persico, Ilaria, Cavero, Debora, Cal, Aurora, Río, Paula, Navarro, Susana, Casado, José Antonio, Bailador, Almudena, Fuente, Antonio Sanchez, Heredia, Miguel López, Almazán, Francisco, Antelo, M. Luisa, Argilés, Bienvenida, Badell, Isabel, Baragaño, Marta, Beléndez, Cristina, Bermúdez, Mar, Bernués, Marta, Buedo, María Isabel, Carrasco, Estela, Català, Albert, Costa, Dolors, Cuesta, Isabel, Fernandez‐Delgado, Rafael, Fernández‐Teijeiro, Ana, Figuera, Ángela, García, Marta, Gondra, Ainhoa, González, Macarena, Muñiz, Soledad González, Hernández‐Rodríguez, Ines, Ibañez, Fátima, Kelleher, Nicholas John, Lendínez, Francisco, López, Mónica, López‐Almaraz, Ricardo, Marchante, Inmaculada, Mendoza, Carmen, Nieto, José, Ojeda, Emilio, Payán‐Pernía, Salvador, Peláez, Irene, Soto, Inmaculada Pérez, Portugal, Raquel, Ramos‐Arroyo, María A., Regueiro, Alexandra, Rodríguez, Ana, Rosell, Jordi, Saez, Raquel, Sánchez, José, Sánchez, Martha, Senent, MªLeonor, Tapia, María, Trujillo‐Quintero, Juan Pablo, Vagace, José Manuel, Verdú‐Amorós, Jaime, Verdugo, Victória, Vidales, Isabel, Villarreal, Jasson, Díaz‐de‐Heredia, Cristina, Sevilla, Julián, Bueren, Juan Antonio, Surrallés, Jordi
Published in American journal of hematology (01.02.2025)
Published in American journal of hematology (01.02.2025)
Get full text
Journal Article
Shprintzen-Goldberg syndrome and aortic dilatation: apropos of 2 new cases
Trujillo-Quintero, Juan Pablo, Gabau Vila, Elisabeth, Larrañaga Moreira, José María, Ruiz Nel·lo, Anna, Monserrat, Lorenzo, Barriales-Villa, Roberto
Published in Revista española de cardiología (English ed.) (01.06.2021)
Published in Revista española de cardiología (English ed.) (01.06.2021)
Get full text
Journal Article
Identification by next-generation sequencing of 2 novel cases of noncompaction cardiomyopathy associated with 1p36 deletions
Peña-Peña, María Luisa, Trujillo-Quintero, Juan Pablo, García-Medina, Dolores, Cantero-Pérez, Eva María, De Uña-Iglesias, David, Monserrat, Lorenzo
Published in Revista española de cardiología (English ed.) (01.09.2020)
Published in Revista española de cardiología (English ed.) (01.09.2020)
Get full text
Journal Article
Familial Brugada Syndrome Associated With a Complete Deletion of the SCN5A and SCN10A Genes
Trujillo-Quintero, Juan Pablo, Gutiérrez-Agulló, María, Ochoa, Juan Pablo, Martínez-Martínez, Juan Gabriel, de Uña, David, García-Fernández, Amaya
Published in Revista española de cardiología (English ed.) (01.02.2019)
Published in Revista española de cardiología (English ed.) (01.02.2019)
Get full text
Journal Article
Síndrome de Shprintzen-Goldberg y dilatación aórtica: a propósito de dos nuevos casos
Trujillo-Quintero, Juan Pablo, Gabau Vila, Elisabeth, Larrañaga Moreira, José María, Ruiz Nel·lo, Anna, Monserrat, Lorenzo, Barriales-Villa, Roberto
Published in Revista española de cardiologia (01.06.2021)
Published in Revista española de cardiologia (01.06.2021)
Get full text
Journal Article
Identificación mediante secuenciación de nueva generación de dos nuevos casos de miocardiopatía no compactada asociada a deleciones 1p36
Peña-Peña, María Luisa, Trujillo-Quintero, Juan Pablo, García-Medina, Dolores, Cantero-Pérez, Eva María, De Uña-Iglesias, David, Monserrat, Lorenzo
Published in Revista española de cardiologia (01.09.2020)
Published in Revista española de cardiologia (01.09.2020)
Get full text
Journal Article
Large Family With Marfan Syndrome Demonstrating the Pathogenicity of a “Synonymous” Variant (p.Ile2118=) in the Fibrillin-1 Gene
Trujillo-Quintero, Juan Pablo, Herrera-Noreña, José María, Mosquera-Rodríguez, Víctor X., Fernández-Fernández, Xusto, Vázquez-Rodríguez, José Manuel, Barriales-Villa, Roberto
Published in Revista española de cardiología (English ed.) (01.08.2017)
Published in Revista española de cardiología (English ed.) (01.08.2017)
Get full text
Journal Article
Dos nuevos casos autosómicos recesivos del síndrome de Noonan asociados con variantes del gen LTZR1
Perin, Francesca, Trujillo-Quintero, Juan Pablo, Jimenez-Jaimez, Juan, Rodríguez-Vázquez del Rey, María del Mar, Monserrat, Lorenzo, Tercedor, Luis
Published in Revista española de cardiologia (01.11.2019)
Published in Revista española de cardiologia (01.11.2019)
Get full text
Journal Article
Fenotipo incompleto de síndrome de Marfan tipo MASS: descripción de nueva variante patogénica del gen de la fibrilina-1
Piqueras-Flores, Jesús, Trujillo-Quintero, Juan Pablo, Frías-García, Raquel, González-Marín, María Arántzazu, Monserrat, Lorenzo, Hernández-Herrera, Germán
Published in Revista española de cardiologia (01.10.2019)
Published in Revista española de cardiologia (01.10.2019)
Get full text
Journal Article