New Cerebellar Ataxia, Neuropathy, Vestibular Areflexia Syndrome cases are caused by the presence of a nonsense variant in compound heterozygosity with the pathogenic repeat expansion in the RFC1 gene
Arteche‐López, Ana, Avila‐Fernandez, Almudena, Damian, Alejandra, Soengas‐Gonda, Emma, Fuente, Rubén Pérez, Gómez, Patricia Ramos, Merlo, Jesús Gallego, Burgos, Laura Horcajada, Fernández, Carlos Cemillán, Rosales, Jose Miguel Lezana, Martínez, Juan Francisco González, Quesada‐Espinosa, Juan Francisco, Corton, Marta, Guerrero‐Molina, Maria Paz
Published in Clinical genetics (01.02.2023)
Published in Clinical genetics (01.02.2023)
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Lethal Congenital Contracture Syndrome 11: A Case Report and Literature Review
Potrony, Miriam, Borrell, Antoni, Masoller, Narcís, Nadal, Alfons, Rodriguez-Carunchio, Leonardo, Saez de Gordoa Elizalde, Karmele, Quesada-Espinosa, Juan Francisco, Villanueva-Cañas, Jose Luis, Pauta, Montse, Jodar, Meritxell, Madrigal, Irene, Badenas, Celia, Alvarez-Mora, Maria Isabel, Rodriguez-Revenga, Laia
Published in Journal of clinical medicine (01.07.2022)
Published in Journal of clinical medicine (01.07.2022)
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PIK3CA-related overgrowth spectrum: concurrence of multiple anomalies in one patient
Tous-Romero, Fátima, Quesada-Espinosa, Juan Francisco, Sánchez-Calvín, María Teresa, Ortiz-Romero, Pablo Luis, Palencia-Pérez, Sara
Published in Journal der Deutschen Dermatologischen Gesellschaft (01.05.2018)
Published in Journal der Deutschen Dermatologischen Gesellschaft (01.05.2018)
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Adult‐onset nemaline myopathy due to a novel homozygous variant in the TNNT1 gene
Martín‐Jiménez, Paloma, Fuenmayor‐Fernández de la Hoz, Carlos Pablo de, Hernández‐Laín, Aurelio, Arteche‐López, Ana, Quesada‐Espinosa, Juan Francisco, Voth, Ana Hernández, Vesperinas, Ana, Olivé, Montse, Domínguez‐González, Cristina
Published in Muscle & nerve (01.10.2022)
Published in Muscle & nerve (01.10.2022)
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Fragile X Syndrome Caused by Maternal Somatic Mosaicism of FMR1 Gene: Case Report and Literature Review
Gómez-Rodríguez, Maria Jose, Morales-Conejo, Montserrat, Arteche-López, Ana, Sánchez-Calvín, Maria Teresa, Quesada-Espinosa, Juan Francisco, Gómez-Manjón, Irene, Palma-Milla, Carmen, Lezana-Rosales, Jose Miguel, Pérez de la Fuente, Ruben, Martin-Ramos, Maria-Luisa, Fernández-Guijarro, Manuela, Moreno-García, Marta, Alvarez-Mora, Maria Isabel
Published in Genes (08.09.2022)
Published in Genes (08.09.2022)
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Journal Article
Early-Onset Dementia Associated with a Heterozygous, Nonsense, and de novo Variant in the MBD5 Gene
González-Ortega, Guillermo, Llamas-Velasco, Sara, Arteche-López, Ana, Quesada-Espinosa, Juan Francisco, Puertas-Martín, Verónica, Gómez-Grande, Adolfo, López-Álvarez, Jorge, Saiz Díaz, Rosa Ana, Lezana-Rosales, José Miguel, Villarejo-Galende, Alberto, González de la Aleja, Jesús
Published in Journal of Alzheimer's disease (01.01.2021)
Published in Journal of Alzheimer's disease (01.01.2021)
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Journal Article
Heterozygous and Homozygous Variants in SORL1 Gene in Alzheimer's Disease Patients: Clinical, Neuroimaging and Neuropathological Findings
Alvarez-Mora, Maria Isabel, Blanco-Palmero, Victor Antonio, Quesada-Espinosa, Juan Francisco, Arteche-Lopez, Ana Rosa, Llamas-Velasco, Sara, Palma Milla, Carmen, Lezana Rosales, Jose Miguel, Gomez-Manjon, Irene, Hernandez-Lain, Aurelio, Jimenez Almonacid, Justino, Gil-Fournier, Belén, Ramiro-León, Soraya, González-Sánchez, Marta, Herrero-San Martín, Alejandro Octavio, Pérez-Martínez, David Andrés, Gómez-Tortosa, Estrella, Carro, Eva, Bartolomé, Fernando, Gomez-Rodriguez, Maria Jose, Sanchez-Calvin, María Teresa, Villarejo-Galende, Alberto, Moreno-Garcia, Marta
Published in International journal of molecular sciences (11.04.2022)
Published in International journal of molecular sciences (11.04.2022)
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Expanding the Phenotypic Spectrum of Alazami Syndrome: Two Unrelated Spanish Families
Soengas-Gonda, Emma, Pérez de la Fuente, Rubén, Arteche-López, Ana, Gómez-Cano, María de Los Ángeles, Quesada-Espinosa, Juan Francisco, Palma Milla, Carmen, Lezana Rosales, José Miguel, Mayo de Andrés, Sonia, Sánchez-Calvín, María Teresa, Gómez-Rodríguez, María José, Sierra Tomillo, Olalla, Juarez Rufian, Alexandra, Ramos Gomez, Patricia, Herrero-Forte, Clara, Fenollar-Cortés, Maria, Cotarelo-Pérez, Carmen, García Ron, Adrián, Pérez Rodríguez, Olga, Oancea-Ionescu, Raluca, Moreno-García, Marta
Published in Neuropediatrics (01.02.2023)
Published in Neuropediatrics (01.02.2023)
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Journal Article
PIK3CA-assoziiertes Überwuchsspektrum: gleichzeitiges Auftreten mehrerer Anomalien bei einem Patienten
Tous-Romero, Fátima, Quesada-Espinosa, Juan Francisco, Sánchez-Calvín, María Teresa, Ortiz-Romero, Pablo Luis, Palencia-Pérez, Sara
Published in Journal der Deutschen Dermatologischen Gesellschaft (01.05.2018)
Published in Journal der Deutschen Dermatologischen Gesellschaft (01.05.2018)
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211 Biallelic null mutations in PPM1D cause a novel combined immunodeficiency with severe neurodevelopmental defects
Sole, Ana Esteve, González-Granado, Luis Ignacio, Boast, Brigette, Niemela, Julie E., Stoddart, Jennifer L., Silva, Agustin G., Pias, Leticia, Bolasell, Merce, Marin, Ana V., Regueiro, Jose R, Alsina, Laia, Martine, Pierre, Brown, Kate, Apella, Ettore, Quesada, Juan Francisco, Sweeney, Colin L, Malech, Harry, Haigh, Cathryn L, Kueh, HyeSun, Rosenzweig, Sergio
Published in Clinical immunology (Orlando, Fla.) (01.05.2024)
Published in Clinical immunology (Orlando, Fla.) (01.05.2024)
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Cystic phenotype and chronic kidney disease in autosomal dominant Alport syndrome
Bada-Bosch, Teresa, Sevillano, Angel M, Teresa Sánchez-Calvin, María, Palma-Milla, Carmen, Alba de Cáceres, Ignacio, Díaz-Crespo, Francisco, Trujillo, Hernando, Alonso, Marina, Cases-Corona, Clara, Shabaka, Amir, Quesada-Espinosa, Juan Francisco, Rosales, José Miguel Lezana, Gutiérrez, Eduardo, Fernández-Juárez, Gema, Caravaca-Fontán, Fernando, Praga, Manuel
Published in Nephrology, dialysis, transplantation (31.07.2024)
Published in Nephrology, dialysis, transplantation (31.07.2024)
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Journal Article
PIK3CA‐assoziiertes Überwuchsspektrum: gleichzeitiges Auftreten mehrerer Anomalien bei einem Patienten
Fátima Tous‐Romero, Juan Francisco Quesada‐Espinosa, María Teresa Sánchez‐Calvín, Pablo Luis Ortiz‐Romero, Sara Palencia‐Pérez
Published in Journal der Deutschen Dermatologischen Gesellschaft (01.05.2018)
Published in Journal der Deutschen Dermatologischen Gesellschaft (01.05.2018)
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Journal Article
Diagnostic yield of genetic testing in adults with sensorineural hearing loss
Reda del Barrio, Sara, de Vergas Gutiérrez, Joaquín, Quesada-Espinosa, Juan Francisco, Sánchez-Calvín, María Teresa, Gómez-Manjón, Irene, Sierra-Tomillo, Olalla, Juárez-Rufián, Alexandra, García Fernández, Alfredo
Published in Acta otorrinolaringológica española (English) (01.05.2024)
Published in Acta otorrinolaringológica española (English) (01.05.2024)
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Journal Article
Genetic diagnosis of childhood sensorineural hearing loss
Reda del Barrio, Sara, García Fernández, Alfredo, Quesada-Espinosa, Juan Francisco, Sánchez-Calvín, María Teresa, Gómez-Manjón, Irene, Sierra-Tomillo, Olalla, Juárez-Rufián, Alexandra, de Vergas Gutiérrez, Joaquín
Published in Acta otorrinolaringológica española (English) (01.03.2024)
Published in Acta otorrinolaringológica española (English) (01.03.2024)
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Journal Article
Towards a Change in the Diagnostic Algorithm of Autism Spectrum Disorders: Evidence Supporting Whole Exome Sequencing as a First-Tier Test
Arteche-López, Ana, Gómez Rodríguez, Maria José, Sánchez Calvin, Maria Teresa, Quesada-Espinosa, Juan Francisco, Lezana Rosales, Jose Miguel, Palma Milla, Carmen, Gómez-Manjón, Irene, Hidalgo Mayoral, Irene, Pérez de la Fuente, Rubén, Díaz de Bustamante, Arancha, Darnaude, María Teresa, Gil-Fournier, Belén, Ramiro León, Soraya, Ramos Gómez, Patricia, Sierra Tomillo, Olalla, Juárez Rufián, Alexandra, Arranz Cano, Maria Isabel, Villares Alonso, Rebeca, Morales-Pérez, Pablo, Segura-Tudela, Alejandro, Camacho, Ana, Nuñez, Noemí, Simón, Rogelio, Moreno-García, Marta, Alvarez-Mora, Maria Isabel
Published in Genes (12.04.2021)
Published in Genes (12.04.2021)
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Journal Article
Expanding the clinical and genetic spectrum of SQSTM1-related disorders in family with personality disorder and frontotemporal dementia
Llamas-Velasco, Sara, Arteche-López, Ana, Méndez-Guerrero, Antonio, Puertas Martín, Verónica, Quesada Espinosa, Juan Francisco, Lezana Rosales, Jose Miguel, González-Sánchez, Marta, Blanco-Palmero, Victor Antonio, Palma Milla, Carmen, Herrero-San Martín, Alejandro, Borrego-Hernández, Daniel, García-Redondo, Alberto, Pérez-Martínez, David Andrés, Villarejo-Galende, Alberto
Published in Amyotrophic lateral sclerosis and frontotemporal degeneration (02.10.2021)
Published in Amyotrophic lateral sclerosis and frontotemporal degeneration (02.10.2021)
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Journal Article
Fragile X Syndrome Caused by Maternal Somatic Mosaicism of IFMR1/I Gene: Case Report and Literature Review
Gómez-Rodríguez, Maria Jose, Morales-Conejo, Montserrat, Arteche-López, Ana, Sánchez-Calvín, Maria Teresa, Quesada-Espinosa, Juan Francisco, Gómez-Manjón, Irene, Palma-Milla, Carmen, Lezana-Rosales, Jose Miguel, Pérez de la Fuente, Ruben, Ma, Fernández-Guijarro, Manuela, Moreno-García, Marta, Alvarez-Mora, Maria Isabel
Published in Genes (01.09.2022)
Published in Genes (01.09.2022)
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Journal Article
First patient with mosaic NOTCH3 gene pathogenic variant. Unrevealed mosaicisms and importance of their detection
Moreno‐García, Marta, Arteche‐López, Ana Rosa, Álvarez‐Mora, María Isabel, Palma Milla, Carmen, Quesada Espinosa, Juan Francisco, Lezana Rosales, José Miguel, Sánchez Calvín, María Teresa, Gómez Manjón, Irene, Gómez Rodríguez, María José, Mendez‐Guerrero, Antonio, Villarejo‐Galende, Alberto
Published in American journal of medical genetics. Part A (01.02.2021)
Published in American journal of medical genetics. Part A (01.02.2021)
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Journal Article
Hereditary cerebral small vessel disease: Assessment of a HTRA1 variant using protein stability predictors and 3D modelling
Hidalgo Mayoral, Irene, Martínez-Salio, Antonio, Llamas-Velasco, Sara, Gómez-Majón, Irene, Arteche-López, Ana, Quesada-Espinosa, Juan Francisco, Palma Milla, Carmen, Lezana Rosales, Jose Miguel, Pérez de la Fuente, Rubén, Juárez Rufián, Alexandra, Sierra Tomillo, Olalla, Sánchez Calvín, Maria Teresa, Gómez Rodríguez, Maria José, Ramos Gómez, Patricia, Villarejo-Galende, Alberto, Díaz-Guzmán, Jaime, Ortega-Casarrubios, Maria Ángeles, Calleja-Castaño, Patricia, Moreno-García, Marta
Published in European journal of medical genetics (01.08.2022)
Published in European journal of medical genetics (01.08.2022)
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