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)
Get full text
Journal Article
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)
Get full text
Journal Article
Adult-onset distal spinal muscular atrophy: a new phenotype associated with KIF5A mutations
de Fuenmayor-Fernández de la Hoz, Carlos Pablo, Hernández-Laín, Aurelio, Olivé, Montse, Sánchez-Calvín, María Teresa, Gonzalo-Martínez, Juan Francisco, Domínguez-González, Cristina
Published in Brain (London, England : 1878) (01.12.2019)
Published in Brain (London, England : 1878) (01.12.2019)
Get full text
Journal Article
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)
Get more information
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)
Get full text
Journal Article
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)
Get full text
Journal Article
Epilepsy and Autism spectrum disorder caused by a pathogenic variant in TNRC6B
Bellido-Cuéllar, Sara, Pérez de la Fuente, Rubén, Lezana-Rosales, José Miguel, Sánchez-Calvín, Maria Teresa, Saiz-Díaz, Rosa Ana, González de la Aleja, Jesús
Published in Seizure (London, England) (01.08.2023)
Published in Seizure (London, England) (01.08.2023)
Get full text
Journal Article
A novel de novo variant in CASK causes a severe neurodevelopmental disorder that masks the phenotype of a novel de novo variant in EEF2
Rodríguez-García, María Elena, Cotrina-Vinagre, Francisco Javier, Olson, Alexandra N, Sánchez-Calvin, María Teresa, de Aragón, Ana Martínez, de Las Heras, Rogelio Simón, Dinman, Jonathan D, de Vries, Bert B A, Nabais Sá, Maria João, Quijada-Fraile, Pilar, Martínez-Azorín, Francisco
Published in Journal of human genetics (01.08.2023)
Published in Journal of human genetics (01.08.2023)
Get full text
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)
Get full text
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)
Get full text
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)
Get full text
Journal Article
New genetic mutation associated with Pierson syndrome
Peña-González, Lorena, Guerra-García, Pilar, Sánchez-Calvín, María Teresa, Delgado-Ledesma, Fatima, de Alba-Romero, Concepción
Published in Anales de Pediatría (01.12.2016)
Published in Anales de Pediatría (01.12.2016)
Get full text
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)
Get full text
Journal Article
Correction: A novel de novo variant in CASK causes a severe neurodevelopmental disorder that masks the phenotype of a novel de novo variant in EEF2
Rodríguez-García, María Elena, Cotrina-Vinagre, Francisco Javier, Olson, Alexandra N, Sánchez-Calvin, María Teresa, de Aragón, Ana Martínez, de Las Heras, Rogelio Simón, Dinman, Jonathan D, de Vries, Bert B A, Nabais Sá, Maria João, Quijada-Fraile, Pilar, Martínez-Azorín, Francisco
Published in Journal of human genetics (01.08.2023)
Published in Journal of human genetics (01.08.2023)
Get full text
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)
Get full text
Journal Article
Genetic diagnosis of Duchenne and Becker muscular dystrophy through mRNA analysis: new splicing events
Segarra-Casas, Alba, Domínguez-González, Cristina, Hernández-Laín, Aurelio, Sanchez-Calvin, Maria Teresa, Camacho, Ana, Rivas, Eloy, Campo-Barasoain, Andrea, Madruga, Marcos, Ortez, Carlos, Natera-de Benito, Daniel, Nascimento, Andrés, Codina, Anna, Rodriguez, Maria Jose, Gallano, Pia, Gonzalez-Quereda, Lidia
Published in Journal of medical genetics (01.06.2023)
Published in Journal of medical genetics (01.06.2023)
Get full text
Journal Article
Prioritization of exome variants through an automatic system using HPO terms
Lezana Rosales, José Miguel, Tuñón Le Poultel, Diego, Quesada Espinosa, Juan Francisco, Soengas Gonda, Emma, Arteche-López, Ana, Palma Milla, Carmen, Gómez Manjón, Irene, Álvarez-Mora, María Isabel, Pérez de la Fuente, Rubén, Sánchez Calvín, María Teresa, Gómez Rodríguez, María José, Moreno García, Marta
Published in Revista de Medicina de Laboratorio (2021)
Published in Revista de Medicina de Laboratorio (2021)
Get full text
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)
Get full text
Report