Mutations in PMM2 gene in four unrelated Spanish families with polycystic kidney disease and hyperinsulinemic hypoglycemia
Moreno Macián, Francisca, De Mingo Alemany, Carmen, León Cariñena, Sara, Ortega López, Pedro, Rausell Felix, Dolores, Aparisi Navarro, María, Martinez Matilla, Marina, Cardona Gay, Cristina, Martinez Castellano, Francisco, Albiach Mesado, Vicente
Published in Journal of Pediatric Endocrinology & Metabolism (01.10.2020)
Published in Journal of Pediatric Endocrinology & Metabolism (01.10.2020)
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Chimeric HLA antibody receptor T cells for targeted therapy of antibody‐mediated rejection in transplantation
Betriu, Sergi, Rovira, Jordi, Arana, Carolt, García‐Busquets, Ainhoa, Matilla‐Martinez, Marina, Ramirez‐Bajo, Maria J., Bañon‐Maneus, Elisenda, Lazo‐Rodriguez, Marta, Bartoló‐Ibars, Ariadna, Claas, Frans H. J., Mulder, Arend, Heidt, Sebastiaan, Juan, Manel, Bayés‐Genís, Beatriu, Campistol, Josep M., Palou, Eduard, Diekmann, Fritz
Published in HLA (01.10.2023)
Published in HLA (01.10.2023)
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New mutations found by Next-Generation Sequencing screening of Spanish patients with Nemaline Myopathy
Moreau-Le Lan, Sarah, Aller, Elena, Calabria, Ines, Gonzalez-Tarancon, Lola, Cardona-Gay, Cristina, Martinez-Matilla, Marina, Aparisi, Maria J, Selles, Jorge, Sagath, Lydia, Pitarch, Inmaculada, Muelas, Nuria, Cervera, Jose V, Millan, Jose M, Pedrola, Laia
Published in PloS one (05.12.2018)
Published in PloS one (05.12.2018)
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Homozygous Pro1066Arg MYBPC3 Pathogenic Variant in a 26Mb Region of Homozygosity Associated with Severe Hypertrophic Cardiomyopathy in a Patient of an Apparent Non-Consanguineous Family
Rodríguez-López, Raquel, García-Planells, Javier, Martínez-Matilla, Marina, Pérez-García, Cristian, García Banacloy, Amor, Guzmán Luján, Carola, Zomeño Alcalá, Otilia, Belchi Navarro, Joaquina, Martínez-León, Juan, Salguero-Bodes, Rafael
Published in Life (Basel, Switzerland) (12.07.2022)
Published in Life (Basel, Switzerland) (12.07.2022)
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Arrhythmogenic cardiomyopathy with left ventricular involvement versus ischemic heart disease: lessons learned from the family study and the reviewed autopsy of a young male
Molina, Pilar, Sanz-Sánchez, Jorge, Fenollosa, Manuel, Martínez-Matilla, Marina, Giner, Juan, Zorio, Esther
Published in Forensic sciences research (01.01.2019)
Published in Forensic sciences research (01.01.2019)
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Journal Article
Precision medicine in relapsed or refractory pediatric solid tumors: a collaborative Spanish initiative
Gargallo, Pablo, Font de Mora, Jaime, Berlanga, Pablo, Calabria, Inés, Llavador, Margarita, Pedrola, Laia, Panadero, Joaquín, Dolz, Sandra, Zúñiga, Ángel, Oltra, Juan Silvestre, Escobar, Paloma, Yáñez, Yania, Aparisi, María José, Martinez-Matilla, Marina, Segura, Vanessa, Esquembre, Carlos, Del Cañizo, María, Moreno, María José, Márquez, Catalina, Cañete, Adela, Castel, Victoria
Published in Translational medicine communications (02.07.2019)
Published in Translational medicine communications (02.07.2019)
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Journal Article
Apparent Radiological Improvement in an Infant With Labrune Syndrome Treated With Bevacizumab
Martínez-Matilla, Marina, Ferre-Fernández, Jesús José, Aparisi, María José, Marco-Hernández, Ana Victoria, Cerón, Juan Antonio, Crow, Yanick J., Martínez-Castellano, Francisco, Tomás-Vila, Miguel, Pedrola, Laia
Published in Pediatric neurology (01.11.2020)
Published in Pediatric neurology (01.11.2020)
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Journal Article
Variant in CACNA1G as a Possible Genetic Modifier of Neonatal Epilepsy in an Infant with a De Novo SCN2A Mutation
Nieto-Barcelo, Juan Jose, Gonzalez Montes, Noelia, Gonzalo Alonso, Isabel, Martinez, Francisco, Aparisi, Maria Jose, Martinez-Matilla, Marina, Marco Hernandez, Ana Victoria, Tomás Vila, Miguel
Published in Journal of pediatric genetics (Birmingham, Ala.) (01.06.2023)
Published in Journal of pediatric genetics (Birmingham, Ala.) (01.06.2023)
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Journal Article
Mutations in PMM 2 gene in four unrelated Spanish families with polycystic kidney disease and hyperinsulinemic hypoglycemia
Moreno Macián, Francisca, De Mingo Alemany, Carmen, León Cariñena, Sara, Ortega López, Pedro, Rausell Felix, Dolores, Aparisi Navarro, María, Martinez Matilla, Marina, Cardona Gay, Cristina, Martinez Castellano, Francisco, Albiach Mesado, Vicente
Published in Journal of Pediatric Endocrinology and Metabolism (25.10.2020)
Published in Journal of Pediatric Endocrinology and Metabolism (25.10.2020)
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Journal Article
Variant in CACNA1G as a Possible Genetic Modifier of Neonatal Epilepsy in an Infant with a De Novo SCN2A Mutation
Nieto-Barcelo, Juan Jose, Gonzalez Montes, Noelia, Gonzalo Alonso, Isabel, Martinez, Francisco, Aparisi, Maria Jose, Martinez-Matilla, Marina, Marco Hernandez, Ana Victoria, Tomás Vila, Miguel
Published in Journal of pediatric genetics (01.06.2023)
Published in Journal of pediatric genetics (01.06.2023)
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Homozygous Pro1066Arg MYBPC3 Pathogenic Variant in a 26Mb Region of Homozygosity Associated with Severe Hypertrophic Cardiomyopathy in a Patient of an Apparent Non-Consanguineous Family
Rodríguez-López, Raquel, García-Planells, Javier, Martínez-Matilla, Marina, Pérez-García, Cristian, García Banacloy, Amor, Guzmán Luján, Carola, Zomeño Alcalá, Otilia, Belchi Navarro, Joaquina, Martínez-León, Juan, Salguero-Bodes, Rafael
Published in Life (Basel, Switzerland) (12.07.2022)
Published in Life (Basel, Switzerland) (12.07.2022)
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Arrhythmogenic cardiomyopathy with left ventricular involvement versus ischemic heart disease: lessons learned from the family study and the reviewed autopsy of a young male
Molina, Pilar, Sanz-Sánchez, Jorge, Fenollosa, Manuel, Martínez-Matilla, Marina, Giner, Juan, Zorio, Esther
Published in Forensic Sciences Research: Special Issue on Sudden Cardiac Death; Guest Editor: Joaquín Lucena Romero (03.07.2019)
Published in Forensic Sciences Research: Special Issue on Sudden Cardiac Death; Guest Editor: Joaquín Lucena Romero (03.07.2019)
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Arrhythmogenic cardiomyopathy with left ventricular involvement versus ischemic heart disease: lessons learned from the family study and the reviewed autopsy of a young male
Molina, Pilar, Sanz-Sánchez, Jorge, Fenollosa, Manuel, Martínez-Matilla, Marina, Giner, Juan, Zorio, Esther
Published in Forensic sciences research (01.01.2019)
Published in Forensic sciences research (01.01.2019)
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Apparent Radiological Improvement in an Infant With Labrune Syndrome Treated With Bevacizumab
Martínez-Matilla, Marina, Ferre-Fernández, Jesús José, Aparisi, María José, Marco-Hernández, Ana Victoria, Cerón, Juan Antonio, Crow, Yanick J, Martínez-Castellano, Francisco, Tomás-Vila, Miguel, Pedrola, Laia
Published in Pediatric neurology (01.11.2020)
Published in Pediatric neurology (01.11.2020)
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