Search Results - "Lezana Rosales, Jose Miguel"

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 by 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

“…The biallelic pathogenic repeat (AAGGG)400–2000 intronic expansion in the RFC1 gene has been recently described as the cause of cerebellar ataxia, neuropathy,…”
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First patient with mosaic NOTCH3 gene pathogenic variant. Unrevealed mosaicisms and importance of their detection by 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

“…Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is an inherited small vessel disease caused predominantly…”
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Neurofibromatosis type I: mutation spectrum of NF1 in spanish patients by Palma Milla, Carmen, Lezana Rosales, José Miguel, López Montiel, Javier, Andrés Garrido, Lucas David, Sánchez Linares, Carlos, Carmona Tamajón, Sandra, Torres Fernández, Carmen, Sánchez González, Pablo, Franco Freire, Sara, Benito López, Carmen, López Siles, Juan

“…Neurofibromatosis type I (NF1) is one of the most common genetic disorders in humans. NF1, a tumor predisposition syndrome, is caused by heterozygous…”
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Characterization of gut microbiota composition in HIV-infected patients with metabolic syndrome by Villanueva-Millán, María Jesús, Pérez-Matute, Patricia, Recio-Fernández, Emma, Lezana Rosales, José-Miguel, Oteo, José-Antonio

“…The presence of metabolic syndrome (MS) per se or its separated components in HIV-infected patients contributes to an accelerated aging and increased…”
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Epilepsy and Autism spectrum disorder caused by a pathogenic variant in TNRC6B by 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

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Towards a Change in the Diagnostic Algorithm of Autism Spectrum Disorders: Evidence Supporting Whole Exome Sequencing as a First-Tier Test by 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

“…Autism spectrum disorder (ASD) is a prevalent and extremely heterogeneous neurodevelopmental disorder (NDD) with a strong genetic component. In recent years,…”
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Expanding the Phenotypic Spectrum of Alazami Syndrome: Two Unrelated Spanish Families by 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

“…Alazami syndrome is a rare disorder with an autosomal recessive inheritance caused by pathogenic biallelic variants in the gene. Clinically, it is mainly…”
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Early-Onset Dementia Associated with a Heterozygous, Nonsense, and de novo Variant in the MBD5 Gene by 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

“…The haploinsufficiency of the methyl-binding domain protein 5 (MBD5) gene has been identified as the determinant cause of the neuropsychiatric disorders…”
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Hyperinsulinemic hypoglycemia in a patient with an intragenic NSD1 mutation by Carrasco Salas, Pilar, Palma Milla, Carmen, Lezana Rosales, José Miguel, Benito, Carmen, Franco Freire, Sara, López Siles, Juan

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Fragile X Syndrome Caused by Maternal Somatic Mosaicism of FMR1 Gene: Case Report and Literature Review by 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

“…Fragile X syndrome (FXS) is caused by an abnormal expansion of the number of trinucleotide CGG repeats located in the 5′ UTR in the first exon of the FMR1…”
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Cystic phenotype and chronic kidney disease in autosomal dominant Alport syndrome by Bada-Bosch, Teresa, Sevillano, Angel M, Sánchez-Calvin, María Teresa, Palma-Milla, Carmen, Alba de Cáceres, Ignacio, Díaz-Crespo, Francisco, Trujillo, Hernando, Alonso, Marina, Cases-Corona, Clara, Shabaka, Amir, Quesada-Espinosa, Juan Francisco, Lezana-Rosales, José Miguel, Gutiérrez, Eduardo, Fernández-Juárez, Gema, Caravaca-Fontán, Fernando, Praga, Manuel

“…Autosomal dominant Alport Syndrome (ADAS), also known as thin basement membrane disease (TBMD), is caused by pathogenic variants in the COL4A3 and COL4A4…”
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Heterozygous and Homozygous Variants in SORL1 Gene in Alzheimer's Disease Patients: Clinical, Neuroimaging and Neuropathological Findings by 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

“…In the last few years, the SORL1 gene has been strongly implicated in the development of Alzheimer’s disease (AD). We performed whole-exome sequencing on 37…”
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Expanding the clinical and genetic spectrum of SQSTM1-related disorders in family with personality disorder and frontotemporal dementia by 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

“…Objective: SQSTM1-variants associated with frontotemporal lobar degeneration have been described recently. In this study, we investigated a heterozygous…”
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Fragile X Syndrome Caused by Maternal Somatic Mosaicism of IFMR1/I Gene: Case Report and Literature Review by 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

“…Fragile X syndrome (FXS) is caused by an abnormal expansion of the number of trinucleotide CGG repeats located in the 5′ UTR in the first exon of the FMR1…”
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Hereditary cerebral small vessel disease: Assessment of a HTRA1 variant using protein stability predictors and 3D modelling by 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

“…Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL) is an autosomal recessive vascular disorder caused by…”
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Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice by Sheppard, Sarah E, Bryant, Laura, Wickramasekara, Rochelle N, Vaccaro, Courtney, Robertson, Brynn, Hallgren, Jodi, Hulen, Jason, Watson, Cynthia J, Faundes, Victor, Duffourd, Yannis, Lee, Pearl, Simon, M Celeste, de la Cruz, Xavier, Padilla, Natália, Flores-Mendez, Marco, Akizu, Naiara, Smiler, Jacqueline, Pellegrino Da Silva, Renata, Li, Dong, March, Michael, Diaz-Rosado, Abdias, Peixoto de Barcelos, Isabella, Choa, Zhao Xiang, Lim, Chin Yan, Dubourg, Christèle, Journel, Hubert, Demurger, Florence, Mulhern, Maureen, Akman, Cigdem, Lippa, Natalie, Andrews, Marisa, Baldridge, Dustin, Constantino, John, van Haeringen, Arie, Snoeck-Streef, Irina, Chow, Penny, Hing, Anne, Graham, Jr, John M, Au, Margaret, Faivre, Laurence, Shen, Wei, Mao, Rong, Palumbos, Janice, Viskochil, David, Gahl, William, Tifft, Cynthia, Macnamara, Ellen, Hauser, Natalie, Miller, Rebecca, Maffeo, Jessica, Afenjar, Alexandra, Doummar, Diane, Keren, Boris, Arn, Pamela, Macklin-Mantia, Sarah, Meerschaut, Ilse, Callewaert, Bert, Reis, André, Zweier, Christiane, Brewer, Carole, Saggar, Anand, Smeland, Marie F, Kumar, Ajith, Elmslie, Frances, Deshpande, Charu, Nizon, Mathilde, Cogne, Benjamin, van Ierland, Yvette, Wilke, Martina, van Slegtenhorst, Marjon, Koudijs, Suzanne, Chen, Jin Yun, Dredge, David, Pier, Danielle, Wortmann, Saskia, Kamsteeg, Erik-Jan, Koch, Johannes, Haynes, Devon, Pollack, Lynda, Titheradge, Hannah, Ranguin, Kara, Denommé-Pichon, Anne-Sophie, Weber, Sacha, Pérez de la Fuente, Rubén, Sánchez Del Pozo, Jaime, Lezana Rosales, Jose Miguel, Joset, Pascal, Steindl, Katharina, Rauch, Anita, Mei, Davide, Mari, Francesco, Guerrini, Renzo, Lespinasse, James, Tran Mau-Them, Frédéric, Philippe, Christophe, Dauriat, Benjamin, Raymond, Laure, Moutton, Sébastien, Cueto-González, Anna M, Tan, Tiong Yang

“…Pathogenic variants in , a lysine methyltransferase, are associated with global developmental delay, macrocephaly, autism, and congenital anomalies (OMIM…”
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A novel mutation in the β-spectrin gene causes the activation of a cryptic 5′-splice site and the creation of a de novo 3′-splice site by Salas, Pilar Carrasco, Rosales, José Miguel Lezana, Milla, Carmen Palma, Montiel, Javier López, Siles, Juan López

“…The analysis of genes involved in hereditary spherocytosis, by next-generation sequencing in two patients with clinical diagnosis of the disease, showed the…”
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A novel mutation in the [beta]-spectrin gene causes the activation of a cryptic 5'-splice site and the creation of a de novo 3'-splice site by Salas, Pilar Carrasco, Rosales, José Miguel Lezana, Milla, Carmen Palma, Montiel, Javier López, Siles, Juan López

“…The analysis of genes involved in hereditary spherocytosis, by next-generation sequencing in two patients with clinical diagnosis of the disease, showed the…”
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Heterozygous and Homozygous Variants in SORL1 Gene in Alzheimer's Disease Patients: Clinical, Neuroimaging and Neuropathological Findings by 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

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First patient with mosaic NOTCH3 gene pathogenic variant. Unrevealed mosaicisms and importance of their detection by 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

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