Search Results - "Arteche, Ana"

Comment on: Soft cerebellar signs unveil RARS2‐related epilepsy by Bellido‐Cuéllar, Sara, Arteche‐López, Ana, Martín, Miguel A., Saiz‐Díaz, Rosa Ana, Aleja, Jesús González

Get full text

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,…”
Get full text

Adult‐onset nemaline myopathy due to a novel homozygous variant in the TNNT1 gene by 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

Get full text

Toward the Mutational Landscape of Autosomal Dominant Retinitis Pigmentosa: A Comprehensive Analysis of 258 Spanish Families by Martin-Merida, Inmaculada, Aguilera-Garcia, Domingo, Fernandez-San, Jose P, Blanco-Kelly, Fiona, Zurita, Olga, Almoguera, Berta, Garcia-Sandoval, Blanca, Avila-Fernandez, Almudena, Arteche, Ana, Minguez, Pablo, Carballo, Miguel, Corton, Marta, Ayuso, Carmen

“…To provide a comprehensive overview of the molecular basis of autosomal dominant retinitis pigmentosa (adRP) in Spanish families. Thus, we established the…”
Get full text

Comparison of the diagnostic yield of aCGH and genome-wide sequencing across different neurodevelopmental disorders by Martinez-Granero, Francisco, Blanco-Kelly, Fiona, Sanchez-Jimeno, Carolina, Avila-Fernandez, Almudena, Arteche, Ana, Bustamante-Aragones, Ana, Rodilla, Cristina, Rodríguez-Pinilla, Elvira, Riveiro-Alvarez, Rosa, Tahsin-Swafiri, Saoud, Trujillo-Tiebas, Maria Jose, Ayuso, Carmen, Rodríguez de Alba, Marta, Lorda-Sanchez, Isabel, Almoguera, Berta

“…Most consensus recommendations for the genetic diagnosis of neurodevelopmental disorders (NDDs) do not include the use of next generation sequencing (NGS) and…”
Get full text

Novel PXDN biallelic variants in patients with microphthalmia and anterior segment dysgenesis by Zazo-Seco, Celia, Plaisancié, Julie, Bitoun, Pierre, Corton, Marta, Arteche, Ana, Ayuso, Carmen, Schneider, Adele, Zafeiropoulou, Dimitra, Gilissen, Christian, Roche, Olivier, Frémont, Felix, Calvas, Patrick, Slavotinek, Anne, Ragge, Nicola, Chassaing, Nicolas

“…Microphthalmia, anophthalmia, and anterior segment dysgenesis are severe ocular developmental defects. There is a wide genetic heterogeneity leading to these…”
Get full text

SOD1 mutations in adult‐onset distal spinal muscular atrophy by de Fuenmayor‐Fernández de la Hoz, Carlos Pablo, Hernández‐Laín, Aurelio, Olivé, Montse, Arteche López, Ana, Esteban, Jesús, Domínguez‐González, Cristina

Get full text

Tcf20 deficiency is associated with increased liver fibrogenesis and alterations in mitochondrial metabolism in mice and humans by Córdoba‐Jover, Bernat, Ribera, Jordi, Portolés, Irene, Lecue, Elena, Rodriguez‐Vita, Juan, Pérez‐Sisqués, Leticia, Mannara, Francesco, Solsona‐Vilarrasa, Estel, García‐Ruiz, Carmen, Fernández‐Checa, José C., Casals, Gregori, Rodríguez‐Revenga, Laia, Álvarez‐Mora, María Isabel, Arteche‐López, Ana, Díaz de Bustamante, Aranzazu, Calvo, Rosa, Pujol, Anna, Azkargorta, Mikel, Elortza, Felix, Malagelada, Cristina, Pinyol, Roser, Huguet‐Pradell, Júlia, Melgar‐Lesmes, Pedro, Jiménez, Wladimiro, Morales‐Ruiz, Manuel

“…Background & Aims Transcription co‐activator factor 20 (TCF20) is a regulator of transcription factors involved in extracellular matrix remodelling. In…”
Get full text

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…”
Get full text

Prioritizing variants of uncertain significance for reclassification using a rule-based algorithm in inherited retinal dystrophies by Iancu, Ionut-Florin, Avila-Fernandez, Almudena, Arteche, Ana, Trujillo-Tiebas, Maria Jose, Riveiro-Alvarez, Rosa, Almoguera, Berta, Martin-Merida, Inmaculada, Del Pozo-Valero, Marta, Perea-Romero, Irene, Corton, Marta, Minguez, Pablo, Ayuso, Carmen

“…Inherited retinal dystrophies (IRD) are a highly heterogeneous group of rare diseases with a molecular diagnostic rate of >50%. Reclassification of variants of…”
Get full text

Genomic Landscape of Sporadic Retinitis Pigmentosa by Martin-Merida, Inmaculada, Avila-Fernandez, Almudena, Del Pozo-Valero, Marta, Blanco-Kelly, Fiona, Zurita, Olga, Perez-Carro, Raquel, Aguilera-Garcia, Domingo, Riveiro-Alvarez, Rosa, Arteche, Ana, Trujillo-Tiebas, Maria Jose, Tahsin-Swafiri, Saoud, Rodriguez-Pinilla, Elvira, Lorda-Sanchez, Isabel, Garcia-Sandoval, Blanca, Corton, Marta, Ayuso, Carmen

“…We aimed to unravel the molecular basis of sporadic retinitis pigmentosa (sRP) in the largest cohort reported to date. Case series. A cohort of 877 unrelated…”
Get full text

A novel MLIP truncating variant in an 80-year-old patient with late-onset progressive weakness by Bermejo-Guerrero, Laura, Arteche-López, Ana, de Fuenmayor Fernández de la Hoz, Carlos, Hernández-Laín, Aurelio, Martín, Miguel A, Domínguez-González, Cristina

Get full text

Distal myopathy due to digenic inheritance of TIA1 and SQSTM1 variants in two unrelated Spanish patients by Bermejo-Guerrero, Laura, de Fuenmayor Fernández-de la Hoz, Carlos Pablo, González-Quereda, Lidia, Segarra-Casas, Alba, Nedkova, Velina, Gallano, Pia, Martín-Jiménez, Paloma, Hernández-Laín, Aurelio, Olivé, Montse, Arteche-López, Ana, Domínguez-González, Cristina

“…Welander distal myopathy typically manifests in late adulthood and is caused by the founder TIA1 c.1150G>A (p.Glu384Lys) variant in families of Swedish and…”
Get full text

Expanding the genetic and phenotypic spectrum of congenital myasthenic syndrome: new homozygous VAMP1 splicing variants in 2 novel individuals by Cotrina-Vinagre, Francisco Javier, Rodríguez-García, María Elena, Del Pozo-Filíu, Lucía, Hernández-Laín, Aurelio, Arteche-López, Ana, Morte, Beatriz, Sevilla, Marta, Pérez-Jurado, Luis Alberto, Quijada-Fraile, Pilar, Camacho, Ana, Martínez-Azorín, Francisco

“…We report the cases of two Spanish pediatric patients with hypotonia, muscle weakness and feeding difficulties at birth. Whole-exome sequencing (WES) uncovered…”
Get full text

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…”
Get more information

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…”
Get more information

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…”
Get full text

Integration of Phenotype Term Prioritization and Gene Expression Analysis Reveals a Novel Variant in the PERP Gene Associated with Autosomal Recessive Erythrokeratoderma by González-Quintana, Adrián, Garrido-Moraga, Rocío, Palencia-Pérez, Sara I, Hernández-Martín, Ángela, Sánchez-Munárriz, Jon, Lezana-Rosales, José M, Quesada-Espinosa, Juan F, Martín, Miguel A, Arteche-López, Ana

“…Hereditary palmoplantar keratodermas (PPKs) are a clinically and genetically heterogeneous group of disorders characterized by excessive epidermal thickening…”
Get full text

First female with Allan-Herndon-Dudley syndrome and partial deletion of X-inactivation center by Quesada-Espinosa, Juan F., Garzón-Lorenzo, Lucía, Lezana-Rosales, José M., Gómez-Rodríguez, María J., Sánchez-Calvin, María T., Palma-Milla, Carmen, Gómez-Manjón, Irene, Hidalgo-Mayoral, Irene, Pérez de la Fuente, Rubén, Arteche-López, Ana, Álvarez-Mora, María I., Camacho-Salas, Ana, Cruz-Rojo, Jaime, Lázaro-Rodríguez, Irene, Morales-Conejo, Montserrat, Nuñez-Enamorado, Noemí, Bustamante-Aragones, Ana, Simón de las Heras, Rogelio, Gomez-Cano, María A., Ramos-Gómez, Patricia, Sierra-Tomillo, Ollalla, Juárez-Rufián, Alexandra, Gallego-Merlo, Jesús, Rausell-Sánchez, Laura, Moreno-García, Marta, Sánchez del Pozo, Jaime

“…Allan-Herndon-Dudley is an X-linked recessive syndrome caused by pathogenic variants in the SLC16A2 gene. Clinical manifestations are a consequence of impaired…”
Get full text

A Novel Pathogenic Variant in the MN1 Gene in a Patient Presenting with Rhombencephalosynapsis and Craniofacial Anomalies, Expanding MN1 C-terminal Truncation Syndrome by Palma Milla, Carmen, Patricia, Pérez Mohand, Lezana, José M, Cruz, Jaime, Quesada, Juan F, Vila, Sara, Álvarez-Mora, Isabel, Arteche-López, Ana, Gómez-Manjón, Irene, Sánchez, M Teresa, Gómez-Rodríguez, Maria José, Sánchez, Jaime, Moreno-García, Marta

“…Meningioma-1 is a transcription activator that regulates mammalian palate development and is required for appropriate osteoblast proliferation, motility,…”
Get full text