Zobrazeno 1 - 10
of 28
pro vyhledávání: '"Ana, Arteche"'
Autor:
Francisco Martinez-Granero, Fiona Blanco-Kelly, Carolina Sanchez-Jimeno, Almudena Avila-Fernandez, Ana Arteche, Ana Bustamante-Aragones, Cristina Rodilla, Elvira Rodríguez-Pinilla, Rosa Riveiro-Alvarez, Saoud Tahsin-Swafiri, Maria Jose Trujillo-Tiebas, Carmen Ayuso, Marta Rodríguez de Alba, Isabel Lorda-Sanchez, Berta Almoguera
Publikováno v:
npj Genomic Medicine, Vol 6, Iss 1, Pp 1-12 (2021)
Abstract Most consensus recommendations for the genetic diagnosis of neurodevelopmental disorders (NDDs) do not include the use of next generation sequencing (NGS) and are still based on chromosomal microarrays, such as comparative genomic hybridizat
Externí odkaz:
https://doaj.org/article/60825b0a88124fa993f8c183177a345c
Autor:
Ionut-Florin Iancu, Almudena Avila-Fernandez, Ana Arteche, Maria Jose Trujillo-Tiebas, Rosa Riveiro-Alvarez, Berta Almoguera, Inmaculada Martin-Merida, Marta Del Pozo-Valero, Irene Perea-Romero, Marta Corton, Pablo Minguez, Carmen Ayuso
Publikováno v:
npj Genomic Medicine, Vol 6, Iss 1, Pp 1-9 (2021)
Abstract Inherited retinal dystrophies (IRD) are a highly heterogeneous group of rare diseases with a molecular diagnostic rate of >50%. Reclassification of variants of uncertain significance (VUS) poses a challenge for IRD diagnosis. We collected 66
Externí odkaz:
https://doaj.org/article/720741e99c944b1c8ee4d0d7b5c84e84
Autor:
Ana Arteche‐López, Almudena Avila‐Fernandez, Alejandra Damian, Emma Soengas‐Gonda, Rubén Pérez de la Fuente, Patricia Ramos Gómez, Jesús Gallego Merlo, Laura Horcajada Burgos, Carlos Cemillán Fernández, Jose Miguel Lezana Rosales, Juan Francisco González Martínez, Juan Francisco Quesada‐Espinosa, Marta Corton, Maria Paz Guerrero‐Molina
Publikováno v:
Clinical Genetics. 103:236-241
The biallelic pathogenic repeat (AAGGG)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6c4e13b922bf2a0416589dcc09c8c7e6
https://doi.org/10.1111/cge.14249
https://doi.org/10.1111/cge.14249
Autor:
Laura Bermejo-Guerrero, Ana Arteche-López, Carlos de Fuenmayor Fernández de la Hoz, Aurelio Hernández-Laín, Miguel A Martín, Cristina Domínguez-González
Publikováno v:
Brain. 145:e99-e102
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::2a4a18b83d6e7e3591cd0f4bd1cebba3
https://doi.org/10.1093/brain/awac286
https://doi.org/10.1093/brain/awac286
Autor:
Emma Soengas-Gonda, Rubén Pérez de la Fuente, Ana Arteche-López, María de los Ángeles Gómez-Cano, Juan Francisco Quesada-Espinosa, Carmen Palma Milla, José Miguel Lezana Rosales, Sonia Mayo de Andrés, María Teresa Sánchez-Calvín, María José Gómez-Rodríguez, Olalla Sierra Tomillo, Alexandra Juarez Rufian, Patricia Ramos Gomez, Clara Herrero-Forte, Maria Fenollar-Cortés, Carmen Cotarelo-Pérez, Adrián García Ron, Olga Pérez Rodríguez, Raluca Oancea-Ionescu, Marta Moreno-García
Publikováno v:
Neuropediatrics.
Alazami syndrome is a rare disorder with an autosomal recessive inheritance caused by pathogenic biallelic variants in the LARP7 gene. Clinically, it is mainly characterized by short stature, intellectual disability, and dysmorphic facial features. H
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2a1b289f1210577d267a2c7359c7d26a
https://pubmed.ncbi.nlm.nih.gov/36126956
https://pubmed.ncbi.nlm.nih.gov/36126956
Autor:
Paloma Martín‐Jiménez, Carlos Pablo de Fuenmayor‐Fernández de la Hoz, Aurelio Hernández‐Laín, Ana Arteche‐López, Juan Francisco Quesada‐Espinosa, Ana Hernández Voth, Ana Vesperinas, Montse Olivé, Cristina Domínguez‐González
Publikováno v:
Musclenerve. 66(4)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a8a9892d7643e6eaa0a2df07bebc1438
https://pubmed.ncbi.nlm.nih.gov/35833674
https://pubmed.ncbi.nlm.nih.gov/35833674
Autor:
Marta González-Sánchez, Antonio Mendez-Guerrero, Alejandro Herrero-San Martín, David A Pérez-Martínez, Juan Francisco Quesada Espinosa, Alberto García-Redondo, Daniel Borrego-Hernández, Sara Llamas-Velasco, Ana Arteche-López, José Miguel Lezana Rosales, Víctor Antonio Blanco-Palmero, Verónica Puertas Martín, Carmen Palma Milla, Alberto Villarejo-Galende
Publikováno v:
Re-Unir. Archivo Institucional de la Universidad Internacional de La Rioja
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Objective:SQSTM1-variants associated with frontotemporal lobar degeneration have been described recently. In this study, we investigated a heterozygous in-frame duplication c.436_462dup p. (Pro146_Cys154dup) in the SQSTM1 gene in a family with a new
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::958d1027f15f7635df895ab947b0f1f0
https://doi.org/10.1080/21678421.2021.1927101
https://doi.org/10.1080/21678421.2021.1927101
Autor:
Mariana I. Muñoz-García, María Paz Guerrero-Molina, Carlos Pablo de Fuenmayor-Fernández de la Hoz, Laura Bermejo-Guerrero, Ana Arteche-López, Aurelio Hernández-Laín, Miguel A. Martín, Cristina Domínguez-González
Publikováno v:
Journal of Clinical Medicine; Volume 12; Issue 9; Pages: 3308
Background: Congenital myasthenic syndromes (CMSs) and primary mitochondrial myopathies (PMMs) can present with ptosis, external ophthalmoplegia, and limb weakness. Methods: Our method involved the description of three cases of CMS that were initiall
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::41f208db2e6a2516c09eb9576754dd6a
https://doi.org/10.3390/jcm12093308
https://doi.org/10.3390/jcm12093308
Autor:
María Teresa Sánchez Calvín, José Miguel Lezana Rosales, Antonio Mendez-Guerrero, Irene Gómez Manjón, María José Gómez Rodríguez, Marta Moreno-García, Alberto Villarejo-Galende, Maria Isabel Alvarez-Mora, Juan Francisco Quesada Espinosa, Ana Arteche-López, Carmen Palma Milla
Publikováno v:
American Journal of Medical Genetics Part A. 185:591-595
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f3c49380f8d6bf0ba7a675bd70ef3100
https://doi.org/10.1002/ajmg.a.61999
https://doi.org/10.1002/ajmg.a.61999
Autor:
Elena Martinez-Cayuelas, Fiona Blanco-Kelly, Fermina Lopez-Grondona, Saoud Tahsin Swafiri, Rosario Lopez-Rodriguez, Rebeca Losada-Del Pozo, Ignacio Mahillo-Fernandez, Beatriz Moreno, Maria Rodrigo-Moreno, Didac Casas-Alba, Aitor Lopez-Gonzalez, Sixto García-Miñaúr, Maria Ángeles Mori, Marta Pacio-Minguez, Emi Rikeros-Orozco, Fernando Santos-Simarro, Jaime Cruz-Rojo, Juan Francisco Quesada-Espinosa, Maria Teresa Sanchez-Calvin, Jaime Sanchez-del Pozo, Raquel Bernado Fonz, Maria Isidoro-Garcia, Irene Ruiz-Ayucar, Maria Isabel Alvarez-Mora, Raquel Blanco-Lago, Begoña De Azua, Jesus Eiris, Juan Jose Garcia-Peñas, Belen Gil-Fournier, Carmen Gomez-Lado, Nadia Irazabal, Vanessa Lopez-Gonzalez, Irene Madrigal, Ignacio Malaga, Beatriz Martinez-Menendez, Soraya Ramiro-Leon, Maria Garcia-Hoyos, Pablo Prieto-Matos, Javier Lopez-Pison, Sergio Aguilera-Albesa, Sara Alvarez, Alberto Fernández-Jaén, Isabel Llano-Rivas, Blanca Gener-Querol, Carmen Ayuso, Ana Arteche-Lopez, Maria Palomares-Bralo, Anna Cueto-González, Irene Valenzuela, Antonio Martinez-Monseny, Isabel Lorda-Sanchez, Berta Almoguera
SUMMARYBackgroundKBG syndrome is a highly variable neurodevelopmental disorder and clinical diagnostic criteria have changed as new patients have been published. Both loss-of-function sequence variants and large deletions (CNVs) involving ANKRD11 hav
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::772e2630b0edef5f7aa24d37fceea547
https://doi.org/10.1101/2022.04.11.22271283
https://doi.org/10.1101/2022.04.11.22271283
