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Year Number of Results
2017 2
2020 3
2021 9
2022 9
2023 9
2024 5

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31 results

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Page 1
Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients.
Martinez-Cayuelas E, Blanco-Kelly F, Lopez-Grondona F, Swafiri ST, Lopez-Rodriguez R, Losada-Del Pozo R, Mahillo-Fernandez I, Moreno B, Rodrigo-Moreno M, Casas-Alba D, Lopez-Gonzalez A, García-Miñaúr S, Ángeles Mori M, Pacio-Minguez M, Rikeros-Orozco E, Santos-Simarro F, Cruz-Rojo J, Quesada-Espinosa JF, Sanchez-Calvin MT, Sanchez-Del Pozo J, Bernado Fonz R, Isidoro-Garcia M, Ruiz-Ayucar I, Alvarez-Mora MI, Blanco-Lago R, De Azua B, Eiris J, Garcia-Peñas JJ, Gil-Fournier B, Gomez-Lado C, Irazabal N, Lopez-Gonzalez V, Madrigal I, Malaga I, Martinez-Menendez B, Ramiro-Leon S, Garcia-Hoyos M, Prieto-Matos P, Lopez-Pison J, Aguilera-Albesa S, Alvarez S, Fernández-Jaén A, Llano-Rivas I, Gener-Querol B, Ayuso C, Arteche-Lopez A, Palomares-Bralo M, Cueto-González A, Valenzuela I, Martinez-Monseny A, Lorda-Sanchez I, Almoguera B. Martinez-Cayuelas E, et al. Among authors: arteche lopez a. J Med Genet. 2023 Jul;60(7):644-654. doi: 10.1136/jmg-2022-108632. Epub 2022 Nov 29. J Med Genet. 2023. PMID: 36446582
Tcf20 deficiency is associated with increased liver fibrogenesis and alterations in mitochondrial metabolism in mice and humans.
Córdoba-Jover B, Ribera J, Portolés I, Lecue E, Rodriguez-Vita J, Pérez-Sisqués L, Mannara F, Solsona-Vilarrasa E, García-Ruiz C, Fernández-Checa JC, Casals G, Rodríguez-Revenga L, Álvarez-Mora MI, Arteche-López A, Díaz de Bustamante A, Calvo R, Pujol A, Azkargorta M, Elortza F, Malagelada C, Pinyol R, Huguet-Pradell J, Melgar-Lesmes P, Jiménez W, Morales-Ruiz M. Córdoba-Jover B, et al. Among authors: arteche lopez a. Liver Int. 2023 Aug;43(8):1822-1836. doi: 10.1111/liv.15640. Epub 2023 Jun 14. Liver Int. 2023. PMID: 37312667
Expanding the clinical and genetic spectrum of SQSTM1-related disorders in family with personality disorder and frontotemporal dementia.
Llamas-Velasco S, Arteche-López A, Méndez-Guerrero A, Puertas Martín V, Quesada Espinosa JF, Lezana Rosales JM, González-Sánchez M, Blanco-Palmero VA, Palma Milla C, Herrero-San Martín A, Borrego-Hernández D, García-Redondo A, Pérez-Martínez DA, Villarejo-Galende A. Llamas-Velasco S, et al. Among authors: arteche lopez a. Amyotroph Lateral Scler Frontotemporal Degener. 2021 Nov;22(7-8):552-560. doi: 10.1080/21678421.2021.1927101. Epub 2021 May 19. Amyotroph Lateral Scler Frontotemporal Degener. 2021. PMID: 34009082 Review.
Expanding the Phenotypic Spectrum of TRAF7-Related Cardiac, Facial, and Digital Anomalies With Developmental Delay: Report of 11 New Cases and Literature Review.
Palma-Milla C, Prat-Planas A, Soengas-Gonda E, Centeno-Pla M, Sánchez-Pozo J, Lazaro-Rodriguez I, Quesada-Espinosa JF, Arteche-Lopez A, Olival J, Pacio-Miguez M, Palomares-Bralo M, Santos-Simarro F, Cancho-Candela R, Vázquez-López M, Seidel V, Martinez-Monseny AF, Casas-Alba D, Grinberg D, Balcells S, Serrano M, Rabionet R, Martin MA, Urreizti R. Palma-Milla C, et al. Among authors: arteche lopez a. Pediatr Neurol. 2024 Jun;155:8-17. doi: 10.1016/j.pediatrneurol.2024.03.008. Epub 2024 Mar 14. Pediatr Neurol. 2024. PMID: 38569228 Review.
Five years' experience of the clinical exome sequencing in a Spanish single center.
Arteche-López A, Ávila-Fernández A, Riveiro Álvarez R, Almoguera B, Bustamante Aragonés A, Martin-Merida I, López Martínez MA, Giménez Pardo A, Vélez-Monsalve C, Gallego Merlo J, García Vara I, Blanco-Kelly F, Tahsin Swafiri S, Lorda Sánchez I, Trujillo Tiebas MJ, Ayuso C. Arteche-López A, et al. Sci Rep. 2022 Nov 10;12(1):19209. doi: 10.1038/s41598-022-23786-6. Sci Rep. 2022. PMID: 36357507 Free PMC article.
Comment on: Soft cerebellar signs unveil RARS2-related epilepsy.
Bellido-Cuéllar S, Arteche-López A, Martín MA, Saiz-Díaz RA, de la Aleja JG. Bellido-Cuéllar S, et al. Among authors: arteche lopez a. Epileptic Disord. 2024 Jun 29. doi: 10.1002/epd2.20258. Online ahead of print. Epileptic Disord. 2024. PMID: 38943518 No abstract available.
SOD1 mutations in adult-onset distal spinal muscular atrophy.
de Fuenmayor-Fernández de la Hoz CP, Hernández-Laín A, Olivé M, Arteche López A, Esteban J, Domínguez-González C. de Fuenmayor-Fernández de la Hoz CP, et al. Among authors: arteche lopez a. Eur J Neurol. 2020 Nov;27(11):e75-e76. doi: 10.1111/ene.14426. Epub 2020 Jul 28. Eur J Neurol. 2020. PMID: 32619288 No abstract available.
Fragile X Syndrome Caused by Maternal Somatic Mosaicism of FMR1 Gene: Case Report and Literature Review.
Gómez-Rodríguez MJ, Morales-Conejo M, Arteche-López A, Sánchez-Calvín MT, Quesada-Espinosa JF, Gómez-Manjón I, Palma-Milla C, Lezana-Rosales JM, Pérez de la Fuente R, Martin-Ramos ML, Fernández-Guijarro M, Moreno-García M, Alvarez-Mora MI. Gómez-Rodríguez MJ, et al. Among authors: arteche lopez a. Genes (Basel). 2022 Sep 8;13(9):1609. doi: 10.3390/genes13091609. Genes (Basel). 2022. PMID: 36140775 Free PMC article. Review.
Adult Pompe disease: Analysis of 13 patients.
Martín-Jiménez P, Bermejo-Guerrero L, Hernandez-Voth A, Arteche-López A, Hernández-Lain A, Rabasa M, Domínguez-González C. Martín-Jiménez P, et al. Among authors: arteche lopez a. Med Clin (Barc). 2024 Aug 17:S0025-7753(24)00399-3. doi: 10.1016/j.medcli.2024.05.022. Online ahead of print. Med Clin (Barc). 2024. PMID: 39155212 English, Spanish.
Adult-onset nemaline myopathy due to a novel homozygous variant in the TNNT1 gene.
Martín-Jiménez P, Fuenmayor-Fernández de la Hoz CP, Hernández-Laín A, Arteche-López A, Quesada-Espinosa JF, Voth AH, Vesperinas A, Olivé M, Domínguez-González C. Martín-Jiménez P, et al. Among authors: arteche lopez a. Muscle Nerve. 2022 Oct;66(4):E13-E15. doi: 10.1002/mus.27678. Epub 2022 Jul 27. Muscle Nerve. 2022. PMID: 35833674 No abstract available.
31 results