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Page 1
Lethal Congenital Contracture Syndrome 11: A Case Report and Literature Review.
Potrony M, Borrell A, Masoller N, Nadal A, Rodriguez-Carunchio L, Saez de Gordoa Elizalde K, Quesada-Espinosa JF, Villanueva-Cañas JL, Pauta M, Jodar M, Madrigal I, Badenas C, Alvarez-Mora MI, Rodriguez-Revenga L. Potrony M, et al. J Clin Med. 2022 Jun 21;11(13):3570. doi: 10.3390/jcm11133570. J Clin Med. 2022. PMID: 35806855 Free PMC article.
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. Genes (Basel). 2022 Sep 8;13(9):1609. doi: 10.3390/genes13091609. Genes (Basel). 2022. PMID: 36140775 Free PMC article. Review.
Heterozygous and Homozygous Variants in SORL1 Gene in Alzheimer's Disease Patients: Clinical, Neuroimaging and Neuropathological Findings.
Alvarez-Mora MI, Blanco-Palmero VA, Quesada-Espinosa JF, Arteche-Lopez AR, Llamas-Velasco S, Palma Milla C, Lezana Rosales JM, Gomez-Manjon I, Hernandez-Lain A, Jimenez Almonacid J, Gil-Fournier B, Ramiro-León S, González-Sánchez M, Herrero-San Martín AO, Pérez-Martínez DA, Gómez-Tortosa E, Carro E, Bartolomé F, Gomez-Rodriguez MJ, Sanchez-Calvin MT, Villarejo-Galende A, Moreno-Garcia M. Alvarez-Mora MI, et al. Int J Mol Sci. 2022 Apr 11;23(8):4230. doi: 10.3390/ijms23084230. Int J Mol Sci. 2022. PMID: 35457051 Free PMC article.
First patient with mosaic NOTCH3 gene pathogenic variant. Unrevealed mosaicisms and importance of their detection.
Moreno-García M, Arteche-López AR, Álvarez-Mora MI, Palma Milla C, Quesada Espinosa JF, Lezana Rosales JM, Sánchez Calvín MT, Gómez Manjón I, Gómez Rodríguez MJ, Mendez-Guerrero A, Villarejo-Galende A. Moreno-García M, et al. Am J Med Genet A. 2021 Feb;185(2):591-595. doi: 10.1002/ajmg.a.61999. Epub 2020 Dec 11. Am J Med Genet A. 2021. PMID: 33305890
Towards a Change in the Diagnostic Algorithm of Autism Spectrum Disorders: Evidence Supporting Whole Exome Sequencing as a First-Tier Test.
Arteche-López A, Gómez Rodríguez MJ, Sánchez Calvin MT, Quesada-Espinosa JF, Lezana Rosales JM, Palma Milla C, Gómez-Manjón I, Hidalgo Mayoral I, Pérez de la Fuente R, Díaz de Bustamante A, Darnaude MT, Gil-Fournier B, Ramiro León S, Ramos Gómez P, Sierra Tomillo O, Juárez Rufián A, Arranz Cano MI, Villares Alonso R, Morales-Pérez P, Segura-Tudela A, Camacho A, Nuñez N, Simón R, Moreno-García M, Alvarez-Mora MI. Arteche-López A, et al. Genes (Basel). 2021 Apr 12;12(4):560. doi: 10.3390/genes12040560. Genes (Basel). 2021. PMID: 33921431 Free PMC article.
First female with Allan-Herndon-Dudley syndrome and partial deletion of X-inactivation center.
Quesada-Espinosa JF, Garzón-Lorenzo L, Lezana-Rosales JM, Gómez-Rodríguez MJ, Sánchez-Calvin MT, Palma-Milla C, Gómez-Manjón I, Hidalgo-Mayoral I, Pérez de la Fuente R, Arteche-López A, Álvarez-Mora MI, Camacho-Salas A, Cruz-Rojo J, Lázaro-Rodríguez I, Morales-Conejo M, Nuñez-Enamorado N, Bustamante-Aragones A, Simón de Las Heras R, Gomez-Cano MA, Ramos-Gómez P, Sierra-Tomillo O, Juárez-Rufián A, Gallego-Merlo J, Rausell-Sánchez L, Moreno-García M, Sánchez Del Pozo J. Quesada-Espinosa JF, et al. Neurogenetics. 2021 Oct;22(4):343-346. doi: 10.1007/s10048-021-00660-7. Epub 2021 Jul 23. Neurogenetics. 2021. PMID: 34296368
Biallelic variants in genes previously associated with dominant inheritance: CACNA1A, RET and SLC20A2.
Arteche-López A, Álvarez-Mora MI, Sánchez Calvin MT, Lezana Rosales JM, Palma Milla C, Gómez Rodríguez MJ, Gomez Manjón I, Blázquez A, Juarez Rufián A, Ramos Gómez P, Sierra Tomillo O, Hidalgo Mayoral I, Pérez de la Fuente R, Posada Rodríguez IJ, González Granado LI, Martin MA, Quesada-Espinosa JF, Moreno-García M. Arteche-López A, et al. Eur J Hum Genet. 2021 Oct;29(10):1520-1526. doi: 10.1038/s41431-021-00919-5. Epub 2021 Jul 15. Eur J Hum Genet. 2021. PMID: 34267336 Free PMC article.
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.
Arteche-López A, Avila-Fernandez A, Damian A, Soengas-Gonda E, de la Fuente RP, Gómez PR, Merlo JG, Burgos LH, Fernández CC, Rosales JML, Martínez JFG, Quesada-Espinosa JF, Corton M, Guerrero-Molina MP. Arteche-López A, et al. Clin Genet. 2023 Feb;103(2):236-241. doi: 10.1111/cge.14249. Epub 2022 Nov 3. Clin Genet. 2023. PMID: 36250766
Novel Germline TET2 Mutations in Two Unrelated Patients with Autoimmune Lymphoproliferative Syndrome-Like Phenotype and Hematologic Malignancy.
López-Nevado M, Ortiz-Martín J, Serrano C, Pérez-Saez MA, López-Lorenzo JL, Gil-Etayo FJ, Rodríguez-Frías E, Cabrera-Marante O, Morales-Pérez P, Rodríguez-Pinilla MS, Manso R, Salgado-Sánchez RN, Cerdá-Montagud A, Quesada-Espinosa JF, Gómez-Rodríguez MJ, Paz-Artal E, Muñoz-Calleja C, Arranz-Sáez R, Allende LM. López-Nevado M, et al. J Clin Immunol. 2023 Jan;43(1):165-180. doi: 10.1007/s10875-022-01361-y. Epub 2022 Sep 6. J Clin Immunol. 2023. PMID: 36066697
Alström syndrome: Two clinical cases with two novel pathogenic variants.
Herranz-Heras JC, Barceló A, Quesada-Espinosa JF, Dorado-Lopez-Rosado AM, Tejada-Palacios P, Muñoz-Gallego A. Herranz-Heras JC, et al. Eur J Ophthalmol. 2023 Jul;33(4):NP27-NP31. doi: 10.1177/11206721221123782. Epub 2022 Sep 13. Eur J Ophthalmol. 2023. PMID: 36112829
27 results