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Page 1
Genetic diagnosis of childhood sensorineural hearing loss.
Reda Del Barrio S, García Fernández A, Quesada-Espinosa JF, Sánchez-Calvín MT, Gómez-Manjón I, Sierra-Tomillo O, Juárez-Rufián A, de Vergas Gutiérrez J. Reda Del Barrio S, et al. Among authors: gomez manjon i. Acta Otorrinolaringol Esp (Engl Ed). 2024 Mar-Apr;75(2):83-93. doi: 10.1016/j.otoeng.2023.07.002. Epub 2024 Jan 13. Acta Otorrinolaringol Esp (Engl Ed). 2024. PMID: 38224868
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: gomez manjon i. Genes (Basel). 2022 Sep 8;13(9):1609. doi: 10.3390/genes13091609. Genes (Basel). 2022. PMID: 36140775 Free PMC article. Review.
Diagnostic yield of genetic testing in adults with sensorineural hearing loss.
Reda Del Barrio S, de Vergas Gutiérrez J, Quesada-Espinosa JF, Sánchez-Calvín MT, Gómez-Manjón I, Sierra-Tomillo O, Juárez-Rufián A, Fernández AG. Reda Del Barrio S, et al. Among authors: gomez manjon i. Acta Otorrinolaringol Esp (Engl Ed). 2024 Feb 10:S2173-5735(24)00026-7. doi: 10.1016/j.otoeng.2023.10.007. Online ahead of print. Acta Otorrinolaringol Esp (Engl Ed). 2024. PMID: 38346493
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. Among authors: gomez manjon i. Neurogenetics. 2021 Oct;22(4):343-346. doi: 10.1007/s10048-021-00660-7. Epub 2021 Jul 23. Neurogenetics. 2021. PMID: 34296368
A Novel Pathogenic Variant in the MN1 Gene in a Patient Presenting with Rhombencephalosynapsis and Craniofacial Anomalies, Expanding MN1 C-terminal Truncation Syndrome.
Palma Milla C, Patricia PM, Lezana JM, Cruz J, Quesada JF, Vila S, Álvarez-Mora I, Arteche-López A, Gómez-Manjón I, Sánchez MT, Gómez-Rodríguez MJ, Sánchez J, Moreno-García M. Palma Milla C, et al. Among authors: gomez manjon i. J Pediatr Genet. 2021 Apr 14;12(3):254-257. doi: 10.1055/s-0041-1728650. eCollection 2023 Sep. J Pediatr Genet. 2021. PMID: 37575653 Free PMC article.
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. Among authors: gomez manjon i. Int J Mol Sci. 2022 Apr 11;23(8):4230. doi: 10.3390/ijms23084230. Int J Mol Sci. 2022. PMID: 35457051 Free PMC article.
13 results