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144 results

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Page 1
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
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.
Hereditary cerebral small vessel disease: Assessment of a HTRA1 variant using protein stability predictors and 3D modelling.
Hidalgo Mayoral I, Martínez-Salio A, Llamas-Velasco S, Gómez-Majón I, Arteche-López A, Quesada-Espinosa JF, Palma Milla C, Lezana Rosales JM, Pérez de la Fuente R, Juárez Rufián A, Sierra Tomillo O, Sánchez Calvín MT, Gómez Rodríguez MJ, Ramos Gómez P, Villarejo-Galende A, Díaz-Guzmán J, Ortega-Casarrubios MÁ, Calleja-Castaño P, Moreno-García M. Hidalgo Mayoral I, et al. Eur J Med Genet. 2022 Aug;65(8):104539. doi: 10.1016/j.ejmg.2022.104539. Epub 2022 Jun 12. Eur J Med Genet. 2022. PMID: 35705147
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
Expanding the Phenotypic Spectrum of Alazami Syndrome: Two Unrelated Spanish Families.
Soengas-Gonda E, Pérez de la Fuente R, Arteche-López A, Gómez-Cano MLÁ, Quesada-Espinosa JF, Palma Milla C, Lezana Rosales JM, Mayo de Andrés S, Sánchez-Calvín MT, Gómez-Rodríguez MJ, Sierra Tomillo O, Juarez Rufian A, Ramos Gomez P, Herrero-Forte C, Fenollar-Cortés M, Cotarelo-Pérez C, García Ron A, Pérez Rodríguez O, Oancea-Ionescu R, Moreno-García M. Soengas-Gonda E, et al. Neuropediatrics. 2023 Feb;54(1):31-36. doi: 10.1055/a-1947-8411. Epub 2022 Sep 20. Neuropediatrics. 2023. PMID: 36126956
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.
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.
[Genetics of congenital cardiopathies].
Moreno García M, Gómez Rodríguez MJ, Barreiro Miranda E. Moreno García M, et al. An Esp Pediatr. 2000 Jul;53(1):30-9. An Esp Pediatr. 2000. PMID: 10998401 Review. Spanish.
144 results