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2021 2
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Page 1
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. Among authors: ramos gomez p. Neuropediatrics. 2023 Feb;54(1):31-36. doi: 10.1055/a-1947-8411. Epub 2022 Sep 20. Neuropediatrics. 2023. PMID: 36126956
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. Among authors: gomez pr. Clin Genet. 2023 Feb;103(2):236-241. doi: 10.1111/cge.14249. Epub 2022 Nov 3. Clin Genet. 2023. PMID: 36250766
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. Among authors: ramos gomez p. 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
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: ramos gomez p. Neurogenetics. 2021 Oct;22(4):343-346. doi: 10.1007/s10048-021-00660-7. Epub 2021 Jul 23. Neurogenetics. 2021. PMID: 34296368
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. Among authors: ramos gomez p. Genes (Basel). 2021 Apr 12;12(4):560. doi: 10.3390/genes12040560. Genes (Basel). 2021. PMID: 33921431 Free PMC article.