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Hereditary cerebral small vessel disease: Assessment of a HTRA1 variant using protein stability predictors and 3D modelling.
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
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. Among authors: hidalgo mayoral i.
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.
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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: hidalgo mayoral i.
Genes (Basel). 2021 Apr 12;12(4):560. doi: 10.3390/genes12040560.
Genes (Basel). 2021.
PMID: 33921431
Free PMC article.
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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: hidalgo mayoral i.
Neurogenetics. 2021 Oct;22(4):343-346. doi: 10.1007/s10048-021-00660-7. Epub 2021 Jul 23.
Neurogenetics. 2021.
PMID: 34296368
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Crystalluria caused by amoxicillin.
Melero López D, Hidalgo Mayoral I, Delmiro Magdalena A.
Melero López D, et al. Among authors: hidalgo mayoral i.
Rev Clin Esp (Barc). 2020 Aug-Sep;220(6):383. doi: 10.1016/j.rce.2019.02.006. Epub 2019 May 20.
Rev Clin Esp (Barc). 2020.
PMID: 31122653
English, Spanish.
No abstract available.
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Unexpected Findings in Hereditary Breast and Ovarian Cancer Syndrome: Low-Level Constitutional Mosaicism in BRCA2.
Hidalgo Mayoral I, Almeida Santiago A, Sánchez-Zapardiel JM, Hidalgo Calero B, de la Hoya M, Gómez-Sanz A, de Miguel Reyes M, Robles L.
Hidalgo Mayoral I, et al.
Genes (Basel). 2023 Feb 15;14(2):502. doi: 10.3390/genes14020502.
Genes (Basel). 2023.
PMID: 36833429
Free PMC article.
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Clinical, Biochemical, and Molecular Characterization of Two Families with Novel Mutations in the LDHA Gene (GSD XI).
Serrano-Lorenzo P, Rabasa M, Esteban J, Hidalgo Mayoral I, Domínguez-González C, Blanco-Echevarría A, Garrido-Moraga R, Lucia A, Blázquez A, Rubio JC, Palma-Milla C, Arenas J, Martín MA.
Serrano-Lorenzo P, et al. Among authors: hidalgo mayoral i.
Genes (Basel). 2022 Oct 11;13(10):1835. doi: 10.3390/genes13101835.
Genes (Basel). 2022.
PMID: 36292720
Free PMC article.
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