Elena
Ramos Trujillo
Profesora Sustituta
Ana María
Perdomo Ramírez
Researcher
Publications by the researcher in collaboration with Ana María Perdomo Ramírez (14)
2024
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4-Phenylbutyric Acid Treatment Reduces Low-Molecular-Weight Proteinuria in a Clcn5 Knock-in Mouse Model for Dent Disease-1
International Journal of Molecular Sciences, Vol. 25, Núm. 15
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Renal diseases that course with hypomagnesemia. Comments on a new hereditary hypomagnesemic tubulopathy
Nefrologia, Vol. 44, Núm. 1, pp. 23-31
2023
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Characterization of pre-mRNA Splicing Defects Caused by CLCN5 and OCRL Mutations and Identification of Novel Variants Associated with Dent Disease
Biomedicines, Vol. 11, Núm. 11
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Enfermedades renales que cursan con hipomagnesemia. Comentarios acerca de una nueva tubulopatía hipomagnesémica de origen genético
Nefrología
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New SLC22A12 (URAT1) Variant Associated with Renal Hypouricemia Identified by Whole-Exome Sequencing Analysis and Bioinformatics Predictions
Genes, Vol. 14, Núm. 9
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Pathogenic Variants of SLC22A12 (URAT1) and SLC2A9 (GLUT9) in Spanish Patients with Renal Hypouricemia: Founder Effect of SLC2A9 Variant c.374C>T; p.(T125M)
International Journal of Molecular Sciences, Vol. 24, Núm. 9
2022
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Gout associated with reduced renal excretion of uric acid. Renal tubular disorder that nephrologists do not treat
Nefrologia, Vol. 42, Núm. 3, pp. 273-279
2021
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Síndrome oculocerebrorrenal de Lowe
Nefrología pediátrica (Ediciones de la Universidad de Oviedo), pp. 189-194
2020
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Considerations about the molecular basis of some kidney tubule disorders in relation to inbreeding and population displacement
Nefrologia, Vol. 40, Núm. 2, pp. 126-132
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Novel compound heterozygous mutations of CLDN16 in a patient with familial hypomagnesemia with hypercalciuria and nephrocalcinosis
Molecular Genetics and Genomic Medicine, Vol. 8, Núm. 11
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Two new missense mutations in the protein interaction ASH domain of OCRL1 identified in patients with Lowe syndrome
Intractable and Rare Diseases Research, Vol. 9, Núm. 4, pp. 222-228
2019
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Characterization of two novel mutations in the claudin-16 and claudin-19 genes that cause familial hypomagnesemia with hypercalciuria and nephrocalcinosis
Gene, Vol. 689, pp. 227-234
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Exonic CLDN16 mutations associated with familial hypomagnesemia with hypercalciuria and nephrocalcinosis can induce deleterious mRNA alterations
BMC Medical Genetics, Vol. 20, Núm. 1
2018
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Splicing analysis of exonic OCRL mutations causing lowe syndrome or dent-2 disease
Genes, Vol. 9, Núm. 1