Ana María Perdomo Ramírez-rekin lankidetzan egindako argitalpenak (13)

2024

  1. Renal diseases that course with hypomagnesemia. Comments on a new hereditary hypomagnesemic tubulopathy

    Nefrologia, Vol. 44, Núm. 1, pp. 23-31

2023

  1. 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

  2. Enfermedades renales que cursan con hipomagnesemia. Comentarios acerca de una nueva tubulopatía hipomagnesémica de origen genético

    Nefrología

  3. New SLC22A12 (URAT1) Variant Associated with Renal Hypouricemia Identified by Whole-Exome Sequencing Analysis and Bioinformatics Predictions

    Genes, Vol. 14, Núm. 9

  4. 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

  1. 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

  1. Síndrome oculocerebrorrenal de Lowe

    Nefrología pediátrica (Ediciones de la Universidad de Oviedo), pp. 189-194

2020

  1. 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

  2. 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

  3. 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

  1. 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

  2. Exonic CLDN16 mutations associated with familial hypomagnesemia with hypercalciuria and nephrocalcinosis can induce deleterious mRNA alterations

    BMC Medical Genetics, Vol. 20, Núm. 1

2018

  1. Splicing analysis of exonic OCRL mutations causing lowe syndrome or dent-2 disease

    Genes, Vol. 9, Núm. 1