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Kidney Research and Clinical Practice|November 16, 2021
Hereditary kidney diseases associated with hypomagnesemiaFelix Claverie-Martin, Ana Perdomo-Ramirez, Victor Garcia-Nieto
Biomedical Reports|September 23, 2020
Nail-Patella syndrome with early onset end-stage renal disease in a child with a novel heterozygous missense mutation in the LMX1B homeodomain: A case reportSoledad Carinelli, Olalla Alvarez Blanco, Ana Perdomo-Ramirez, et al.
Genes|January 5, 2018
Splicing Analysis of Exonic OCRL Mutations Causing Lowe Syndrome or Dent-2 DiseaseLorena Suarez-Artiles, Ana Perdomo-Ramirez, Elena Ramos-Trujillo, et al.
Gene|December 22, 2018
Characterization of two novel mutations in the claudin-16 and claudin-19 genes that cause familial hypomagnesemia with hypercalciuria and nephrocalcinosisAna Perdomo-Ramirez, Mireia Aguirre, Tinatin Davitaia, et al.
BMC Medical Genetics|January 10, 2019
Exonic CLDN16 mutations associated with familial hypomagnesemia with hypercalciuria and nephrocalcinosis can induce deleterious mRNA alterationsAna Perdomo-Ramirez, Marian de Armas-Ortiz, Elena Ramos-Trujillo, et al.
Intractable & Rare Diseases Research|November 3, 2020
Two new missense mutations in the protein interaction ASH domain of OCRL1 identified in patients with Lowe syndromeAna Perdomo-Ramirez, Montserrat Antón-Gamero, Daniela Sakaguchi Rizzo, et al.
Molecular Genetics & Genomic Medicine|September 2, 2020
Novel compound heterozygous mutations of CLDN16 in a patient with familial hypomagnesemia with hypercalciuria and nephrocalcinosisAlejandro García-Castaño, Ana Perdomo-Ramirez, Mònica Vall-Palomar, et al.
International Journal of Molecular Sciences|May 13, 2023
Pathogenic Variants of <i>SLC22A12</i> (URAT1) and <i>SLC2A9</i> (GLUT9) in Spanish Patients with Renal Hypouricemia: Founder Effect of <i>SLC2A9</i> Variant c.374C>T; p.(T125M)Ana Perdomo-Ramirez, Elizabeth Cordoba-Lanus, Carmen Jane Trujillo-Frias, et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association|May 13, 2022
Possible role for rare TRPM7 variants in patients with hypomagnesaemia with secondary hypocalcaemiaRosa Vargas-Poussou, Felix Claverie-Martin, Caroline Prot-Bertoye, et al.
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