Ana Perdomo-Ramírez (Ana Perdomo-Ramirez)

Scopus Author ID ORCID

Publication Activity (10 Years)

Years Active: 2020-2024
Publications (10 Years): 7

Top Topics

Intellectual Disability

Endoplasmic Reticulum

Top Venues

International journal of molecular sciences

Molecular genetics & genomic medicine

This page only lists publications with an associated author ORCID identifier.

Publications

Ana Perdomo-Ramírez, Elena Ramos-Trujillo, Jose David Machado, Victor García-Nieto, Glorián Mura-Escorche, Felix Claverie-Martin, null null
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 25 (15) (2024)
Ana Perdomo-Ramírez, Elena Ramos-Trujillo, Jose David Machado, Victor García-Nieto, Glorián Mura-Escorche, Felix Claverie-Martin, null null
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 25 (15) (2024)
Ana Perdomo-Ramírez, A Elizabeth Córdoba-Lanús, Carmen Jane Trujillo-Frias, Carolina Gonzalez-Navasa, Elena Ramos-Trujillo, Maria Isabel Luis-Yanes, Victor Garcia-Nieto, Felix Claverie-Martin, null null
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 24 (9) (2023)
Glorián Mura-Escorche, Ana Perdomo-Ramírez, Elena Ramos-Trujillo, Carmen Jane Trujillo-Frías, Felix Claverie-Martin, null null
Characterization of pre-mRNA Splicing Defects Caused by CLCN5 and OCRL Mutations and Identification of Novel Variants Associated with Dent Disease. Biomedicines 11 (11) (2023)
Ana Perdomo-Ramírez, A Elizabeth Córdoba-Lanús, Carmen Jane Trujillo-Frias, Carolina Gonzalez-Navasa, Elena Ramos-Trujillo, Maria Isabel Luis-Yanes, Victor Garcia-Nieto, Felix Claverie-Martin, null null
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 24 (9) (2023)
Ana Perdomo-Ramírez, Elena Ramos-Trujillo, Felix Claverie-Martin, null null
New SLC22A12 (URAT1) Variant Associated with Renal Hypouricemia Identified by Whole-Exome Sequencing Analysis and Bioinformatics Predictions. Genes 14 (9) (2023)
Alejandro García Castaño, Ana Perdomo-Ramírez, Mònica Vall-Palomar, Elena Ramos-Trujillo, Leire Madariaga, Gema Ariceta, Felix Claverie-Martin
Novel compound heterozygous mutations of CLDN16 in a patient with familial hypomagnesemia with hypercalciuria and nephrocalcinosis. Molecular genetics & genomic medicine 8 (11) (2020)