4-Phenylbutyric Acid Treatment Reduces Low-Molecular-Weight Proteinuria in a Clcn5 Knock-in Mouse Model for Dent Disease-1
Perdomo-Ramírez, Ana, Ramos-Trujillo, Elena, Machado, Jose David, García-Nieto, Victor, Mura-Escorche, Glorián, Claverie-Martin, Félix
Published in International journal of molecular sciences (01.08.2024)
Published in International journal of molecular sciences (01.08.2024)
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Journal Article
Hypomagnesaemia with varying degrees of extrarenal symptoms as a consequence of heterozygous CNNM2 variants
Bosman, Willem, Franken, Gijs A. C., de las Heras, Javier, Madariaga, Leire, Barakat, Tahsin Stefan, Oostenbrink, Rianne, van Slegtenhorst, Marjon, Perdomo-Ramírez, Ana, Claverie-Martín, Félix, van Eerde, Albertien M., Vargas-Poussou, Rosa, Dubourg, Laurence Derain, González-Recio, Irene, Martínez-Cruz, Luis Alfonso, de Baaij, Jeroen H. F., Hoenderop, Joost G. J.
Published in Scientific reports (22.03.2024)
Published in Scientific reports (22.03.2024)
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Journal Article
Hereditary kidney diseases associated with hypomagnesemia
Felix Claverie-martin, Ana Perdomo-ramirez, Victor Garcia-nieto
Published in Kidney research and clinical practice (01.12.2021)
Published in Kidney research and clinical practice (01.12.2021)
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Journal Article
Renal diseases that course with hypomagnesemia. Comments on a new hereditary hypomagnesemic tubulopathy
Garcia-Nieto, Víctor M., Claverie-Martin, Félix, Moraleda-Mesa, Teresa, Perdomo-Ramírez, Ana, Fraga-Rodríguez, Gloria Mª, Luis-Yanes, María Isabel, Ramos-Trujillo, Elena
Published in Nefrología (01.01.2024)
Published in Nefrología (01.01.2024)
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Journal Article
Characterization of pre-mRNA Splicing Defects Caused by CLCN5 and OCRL Mutations and Identification of Novel Variants Associated with Dent Disease
Mura-Escorche, Glorián, Perdomo-Ramírez, Ana, Ramos-Trujillo, Elena, Trujillo-Frías, Carmen Jane, Claverie-Martín, Félix
Published in Biomedicines (01.11.2023)
Published in Biomedicines (01.11.2023)
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Journal Article
Gout associated with reduced renal excretion of uric acid. Renal tubular disorder that nephrologists do not treat
García-Nieto, Víctor M., Claverie-Martín, Félix, Moraleda-Mesa, Teresa, Perdomo-Ramírez, Ana, Tejera-Carreño, Patricia, Cordoba-Lanus, Elizabeth, Luis-Yanes, María I., Ramos-Trujillo, Elena
Published in Nefrología (01.05.2022)
Published in Nefrología (01.05.2022)
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Journal Article
Hereditary renal hypouricaemia type 1 and 2 in three Spanish children. Review of published paediatric cases
Peris Vidal, Amelia, Marin Serra, Juan, Lucas Sáez, Elena, Ferrando Monleón, Susana, Claverie-Martin, Félix, Perdomo Ramírez, Ana, Trujillo-Suarez, Jorge, Fons Moreno, Jaime
Published in Nefrología (01.07.2019)
Published in Nefrología (01.07.2019)
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Journal Article
Considerations about the molecular basis of some kidney tubule disorders in relation to inbreeding and population displacement
García-Nieto, Víctor M., Claverie-Martín, Félix, Perdomo-Ramírez, Ana, Cárdoba-Lanus, Elizabeth, Ramos-Trujillo, Elena, Mura-Escorche, Glorián, Tejera-Carreño, Patricia, Luis-Yanes, María I.
Published in Nefrología (01.03.2020)
Published in Nefrología (01.03.2020)
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Journal Article
Novel compound heterozygous mutations of CLDN16 in a patient with familial hypomagnesemia with hypercalciuria and nephrocalcinosis
García‐Castaño, Alejandro, Perdomo‐Ramirez, Ana, Vall‐Palomar, Mònica, Ramos‐Trujillo, Elena, Madariaga, Leire, Ariceta, Gema, Claverie‐Martin, Felix
Published in Molecular genetics & genomic medicine (01.11.2020)
Published in Molecular genetics & genomic medicine (01.11.2020)
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Journal Article
Two new missense mutations in the protein interaction ASH domain of OCRL1 identified in patients with Lowe syndrome
Perdomo-Ramirez, Ana, Antón-Gamero, Montserrat, Rizzo, Daniela Sakaguchi, Trindade, Amelia, Ramos-Trujillo, Elena, Claverie-Martin, Felix
Published in Intractable & Rare Diseases Research (01.11.2020)
Published in Intractable & Rare Diseases Research (01.11.2020)
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Journal Article
Enfermedades renales que cursan con hipomagnesemia. Comentarios acerca de una nueva tubulopatía hipomagnesémica de origen genético
Garcia-Nieto, Víctor M., Claverie-Martin, Félix, Moraleda-Mesa, Teresa, Perdomo-Ramírez, Ana, Fraga-Rodríguez, Gloria Ma, Luis-Yanes, María Isabel, Ramos-Trujillo, Elena
Published in Nefrología (01.01.2024)
Published in Nefrología (01.01.2024)
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Journal Article
La gota asociada a reducción de la excreción renal de ácido úrico. Esa tubulopatía que no tratamos los nefrólogos
García-Nieto, Víctor M., Claverie-Martín, Félix, Moraleda-Mesa, Teresa, Perdomo-Ramírez, Ana, Tejera-Carreño, Patricia, Córdoba-Lanus, Elizabeth, Luis-Yanes, María I., Ramos-Trujillo, Elena
Published in Nefrología (01.05.2022)
Published in Nefrología (01.05.2022)
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Journal Article
Consideraciones acerca de las bases moleculares de algunas tubulopatías en relación con la endogamia y los desplazamientos poblacionales
García-Nieto, Víctor M., Claverie-Martín, Félix, Perdomo-Ramírez, Ana, Cárdoba-Lanus, Elizabeth, Ramos-Trujillo, Elena, Mura-Escorche, Glorián, Tejera-Carreño, Patricia, Luis-Yanes, María I.
Published in Nefrología (01.03.2020)
Published in Nefrología (01.03.2020)
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Journal Article
Hipouricemia renal hereditaria tipo 1 y 2 en tres niños españoles. Revisión de casos pediátricos publicados
Peris Vidal, Amelia, Marin Serra, Juan, Lucas Sáez, Elena, Ferrando Monleón, Susana, Claverie-Martin, Félix, Perdomo Ramírez, Ana, Trujillo-Suarez, Jorge, Fons Moreno, Jaime
Published in Nefrología (01.07.2019)
Published in Nefrología (01.07.2019)
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Journal Article
Pathogenic Variants of SLC22A12 (URAT1) and SLC2A9 (GLUT9) in Spanish Patients with Renal Hypouricemia: Founder Effect of SLC2A9 Variant c.374C>T; p.(T125M)
Perdomo-Ramirez, Ana, Cordoba-Lanus, Elizabeth, Trujillo-Frias, Carmen Jane, Gonzalez-Navasa, Carolina, Ramos-Trujillo, Elena, Luis-Yanes, Maria Isabel, Garcia-Nieto, Victor, Claverie-Martin, Felix
Published in International journal of molecular sciences (08.05.2023)
Published in International journal of molecular sciences (08.05.2023)
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Journal Article
Splicing Analysis of Exonic OCRL Mutations Causing Lowe Syndrome or Dent-2 Disease
Suarez-Artiles, Lorena, Perdomo-Ramirez, Ana, Ramos-Trujillo, Elena, Claverie-Martin, Felix
Published in Genes (04.01.2018)
Published in Genes (04.01.2018)
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Journal Article
Exonic CLDN16 mutations associated with familial hypomagnesemia with hypercalciuria and nephrocalcinosis can induce deleterious mRNA alterations
Perdomo-Ramirez, Ana, de Armas-Ortiz, Marian, Ramos-Trujillo, Elena, Suarez-Artiles, Lorena, Claverie-Martin, Felix
Published in BMC medical genetics (08.01.2019)
Published in BMC medical genetics (08.01.2019)
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Journal Article
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 report
Carinelli, Soledad, Blanco, Olalla, Perdomo‑Ramirez, Ana , Claverie‑Martin, Felix
Published in Biomedical reports (01.11.2020)
Published in Biomedical reports (01.11.2020)
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