Showing 1 - 14 results of 14 for search 'Ana Perdomo‐Ramirez', query time: 0.04s Refine Results
  1. 1
    New <i>SLC22A12</i> (URAT1) Variant Associated with Renal Hypouricemia Identified by Whole-Exome Sequencing Analysis and Bioinformatics Predictions

    New <i>SLC22A12</i> (URAT1) Variant Associated with Renal Hypouricemia Identified by Whole-Exome Sequencing Analysis and Bioinformatics Predictions by Ana Perdomo-Ramírez, Elena Ramos-Trujillo, Félix Claverie-Martín

    Published 2023-09-01
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  2. 2
    Hereditary kidney diseases associated with hypomagnesemia

    Hereditary kidney diseases associated with hypomagnesemia by Felix Claverie-Martin, Ana Perdomo-Ramirez, Victor Garcia-Nieto

    Published 2021-12-01
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  3. 3
    Characterization of pre-mRNA Splicing Defects Caused by <i>CLCN5</i> and <i>OCRL</i> Mutations and Identification of Novel Variants Associated with Dent Disease

    Characterization of pre-mRNA Splicing Defects Caused by <i>CLCN5</i> and <i>OCRL</i> Mutations and Identification of Novel Variants Associated with Dent Disease by Glorián Mura-Escorche, Ana Perdomo-Ramírez, Elena Ramos-Trujillo, Carmen Jane Trujillo-Frías, Félix Claverie-Martín

    Published 2023-11-01
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  4. 4
    Exonic CLDN16 mutations associated with familial hypomagnesemia with hypercalciuria and nephrocalcinosis can induce deleterious mRNA alterations

    Exonic CLDN16 mutations associated with familial hypomagnesemia with hypercalciuria and nephrocalcinosis can induce deleterious mRNA alterations by Ana Perdomo-Ramirez, Marian de Armas-Ortiz, Elena Ramos-Trujillo, Lorena Suarez-Artiles, Felix Claverie-Martin

    Published 2019-01-01
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  5. 5
    Novel compound heterozygous mutations of CLDN16 in a patient with familial hypomagnesemia with hypercalciuria and nephrocalcinosis

    Novel compound heterozygous mutations of CLDN16 in a patient with familial hypomagnesemia with hypercalciuria and nephrocalcinosis by Alejandro García‐Castaño, Ana Perdomo‐Ramirez, Mònica Vall‐Palomar, Elena Ramos‐Trujillo, Leire Madariaga, Gema Ariceta, Felix Claverie‐Martin

    Published 2020-11-01
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  6. 6
    Renal diseases that course with hypomagnesemia. Comments on a new hereditary hypomagnesemic tubulopathy

    Renal diseases that course with hypomagnesemia. Comments on a new hereditary hypomagnesemic tubulopathy by Víctor M. Garcia-Nieto, Félix Claverie-Martin, Teresa Moraleda-Mesa, Ana Perdomo-Ramírez, Gloria Mª Fraga-Rodríguez, María Isabel Luis-Yanes, Elena Ramos-Trujillo

    Published 2024-01-01
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  7. 7
    Hereditary renal hypouricaemia type 1 and 2 in three Spanish children. Review of published paediatric cases

    Hereditary renal hypouricaemia type 1 and 2 in three Spanish children. Review of published paediatric cases by Amelia Peris Vidal, Juan Marin Serra, Elena Lucas Sáez, Susana Ferrando Monleón, Félix Claverie-Martin, Ana Perdomo Ramírez, Jorge Trujillo-Suarez, Jaime Fons Moreno

    Published 2019-07-01
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  8. 8
    Enfermedades renales que cursan con hipomagnesemia. Comentarios acerca de una nueva tubulopatía hipomagnesémica de origen genético

    Enfermedades renales que cursan con hipomagnesemia. Comentarios acerca de una nueva tubulopatía hipomagnesémica de origen genético by Víctor M. Garcia-Nieto, Félix Claverie-Martin, Teresa Moraleda-Mesa, Ana Perdomo-Ramírez, Gloria Ma Fraga-Rodríguez, María Isabel Luis-Yanes, Elena Ramos-Trujillo

    Published 2024-01-01
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  9. 9
    Hipouricemia renal hereditaria tipo 1 y 2 en tres niños españoles. Revisión de casos pediátricos publicados

    Hipouricemia renal hereditaria tipo 1 y 2 en tres niños españoles. Revisión de casos pediátricos publicados by Amelia Peris Vidal, Juan Marin Serra, Elena Lucas Sáez, Susana Ferrando Monleón, Félix Claverie-Martin, Ana Perdomo Ramírez, Jorge Trujillo-Suarez, Jaime Fons Moreno

    Published 2019-07-01
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  10. 10
    Gout associated with reduced renal excretion of uric acid. Renal tubular disorder that nephrologists do not treat

    Gout associated with reduced renal excretion of uric acid. Renal tubular disorder that nephrologists do not treat by Víctor M. García-Nieto, Félix Claverie-Martín, Teresa Moraleda-Mesa, Ana Perdomo-Ramírez, Patricia Tejera-Carreño, Elizabeth Cordoba-Lanus, María I. Luis-Yanes, Elena Ramos-Trujillo

    Published 2022-05-01
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  11. 11
    Considerations about the molecular basis of some kidney tubule disorders in relation to inbreeding and population displacement

    Considerations about the molecular basis of some kidney tubule disorders in relation to inbreeding and population displacement by Víctor M. García-Nieto, Félix Claverie-Martín, Ana Perdomo-Ramírez, Elizabeth Cárdoba-Lanus, Elena Ramos-Trujillo, Glorián Mura-Escorche, Patricia Tejera-Carreño, María I. Luis-Yanes

    Published 2020-03-01
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  12. 12
    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)

    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) by Ana Perdomo-Ramirez, Elizabeth Cordoba-Lanus, Carmen Jane Trujillo-Frias, Carolina Gonzalez-Navasa, Elena Ramos-Trujillo, Maria Isabel Luis-Yanes, Victor Garcia-Nieto, Felix Claverie-Martin

    Published 2023-05-01
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  13. 13
    La gota asociada a reducción de la excreción renal de ácido úrico. Esa tubulopatía que no tratamos los nefrólogos

    La gota asociada a reducción de la excreción renal de ácido úrico. Esa tubulopatía que no tratamos los nefrólogos by Víctor M. García-Nieto, Félix Claverie-Martín, Teresa Moraleda-Mesa, Ana Perdomo-Ramírez, Patricia Tejera-Carreño, Elizabeth Córdoba-Lanus, María I. Luis-Yanes, Elena Ramos-Trujillo

    Published 2022-05-01
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  14. 14
    Hypomagnesaemia with varying degrees of extrarenal symptoms as a consequence of heterozygous CNNM2 variants

    Hypomagnesaemia with varying degrees of extrarenal symptoms as a consequence of heterozygous CNNM2 variants by Willem Bosman, Gijs A. C. Franken, Javier de las Heras, Leire Madariaga, Tahsin Stefan Barakat, Rianne Oostenbrink, Marjon van Slegtenhorst, Ana Perdomo-Ramírez, Félix Claverie-Martín, Albertien M. van Eerde, Rosa Vargas-Poussou, Laurence Derain Dubourg, Irene González-Recio, Luis Alfonso Martínez-Cruz, Jeroen H. F. de Baaij, Joost G. J. Hoenderop

    Published 2024-03-01
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