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

Nefrología, 2024-01, Vol.44 (1), p.23-31

2024

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Hereditary kidney diseases associated with hypomagnesemia

Kidney Research and Clinical Practice, 2021, 40(4), , pp.512-526

2021

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

Nefrología, 2024-01, Vol.44 (1), p.23-31

2024

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

Genes, 2023-09, Vol.14 (9), p.1823

2023

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Hereditary renal hypouricemia type 1 and 2 in three spanish children. Revision of published pediatric cases

Nefrologia : publicacion oficial de la Sociedad Espanola Nefrologia, 2019-07

2019

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Hypomagnesaemia with varying degrees of extrarenal symptoms as a consequence of heterozygous CNNM2 variants

Scientific reports, 2024-03, Vol.14 (1), p.6917-6917, Article 6917

2024

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Main pigmentary features and melanocortin 1 receptor (MC1R) gene polymorphisms in the population of the Canary Islands

International journal of dermatology, 2008-08, Vol.47 (8), p.806-811

2008

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Hipouricemia renal hereditaria tipo 1 y 2 en tres niños españoles. Revisión de casos pediátricos publicados

Nefrología, 2019-07, Vol.39 (4), p.355-361

2019

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Novel compound heterozygous mutations of CLDN16 in a patient with familial hypomagnesemia with hypercalciuria and nephrocalcinosis

Molecular genetics & genomic medicine, 2020-11, Vol.8 (11), p.e1475-n/a

2020

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Hereditary renal hypouricaemia type 1 and 2 in three Spanish children. Review of published paediatric cases

Nefrología, 2019-07, Vol.39 (4), p.355-361

2019

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Characterization of pre-mRNA Splicing Defects Caused by CLCN5 and OCRL Mutations and Identification of Novel Variants Associated with Dent Disease

Biomedicines, 2023-11, Vol.11 (11), p.3082

2023

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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, 2023-05, Vol.24 (9), p.8455

2023

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Defective pre-mRNA splicing in PKD1 due to presumed missense and synonymous mutations causing autosomal dominant polycystic disease

Gene, 2014-08, Vol.546 (2), p.243-249

2014

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Splicing Analysis of Exonic OCRL Mutations Causing Lowe Syndrome or Dent-2 Disease

Genes, 2018-01, Vol.9 (1), p.15

2018

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

BMC medical genetics, 2019-01, Vol.20 (1), p.6-10, Article 6

2019

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Heterogeneity is a common ground in familial hypomagnesemia with hypercalciuria and nephrocalcinosis caused by CLDN19 gene mutations

Journal of nephrology, 2021-12, Vol.34 (6), p.2053-2062

2021

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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

Biomedical reports, 2020-11, Vol.13 (5), p.1-1

2020

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Dent’s disease: clinical features and molecular basis

Pediatric nephrology (Berlin, West), 2011-05, Vol.26 (5), p.693-704

2011

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Urolithiasis, idiopathic hypercalciuria and insularity

Pediatric nephrology (Berlin, West), 2006-09, Vol.21 (9), p.1331-1332

2006

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Mapping a new suggestive gene locus for autosomal dominant nephrolithiasis to chromosome 9q33.2–q34.2 by total genome search for linkage

Nephrology, dialysis, transplantation, 2005-05, Vol.20 (5), p.909-914

2005

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The Alu insertion in the CLCN5 gene of a patient with Dent's disease leads to exon 11 skipping

Journal of human genetics, 2005-07, Vol.50 (7), p.370-374

2005

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A missense mutation in the chloride/proton ClC-5 antiporter gene results in increased expression of an alternative mRNA form that lacks exons 10 and 11. Identification of seven new CLCN5 mutations in patients with Dent's disease

Journal of human genetics, 2007-03, Vol.52 (3), p.255-261

2007

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The D84E variant of the α-MSH receptor 1 gene is associated with cutaneous malignant melanoma early onset

Journal of dermatological science, 2008-12, Vol.52 (3), p.186-192

2008

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

Hereditary kidney diseases associated with hypomagnesemia

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

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

Hereditary renal hypouricemia type 1 and 2 in three spanish children. Revision of published pediatric cases

Hypomagnesaemia with varying degrees of extrarenal symptoms as a consequence of heterozygous CNNM2 variants

Main pigmentary features and melanocortin 1 receptor (MC1R) gene polymorphisms in the population of the Canary Islands

Hipouricemia renal hereditaria tipo 1 y 2 en tres niños españoles. Revisión de casos pediátricos publicados

Novel compound heterozygous mutations of CLDN16 in a patient with familial hypomagnesemia with hypercalciuria and nephrocalcinosis

Hereditary renal hypouricaemia type 1 and 2 in three Spanish children. Review of published paediatric cases

Characterization of pre-mRNA Splicing Defects Caused by CLCN5 and OCRL Mutations and Identification of Novel Variants Associated with Dent Disease

Claudin-19 mutations and clinical phenotype in Spanish patients with familial hypomagnesemia with hypercalciuria and nephrocalcinosis

Pathogenic Variants of SLC22A12 (URAT1) and SLC2A9 (GLUT9) in Spanish Patients with Renal Hypouricemia: Founder Effect of SLC2A9 Variant c.374C>T; p.(T125M)

Defective pre-mRNA splicing in PKD1 due to presumed missense and synonymous mutations causing autosomal dominant polycystic disease

The phenotypic and genetic spectrum of patients with heterozygous mutations in cyclin M2 (CNNM2)

Splicing Analysis of Exonic OCRL Mutations Causing Lowe Syndrome or Dent-2 Disease

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

Heterogeneity is a common ground in familial hypomagnesemia with hypercalciuria and nephrocalcinosis caused by CLDN19 gene mutations

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

Dent’s disease: clinical features and molecular basis

Urolithiasis, idiopathic hypercalciuria and insularity

Mapping a new suggestive gene locus for autosomal dominant nephrolithiasis to chromosome 9q33.2–q34.2 by total genome search for linkage

The Alu insertion in the CLCN5 gene of a patient with Dent's disease leads to exon 11 skipping

A missense mutation in the chloride/proton ClC-5 antiporter gene results in increased expression of an alternative mRNA form that lacks exons 10 and 11. Identification of seven new CLCN5 mutations in patients with Dent's disease

The D84E variant of the α-MSH receptor 1 gene is associated with cutaneous malignant melanoma early onset

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