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En esta sección  encontrarás una selección de las publicaciones médicas relacionadas con las tubulopatías, la hipomagnesemia y las enfermedades renales.

Intentamos mantener una relación actualizada, por eso si conoces una publicación que no hemos publicado y consideras que es importante, ponte en contacto con nosotros, estaremos encantados de publicarla.

Familial hypomagnesaemia with hypercalciuria and nephrocalcinosis: clinical and molecular characteristics

Clinical Kidney Journal Advance Access published September 1, 2015

Clinical utility gene card for: familial hypomagnesemia with hypercalciuria and nephrocalcinosis with/without severe ocular involvement.

European Journal of Human Genetics (2014)

Rol de las claudinas en el manejo renal del calcio

Nefrología 2015

Familial Hypomagnesemia with Hypercalciuria and Nephrocalcinosis: Phenotype–Genotype Correlation and Outcome in 32 Patients with CLDN16 or CLDN19 Mutations

Clinical Journal of the American Society of Nephrology

Hipomagnesemia familiar con hipercalciuria y nefrocalcinosis. Su historia.

2014 Revista Nefrología. Órgano Oficial de la Sociedad Española de Nefrología

Gitelman syndrome: consensus and guidance from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference

A Blanchard et al.: Gitelman syndrome: a KDIGO conference report

Haplotype analysis of CLDN19 single nucleotide polymorphisms in Spanish patients with familial hypomagnesemia with hypercalciuria and nephrocalcinosis

World Journal of Pediatrics

Diagnostic Utility of Exome Sequencing for Kidney Disease

The new england journal of medicine.

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

Perdomo-Ramirez et al. BMC Medical Genetics

Characterization of two novel mutations in the claudin-16 and claudin-19 genes that cause familial hypomagnesemia with hypercalciuria and nephrocalcinosis

A. Perdomo-Ramirez et al. Gene 689 (2019)

Establishment of urinary exosome‑like vesicles isolation protocol for FHHNC patients and evaluation of diferent exosomal RNA extraction methods

Vall‑Palomar et al. J Transl Med (2018)