Hilaria González-Acosta

Claudin-19 Mutations and Clinical Phenotype in Spanish Patients with Familial Hypomagnesemia with Hypercalciuria and Nephrocalcinosis

Félix Claverie-Martı́n, Víctor Manuel García Nieto, C Loris et al. · PLoS ONE · 2013 · 60 citations · Full text

URAT1 and GLUT9 mutations in Spanish patients with renal hypouricemia

Félix Claverie-Martı́n, Jorge Trujillo-Suarez, Hilaria González-Acosta et al. · Clinica Chimica Acta · 2018 · 49 citations

Glomerulonephritis, Urology, Renal Function +7

De novo insertion of an Alu sequence in the coding region of the CLCN5 gene results in Dent's disease

Félix Claverie-Martı́n, Hilaria González-Acosta, Carlos Flores et al. · Human Genetics · 2003 · 41 citations

Dental Conditions, Coding Region, Oral Cavity +9

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

Félix Claverie-Martı́n, Carlos Flores, Montserrat Antón-Gamero et al. · Journal of Human Genetics · 2005 · 34 citations · Full text

Genetic Disorder, Genetics, Pathology +6

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

Elena Ramos‐Trujillo, Hilaria González-Acosta, Carlos A. Flores et al. · Journal of Human Genetics · 2007 · 13 citations · Full text

New Clcn5 Mutations, Genetics, Pathogenesis +6