Montserrat Antón-Gamero

Polycystic Kidney Disease with Hyperinsulinemic Hypoglycemia Caused by a Promoter Mutation in Phosphomannomutase 2

Óscar Rubio Cabezas, Sarah E. Flanagan, Horia Stanescu et al. · Journal of the American Society of Nephrology · 2017 · 111 citations · Full text

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

The clinical, biochemical and genetic features associated with <i>RMND1</i>-related mitochondrial disease

Yi Shiau Ng, Charlotte L. Alston, Daria Diodato et al. · Journal of Medical Genetics · 2016 · 48 citations · Full text

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