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List of works by Leire Madariaga

CA-125 levels in predicting optimal cytoreductive surgery in patients with advanced epithelial ovarian carcinoma

scientific article published in February 2004

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

scientific article

Genetics of type III Bartter syndrome in Spain, proposed diagnostic algorithm

scientific article

Hypophosphataemic Rickets: Similar Phenotype of Different Diseases

scientific article published on 31 March 2020

Identification of a novel large CASR deletion in a patient with familial hypocalciuric hypercalcemia

scientific article published on 05 December 2018

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

scientific article published on 01 September 2020

Novel mutations associated with inherited human calcium-sensing receptor disorders: a clinical genetic study

article

Novel mutations associated with nephrogenic diabetes insipidus. A clinical-genetic study

scientific article published on 23 April 2015

Novel variant in the CNNM2 gene associated with dominant hypomagnesemia

scientific article published on 30 September 2020

Poor phenotype-genotype association in a large series of patients with Type III Bartter syndrome

scientific article

RenalTube: a network tool for clinical and genetic diagnosis of primary tubulopathies

scientific article published on 7 February 2013

Response to Letter to the Editor: "Forty-One Individuals With Mutations in the AVP-NPII Gene Associated With Familial Neurohypophyseal Diabetes Insipidus"

scientific article published on 11 May 2020

Risk of cardiovascular involvement in pediatric patients with X-linked hypophosphatemia

scientific article published on 04 January 2019

Severe prenatal renal anomalies associated with mutations in HNF1B or PAX2 genes.

scientific article published on 28 March 2013

Variable phenotype in HNF1B mutations: extrarenal manifestations distinguish affected individuals from the population with congenital anomalies of the kidney and urinary tract

scientific article published on 13 November 2018

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