Gemma Ariceta Iraola-rekin lankidetzan egindako argitalpenak (34)

2024

  1. Dilated Cardiomyopathy With Concomitant Salt-Losing Renal Tubulopathy Caused by Heterozygous RRAGD Gene Variant

    Circulation: Genomic and Precision Medicine, Vol. 17, Núm. 2, pp. E004336

  2. Metabolic Acidosis Is Associated With an Accelerated Decline of Allograft Function in Pediatric Kidney Transplantation

    Kidney International Reports, Vol. 9, Núm. 6, pp. 1684-1693

2023

  1. Clinical and genetic characteristics of Dent's disease type 1 in Europe

    Nephrology Dialysis Transplantation, Vol. 38, Núm. 6, pp. 1497-1507

  2. Diagnostic and therapeutic management of vesico-ureteral reflux in pediatric kidney transplantation—Results of an online survey on behalf of the European Society for Paediatric Nephrology

    Pediatric Transplantation, Vol. 27, Núm. 2

  3. Rituximab-associated hypogammaglobulinemia in children with idiopathic nephrotic syndrome: results of an ESPN survey

    Pediatric Nephrology, Vol. 38, Núm. 9, pp. 3035-3042

  4. Treatment and long-term outcome in primary nephrogenic diabetes insipidus

    Nephrology Dialysis Transplantation, Vol. 38, Núm. 10, pp. 2120-2130

2022

  1. Clinical and genetic characterization of a cohort of proteinuric patients with biallelic CUBN variants

    Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association, Vol. 37, Núm. 10, pp. 1906-1915

  2. Clinical utility of genetic testing in early-onset kidney disease: Seven genes are the main players

    Nephrology Dialysis Transplantation, Vol. 37, Núm. 4, pp. 687-696

  3. Parathyroid hormone and phosphate homeostasis in patients with Bartter and Gitelman syndrome: an international cross-sectional study

    Nephrology Dialysis Transplantation, Vol. 37, Núm. 12, pp. 2474-2486

2021

  1. Correction to: Phenotypic characterization of X-linked hypophosphatemia in pediatric Spanish population (Orphanet Journal of Rare Diseases, (2021), 16, 1, (104), 10.1186/s13023-021-01729-0)

    Orphanet Journal of Rare Diseases

  2. Familial hypomagnesemia with hypercalciuria and nephrocalcinosis

    Pediatric Nephrology, Vol. 36, Núm. 10, pp. 3045-3055

  3. Molecular aspects and long-term outcome of patients with primary distal renal tubular acidosis

    Pediatric Nephrology, Vol. 36, Núm. 10, pp. 3133-3142

  4. Phenotypic characterization of X-linked hypophosphatemia in pediatric Spanish population

    Orphanet Journal of Rare Diseases, Vol. 16, Núm. 1

2020

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

    Molecular Genetics and Genomic Medicine, Vol. 8, Núm. 11

2019

  1. Novel mutations associated with inherited human calcium-sensing receptor disorders: A clinical genetic study

    European journal of endocrinology, Vol. 180, Núm. 1, pp. 59-70

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

    Pediatric Nephrology, Vol. 34, Núm. 6, pp. 1077-1086

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

    Clinical Kidney Journal, Vol. 12, Núm. 3, pp. 373-379

2018

  1. A kidney-disease gene panel allows a comprehensive genetic diagnosis of cystic and glomerular inherited kidney diseases

    Kidney International, Vol. 94, Núm. 2, pp. 363-371

  2. Distal renal tubular acidosis. Clinical manifestations in patients with different underlying gene mutations

    Pediatric Nephrology, Vol. 33, Núm. 9, pp. 1523-1529

2017

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

    PLoS ONE, Vol. 12, Núm. 3