Publicacións en colaboración con investigadores/as de Complexo Hospitalario Universitario de Santiago (24)

2013

  1. A novel mutation, outside of the candidate region for diagnosis, in the inverted formin 2 gene can cause focal segmental glomerulosclerosis

    Kidney International, Vol. 83, Núm. 1, pp. 153-159

2008

  1. Genomic organization and mutation screening of the human ortholog of Pkdr1 associated with polycystic kidney disease in the rat

    European Journal of Medical Genetics, Vol. 51, Núm. 4, pp. 325-331

2007

  1. Evaluating the clinical utility of a molecular genetic test for polycystic kidney disease

    Molecular Genetics and Metabolism, Vol. 92, Núm. 1-2, pp. 160-167

  2. Study of candidate genes affecting the progression of renal disease in autosomal dominant polycystic kidney disease type 1

    Nephrology Dialysis Transplantation, Vol. 22, Núm. 6, pp. 1567-1577

2005

  1. A comparative study of three kidney biomarker tests in autosomal-dominant polycystic kidney disease

    Kidney International, Vol. 68, Núm. 3, pp. 948-954

  2. A novel pattern of mutation in uromodulin disorders: Autosomal dominant medullary cystic kidney disease type 2, familial juvenile hyperuricemic nephropathy, and autosomal dominant glomerulocystic kidney disease

    American Journal of Kidney Diseases, Vol. 46, Núm. 1, pp. 52-57

2004

  1. Homozygosity for uromodulin disorders: FJHN and MCKD-type 2

    Kidney International, Vol. 66, Núm. 2, pp. 558-563

2003

  1. ENOS polymorphism and renal disease progression in autosomal dominant polycystic kidney disease [3] (multiple letters)

    American Journal of Kidney Diseases

  2. Poliquistosis renal autosómica recesiva

    Nefrologia, Vol. 23, Núm. SUPPL.1, pp. 23-28

2002

  1. Modifier effect of ENOS in autosomal dominant polycystic kidney disease

    Human Molecular Genetics, Vol. 11, Núm. 3, pp. 229-241

2000

  1. Long-term anti-proteinuric effect of Losartan in renal transplant recipients treated for hypertension

    Nephrology Dialysis Transplantation, Vol. 15, Núm. 1, pp. 82-86

1999

  1. Aberrant splicing in the PKD2 gene as a cause of polycystic kidney disease

    Journal of the American Society of Nephrology, Vol. 10, Núm. 11, pp. 2342-2351

  2. Cortical nephrocalcinosis induced by extracorporeal shock wave lithotripsy [3]

    Nephron

  3. Secondary hyperparathyroidism exacerbation: A rare side-effect of interferon-alpha?

    Clinical Nephrology, Vol. 51, Núm. 4, pp. 248-251

  4. Utilidad de la anfotericina B liposomial (AmBisome®) en la aspergilosis invasiva

    Nefrologia

1998

  1. Renal failure in multiple myeloma: Presenting features and predictors of outcome in 94 patients from a single institution

    Archives of Internal Medicine, Vol. 158, Núm. 17, pp. 1889-1893

  2. Voluntary ingestion of Cortinarius mushrooms leading to chronic interstitial nephritis

    American Journal of Nephrology, Vol. 18, Núm. 6, pp. 565-569

1997

  1. An integrated genetic and physical map of the autosomal recessive polycystic kidney disease region

    Genomics, Vol. 41, Núm. 3, pp. 463-466

  2. An unusual pattern of mutation in the duplicated portion of PKD1 is revealed by use of a novel strategy for mutation detection

    Human Molecular Genetics, Vol. 6, Núm. 9, pp. 1473-1481

  3. Novel stop and frameshifting mutations in the autosomal dominant polycystic kidney disease 2 (PKD2) gene

    Human Genetics, Vol. 101, Núm. 2, pp. 229-234