Xose M Lens

Summary

Country: Spain

Publications

  1. ncbi request reprint 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
    Xose M Lens
    Laboratorio de Investigación en Nefroloxía, Complexo Hospitalario Universitario de Santiago, Santiago de Compostela, Spain
    Am J Kidney Dis 46:52-7. 2005
  2. ncbi request reprint Homozygosity for uromodulin disorders: FJHN and MCKD-type 2
    Wânia Rezende-Lima
    Laboratorio de Investigación en Nefroloxía, Complexo Hospitalario Universitario de Santiago, Santiago de Compostela, Spain
    Kidney Int 66:558-63. 2004
  3. doi request reprint A novel mutation, outside of the candidate region for diagnosis, in the inverted formin 2 gene can cause focal segmental glomerulosclerosis
    Maria Sanchez-Ares
    Laboratory of Nephrology, Sanitary Research Institute IDIS, Santiago de Compostela, Spain
    Kidney Int 83:153-9. 2013
  4. pmc Evaluating the clinical utility of a molecular genetic test for polycystic kidney disease
    Miguel A Garcia-Gonzalez
    Johns Hopkins University School of Medicine, Department of Medicine, Division of Nephrology, Baltimore, MD 21205, USA, and Laboratorio de Investigación en Nefroloxía, Complexo Hospitalario Universitario de Santiago, Santiago de Compostela, Spain
    Mol Genet Metab 92:160-7. 2007
  5. ncbi request reprint A comparative study of three kidney biomarker tests in autosomal-dominant polycystic kidney disease
    J Antonio Casal
    Central Laboratory, Hospital Clinico Universitario, Santiago de Compostela, Spain
    Kidney Int 68:948-54. 2005

Collaborators

  • York Pei
  • Miguel A Garcia-Gonzalez
  • Maria Sanchez-Ares
  • J Antonio Casal
  • Wânia Rezende-Lima
  • Vazquez Martul Eduardo
  • Pardo Julio
  • Espinosa Estevez Antucho
  • Marina Garcia-Vidal
  • Zheng Lan
  • Jeffrey G Jones
  • William K Seltzer
  • Sat D Batish
  • Susan K Allen
  • Christopher M Palatucci
  • Terry J Watnick
  • Erica Allen
  • Feng Qian
  • Gregory G Germino
  • J Carlos Tutor
  • Jesus Hermida
  • Eva Riveira
  • Kleber S Parreira
  • Julio F Banet
  • Miguel Garcia-Gonzalez

Detail Information

Publications5

  1. ncbi request reprint 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
    Xose M Lens
    Laboratorio de Investigación en Nefroloxía, Complexo Hospitalario Universitario de Santiago, Santiago de Compostela, Spain
    Am J Kidney Dis 46:52-7. 2005
    ..Based on such mutation clustering, some investigators have proposed that the sequencing of UMOD exon 4 might become a preliminary diagnostic test for patients with this phenotype...
  2. ncbi request reprint Homozygosity for uromodulin disorders: FJHN and MCKD-type 2
    Wânia Rezende-Lima
    Laboratorio de Investigación en Nefroloxía, Complexo Hospitalario Universitario de Santiago, Santiago de Compostela, Spain
    Kidney Int 66:558-63. 2004
    ..Mutations of the UMOD gene, disrupting the tertiary structure of uromodulin, cause MCKD2 and FJHN...
  3. doi request reprint A novel mutation, outside of the candidate region for diagnosis, in the inverted formin 2 gene can cause focal segmental glomerulosclerosis
    Maria Sanchez-Ares
    Laboratory of Nephrology, Sanitary Research Institute IDIS, Santiago de Compostela, Spain
    Kidney Int 83:153-9. 2013
    ..Thus, this novel mutation in INF2 linked to nonsyndromic FSGS indicates the necessity for full gene sequencing if no mutation is found in the current rapid-screen region of the gene...
  4. pmc Evaluating the clinical utility of a molecular genetic test for polycystic kidney disease
    Miguel A Garcia-Gonzalez
    Johns Hopkins University School of Medicine, Department of Medicine, Division of Nephrology, Baltimore, MD 21205, USA, and Laboratorio de Investigación en Nefroloxía, Complexo Hospitalario Universitario de Santiago, Santiago de Compostela, Spain
    Mol Genet Metab 92:160-7. 2007
    ..We conclude that a significant fraction of ADPKD mutations are caused by amino acid substitutions that need to be interpreted carefully when utilized in clinical decision-making...
  5. ncbi request reprint A comparative study of three kidney biomarker tests in autosomal-dominant polycystic kidney disease
    J Antonio Casal
    Central Laboratory, Hospital Clinico Universitario, Santiago de Compostela, Spain
    Kidney Int 68:948-54. 2005
    ..The relationship between the progress of tubular damage and renal insufficiency in autosomal-dominant polycystic kidney disease (ADPKD) is a subject of doubtless interest, and is the object of this present work...