Xose M Lens

Summary

Country: Spain

Publications

  1. ncbi 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 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. ncbi 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
  4. ncbi 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

Collaborators

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

Detail Information

Publications4

  1. ncbi 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 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. ncbi 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...
  4. ncbi 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...