Mariona Font-Llitjos

Summary

Country: Spain

Publications

  1. pmc Novel SLC7A7 large rearrangements in lysinuric protein intolerance patients involving the same AluY repeat
    Mariona Font-Llitjos
    Medical and Molecular Genetics Center, IDIBELL, Hospital Duran i Reynals, L Hospitalet de Llobregat, Barcelona, Spain
    Eur J Hum Genet 17:71-9. 2009
  2. ncbi request reprint Gene symbol: SLC7A7. Disease: Lysinuric protein intolerance
    Mariona Font-Llitjos
    IDIBELL, Centre de Genètica Mèdica i Molecular, Gran Via km 2, 7, S N, 08907 L Hospitalet de Llobregat, Spain
    Hum Genet 124:317. 2008
  3. ncbi request reprint Gene symbol: SLC7A7. Disease: Lysinuric protein intolerance
    Mariona Font-Llitjos
    IDIBELL, Centre de Genètica Mèdica i Molecular, Gran Via km 2, 7, S N, 08907 L Hospitalet de Llobregat, Spain
    Hum Genet 124:317. 2008
  4. ncbi request reprint Gene symbol: SLC7A7. Disease: Lysinuric protein intolerance
    Mariona Font-Llitjos
    IDIBELL, Centre de Genètica Mèdica i Molecular, Gran Via km 2, 7, S N, 08907 L Hospitalet de Llobregat, Spain
    Hum Genet 124:317. 2008
  5. ncbi request reprint Gene symbol: SLC7A7. Disease: Lysinuric protein intolerance
    Mariona Font-Llitjos
    IDIBELL, Centre de Genètica Mèdica i Molecular, Gran Via km 2, 7, S N, 08907 L Hospitalet de Llobregat, Spain
    Hum Genet 124:318. 2008
  6. ncbi request reprint Gene symbol: SLC7A7. Disease: Lysinuric protein intolerance
    Mariona Font-Llitjos
    IDIBELL, Centre de Genètica Mèdica i Molecular, Gran Via km 2, 7, S N, 08907 L Hospitalet de Llobregat, Spain
    Hum Genet 124:318. 2008
  7. ncbi request reprint Gene symbol: SLC7A7. Disease: Lysinuric protein intolerance
    Mariona Font-Llitjos
    IDIBELL, Centre de Genètica Mèdica i Molecular, Gran Via km 2, 7, S N, 08907 L Hospitalet de Llobregat, Spain
    Hum Genet 124:318-9. 2008
  8. ncbi request reprint Slc7a9 knockout mouse is a good cystinuria model for antilithiasic pharmacological studies
    Mariona Font-Llitjos
    Medical and Molecular Genetics Center, Institut d Investigacio Biomedica de Bellvitge, L Hospitalet de Llobregat, Barcelona, Spain
    Am J Physiol Renal Physiol 293:F732-40. 2007
  9. ncbi request reprint Gene symbol: SLC3A1. Disease: Cystinuria
    V Nunes
    Centre de Genètica Mèdica i Molecular IRO, Hospital Duran i Reynals, Barcelona, Spain
    Hum Genet 116:541. 2005

Detail Information

Publications9

  1. pmc Novel SLC7A7 large rearrangements in lysinuric protein intolerance patients involving the same AluY repeat
    Mariona Font-Llitjos
    Medical and Molecular Genetics Center, IDIBELL, Hospital Duran i Reynals, L Hospitalet de Llobregat, Barcelona, Spain
    Eur J Hum Genet 17:71-9. 2009
    ..1 to 21.4%. Moreover, the 3' region AluY repeat could be a recombination hot spot as it is involved in 38% of all SLC7A7 rearranged chromosomes described so far...
  2. ncbi request reprint Gene symbol: SLC7A7. Disease: Lysinuric protein intolerance
    Mariona Font-Llitjos
    IDIBELL, Centre de Genètica Mèdica i Molecular, Gran Via km 2, 7, S N, 08907 L Hospitalet de Llobregat, Spain
    Hum Genet 124:317. 2008
  3. ncbi request reprint Gene symbol: SLC7A7. Disease: Lysinuric protein intolerance
    Mariona Font-Llitjos
    IDIBELL, Centre de Genètica Mèdica i Molecular, Gran Via km 2, 7, S N, 08907 L Hospitalet de Llobregat, Spain
    Hum Genet 124:317. 2008
  4. ncbi request reprint Gene symbol: SLC7A7. Disease: Lysinuric protein intolerance
    Mariona Font-Llitjos
    IDIBELL, Centre de Genètica Mèdica i Molecular, Gran Via km 2, 7, S N, 08907 L Hospitalet de Llobregat, Spain
    Hum Genet 124:317. 2008
  5. ncbi request reprint Gene symbol: SLC7A7. Disease: Lysinuric protein intolerance
    Mariona Font-Llitjos
    IDIBELL, Centre de Genètica Mèdica i Molecular, Gran Via km 2, 7, S N, 08907 L Hospitalet de Llobregat, Spain
    Hum Genet 124:318. 2008
  6. ncbi request reprint Gene symbol: SLC7A7. Disease: Lysinuric protein intolerance
    Mariona Font-Llitjos
    IDIBELL, Centre de Genètica Mèdica i Molecular, Gran Via km 2, 7, S N, 08907 L Hospitalet de Llobregat, Spain
    Hum Genet 124:318. 2008
  7. ncbi request reprint Gene symbol: SLC7A7. Disease: Lysinuric protein intolerance
    Mariona Font-Llitjos
    IDIBELL, Centre de Genètica Mèdica i Molecular, Gran Via km 2, 7, S N, 08907 L Hospitalet de Llobregat, Spain
    Hum Genet 124:318-9. 2008
  8. ncbi request reprint Slc7a9 knockout mouse is a good cystinuria model for antilithiasic pharmacological studies
    Mariona Font-Llitjos
    Medical and Molecular Genetics Center, Institut d Investigacio Biomedica de Bellvitge, L Hospitalet de Llobregat, Barcelona, Spain
    Am J Physiol Renal Physiol 293:F732-40. 2007
    ..Our results validate the use of this mouse model for testing the efficacy of potential new drugs against cystinuria...
  9. ncbi request reprint Gene symbol: SLC3A1. Disease: Cystinuria
    V Nunes
    Centre de Genètica Mèdica i Molecular IRO, Hospital Duran i Reynals, Barcelona, Spain
    Hum Genet 116:541. 2005