G Pilia

Summary

Affiliation: University of Cagliari
Country: Italy

Publications

  1. ncbi request reprint Jagged-1 mutation analysis in Italian Alagille syndrome patients
    G Pilia
    Istituto di Ricerca sulle Talassemie ed Anemie Mediterranee CNR, Cagliari, Italy
    Hum Mutat 14:394-400. 1999
  2. ncbi request reprint The putative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndrome
    L Crisponi
    Istituto di Ricerca sulle Talassemie ed Anemie Mediterranee CNR, and Dipartimento di Scienze Biomediche e Biotecnologie, Ospedale Regionale per le Microcitemie, Universita degli Studi di Cagliari, Cagliari, Italy
    Nat Genet 27:159-66. 2001
  3. ncbi request reprint A novel delta-thalassemia mutation A G-->C substitution at codon 30 of the delta-globin gene in a person of southern Italian origin
    G Loudianos
    Istituto di Clinica e Biologia dell Età Evolutiva, Universita degli Studi di Cagliari, Italy
    Hum Mutat 1:169-71. 1992
  4. ncbi request reprint Mutations in GPC3, a glypican gene, cause the Simpson-Golabi-Behmel overgrowth syndrome
    G Pilia
    Center for Genetics in Medicine, Washington University School of Medicine, St Louis, Missouri 63110, USA
    Nat Genet 12:241-7. 1996
  5. ncbi request reprint Gpc3 expression correlates with the phenotype of the Simpson-Golabi-Behmel syndrome
    M Pellegrini
    Dipartimento di Scienze Morfologiche e Medico Legali, Modena University, Italy
    Dev Dyn 213:431-9. 1998
  6. ncbi request reprint Glypican 3 and glypican 4 are juxtaposed in Xq26.1
    R Huber
    Laboratory of Genetics, National Institute on Aging, NIH, Baltimore MD 21224
    Gene 225:9-16. 1998

Collaborators

Detail Information

Publications6

  1. ncbi request reprint Jagged-1 mutation analysis in Italian Alagille syndrome patients
    G Pilia
    Istituto di Ricerca sulle Talassemie ed Anemie Mediterranee CNR, Cagliari, Italy
    Hum Mutat 14:394-400. 1999
    ..Furthermore, our data confirmed the absence of a correlation between the genotype of the JAG1 gene and the AGS phenotype...
  2. ncbi request reprint The putative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndrome
    L Crisponi
    Istituto di Ricerca sulle Talassemie ed Anemie Mediterranee CNR, and Dipartimento di Scienze Biomediche e Biotecnologie, Ospedale Regionale per le Microcitemie, Universita degli Studi di Cagliari, Cagliari, Italy
    Nat Genet 27:159-66. 2001
    ..FOXL2 represents a candidate gene for the polled/intersex syndrome XX sex-reversal goat...
  3. ncbi request reprint A novel delta-thalassemia mutation A G-->C substitution at codon 30 of the delta-globin gene in a person of southern Italian origin
    G Loudianos
    Istituto di Clinica e Biologia dell Età Evolutiva, Universita degli Studi di Cagliari, Italy
    Hum Mutat 1:169-71. 1992
  4. ncbi request reprint Mutations in GPC3, a glypican gene, cause the Simpson-Golabi-Behmel overgrowth syndrome
    G Pilia
    Center for Genetics in Medicine, Washington University School of Medicine, St Louis, Missouri 63110, USA
    Nat Genet 12:241-7. 1996
    ..Initial western- and ligand-blotting experiments suggest that glypican 3 forms a complex with insulin-like growth factor 2 (IGF2), and might thereby modulate IGF2 action...
  5. ncbi request reprint Gpc3 expression correlates with the phenotype of the Simpson-Golabi-Behmel syndrome
    M Pellegrini
    Dipartimento di Scienze Morfologiche e Medico Legali, Modena University, Italy
    Dev Dyn 213:431-9. 1998
    ..In agreement with predictions, the gene is expressed in precisely the organs that overgrow in its absence; and the patterns of expression of Gpc3 and those reported for Igf2 are strictly correlated...
  6. ncbi request reprint Glypican 3 and glypican 4 are juxtaposed in Xq26.1
    R Huber
    Laboratory of Genetics, National Institute on Aging, NIH, Baltimore MD 21224
    Gene 225:9-16. 1998
    ..This patient shows a complex phenotype, including the unusual feature of hydrocephalus; but because an uncle with SGBS is less affected, it remains unclear whether the GPC4 deletion itself contributes to the phenotype...