Laura Crisponi

Summary

Country: Italy

Publications

  1. ncbi Crisponi syndrome is caused by mutations in the CRLF1 gene and is allelic to cold-induced sweating syndrome type 1
    Laura Crisponi
    Istituto di Neurogenetica e Neurofarmacologia Consiglio Nazionale delle Ricerche, Cittadella Universitaria di Monserrato, Monserrato, Italy
    Am J Hum Genet 80:971-81. 2007
  2. ncbi A role of BRCA1 and BRCA2 germline mutations in breast cancer susceptibility within Sardinian population
    Grazia Palomba
    Istituto Chimica Biomolecolare CNR, Trav La Crucca Baldinca Li Punti, 07100 Sassari, Italy
    BMC Cancer 9:245. 2009
  3. ncbi Common variants in the SLCO1B3 locus are associated with bilirubin levels and unconjugated hyperbilirubinemia
    Serena Sanna
    Istituto di Neurogenetica e Neurofarmacologia del Consiglio Nazionale delle Ricerche, Monserrato, 09042 Cagliari, Italy
    Hum Mol Genet 18:2711-8. 2009
  4. ncbi Genome-wide association study shows BCL11A associated with persistent fetal hemoglobin and amelioration of the phenotype of beta-thalassemia
    Manuela Uda
    Istituto di Neurogenetica e Neurofarmacologia, Consiglio Nazionale delle Ricerche, Cittadella Universitaria di Monserrato, Monserrato, Cagliari, Italy
    Proc Natl Acad Sci U S A 105:1620-5. 2008

Collaborators

  • Antonio Cao
  • Goncalo R Abecasis
  • Joel N Hirschhorn
  • Anita Rauch
  • Frank Rutsch
  • Guillaume Lettre
  • Patrick F McArdle
  • Vijay G Sankaran
  • Bernd Wollnik
  • Serena Sanna
  • Manuela Uda
  • Grazia Palomba
  • Silvia Naitza
  • Andrea Maschio
  • Antonella Mulas
  • Maria Grazia Piras
  • Mariano Dei
  • Gianluca Usala
  • Lucia Perseu
  • David Schlessinger
  • Renzo Galanello
  • Sandra Lai
  • Fabio Busonero
  • Giuseppe Palmieri
  • Maria Cristina Santona
  • Angela Loi
  • Patrizia Fancello
  • Marco Masala
  • Maria Monne
  • Antonio Cossu
  • Sandra Orrù
  • Antonio Contu
  • Mario Lovicu
  • Antonella Uras
  • Carlo Floris
  • Attilio Gabbas
  • Gennaro Landriscina
  • Mario Budroni
  • Alan R Shuldiner
  • Giovanna Piras
  • Marina Pisano
  • Mara Marongiu
  • Antonio Farris
  • Francesco Tanda
  • Carla Sollaino
  • Giuseppe Albai
  • Manila Deiana
  • Maria Dolores Cipollina
  • Natascia Sestu
  • Weimin Chen
  • Ramaiah Nagaraja
  • Stuart H Orkin
  • Stefania Satta
  • Isadora Asunis
  • Paolo Moi

Detail Information

Publications4

  1. ncbi Crisponi syndrome is caused by mutations in the CRLF1 gene and is allelic to cold-induced sweating syndrome type 1
    Laura Crisponi
    Istituto di Neurogenetica e Neurofarmacologia Consiglio Nazionale delle Ricerche, Cittadella Universitaria di Monserrato, Monserrato, Italy
    Am J Hum Genet 80:971-81. 2007
    ..We suggest that the syndromes can comprise a family of "CNTF-receptor-related disorders," of which Crisponi syndrome would be the newest member and allelic to CISS1...
  2. ncbi A role of BRCA1 and BRCA2 germline mutations in breast cancer susceptibility within Sardinian population
    Grazia Palomba
    Istituto Chimica Biomolecolare CNR, Trav La Crucca Baldinca Li Punti, 07100 Sassari, Italy
    BMC Cancer 9:245. 2009
    ..The occurrence of phenotypic characteristics which may be predictive for the presence of BRCA1-2 germline mutations was also evaluated...
  3. ncbi Common variants in the SLCO1B3 locus are associated with bilirubin levels and unconjugated hyperbilirubinemia
    Serena Sanna
    Istituto di Neurogenetica e Neurofarmacologia del Consiglio Nazionale delle Ricerche, Monserrato, 09042 Cagliari, Italy
    Hum Mol Genet 18:2711-8. 2009
    ..Thus, SLC01B3 appears to be involved in the regulation of serum bilirubin levels in healthy individuals and in some bilirubin-related disorders that are only partially explained by other known gene variants...
  4. ncbi Genome-wide association study shows BCL11A associated with persistent fetal hemoglobin and amelioration of the phenotype of beta-thalassemia
    Manuela Uda
    Istituto di Neurogenetica e Neurofarmacologia, Consiglio Nazionale delle Ricerche, Cittadella Universitaria di Monserrato, Monserrato, Cagliari, Italy
    Proc Natl Acad Sci U S A 105:1620-5. 2008
    ..We expect our findings will help to characterize the molecular mechanisms of fetal globin regulation and could eventually contribute to the development of new therapeutic approaches for beta-thalassemia and sickle cell anemia...