Laura Crisponi

Summary

Country: Italy

Publications

  1. pmc Reproductive aging-associated common genetic variants and the risk of breast cancer
    Chunyan He
    Department of Public Health, Indiana University School of Medicine, 980 West Walnut Street, R3 C241, Indianapolis, IN 46202, USA
    Breast Cancer Res 14:R54. 2012
  2. pmc 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
  3. pmc 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
  4. pmc 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
  5. pmc 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

  • Goncalo R Abecasis
  • Guillaume Lettre
  • Joel N Hirschhorn
  • Anita Rauch
  • Frank Rutsch
  • Patrick F McArdle
  • Antonio Cao
  • Vijay G Sankaran
  • Bernd Wollnik
  • Serena Sanna
  • Manuela Uda
  • Chunyan He
  • Giuseppe Palmieri
  • Grazia Palomba
  • Antonella Mulas
  • Lucia Perseu
  • Fabio Busonero
  • Sandra Lai
  • David Schlessinger
  • Maria Grazia Piras
  • Gianluca Usala
  • Renzo Galanello
  • Andrea Maschio
  • Mariano Dei
  • Silvia Naitza
  • Joanne M Murabito
  • Nora Franceschini
  • Albert Hofman
  • Ellen W Demerath
  • Shih Jen Hwang
  • David J Hunter
  • Eleonora Porcu
  • Lindsay Fernández-Rhodes
  • Kathryn L Lunetta
  • Jill Dreyfus
  • Andre G Uitterlinden
  • Lisette Stolk
  • Lynda M Rose
  • Bruno H Stricker
  • Daniel I Chasman
  • Julie E Buring
  • Paul M Ridker
  • Susan E Hankinson
  • Stephen J Chanock
  • Greta L Splansky
  • Rikje Ruiter
  • Fernando Rivadeneira
  • Patrizia Fancello
  • Maria Cristina Santona
  • Alan R Shuldiner
  • Giovanna Piras
  • Marco Masala
  • Mario Lovicu
  • Marina Pisano
  • Maria Monne
  • Attilio Gabbas
  • Angela Loi
  • Mario Budroni
  • Antonio Contu
  • Gennaro Landriscina
  • Antonio Cossu
  • Antonio Farris
  • Francesco Tanda
  • Antonella Uras
  • Carlo Floris
  • Mara Marongiu
  • Sandra Orrù
  • Stefania Satta
  • Paolo Moi
  • Carla Sollaino
  • Ramaiah Nagaraja
  • Giuseppe Albai
  • Weimin Chen
  • Manila Deiana
  • Maria Dolores Cipollina
  • Isadora Asunis
  • Stuart H Orkin
  • Natascia Sestu

Detail Information

Publications5

  1. pmc Reproductive aging-associated common genetic variants and the risk of breast cancer
    Chunyan He
    Department of Public Health, Indiana University School of Medicine, 980 West Walnut Street, R3 C241, Indianapolis, IN 46202, USA
    Breast Cancer Res 14:R54. 2012
    ..Recent genome-wide association studies have identified several novel genetic loci associated with these two traits. However, the association between these loci and breast cancer risk is unknown...
  2. pmc 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...
  3. pmc 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...
  4. pmc 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...
  5. pmc 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...