Cristina Camprubí

Summary

Country: Spain

Publications

  1. ncbi request reprint [From the clinical to the genetic diagnosis of Prader-Willi and Angelman syndromes]
    C Camprubí-Sánchez
    Facultat de Ciencies, Universitat Autonoma de Barcelona, E 08193 Bellaterra Barcelona
    Rev Neurol 42:S61-7. 2006
  2. ncbi request reprint Imprinting center analysis in Prader-Willi and Angelman syndrome patients with typical and atypical phenotypes
    Cristina Camprubí
    Unitat de Biologia Cel lular, Facultat de Ciencies, Universitat Autonoma de Barcelona, Bellaterra, Spain
    Eur J Med Genet 50:11-20. 2007
  3. doi request reprint Novel UBE3A mutations causing Angelman syndrome: different parental origin for single nucleotide changes and multiple nucleotide deletions or insertions
    Cristina Camprubí
    Unitat de Biologia Cel lular, Facultat de Biociencies, Universitat Autonoma de Barcelona, Bellaterra, Spain
    Am J Med Genet A 149:343-8. 2009
  4. doi request reprint [Prader Willi syndrome patients: study of 77 patients]
    David Poyatos
    Unitat de Biologia Cellular, Facultat de Biociencies, Universitat Autonoma de Barcelona, Barcelona, Espana
    Med Clin (Barc) 133:649-56. 2009
  5. pmc Semen samples showing an increased rate of spermatozoa with imprinting errors have a negligible effect in the outcome of assisted reproduction techniques
    Cristina Camprubí
    Unitat de Biologia Cel lular, Universitat Autonoma de Barcelona, Cerdanyola del Valles, Spain
    Epigenetics 7:1115-24. 2012

Collaborators

Detail Information

Publications5

  1. ncbi request reprint [From the clinical to the genetic diagnosis of Prader-Willi and Angelman syndromes]
    C Camprubí-Sánchez
    Facultat de Ciencies, Universitat Autonoma de Barcelona, E 08193 Bellaterra Barcelona
    Rev Neurol 42:S61-7. 2006
    ..The physical or functional absence of genes that are only expressed by the mother's chromosome 15 causes PWS and gentic anomalies which affects the UBE3A gen mother's copy causes AS...
  2. ncbi request reprint Imprinting center analysis in Prader-Willi and Angelman syndrome patients with typical and atypical phenotypes
    Cristina Camprubí
    Unitat de Biologia Cel lular, Facultat de Ciencies, Universitat Autonoma de Barcelona, Bellaterra, Spain
    Eur J Med Genet 50:11-20. 2007
    ..The methylation pattern of two AS patients showed a faint maternal band corresponding to a mosaic ID. One of these mosaic patients displayed a mild AS phenotype while the other displayed a PWS-like phenotype...
  3. doi request reprint Novel UBE3A mutations causing Angelman syndrome: different parental origin for single nucleotide changes and multiple nucleotide deletions or insertions
    Cristina Camprubí
    Unitat de Biologia Cel lular, Facultat de Biociencies, Universitat Autonoma de Barcelona, Bellaterra, Spain
    Am J Med Genet A 149:343-8. 2009
    ..Additionally, there seems to be a different distribution of nucleotide changes and multiple nucleotide deletions or insertions along the UBE3A gene sequence...
  4. doi request reprint [Prader Willi syndrome patients: study of 77 patients]
    David Poyatos
    Unitat de Biologia Cellular, Facultat de Biociencies, Universitat Autonoma de Barcelona, Barcelona, Espana
    Med Clin (Barc) 133:649-56. 2009
    ..We present the results obtained in the transverse clinical - genetic study of 77 PWS patients...
  5. pmc Semen samples showing an increased rate of spermatozoa with imprinting errors have a negligible effect in the outcome of assisted reproduction techniques
    Cristina Camprubí
    Unitat de Biologia Cel lular, Universitat Autonoma de Barcelona, Cerdanyola del Valles, Spain
    Epigenetics 7:1115-24. 2012
    ..Individuals included in normal and abnormal methylation clusters were compared according to seminal parameters as well as to the outcome of assisted reproduction...