Genomes and Genes

Species

Cristina Camprubí

Summary

Country: Spain

Publications

  1. Camprubí C, Coll M, Villatoro S, Gabau E, Kamli A, Martínez M, et al. Imprinting center analysis in Prader-Willi and Angelman syndrome patients with typical and atypical phenotypes. Eur J Med Genet. 2007;50:11-20 pubmed
    ..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. ..
  2. Camprubí C, Guitart M, Gabau E, Coll M, Villatoro S, Oltra S, et al. Novel UBE3A mutations causing Angelman syndrome: different parental origin for single nucleotide changes and multiple nucleotide deletions or insertions. Am J Med Genet A. 2009;149A:343-8 pubmed publisher
    ..Additionally, there seems to be a different distribution of nucleotide changes and multiple nucleotide deletions or insertions along the UBE3A gene sequence. ..