Casals, Teresa

Top Publications

Top Publications Authored or Co-Authored by "Casals, Teresa"

• Gross genomic rearrangements involving deletions in the CFTR gene: characterization of six new events from a large cohort of hitherto unidentified cystic fibrosis chromosomes and meta-analysis of the underlying mechanisms

  European Journal of Human Genetics, Volume 14, No. 5, Year 2006, Citations 94
• Complete ascertainment of intragenic copy number mutations (CNMs) in the CFTR Gene and its implications for CNM formation at other autosomal loci

  Human Mutation, Volume 31, No. 4, Year 2010, Citations 32
• Haplotype analysis to determine the position of a mutation among closely linked DNA markers

  Human Molecular Genetics, Volume 2, No. 7, Year 1993, Citations 24
• Complex allele [-102T>A+S549R(T>G)] is associated with milder forms of cystic fibrosis than allele S549R(T>G) alone

  Human Genetics, Volume 105, No. 1-2, Year 1999, Citations 14
• Scrfl restriction fragment length polymorphism at the D7S23 locus (probe pKM.19), closely linked to cystic fibrosis

  Nucleic Acids Research, Volume 18, No. 5, Year 1990, Citations 4