Mart́inez-Glez, V́ictor

Top Publications

Top Publications Authored or Co-Authored by "Mart́inez-Glez, V́ictor"

• Identification of a frameshift mutation in osterix in a patient with recessive osteogenesis imperfecta

  American Journal of Human Genetics, Volume 87, No. 1, Year 2010, Citations 265
• Identification of a mutation causing deficient BMP1/mTLD proteolytic activity in autosomal recessive osteogenesis imperfecta

  Human Mutation, Volume 33, No. 2, Year 2012, Citations 194
• Mutations in PLOD2 cause autosomal-recessive connective tissue disorders within the Bruck syndrome-Osteogenesis imperfecta phenotypic spectrum

  Human Mutation, Volume 33, No. 10, Year 2012, Citations 93
• Clinical and molecular analysis in families with autosomal recessive osteogenesis imperfecta identifies mutations in five genes and suggests genotype-phenotype correlations

  American Journal of Medical Genetics, Part A, Volume 161, No. 6, Year 2013, Citations 43
• Molecular spectrum and differential diagnosis in patients referred with sporadic or autosomal recessive osteogenesis imperfecta

  Molecular Genetics and Genomic Medicine, Volume 5, No. 1, Year 2017, Citations 43