Al-Aqeel, Aida Imbrahim

Top Publications

Top Publications Authored or Co-Authored by "Al-Aqeel, Aida Imbrahim"

• Mutation of the matrix metalloproteinase 2 gene (MMP2) causes a multicentric osteolysis and arthritis syndrome

  Nature Genetics, Volume 28, No. 3, Year 2001, Citations 308
• Loss of MMP-2 disrupts skeletal and craniofacial development and results in decreased bone mineralization, joint erosion and defects in osteoblast and osteoclast growth

  Human Molecular Genetics, Volume 16, No. 9, Year 2007, Citations 217
• Mutations in FKBp10, which result in bruck syndrome and recessive forms of osteogenesis imperfecta, inhibit the hydroxylation of telopeptide lysines in bone collagen

  Human Molecular Genetics, Volume 22, No. 1, Article dds371, Year 2013, Citations 123
• Vitamin D-dependency rickets type II: truncated vitamin D receptor in three kindreds

  Molecular and Cellular Endocrinology, Volume 90, No. 2, Year 1993, Citations 68
• Mutation of TBCE causes hypoparathyroidism-retardation-dysmorphism and autosomal recessive Kenny-Caffey Syndrome

  Nature Genetics, Volume 32, No. 3, Year 2002, Citations 62