Intragenic SNP haplotypes associated with 84dup18 mutation in TNFRSF11A in four FEO pedigrees suggest three independent origins for this mutation
暂无分享,去创建一个
E. Elahi | F. Shahram | H. Goodarzi | Farnaz Absalan | A. Hughes | Sareh Asadi | Y. Shafaghati | M. Karimi-Nejad | Nava Gharaii
[1] I. Mařík,et al. Familial expansile osteolysis—not exclusively an adult disorder , 2006, Skeletal Radiology.
[2] Michael Krawczak,et al. Microdeletions and microinsertions causing human genetic disease: common mechanisms of mutagenesis and the role of local DNA sequence complexity , 2005, Human mutation.
[3] A. Khosravi,et al. Hereditary Bilateral Conductive Hearing Loss Caused by Total Loss of Ossicles: a Report of Familial Expansile Osteolysis , 2005, Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology.
[4] S. Ralston,et al. Genetics of Paget's disease of bone. , 1998, Clinical science.
[5] F.R.C.R. Malcolm D. Crone M.B.,et al. The radiographic features of familial expansile osteolysis , 2004, Skeletal Radiology.
[6] W. M. Park,et al. The diagnostic value of bone scintigraphy in patients with low back pain , 2004, Skeletal Radiology.
[7] S. Ralston,et al. Phenotypic Characterization of Early Onset Paget's Disease of Bone Caused by a 27‐bp Duplication in the TNFRSF11A Gene , 2003, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.
[8] M. Hansen,et al. Identification of a Novel Tandem Duplication in Exon 1 of the TNFRSF11A Gene in Two Unrelated Patients With Familial Expansile Osteolysis , 2003, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.
[9] I. Férnandez-Cadenas,et al. Familial expansile osteolysis in a large Spanish kindred resulting from an insertion mutation in the TNFRSF11A gene , 2002, Journal of medical genetics.
[10] W. Reinus,et al. Familial Expansile Osteolysis (Excessive RANK Effect) in a 5-Generation American Kindred , 2002, Medicine.
[11] M. Whyte,et al. Expansile Skeletal Hyperphosphatasia Is Caused by a 15‐Base Pair Tandem Duplication in TNFRSF11A Encoding RANK and Is Allelic to Familial Expansile Osteolysis , 2002, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.
[12] R. Wallace,et al. Mutations in TNFRSF11A, affecting the signal peptide of RANK, cause familial expansile osteolysis , 2000, Nature Genetics.
[13] S. Morony,et al. Tumor necrosis factor receptor family member RANK mediates osteoclast differentiation and activation induced by osteoprotegerin ligand. , 1999, Proceedings of the National Academy of Sciences of the United States of America.
[14] C. McMurray,et al. DNA secondary structure: a common and causative factor for expansion in human disease. , 1999, Proceedings of the National Academy of Sciences of the United States of America.
[15] Michael Ruogu Zhang,et al. Statistical features of human exons and their flanking regions. , 1998, Human molecular genetics.
[16] J. Weber,et al. Genetic linkage of familial expansile osteolysis to chromosome 18q. , 1994, Human molecular genetics.
[17] R. Wallace,et al. The radiographic features of familial expansile osteolysis , 1990, Skeletal radiology.