SEARCH

SEARCH BY CITATION

References

  • 1
    Online Mendelian Inheritance in Man, OMIM®. MIM #239000 [Internet]. Baltimore, MD: Johns Hopkins University; 1986 Jun 3 [updated 2006 Aug 18; cited 2013 Jan 18]. Available from: http://omim.org/entry/239000?search=239000&highlight=239000.
  • 2
    Whyte MP. Mendelian disorders of RANKL/OPG/RANK signaling. In: Thakker RV, Whyte MP, Eisman J, Igarashi T, editors. Genetics of bone biology and skeletal disease. San Diego, CA: Elsevier (Academic Press); p. 30923. 2013.
  • 3
    Bakwin H, Eiger MS., Fragile bones and macrocranium. J Pediatr. 1956; 49:55864.
  • 4
    Whyte MP, Obrecht SE, Finnegan PM, Jones JL, Podgornik MN, McAlister WH, Mumm S. Osteoprotegerin deficiency and juvenile Paget's disease. N Engl J Med. 2002; 347:17584.
  • 5
    Whyte MP, Singhellakis PN, Petersen MB, Davies M, Totty WG, Mumm S. Juvenile Paget's disease: the second reported, oldest patient is homozygous for the TNFRSF11B “Balkan” mutation (966_969deITGACinsCTT), which elevates circulating immunoreactive osteoprotegerin levels. J Bone Miner Res. 2007; 22:938–46.
  • 6
    Tau C, Mautalen C, Casco C, Alvarez V, Rubinstein M. Chronic idiopathic hyperphosphatasia: normalization of bone turnover with cyclical intravenous pamidronate therapy. Bone. 2004; 35:2106.
  • 7
    Cundy T, Hegde M, Naot D, Chong B, King A, Wallace R, Mulley J, Love DR, Seidel J, Fawkner M, Banovic T, Callon KE, Grey AB, Reid IR, Middleton-Hardie CA, Cornish J. A mutation in the gene TNFRSF11B encoding osteoprotegerin causes an idiopathic hyperphosphatasia phenotype. Hum Mol Genet. 2002; 11:211927.
  • 8
    Mitsudo SM. Chronic idiopathic hyperphosphatasia associated with pseudoxanthoma elasticum. J Bone Joint Surg Am. 1971; 53:30314.
  • 9
    Fretzin DF. Pseudoxanthoma elasticum in hyperphosphatasia. Arch Dermatol. 1975; 111:2712.
  • 10
    Sharif KW, Doig WM, Kinsella FP. Visual impairment in a case of juvenile Paget's disease with pseudoxanthoma elasticum: an eleven year follow up. J Pediatr Ophthalmol Strabismus. 1989; 26:299302.
  • 11
    Choremis C, Yannakos D, Papadatos C, Baroutsou E. Osteitis deformans (Paget's disease) in an 11 year old boy. Helv Paediatr Acta. 1958; 13:1858.
  • 12
    Morinaga T, Nakagawa N, Yasuda H, Tsuda E, Higashio K. Cloning and characterization of the gene encoding human osteoprotegerin/osteoclastogenesis-inhibitory factor. Eur J Biochem. 1998; 254:68591.
  • 13
    Mumm S, Banze S, Pettifor J, Tau C, Schmitt K, Ahmed A, Whyte MP. Juvenile Paget's disease: molecular analysis of TNFRSF11B encoding osteoprotegerin indicates homozygous deactivating mutations from consanguinity as the predominant etiology. J Bone Miner Res. 2003; 18(Suppl 2):S388.
  • 14
    Chong B, Hegde M, Fawkner M, Simonet S, Cassinelli H, Coker M, Kanis J, Seidel J, Tau C, Tüysüz B, Yüksel B, Love D. International Hyperphosphatasia Collaborative Group. Idiopathic hyperphosphatasia and TNFRSF11B mutations: relationships between phenotype and genotype. J Bone Miner Res. 2003; 18:2095104.
  • 15
    Reilly BJ, Leeming JM, Fraser D. Craniosynostosis in the rachitic spectrum. J Pediatr. 1964; 64:396405.
  • 16
    Mishal AA. Effects of different dress styles on vitamin D levels in healthy young Jordanian women. Osteoporosis Int. 2001; 12:9315.
  • 17
    Allali F, El Aichaoui S, Khazani H, Benyahia B, Saoud B, El Kabbaj S, Bahiri R, Abouqal R, Hajjaj-Hassouni N. High prevalence of hypovitaminosis D in Morocco: relationship to lifestyle, physical performance, bone markers, and bone mineral density. Semin Arthritis Rheum. 2009; 38:44451.
  • 18
    Nichols EK, Khatib IM, Aburto NJ, Sullivan KM, Scanlon KS, Wirth JP, Serdula MK. Vitamin D status and determinants of deficiency among non-pregnant Jordanian women of reproductive age. Eur J Clin Nutr. 2012; 66:7516.
  • 19
    Gannagé-Yared MH, Chemali R, Sfeir C, Maalouf G, Halaby G. Dietary calcium and vitamin D intake in an adult Middle Eastern population: food sources and relation to lifestyle and PTH. Int J Vitam Nutr Res. 2005; 75:2819.
  • 20
    Musaiger AO, Hassan AS, Obeid O. The paradox of nutrition-related diseases in the Arab countries: the need for action. Int J Environ Res Public Health. 2011; 8:363771.
  • 21
    Polyzos SA, Anastasilakis AD, Litsas I, Efstathiadou Z, Kita M, Arsos G, Moralidis E, Papatheodorou A, Terpos E. Profound hypocalcemia following effective response to zoledronic acid treatment in a patient with juvenile Paget's disease. J Bone Miner Metab. 2010; 28:70612.
  • 22
    Janssens K, de Vernejoul MC, de Freitas F, Vanhoenacker F, Van Hul W. An intermediate form of juvenile Paget's disease caused by a truncating TNFRSF11B mutation. Bone. 2005; 36:5428.
  • 23
    Simonet WS, Lacey DL, Dunstan CR, Kelley M, Chang MS, Lüthy R, Nguyen HQ, Wooden S, Bennett L, Boone T, Shimamoto G, DeRose M, Elliott R, Colombero A, Tan HL, Trail G, Sullivan J, Davy E, Bucay N, Renshaw-Gegg L, Hughes TM, Hill D, Pattison W, Campbell P, Sander S, Van G, Tarpley J, Derby P, Lee R, Boyle WJ. Osteoprotegerin: a novel secreted protein involved in the regulation of bone density. Cell. 1997; 89:30919.
  • 24
    Banner DW, D'Arcy A, Janes W, Gentz R, Schoenfeld HJ, Broger C, Loetscher H, Lesslauer W. Crystal structure of the soluble human 55 kd TNF receptor-human TNF beta complex: implications for TNF receptor activation. Cell. 1993; 73:43145.
  • 25
    Yamaguchi K, Kinosaki M, Goto M, Kobayashi F, Tsuda E, Morisaga T, Higashio K. Characterization of structural domains of human osteoclastogenesis inhibitory factor. J Biol Chem. 1998; 273:511723.
  • 26
    Venselaar H, Te Beek TA, Kuipers RK, Hekkelman ML, Vriend G. Protein structure analysis of mutations causing inheritable diseases. An e-Science approach with life scientist friendly interfaces. BMC Bioinformatics. 2010; 11:548.