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8. Idiopathic hyperphosphatasia and TNFRSF11B mutations: relationships between phenotype and genotype. Chong B; Hegde M; Fawkner M; Simonet S; Cassinelli H; Coker M; Kanis J; Seidel J; Tau C; Tüysüz B; Yüksel B; Love D; J Bone Miner Res; 2003 Dec; 18(12):2095-104. PubMed ID: 14672344 [TBL] [Abstract][Full Text] [Related]
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10. An intermediate form of juvenile Paget's disease caused by a truncating TNFRSF11B mutation. Janssens K; de Vernejoul MC; de Freitas F; Vanhoenacker F; Van Hul W Bone; 2005 Mar; 36(3):542-8. PubMed ID: 15777670 [TBL] [Abstract][Full Text] [Related]
11. Loss of Functional Osteoprotegerin: More Than a Skeletal Problem. Grasemann C; Unger N; Hövel M; Arweiler-Harbeck D; Herrmann R; Schündeln MM; Müller O; Schweiger B; Lausch E; Meissner T; Kiewert C; Hauffa BP; Shaw NJ J Clin Endocrinol Metab; 2017 Jan; 102(1):210-219. PubMed ID: 27809640 [TBL] [Abstract][Full Text] [Related]
13. Juvenile Paget's Disease: Report of a successful treatment throughout the complete growth of a patient with a missense TNFRSF11B mutation. Prata AR; Saraiva J; Salgado M; Estanqueiro P Joint Bone Spine; 2021 Dec; 88(6):105243. PubMed ID: 34166796 [TBL] [Abstract][Full Text] [Related]
14. Establishment of a TNFRSF11B knock-out human induced pluripotent stem cell line (KSCBi002-B-2) via CRISPR/Cas9 system. Jeong J; Lee D; Park BC; Lee TH; Park SW Stem Cell Res; 2023 Sep; 71():103167. PubMed ID: 37481965 [TBL] [Abstract][Full Text] [Related]
15. Rhizomelia and Impaired Linear Growth in a Girl with Juvenile Paget Disease: The Natural History of the Condition. Höppner J; Steff K; Lobert F; Heyer CM; Hauffa BP; Grasemann C Horm Res Paediatr; 2021; 94(3-4):151-158. PubMed ID: 34261073 [TBL] [Abstract][Full Text] [Related]
16. Denosumab treatment for juvenile Paget's disease: results from two adult patients with osteoprotegerin deficiency ("Balkan" mutation in the TNFRSF11B gene). Polyzos SA; Singhellakis PN; Naot D; Adamidou F; Malandrinou FC; Anastasilakis AD; Polymerou V; Kita M J Clin Endocrinol Metab; 2014 Mar; 99(3):703-7. PubMed ID: 24433001 [TBL] [Abstract][Full Text] [Related]
17. A mutation in the gene TNFRSF11B encoding osteoprotegerin causes an idiopathic hyperphosphatasia phenotype. 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 Hum Mol Genet; 2002 Sep; 11(18):2119-27. PubMed ID: 12189164 [TBL] [Abstract][Full Text] [Related]
18. Acquired resistance to pamidronate treated effectively with zoledronate in juvenile Paget's disease. Gonc EN; Ozon A; Buyukyilmaz G; Alikasifoglu A; Simsek OP; Kandemir N Osteoporos Int; 2018 Jun; 29(6):1471-1474. PubMed ID: 29502293 [TBL] [Abstract][Full Text] [Related]
19. Deletion of aspartate 182 in OPG causes juvenile Paget's disease by impairing both protein secretion and binding to RANKL. Middleton-Hardie C; Zhu Q; Cundy H; Lin JM; Callon K; Tong PC; Xu J; Grey A; Cornish J; Naot D J Bone Miner Res; 2006 Mar; 21(3):438-45. PubMed ID: 16491292 [TBL] [Abstract][Full Text] [Related]
20. Osteoprotegerin deficiency and juvenile Paget's disease. Whyte MP; Obrecht SE; Finnegan PM; Jones JL; Podgornik MN; McAlister WH; Mumm S N Engl J Med; 2002 Jul; 347(3):175-84. PubMed ID: 12124406 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]