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Items: 1 to 20 of 61

1.

Genotype-phenotype correlation in juvenile Paget disease: role of molecular alterations of the TNFRSF11B gene.

Brunetti G, Marzano F, Colucci S, Ventura A, Cavallo L, Grano M, Faienza MF.

Endocrine. 2012 Oct;42(2):266-71. Epub 2012 May 26. Review.

PMID:
22638612
2.

Juvenile paget's disease in an Iranian kindred with vitamin D deficiency and novel homozygous TNFRSF11B mutation.

Saki F, Karamizadeh Z, Nasirabadi S, Mumm S, McAlister WH, Whyte MP.

J Bone Miner Res. 2013 Jun;28(6):1501-8. doi: 10.1002/jbmr.1868.

3.

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; International Hyperphosphatasia Collaborative Group.

J Bone Miner Res. 2003 Dec;18(12):2095-104.

5.

[Cytokines in bone diseases. Osteoprotegerin and juvenile Paget's disease].

Hosogane N, Miyamoto T.

Clin Calcium. 2010 Oct;20(10):1540-4. doi: CliCa101015401544. Review. Japanese.

PMID:
20890037
6.

Novel homozygous mutations in the osteoprotegerin gene TNFRSF11B in two unrelated patients with juvenile Paget's disease.

Naot D, Choi A, Musson DS, Simsek Kiper PÖ, Utine GE, Boduroglu K, Peacock M, DiMeglio LA, Cundy T.

Bone. 2014 Nov;68:6-10. doi: 10.1016/j.bone.2014.07.034. Epub 2014 Aug 6.

PMID:
25108083
7.

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.

PMID:
15777670
8.

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 1;11(18):2119-27.

PMID:
12189164
9.

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 1;102(1):210-219. doi: 10.1210/jc.2016-2905.

PMID:
27809640
10.

Auricular ossification: A newly recognized feature of osteoprotegerin-deficiency juvenile Paget disease.

Gottesman GS, Madson KL, McAlister WH, Nenninger A, Wenkert D, Mumm S, Whyte MP.

Am J Med Genet A. 2016 Apr;170A(4):978-85. doi: 10.1002/ajmg.a.37536. Epub 2016 Jan 14. Review.

11.

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. Epub 2005 Nov 14.

12.

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 18;347(3):175-84.

13.

Susceptibility to Paget's disease of bone is influenced by a common polymorphic variant of osteoprotegerin.

Daroszewska A, Hocking LJ, McGuigan FE, Langdahl B, Stone MD, Cundy T, Nicholson GC, Fraser WD, Ralston SH.

J Bone Miner Res. 2004 Sep;19(9):1506-11. Epub 2004 Jun 14.

14.

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. doi: 10.1210/jc.2013-3762. Epub 2014 Jan 16.

PMID:
24433001
15.

Juvenile Paget's disease with heterozygous duplication within TNFRSF11A encoding RANK.

Whyte MP, Tau C, McAlister WH, Zhang X, Novack DV, Preliasco V, Santini-Araujo E, Mumm S.

Bone. 2014 Nov;68:153-61. doi: 10.1016/j.bone.2014.07.019. Epub 2014 Jul 23.

16.

Contribution of genetic factors to the pathogenesis of Paget's disease of bone and related disorders.

Lucas GJ, Daroszewska A, Ralston SH.

J Bone Miner Res. 2006 Dec;21 Suppl 2:P31-7. Review.

18.

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, Cundy T.

J Bone Miner Res. 2003 Dec;18(12):2095-2104. doi: 10.1359/jbmr.2003.18.12.2095. Epub 2003 Dec 1.

19.

[Role of OPG in regulation of bone remodeling].

Nakamichi Y, Udagawa N.

Clin Calcium. 2006 Sep;16(9):1463-68. Review. Japanese.

PMID:
16951469
20.

Lack of mutations in the RANK gene in Spanish patients with Paget disease of bone.

Marco-Mingot M, San-Millán JL, Wuyts W, Bachiller-Corral J, Van Hul W, Morales-Piga AA.

Clin Genet. 2001 Jul;60(1):86-8. No abstract available.

PMID:
11531977

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