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Items: 1 to 20 of 74

1.

Genetic association study of UCMA/GRP and OPTN genes (PDB6 locus) with Paget's disease of bone.

Michou L, Conceição N, Morissette J, Gagnon E, Miltenberger-Miltenyi G, Siris ES, Brown JP, Cancela ML.

Bone. 2012 Oct;51(4):720-8. doi: 10.1016/j.bone.2012.06.028.

2.

The majority of the genetic risk for Paget's disease of bone is explained by genetic variants close to the CSF1, OPTN, TM7SF4, and TNFRSF11A genes.

Chung PY, Beyens G, Boonen S, Papapoulos S, Geusens P, Karperien M, Vanhoenacker F, Verbruggen L, Fransen E, Van Offel J, Goemaere S, Zmierczak HG, Westhovens R, Devogelaer JP, Van Hul W.

Hum Genet. 2010 Dec;128(6):615-26. doi: 10.1007/s00439-010-0888-2.

PMID:
20839008
3.

Genome-wide association study identifies variants at CSF1, OPTN and TNFRSF11A as genetic risk factors for Paget's disease of bone.

Albagha OM, Visconti MR, Alonso N, Langston AL, Cundy T, Dargie R, Dunlop MG, Fraser WD, Hooper MJ, Isaia G, Nicholson GC, del Pino Montes J, Gonzalez-Sarmiento R, di Stefano M, Tenesa A, Walsh JP, Ralston SH.

Nat Genet. 2010 Jun;42(6):520-4. doi: 10.1038/ng.562.

4.

Identification of rare genetic variants in novel loci associated with Paget's disease of bone.

Beauregard M, Gagnon E, Guay-Bélanger S, Morissette J, Brown JP, Michou L.

Hum Genet. 2014 Jun;133(6):755-68. doi: 10.1007/s00439-013-1409-x.

PMID:
24370779
5.

Indications for a genetic association of a VCP polymorphism with the pathogenesis of sporadic Paget's disease of bone, but not for TNFSF11 (RANKL) and IL-6 polymorphisms.

Chung PY, Beyens G, de Freitas F, Boonen S, Geusens P, Vanhoenacker F, Verbruggen L, Van Offel J, Goemaere S, Zmierczak HG, Westhovens R, Devogelaer JP, Van Hul W.

Mol Genet Metab. 2011 Jul;103(3):287-92. doi: 10.1016/j.ymgme.2011.03.021.

PMID:
21501964
6.

Genetic association study of Dickkopf-1 and sclerostin genes with paget disease of bone.

Beauregard M, Gagnon E, Guay-Bélanger S, Siris ES, Morissette J, Brown JP, Michou L.

Calcif Tissue Int. 2013 Nov;93(5):405-12. doi: 10.1007/s00223-013-9762-2.

PMID:
23836157
7.

Ubiquitin-associated domain mutations of SQSTM1 in Paget's disease of bone: evidence for a founder effect in patients of British descent.

Lucas GJ, Hocking LJ, Daroszewska A, Cundy T, Nicholson GC, Walsh JP, Fraser WD, Meier C, Hooper MJ, Ralston SH.

J Bone Miner Res. 2005 Feb;20(2):227-31.

8.

Genetics of Paget's disease of bone.

Ralston SH, Albagha OM.

Curr Osteoporos Rep. 2014 Sep;12(3):263-71. doi: 10.1007/s11914-014-0219-y. Review.

PMID:
24988994
9.

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.

10.

Targeted sequencing of the Paget's disease associated 14q32 locus identifies several missense coding variants in RIN3 that predispose to Paget's disease of bone.

Vallet M, Soares DC, Wani S, Sophocleous A, Warner J, Salter DM, Ralston SH, Albagha OM.

Hum Mol Genet. 2015 Jun 1;24(11):3286-95. doi: 10.1093/hmg/ddv068.

11.

Evaluation of the role of the SQSTM1 gene in sporadic Belgian patients with Paget's disease.

Beyens G, Van Hul E, Van Driessche K, Fransen E, Devogelaer JP, Vanhoenacker F, Van Offel J, Verbruggen L, De Clerck L, Westhovens R, Van Hul W.

Calcif Tissue Int. 2004 Aug;75(2):144-52.

PMID:
15164150
12.

Genetic variation in the TNFRSF11A gene encoding RANK is associated with susceptibility to Paget's disease of bone.

Chung PY, Beyens G, Riches PL, Van Wesenbeeck L, de Freitas F, Jennes K, Daroszewska A, Fransen E, Boonen S, Geusens P, Vanhoenacker F, Verbruggen L, Van Offel J, Goemaere S, Zmierczak HG, Westhovens R, Karperien M, Papapoulos S, Ralston SH, Devogelaer JP, Van Hul W.

J Bone Miner Res. 2010 Dec;25(12):2592-605. doi: 10.1002/jbmr.162. Erratum in: J Bone Miner Res. 2011 Feb;26(2):439.

13.

Role of CYP1B1, MYOC, OPTN, and OPTC genes in adult-onset primary open-angle glaucoma: predominance of CYP1B1 mutations in Indian patients.

Kumar A, Basavaraj MG, Gupta SK, Qamar I, Ali AM, Bajaj V, Ramesh TK, Prakash DR, Shetty JS, Dorairaj SK.

Mol Vis. 2007 Apr 30;13:667-76.

14.

Identification of sex-specific associations between polymorphisms of the osteoprotegerin gene, TNFRSF11B, and Paget's disease of bone.

Beyens G, Daroszewska A, de Freitas F, Fransen E, Vanhoenacker F, Verbruggen L, Zmierczak HG, Westhovens R, Van Offel J, Ralston SH, Devogelaer JP, Van Hul W.

J Bone Miner Res. 2007 Jul;22(7):1062-71.

15.
16.

Evaluation of the role of Valosin-containing protein in the pathogenesis of familial and sporadic Paget's disease of bone.

Lucas GJ, Mehta SG, Hocking LJ, Stewart TL, Cundy T, Nicholson GC, Walsh JP, Fraser WD, Watts GD, Ralston SH, Kimonis VE.

Bone. 2006 Feb;38(2):280-5.

PMID:
16199218
17.

Development of a molecular test of Paget's disease of bone.

Guay-Bélanger S, Simonyan D, Bureau A, Gagnon E, Albert C, Morissette J, Siris ES, Orcel P, Brown JP, Michou L.

Bone. 2016 Mar;84:213-21. doi: 10.1016/j.bone.2016.01.007.

18.

Genome-wide association identifies three new susceptibility loci for Paget's disease of bone.

Albagha OM, Wani SE, Visconti MR, Alonso N, Goodman K, Brandi ML, Cundy T, Chung PY, Dargie R, Devogelaer JP, Falchetti A, Fraser WD, Gennari L, Gianfrancesco F, Hooper MJ, Van Hul W, Isaia G, Nicholson GC, Nuti R, Papapoulos S, Montes Jdel P, Ratajczak T, Rea SL, Rendina D, Gonzalez-Sarmiento R, Di Stefano M, Ward LC, Walsh JP, Ralston SH; Genetic Determinants of Paget's Disease (GDPD) Consortium..

Nat Genet. 2011 May 29;43(7):685-9. doi: 10.1038/ng.845.

PMID:
21623375
19.

SNPs and interaction analyses of noelin 2, myocilin, and optineurin genes in Japanese patients with open-angle glaucoma.

Funayama T, Mashima Y, Ohtake Y, Ishikawa K, Fuse N, Yasuda N, Fukuchi T, Murakami A, Hotta Y, Shimada N; Glaucoma Gene Research Group..

Invest Ophthalmol Vis Sci. 2006 Dec;47(12):5368-75.

PMID:
17122126
20.

A nonsynonymous TNFRSF11A variation increases NFκB activity and the severity of Paget's disease.

Gianfrancesco F, Rendina D, Di Stefano M, Mingione A, Esposito T, Merlotti D, Gallone S, Magliocca S, Goode A, Formicola D, Morello G, Layfield R, Frattini A, De Filippo G, Nuti R, Searle M, Strazzullo P, Isaia G, Mossetti G, Gennari L.

J Bone Miner Res. 2012 Feb;27(2):443-52. doi: 10.1002/jbmr.542.

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