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Results: 1 to 20 of 100

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. Epub 2012 Jul 14.

PMID:
22796589
[PubMed - indexed for MEDLINE]
Free PMC Article
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. Epub 2010 Sep 14.

PMID:
20839008
[PubMed - indexed for MEDLINE]
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. Epub 2010 May 2.

PMID:
20436471
[PubMed - indexed for MEDLINE]
Free PMC Article
4.

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. Epub 2011 Mar 31.

PMID:
21501964
[PubMed - indexed for MEDLINE]
5.

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. Epub 2013 Dec 27.

PMID:
24370779
[PubMed - indexed for MEDLINE]
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. Epub 2013 Jul 9.

PMID:
23836157
[PubMed - indexed for MEDLINE]
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. Epub 2004 Nov 16.

PMID:
15647816
[PubMed - indexed for MEDLINE]
8.

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.

PMID:
15312251
[PubMed - indexed for MEDLINE]
9.

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. Epub 2004 May 20.

PMID:
15164150
[PubMed - indexed for MEDLINE]
10.

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. Epub 2010 Jun 18. Erratum in: J Bone Miner Res. 2011 Feb;26(2):439.

PMID:
20564239
[PubMed - indexed for MEDLINE]
11.

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.

PMID:
17388729
[PubMed - indexed for MEDLINE]
12.

Multiple gene polymorphisms analysis revealed a different profile of genetic polymorphisms of primary open-angle glaucoma in northern Chinese.

Jia LY, Tam PO, Chiang SW, Ding N, Chen LJ, Yam GH, Pang CP, Wang NL.

Mol Vis. 2009;15:89-98. Epub 2009 Jan 16.

PMID:
19145250
[PubMed - indexed for MEDLINE]
Free PMC Article
13.

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. Epub 2005 Sep 30.

PMID:
16199218
[PubMed - indexed for MEDLINE]
14.

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
[PubMed - indexed for MEDLINE]
Free Article
15.

Paget's disease of bone: evidence for complex pathogenetic interactions.

Chung PY, Van Hul W.

Semin Arthritis Rheum. 2012 Apr;41(5):619-41. doi: 10.1016/j.semarthrit.2011.07.005. Epub 2011 Sep 29. Review.

PMID:
21959292
[PubMed - indexed for MEDLINE]
16.

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
[PubMed - indexed for MEDLINE]
17.

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.

PMID:
21987421
[PubMed - indexed for MEDLINE]
18.

Variation in optineurin (OPTN) allele frequencies between and within populations.

Ayala-Lugo RM, Pawar H, Reed DM, Lichter PR, Moroi SE, Page M, Eadie J, Azocar V, Maul E, Ntim-Amponsah C, Bromley W, Obeng-Nyarkoh E, Johnson AT, Kijek TG, Downs CA, Johnson JM, Perez-Grossmann RA, Guevara-Fujita ML, Fujita R, Wallace MR, Richards JE.

Mol Vis. 2007 Feb 2;13:151-63.

PMID:
17293779
[PubMed - indexed for MEDLINE]
Free PMC Article
19.

Role of MYOC and OPTN sequence variations in Spanish patients with primary open-angle glaucoma.

Lopez-Martinez F, Lopez-Garrido MP, Sanchez-Sanchez F, Campos-Mollo E, Coca-Prados M, Escribano J.

Mol Vis. 2007 Jun 14;13:862-72.

PMID:
17615537
[PubMed - indexed for MEDLINE]
Free PMC Article
20.

Founder effect in different European countries for the recurrent P392L SQSTM1 mutation in Paget's Disease of Bone.

Chung PY, Beyens G, Guañabens N, Boonen S, Papapoulos S, Karperien M, Eekhoff M, Van Wesenbeeck L, Jennes K, Geusens P, Offeciers E, Van Offel J, Westhovens R, Zmierczak H, Devogelaer JP, Van Hul W.

Calcif Tissue Int. 2008 Jul;83(1):34-42. doi: 10.1007/s00223-008-9137-2. Epub 2008 Jun 10.

PMID:
18543015
[PubMed - indexed for MEDLINE]

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