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Items: 1 to 20 of 122

1.

PTHR1 mutations associated with Ollier disease result in receptor loss of function.

Couvineau A, Wouters V, Bertrand G, Rouyer C, Gérard B, Boon LM, Grandchamp B, Vikkula M, Silve C.

Hum Mol Genet. 2008 Sep 15;17(18):2766-75. doi: 10.1093/hmg/ddn176. Epub 2008 Jun 17.

2.

Enchondromatosis (Ollier disease, Maffucci syndrome) is not caused by the PTHR1 mutation p.R150C.

Rozeman LB, Sangiorgi L, Briaire-de Bruijn IH, Mainil-Varlet P, Bertoni F, Cleton-Jansen AM, Hogendoorn PC, Bovée JV.

Hum Mutat. 2004 Dec;24(6):466-73.

PMID:
15523647
3.

A mutant PTH/PTHrP type I receptor in enchondromatosis.

Hopyan S, Gokgoz N, Poon R, Gensure RC, Yu C, Cole WG, Bell RS, Jüppner H, Andrulis IL, Wunder JS, Alman BA.

Nat Genet. 2002 Mar;30(3):306-10. Epub 2002 Feb 19.

PMID:
11850620
4.

Symmetrical enchondromatosis is associated with duplication of 12p11.23 to 12p11.22 including PTHLH.

Collinson M, Leonard SJ, Charlton J, Crolla JA, Silve C, Hall CM, Oglivie C, James MA, Smithson SF.

Am J Med Genet A. 2010 Dec;152A(12):3124-8. doi: 10.1002/ajmg.a.33567.

PMID:
21082660
5.

Somatic mosaic IDH1 and IDH2 mutations are associated with enchondroma and spindle cell hemangioma in Ollier disease and Maffucci syndrome.

Pansuriya TC, van Eijk R, d'Adamo P, van Ruler MA, Kuijjer ML, Oosting J, Cleton-Jansen AM, van Oosterwijk JG, Verbeke SL, Meijer D, van Wezel T, Nord KH, Sangiorgi L, Toker B, Liegl-Atzwanger B, San-Julian M, Sciot R, Limaye N, Kindblom LG, Daugaard S, Godfraind C, Boon LM, Vikkula M, Kurek KC, Szuhai K, French PJ, Bovée JV.

Nat Genet. 2011 Nov 6;43(12):1256-61. doi: 10.1038/ng.1004.

6.

Maffucci syndrome: a genome-wide analysis using high resolution single nucleotide polymorphism and expression arrays on four cases.

Pansuriya TC, Oosting J, Verdegaal SH, Flanagan AM, Sciot R, Kindblom LG, Hogendoorn PC, Szuhai K, Bovée JV.

Genes Chromosomes Cancer. 2011 Sep;50(9):673-9. doi: 10.1002/gcc.20889. Epub 2011 May 16.

PMID:
21584901
7.

Absence of IHH and retention of PTHrP signalling in enchondromas and central chondrosarcomas.

Rozeman LB, Hameetman L, Cleton-Jansen AM, Taminiau AH, Hogendoorn PC, Bovée JV.

J Pathol. 2005 Mar;205(4):476-82.

PMID:
15685701
8.

Actions of the small molecule ligands SW106 and AH-3960 on the type-1 parathyroid hormone receptor.

Carter PH, Dean T, Bhayana B, Khatri A, Rajur R, Gardella TJ.

Mol Endocrinol. 2015 Feb;29(2):307-21. doi: 10.1210/me.2014-1129. Epub 2015 Jan 13.

9.

Conformational changes in the parathyroid hormone receptor associated with activation by agonist.

Thomas BE, Woznica I, Mierke DF, Wittelsberger A, Rosenblatt M.

Mol Endocrinol. 2008 May;22(5):1154-62. doi: 10.1210/me.2007-0520. Epub 2008 Feb 7.

10.

Novel mutations in the parathyroid hormone (PTH)/PTH-related peptide receptor type 1 causing Blomstrand osteochondrodysplasia types I and II.

Hoogendam J, Farih-Sips H, Wÿnaendts LC, Löwik CW, Wit JM, Karperien M.

J Clin Endocrinol Metab. 2007 Mar;92(3):1088-95. Epub 2006 Dec 12.

PMID:
17164305
11.

Recessive mutations in PTHR1 cause contrasting skeletal dysplasias in Eiken and Blomstrand syndromes.

Duchatelet S, Ostergaard E, Cortes D, Lemainque A, Julier C.

Hum Mol Genet. 2005 Jan 1;14(1):1-5. Epub 2004 Nov 3.

PMID:
15525660
12.

Ollier disease.

Silve C, Jüppner H.

Orphanet J Rare Dis. 2006 Sep 22;1:37. Review.

13.

Loss-of-function mutations in PTPN11 cause metachondromatosis, but not Ollier disease or Maffucci syndrome.

Bowen ME, Boyden ED, Holm IA, Campos-Xavier B, Bonafé L, Superti-Furga A, Ikegawa S, Cormier-Daire V, Bovée JV, Pansuriya TC, de Sousa SB, Savarirayan R, Andreucci E, Vikkula M, Garavelli L, Pottinger C, Ogino T, Sakai A, Regazzoni BM, Wuyts W, Sangiorgi L, Pedrini E, Zhu M, Kozakewich HP, Kasser JR, Seidman JG, Kurek KC, Warman ML.

PLoS Genet. 2011 Apr;7(4):e1002050. doi: 10.1371/journal.pgen.1002050. Epub 2011 Apr 14.

14.

Cysteine at position 217 in the intracellular loop 1 plays a critical role in human PTH receptor type 1 membrane translocation and function.

Thomas BE, Wittelsberger A, Woznica I, Hsieh MY, Monaghan P, Lee BK, Rosenblatt M.

J Bone Miner Res. 2007 Apr;22(4):609-16.

15.

Enchondromatosis: insights on the different subtypes.

Pansuriya TC, Kroon HM, Bovée JV.

Int J Clin Exp Pathol. 2010 Jun 26;3(6):557-69. Review.

16.

cDNA expression profiling of chondrosarcomas: Ollier disease resembles solitary tumours and alteration in genes coding for components of energy metabolism occurs with increasing grade.

Rozeman LB, Hameetman L, van Wezel T, Taminiau AH, Cleton-Jansen AM, Hogendoorn PC, Bovée JV.

J Pathol. 2005 Sep;207(1):61-71.

PMID:
16007578
17.

Genetic variation in the PTH pathway and bone phenotypes in elderly women: evaluation of PTH, PTHLH, PTHR1 and PTHR2 genes.

Tenne M, McGuigan F, Jansson L, Gerdhem P, Obrant KJ, Luthman H, Akesson K.

Bone. 2008 Apr;42(4):719-27. doi: 10.1016/j.bone.2007.12.005. Epub 2007 Dec 23.

PMID:
18280230
18.

A novel non-synonymous mutation in the melanocortin-4 receptor gene (MC4R) in a 2-year-old Austrian girl with extreme obesity.

Rettenbacher E, Tarnow P, Brumm H, Prayer D, Wermter AK, Hebebrand J, Biebermann H, Hinney A, Widhalm K.

Exp Clin Endocrinol Diabetes. 2007 Jan;115(1):7-12.

PMID:
17286227
19.

Ollier Disease: Pathogenesis, Diagnosis, and Management.

Kumar A, Jain VK, Bharadwaj M, Arya RK.

Orthopedics. 2015 Jun;38(6):e497-506. doi: 10.3928/01477447-20150603-58. Review.

PMID:
26091223
20.

Ollier disease and Maffucci syndrome are caused by somatic mosaic mutations of IDH1 and IDH2.

Amary MF, Damato S, Halai D, Eskandarpour M, Berisha F, Bonar F, McCarthy S, Fantin VR, Straley KS, Lobo S, Aston W, Green CL, Gale RE, Tirabosco R, Futreal A, Campbell P, Presneau N, Flanagan AM.

Nat Genet. 2011 Nov 6;43(12):1262-5. doi: 10.1038/ng.994.

PMID:
22057236

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