211 related articles for article (PubMed ID: 15523647)
1. 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. PubMed ID: 15523647
[TBL] [Abstract][Full Text] [Related]
2. 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; 17(18):2766-75. PubMed ID: 18559376
[TBL] [Abstract][Full Text] [Related]
3. 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. PubMed ID: 15685701
[TBL] [Abstract][Full Text] [Related]
4. 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. PubMed ID: 11850620
[TBL] [Abstract][Full Text] [Related]
5. 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. PubMed ID: 16007578
[TBL] [Abstract][Full Text] [Related]
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. PubMed ID: 21584901
[TBL] [Abstract][Full Text] [Related]
7. 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; 14(1):1-5. PubMed ID: 15525660
[TBL] [Abstract][Full Text] [Related]
8. Do intracranial neoplasms differ in Ollier disease and maffucci syndrome? An in-depth analysis of the literature.
Ranger A; Szymczak A
Neurosurgery; 2009 Dec; 65(6):1106-13; discussion 1113-5. PubMed ID: 19934970
[TBL] [Abstract][Full Text] [Related]
9. Array-comparative genomic hybridization of central chondrosarcoma: identification of ribosomal protein S6 and cyclin-dependent kinase 4 as candidate target genes for genomic aberrations.
Rozeman LB; Szuhai K; Schrage YM; Rosenberg C; Tanke HJ; Taminiau AH; Cleton-Jansen AM; Bovée JV; Hogendoorn PC
Cancer; 2006 Jul; 107(2):380-8. PubMed ID: 16779802
[TBL] [Abstract][Full Text] [Related]
10. Ollier disease.
Silve C; Jüppner H
Orphanet J Rare Dis; 2006 Sep; 1():37. PubMed ID: 16995932
[TBL] [Abstract][Full Text] [Related]
11. 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. PubMed ID: 21082660
[TBL] [Abstract][Full Text] [Related]
12. Methylation status of EXT1 and EXT2 promoters and two mutations of EXT2 in chondrosarcoma.
Tsuchiya T; Osanai T; Ogose A; Tamura G; Chano T; Kaneko Y; Ishikawa A; Orui H; Wada T; Ikeda T; Namba M; Takigawa M; Kawashima H; Hotta T; Tsuchiya A; Ogino T; Motoyama T
Cancer Genet Cytogenet; 2005 Apr; 158(2):148-55. PubMed ID: 15796962
[TBL] [Abstract][Full Text] [Related]
13. Association of parathyroid hormone-like hormone (PTHLH) and its receptor (PTHR1) with the number of functional and inverted teats in pigs.
Tetzlaff S; Chomdej S; Jonas E; Ponsuksili S; Murani E; Phatsara C; Schellander K; Wimmers K
J Anim Breed Genet; 2009 Jun; 126(3):237-41. PubMed ID: 19646152
[TBL] [Abstract][Full Text] [Related]
14. Enchondromatosis: insights on the different subtypes.
Pansuriya TC; Kroon HM; Bovée JV
Int J Clin Exp Pathol; 2010 Jun; 3(6):557-69. PubMed ID: 20661403
[TBL] [Abstract][Full Text] [Related]
15. Alport syndrome. Molecular genetic aspects.
Hertz JM
Dan Med Bull; 2009 Aug; 56(3):105-52. PubMed ID: 19728970
[TBL] [Abstract][Full Text] [Related]
16. Update on the imaging features of the enchondromatosis syndromes.
Sharif B; Lindsay D; Saifuddin A
Skeletal Radiol; 2022 Apr; 51(4):747-762. PubMed ID: 34302201
[TBL] [Abstract][Full Text] [Related]
17. Somatic IDH1 mutation in a pituitary adenoma of a patient with Maffucci syndrome.
Hao S; Hong CS; Feng J; Yang C; Chittiboina P; Zhang J; Zhuang Z
J Neurosurg; 2016 Jun; 124(6):1562-7. PubMed ID: 26473790
[TBL] [Abstract][Full Text] [Related]
18. IDH1 immunohistochemistry reactivity and mosaic IDH1 or IDH2 somatic mutations in pediatric sporadic enchondroma and enchondromatosis.
Saiji E; Pause FG; Lascombes P; Cerato Biderbost C; Marq NL; Berczy M; Merlini L; Rougemont AL
Virchows Arch; 2019 Nov; 475(5):625-636. PubMed ID: 31240473
[TBL] [Abstract][Full Text] [Related]
19. Malignancy in Maffucci's syndrome.
Albregts AE; Rapini RP
Dermatol Clin; 1995 Jan; 13(1):73-8. PubMed ID: 7712654
[TBL] [Abstract][Full Text] [Related]
20. Climbing exercise enhances osteoblast differentiation and inhibits adipogenic differentiation with high expression of PTH/PTHrP receptor in bone marrow cells.
Menuki K; Mori T; Sakai A; Sakuma M; Okimoto N; Shimizu Y; Kunugita N; Nakamura T
Bone; 2008 Sep; 43(3):613-20. PubMed ID: 18567552
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]