165 related articles for article (PubMed ID: 30690794)
1. Observations on the Natural History of Camurati-Engelmann Disease.
Hughes P; Hassan I; Que L; Mead P; Lee JH; Love DR; Prosser DO; Cundy T
J Bone Miner Res; 2019 May; 34(5):875-882. PubMed ID: 30690794
[TBL] [Abstract][Full Text] [Related]
2. Marked phenotypic variability in progressive diaphyseal dysplasia (Camurati-Engelmann disease): report of a four-generation pedigree, identification of a mutation in TGFB1, and review.
Wallace SE; Lachman RS; Mekikian PB; Bui KK; Wilcox WR
Am J Med Genet A; 2004 Sep; 129A(3):235-47. PubMed ID: 15326622
[TBL] [Abstract][Full Text] [Related]
3. Orthopedic Manifestations of Type I Camurati-Engelmann Disease.
Yuldashev AJ; Shin CH; Kim YS; Jang WY; Park MS; Chae JH; Yoo WJ; Choi IH; Kim OH; Cho TJ
Clin Orthop Surg; 2017 Mar; 9(1):109-115. PubMed ID: 28261436
[TBL] [Abstract][Full Text] [Related]
4. The first Korean case of Camurati-Engelmann disease (progressive diaphyseal dysplasia) confirmed by TGFB1 gene mutation analysis.
Park SJ; Yoon CS; Park HW; Choi JR; Chung JS; Lee KA
J Korean Med Sci; 2009 Aug; 24(4):737-40. PubMed ID: 19654961
[TBL] [Abstract][Full Text] [Related]
5. An ENU-induced p.C225S missense mutation in the mouse Tgfb1 gene does not cause Camurati-Engelmann disease-like skeletal phenotypes.
Ichimura S; Sasaki S; Murata T; Fukumura R; Gondo Y; Ikegawa S; Furuichi T
Exp Anim; 2017 May; 66(2):137-144. PubMed ID: 27928112
[TBL] [Abstract][Full Text] [Related]
6. Camurati-Engelmann disease type II: progressive diaphyseal dysplasia with striations of the bones.
Nishimura G; Nishimura H; Tanaka Y; Makita Y; Ikegawa S; Ghadami M; Kinoshita A; Niikawa N
Am J Med Genet; 2002 Jan; 107(1):5-11. PubMed ID: 11807860
[TBL] [Abstract][Full Text] [Related]
7. Clinical characteristics and identification of a novel TGFB1 variant in three unrelated Chinese families with Camurati-Engelmann disease.
Tao XH; Yang XG; Wang ZY; Xu Y; Lin XY; Xu T; Zhang ZL; Yue H
Mol Genet Genomic Med; 2022 May; 10(5):e1922. PubMed ID: 35315241
[TBL] [Abstract][Full Text] [Related]
8. A novel mutation of TGF beta1 in a Chinese family with Camurati-Engelmann disease.
Wu S; Liang S; Yan Y; Wang Y; Li F; Deng Y; Huang W; Yuan W; Luo N; Zhu C; Wang Y; Li Y; Liu M; Wu X
Bone; 2007 Jun; 40(6):1630-4. PubMed ID: 17433803
[TBL] [Abstract][Full Text] [Related]
9. Camurati-Engelmann disease: unique variant featuring a novel mutation in TGFβ1 encoding transforming growth factor beta 1 and a missense change in TNFSF11 encoding RANK ligand.
Whyte MP; Totty WG; Novack DV; Zhang X; Wenkert D; Mumm S
J Bone Miner Res; 2011 May; 26(5):920-33. PubMed ID: 21541994
[TBL] [Abstract][Full Text] [Related]
10. Camurati-Engelmann disease (progressive diaphyseal dysplasia) in a Moroccan family.
Simsek S; Janssens K; Kwee ML; Van Hul W; Veenstra J; Netelenbos JC
Osteoporos Int; 2005 Sep; 16(9):1167-70. PubMed ID: 15959620
[TBL] [Abstract][Full Text] [Related]
11. Camurati-Engelmann disease--a rare cause of bone pain.
Mundra V; Taxel P
Conn Med; 2012 Jan; 76(1):33-7. PubMed ID: 22372177
[TBL] [Abstract][Full Text] [Related]
12. Camurati-Engelmann Disease.
Van Hul W; Boudin E; Vanhoenacker FM; Mortier G
Calcif Tissue Int; 2019 May; 104(5):554-560. PubMed ID: 30721323
[TBL] [Abstract][Full Text] [Related]
13. Camurati-Engelmann disease with obesity in a newly identified family carrying a missense p.Arg156Cys mutation in the TGFB1 gene.
Collet C; Laplanche JL; de Vernejoul MC
Am J Med Genet A; 2013 Aug; 161A(8):2074-7. PubMed ID: 23824952
[TBL] [Abstract][Full Text] [Related]
14. Camurati-Engelmann disease: contribution of bone scintigraphy to genetic counseling.
Clybouw C; Desmyttere S; Bonduelle M; Piepsz A
Genet Couns; 1994; 5(2):195-8. PubMed ID: 7917133
[TBL] [Abstract][Full Text] [Related]
15. Clinical characteristics and treatment outcomes in Camurati-Engelmann disease: A case series.
Kim YM; Kang E; Choi JH; Kim GH; Yoo HW; Lee BH
Medicine (Baltimore); 2018 Apr; 97(14):e0309. PubMed ID: 29620655
[TBL] [Abstract][Full Text] [Related]
16. Transforming growth factor-β1 gene mutations and phenotypes in pediatric patients with Camurati‑Engelmann disease.
Wang C; Zhang BH; Liu YJ; Hu YQ; He JW; Zhang ZL
Mol Med Rep; 2013 May; 7(5):1695-9. PubMed ID: 23503840
[TBL] [Abstract][Full Text] [Related]
17. A family with Camurati-Engelman disease. The role of the missense p.R218C mutation in TGFB1 in bones and endocrine glands.
Toumba M; Neocleous V; Shammas C; Anastasiadou V; Allgrove J; Phylactou LA; Skordis N
J Pediatr Endocrinol Metab; 2013; 26(9-10):987-93. PubMed ID: 23729546
[TBL] [Abstract][Full Text] [Related]
18. Phenotypic variability at the TGF-beta1 locus in Camurati-Engelmann disease.
Campos-Xavier B; Saraiva JM; Savarirayan R; Verloes A; Feingold J; Faivre L; Munnich A; Le Merrer M; Cormier-Daire V
Hum Genet; 2001 Dec; 109(6):653-8. PubMed ID: 11810278
[TBL] [Abstract][Full Text] [Related]
19. A mutation affecting the latency-associated peptide of TGFbeta1 in Camurati-Engelmann disease enhances osteoclast formation in vitro.
McGowan NW; MacPherson H; Janssens K; Van Hul W; Frith JC; Fraser WD; Ralston SH; Helfrich MH
J Clin Endocrinol Metab; 2003 Jul; 88(7):3321-6. PubMed ID: 12843182
[TBL] [Abstract][Full Text] [Related]
20.
; ; . PubMed ID:
[No Abstract] [Full Text] [Related]
[Next] [New Search]
