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326 related items for PubMed ID: 15894597

  • 1. Camurati-Engelmann disease: review of the clinical, radiological, and molecular data of 24 families and implications for diagnosis and treatment.
    Janssens K, Vanhoenacker F, Bonduelle M, Verbruggen L, Van Maldergem L, Ralston S, Guañabens N, Migone N, Wientroub S, Divizia MT, Bergmann C, Bennett C, Simsek S, Melançon S, Cundy T, Van Hul W.
    J Med Genet; 2006 Jan; 43(1):1-11. PubMed ID: 15894597
    [Abstract] [Full Text] [Related]

  • 2. 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
    [Abstract] [Full Text] [Related]

  • 3. 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
    [Abstract] [Full Text] [Related]

  • 4. Camurati-Engelmann disease: contribution of bone scintigraphy to genetic counseling.
    Clybouw C, Desmyttere S, Bonduelle M, Piepsz A.
    Genet Couns; 1994 May; 5(2):195-8. PubMed ID: 7917133
    [Abstract] [Full Text] [Related]

  • 5. 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
    [Abstract] [Full Text] [Related]

  • 6. 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
    [Abstract] [Full Text] [Related]

  • 7. Camurati-Engelmann Disease.
    Van Hul W, Boudin E, Vanhoenacker FM, Mortier G.
    Calcif Tissue Int; 2019 May; 104(5):554-560. PubMed ID: 30721323
    [Abstract] [Full Text] [Related]

  • 8. Bone biopsy and densitometry findings in a child with Camurati-Engelmann disease.
    Bondestam J, Mäyränpää MK, Ikegawa S, Marttinen E, Kröger H, Mäkitie O.
    Clin Rheumatol; 2007 Oct; 26(10):1773-7. PubMed ID: 17206397
    [Abstract] [Full Text] [Related]

  • 9. Camurati-Engelmann disease in conjunction with hypogonadism.
    Gupta S, Cheikh IE.
    Endocr Pract; 2005 Oct; 11(6):399-407. PubMed ID: 16638728
    [Abstract] [Full Text] [Related]

  • 10.
    Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, Wallace SE, Wilcox WR.
    ; 1993 Oct. PubMed ID: 20301335
    [Abstract] [Full Text] [Related]

  • 11. Clinical diagnosis and mutation analysis of a Chinese family with Camurati-Engelmann disease.
    Chen Y, Xie W, Hu F, Chen J, Zheng H, Zhou H, Ni B, Li W, Zhou J.
    Mol Med Rep; 2017 Jan; 15(1):235-239. PubMed ID: 27959412
    [Abstract] [Full Text] [Related]

  • 12. Mild Camurati‑Engelamann disease presenting with exophthalmos as the first and only manifestation: A case report.
    Jiajue R, Wu B, Jiang Y, Wang O, Li M, Xing X, Xia W.
    Mol Med Rep; 2016 Sep; 14(3):2710-6. PubMed ID: 27484238
    [Abstract] [Full Text] [Related]

  • 13. Camurati-Engelmann disease (progressive diaphyseal dysplasia): reports of an Indian kindred.
    Bhadada SK, Sridhar S, Steenackers E, Dhiman V, Mortier G, Bhansali A, Van Hul W.
    Calcif Tissue Int; 2014 Feb; 94(2):240-7. PubMed ID: 24154985
    [Abstract] [Full Text] [Related]

  • 14. 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
    [Abstract] [Full Text] [Related]

  • 15. Camurati-Engelmann disease--a rare cause of bone pain.
    Mundra V, Taxel P.
    Conn Med; 2012 Jan; 76(1):33-7. PubMed ID: 22372177
    [Abstract] [Full Text] [Related]

  • 16. Unveiling the uncommon: diagnostic journey of camurati-engelmann disease in a pediatric patient.
    Alkaya A, Yıldız AE, Bağlan E, Özdel S.
    Pediatr Rheumatol Online J; 2024 Oct 08; 22(1):89. PubMed ID: 39379987
    [Abstract] [Full Text] [Related]

  • 17. 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 03; 66(2):137-144. PubMed ID: 27928112
    [Abstract] [Full Text] [Related]

  • 18. 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 03; 26(5):920-33. PubMed ID: 21541994
    [Abstract] [Full Text] [Related]

  • 19. 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 03; 40(6):1630-4. PubMed ID: 17433803
    [Abstract] [Full Text] [Related]

  • 20. Proband and the Brother.
    B S, Kotha JP.
    J Assoc Physicians India; 2023 Jan 03; 71(1):1. PubMed ID: 37116016
    [Abstract] [Full Text] [Related]

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