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Items: 1 to 20 of 34

1.

Elimination of pain and improvement of exercise capacity in Camurati-Engelmann disease with losartan.

Ayyavoo A, Derraik JG, Cutfield WS, Hofman PL.

J Clin Endocrinol Metab. 2014 Nov;99(11):3978-82. doi: 10.1210/jc.2014-2025. Epub 2014 Aug 20.

PMID:
25140400
2.

Positive effects of an angiotensin II type 1 receptor antagonist in Camurati-Engelmann disease: a single case observation.

Simsek-Kiper PO, Dikoglu E, Campos-Xavier B, Utine GE, Bonafe L, Unger S, Boduroglu K, Superti-Furga A.

Am J Med Genet A. 2014 Oct;164A(10):2667-71. doi: 10.1002/ajmg.a.36692. Epub 2014 Aug 5.

PMID:
25099136
3.

Intranasal calcitonin reducing bone pain in a patient with Camurati-Engelmann disease.

Trombetti A, Cortes F, Kaelin A, Morris M, Rizzoli R.

Scand J Rheumatol. 2012 Feb;41(1):75-7. doi: 10.3109/03009742.2011.608195. Epub 2011 Nov 1. No abstract available.

PMID:
22044122
4.

Ribbing disease: a case report and literature review.

Oztürkmen Y, Karamehmetoğlu M.

Acta Orthop Traumatol Turc. 2011;45(1):58-65. doi: 10.3944/AOTT.2010.2421.

5.

Skull base manifestations of Camurati-Engelmann disease.

Carlson ML, Beatty CW, Neff BA, Link MJ, Driscoll CL.

Arch Otolaryngol Head Neck Surg. 2010 Jun;136(6):566-75. doi: 10.1001/archoto.2010.68. Review.

PMID:
20566907
6.

Two distinct regions of latency-associated peptide coordinate stability of the latent transforming growth factor-beta1 complex.

Walton KL, Makanji Y, Chen J, Wilce MC, Chan KL, Robertson DM, Harrison CA.

J Biol Chem. 2010 May 28;285(22):17029-37. doi: 10.1074/jbc.M110.110288. Epub 2010 Mar 22.

7.

Progressive diaphyseal dysplasia.

NEUHAUSER EB, SHWACHMAN H, et al.

Radiology. 1948 Jul;51(1):11-22. No abstract available.

PMID:
18869144
8.

Camurati-Engelmann disease in conjunction with hypogonadism.

Gupta S, Cheikh IE.

Endocr Pract. 2005 Nov-Dec;11(6):399-407.

PMID:
16638728
9.

Allelic diversity in the TGFB1 regulatory region: characterization of novel functional single nucleotide polymorphisms.

Shah R, Rahaman B, Hurley CK, Posch PE.

Hum Genet. 2006 Mar;119(1-2):61-74. Epub 2005 Dec 14.

PMID:
16369764
10.

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. Epub 2005 May 13. Review.

11.

Camurati-Engelmann disease: failure of response to bisphosphonates: report of two cases.

Castro GR, Appenzeller S, Marques-Neto JF, Bértolo MB, Samara AM, Coimbra I.

Clin Rheumatol. 2005 Aug;24(4):398-401. Epub 2005 Jan 20.

PMID:
15660289
12.
13.

TGFB1 mutations in four new families with Camurati-Engelmann disease: confirmation of independently arising LAP-domain-specific mutations.

Kinoshita A, Fukumaki Y, Shirahama S, Miyahara A, Nishimura G, Haga N, Namba A, Ueda H, Hayashi H, Ikegawa S, Seidel J, Niikawa N, Yoshiura K.

Am J Med Genet A. 2004 May 15;127A(1):104-7. No abstract available.

PMID:
15103729
14.

Englemann's disease (progressive diaphyseal hyperostosis); report of a case.

GULLEDGE WH, WHITE JW.

J Bone Joint Surg Am. 1951 Jul;33-A(3):793-7. No abstract available.

PMID:
14850520
15.

No association between the TGF-beta 1 Leu10Pro polymorphism and osteoporosis among white women in the United States.

Ziv E, Kahn A, Cauley J, Morin P, Saiz R, Browner W.

Am J Med. 2003 Feb 15;114(3):227-31. No abstract available.

PMID:
12637138
16.

Transforming growth factor-beta 1 mutations in Camurati-Engelmann disease lead to increased signaling by altering either activation or secretion of the mutant protein.

Janssens K, ten Dijke P, Ralston SH, Bergmann C, Van Hul W.

J Biol Chem. 2003 Feb 28;278(9):7718-24. Epub 2002 Dec 18.

17.

A catalog of 106 single-nucleotide polymorphisms (SNPs) and 11 other types of variations in genes for transforming growth factor-beta1 (TGF-beta1) and its signaling pathway.

Watanabe Y, Kinoshita A, Yamada T, Ohta T, Kishino T, Matsumoto N, Ishikawa M, Niikawa N, Yoshiura K.

J Hum Genet. 2002;47(9):478-83.

PMID:
12202987
18.

Polymorphism R25P in the gene encoding transforming growth factor-beta (TGF-beta1) is a newly identified risk factor for proliferative diabetic retinopathy.

Beránek M, Kanková K, Benes P, Izakovicová-Hollá L, Znojil V, Hájek D, Vlková E, Vácha J.

Am J Med Genet. 2002 May 15;109(4):278-83.

PMID:
11992481
19.

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. Epub 2001 Nov 9.

PMID:
11810278

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