Janssens K - Search Results

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. Janssens K, et al. J Med Genet. 2006 Jan;43(1):1-11. doi: 10.1136/jmg.2005.033522. Epub 2005 May 13. J Med Genet. 2006. PMID: 15894597 Free PMC article. Review.

2

Localisation of the gene causing diaphyseal dysplasia Camurati-Engelmann to chromosome 19q13.

Janssens K, Gershoni-Baruch R, Van Hul E, Brik R, Guañabens N, Migone N, Verbruggen LA, Ralston SH, Bonduelle M, Van Maldergem L, Vanhoenacker F, Van Hul W. Janssens K, et al. J Med Genet. 2000 Apr;37(4):245-9. doi: 10.1136/jmg.37.4.245. J Med Genet. 2000. PMID: 10745041 Free PMC article.

3

Mutations in the gene encoding the latency-associated peptide of TGF-beta 1 cause Camurati-Engelmann disease.

Janssens K, Gershoni-Baruch R, Guañabens N, Migone N, Ralston S, Bonduelle M, Lissens W, Van Maldergem L, Vanhoenacker F, Verbruggen L, Van Hul W. Janssens K, et al. Nat Genet. 2000 Nov;26(3):273-5. doi: 10.1038/81563. Nat Genet. 2000. PMID: 11062463

4

Molecular and radiological diagnosis of sclerosing bone dysplasias.

Van Hul W, Vanhoenacker F, Balemans W, Janssens K, De Schepper AM. Van Hul W, et al. Among authors: janssens k. Eur J Radiol. 2001 Dec;40(3):198-207. doi: 10.1016/s0720-048x(01)00400-4. Eur J Radiol. 2001. PMID: 11731208 Review.

5

Molecular genetics of too much bone.

Janssens K, Van Hul W. Janssens K, et al. Hum Mol Genet. 2002 Oct 1;11(20):2385-93. doi: 10.1093/hmg/11.20.2385. Hum Mol Genet. 2002. PMID: 12351574 Review.

6

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. Janssens K, et al. J Biol Chem. 2003 Feb 28;278(9):7718-24. doi: 10.1074/jbc.M208857200. Epub 2002 Dec 18. J Biol Chem. 2003. PMID: 12493741 Free article.

7

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. McGowan NW, et al. Among authors: janssens k. J Clin Endocrinol Metab. 2003 Jul;88(7):3321-6. doi: 10.1210/jc.2002-020564. J Clin Endocrinol Metab. 2003. PMID: 12843182

8

Camurati-Engelmann disease. Review of radioclinical features.

Vanhoenacker FM, Janssens K, Van Hul W, Gershoni-Baruch R, Brik R, De Schepper AM. Vanhoenacker FM, et al. Among authors: janssens k. Acta Radiol. 2003 Jul;44(4):430-4. doi: 10.1080/j.1600-0455.2003.00088.x. Acta Radiol. 2003. PMID: 12846694

9

Macrocephaly and sclerosis of the tubular bones in an isolated patient: a mild case of craniodiaphyseal dysplasia?

Janssens K, Thompson E, Vanhoenacker F, Savarirayan R, Morris L, Dobbie A, Van Hul W. Janssens K, et al. Clin Dysmorphol. 2003 Oct;12(4):245-50. doi: 10.1097/00019605-200310000-00007. Clin Dysmorphol. 2003. PMID: 14564212

10

Loss-of-function mutations in LEMD3 result in osteopoikilosis, Buschke-Ollendorff syndrome and melorheostosis.

Hellemans J, Preobrazhenska O, Willaert A, Debeer P, Verdonk PC, Costa T, Janssens K, Menten B, Van Roy N, Vermeulen SJ, Savarirayan R, Van Hul W, Vanhoenacker F, Huylebroeck D, De Paepe A, Naeyaert JM, Vandesompele J, Speleman F, Verschueren K, Coucke PJ, Mortier GR. Hellemans J, et al. Among authors: janssens k. Nat Genet. 2004 Nov;36(11):1213-8. doi: 10.1038/ng1453. Epub 2004 Oct 17. Nat Genet. 2004. PMID: 15489854

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