PubMed (OMIM) for id: 98484

Year	Number of Results
1962	1
1977	1
1984	1
1988	1
1998	1
1999	1
2001	1
2002	2
2003	1
2005	1
2024	0

1

Genomic deletion of a long-range bone enhancer misregulates sclerostin in Van Buchem disease.

Loots GG, Kneissel M, Keller H, Baptist M, Chang J, Collette NM, Ovcharenko D, Plajzer-Frick I, Rubin EM. Loots GG, et al. Genome Res. 2005 Jul;15(7):928-35. doi: 10.1101/gr.3437105. Epub 2005 Jun 17. Genome Res. 2005. PMID: 15965026 Free PMC article.

2

Patients with Van Buchem disease, an osteosclerotic genetic disease, have elevated bone formation markers, higher bone density, and greater derived polar moment of inertia than normal.

Wergedal JE, Veskovic K, Hellan M, Nyght C, Balemans W, Libanati C, Vanhoenacker FM, Tan J, Baylink DJ, Van Hul W. Wergedal JE, et al. J Clin Endocrinol Metab. 2003 Dec;88(12):5778-83. doi: 10.1210/jc.2003-030201. J Clin Endocrinol Metab. 2003. PMID: 14671168

3

Hyperostosis corticalis generalisata. Report of seven cases.

VAN BUCHEM FS, HADDERS HN, HANSEN JF, WOLDRING MG. VAN BUCHEM FS, et al. Am J Med. 1962 Sep;33:387-97. doi: 10.1016/0002-9343(62)90235-8. Am J Med. 1962. PMID: 13924477 No abstract available.

4

A 52-kb deletion in the SOST-MEOX1 intergenic region on 17q12-q21 is associated with van Buchem disease in the Dutch population.

Staehling-Hampton K, Proll S, Paeper BW, Zhao L, Charmley P, Brown A, Gardner JC, Galas D, Schatzman RC, Beighton P, Papapoulos S, Hamersma H, Brunkow ME. Staehling-Hampton K, et al. Am J Med Genet. 2002 Jun 15;110(2):144-52. doi: 10.1002/ajmg.10401. Am J Med Genet. 2002. PMID: 12116252

5

Identification of a 52 kb deletion downstream of the SOST gene in patients with van Buchem disease.

Balemans W, Patel N, Ebeling M, Van Hul E, Wuyts W, Lacza C, Dioszegi M, Dikkers FG, Hildering P, Willems PJ, Verheij JB, Lindpaintner K, Vickery B, Foernzler D, Van Hul W. Balemans W, et al. J Med Genet. 2002 Feb;39(2):91-7. doi: 10.1136/jmg.39.2.91. J Med Genet. 2002. PMID: 11836356 Free PMC article.

6

Bone dysplasia sclerosteosis results from loss of the SOST gene product, a novel cystine knot-containing protein.

Brunkow ME, Gardner JC, Van Ness J, Paeper BW, Kovacevich BR, Proll S, Skonier JE, Zhao L, Sabo PJ, Fu Y, Alisch RS, Gillett L, Colbert T, Tacconi P, Galas D, Hamersma H, Beighton P, Mulligan J. Brunkow ME, et al. Am J Hum Genet. 2001 Mar;68(3):577-89. doi: 10.1086/318811. Epub 2001 Feb 9. Am J Hum Genet. 2001. PMID: 11179006 Free PMC article.

7

Localization of the gene for sclerosteosis to the van Buchem disease-gene region on chromosome 17q12-q21.

Balemans W, Van Den Ende J, Freire Paes-Alves A, Dikkers FG, Willems PJ, Vanhoenacker F, de Almeida-Melo N, Alves CF, Stratakis CA, Hill SC, Van Hul W. Balemans W, et al. Am J Hum Genet. 1999 Jun;64(6):1661-9. doi: 10.1086/302416. Am J Hum Genet. 1999. PMID: 10330353 Free PMC article.

8

Van Buchem disease (hyperostosis corticalis generalisata) maps to chromosome 17q12-q21.

Van Hul W, Balemans W, Van Hul E, Dikkers FG, Obee H, Stokroos RJ, Hildering P, Vanhoenacker F, Van Camp G, Willems PJ. Van Hul W, et al. Am J Hum Genet. 1998 Feb;62(2):391-9. doi: 10.1086/301721. Am J Hum Genet. 1998. PMID: 9463328 Free PMC article.

9

The syndromic status of sclerosteosis and van Buchem disease.

Beighton P, Barnard A, Hamersma H, van der Wouden A. Beighton P, et al. Clin Genet. 1984 Feb;25(2):175-81. doi: 10.1111/j.1399-0004.1984.tb00481.x. Clin Genet. 1984. PMID: 6323069

10

Facial paralysis at the age of 2 months as a first clinical sign of van Buchem disease (endosteal hyperostosis).

Fryns JP, Van den Berghe H. Fryns JP, et al. Eur J Pediatr. 1988 Jan;147(1):99-100. doi: 10.1007/BF00442624. Eur J Pediatr. 1988. PMID: 3276528

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