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Select item 13768971.

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

W Van Hul, W Balemans, E Van Hul, F G Dikkers, H Obee, R J Stokroos, P Hildering, F Vanhoenacker, G Van Camp, P J Willems

Am J Hum Genet. 1998 Feb; 62(2): 391–399. doi: 10.1086/301721

PMCID:: PMC1376897

Summary PDF–1.2M

Select item 69063012.

Biallelic variants in POLR3GL cause endosteal hyperostosis and oligodontia

Paulien A. Terhal, Judith M. Vlaar, Sjors Middelkamp, Rutger A. J. Nievelstein, Peter G. J. Nikkels, Jamila Ross, Marijn Créton, Jeroen W. Bos, Elsbeth S. M. Voskuil-Kerkhof, Edwin Cuppen, Nine Knoers, Koen L. I. van Gassen

Eur J Hum Genet. 2020 Jan; 28(1): 31–39. Published online 2019 May 14. doi: 10.1038/s41431-019-0427-0

PMCID:: PMC6906301

Abstract Article PDF–1.6M

Select item 58157563.

Van Buchem disease: First case report in Taiwan

Shang-Fu Hsu, Chen-Chun Lin

Medicine (Baltimore) 2017 Dec; 96(50): e9209. Published online 2017 Dec 15. doi: 10.1097/MD.0000000000009209

PMCID:: PMC5815756

Abstract Article PDF–507K

Select item 24967444.

Van Buchem disease.

P. Jacobs

Postgrad Med J. 1977 Aug; 53(622): 497–506. doi: 10.1136/pgmj.53.622.497

PMCID:: PMC2496744

Summary Page Browse PDF–2.3M

Select item 21947085.

Distinctive spinal changes in two patients with unusual forms of autosomal dominant endosteal hyperostosis: a case series

Ali Al Kaissi, Franz Varga, Shahin Zandieh, Klaus Klaushofer, Franz Grill

J Med Case Reports. 2007; 1: 142. Published online 2007 Nov 22. doi: 10.1186/1752-1947-1-142

PMCID:: PMC2194708

Abstract Article PDF–1.6M

Select item 17350356.

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

W Balemans, N Patel, M Ebeling, E Van Hul, W Wuyts, C Lacza, M Dioszegi, F Dikkers, P Hildering, P Willems, J Verheij, K Lindpaintner, B Vickery, D Foernzler, W Van Hul

J Med Genet. 2002 Feb; 39(2): 91–97. doi: 10.1136/jmg.39.2.91

PMCID:: PMC1735035

Summary PDF–186K

Select item 13779097.

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

W Balemans, J Van Den Ende, A Freire Paes-Alves, F G Dikkers, P J Willems, F Vanhoenacker, N de Almeida-Melo, C F Alves, C A Stratakis, S C Hill, W Van Hul

Am J Hum Genet. 1999 Jun; 64(6): 1661–1669. doi: 10.1086/302416

PMCID:: PMC1377909

Summary PDF–734K

Select item 11821398.

Polymorphisms in the Sclerosteosis/van Buchem Disease Gene (SOST) Region Are Associated with Bone-Mineral Density in Elderly Whites

Andre G. Uitterlinden, Pascal P. Arp, Bryan W. Paeper, Patrick Charmley, Sean Proll, Fernando Rivadeneira, Yue Fang, Joyce B. J. van Meurs, Theresa B. Britschgi, John A. Latham, Randall C. Schatzman, Huibert A. P. Pols, Mary E. Brunkow

Am J Hum Genet. 2004 Dec; 75(6): 1032–1045. Published online 2004 Oct 26. doi: 10.1086/426458

PMCID:: PMC1182139

Abstract Article PDF–289K

Select item 11720369.

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

Gabriela G. Loots, Michaela Kneissel, Hansjoerg Keller, Myma Baptist, Jessie Chang, Nicole M. Collette, Dmitriy Ovcharenko, Ingrid Plajzer-Frick, Edward M. Rubin

Genome Res. 2005 Jul; 15(7): 928–935. doi: 10.1101/gr.3437105

PMCID:: PMC1172036

Abstract Article PDF–609K

Select item 49159610.

Two cases of Van Buchem's disease.

J M Dixon, R E Cull, P Gamble

J Neurol Neurosurg Psychiatry. 1982 Oct; 45(10): 913–918. doi: 10.1136/jnnp.45.10.913

PMCID:: PMC491596

Summary Page Browse PDF–1.9M

Select item 1047498111.

LRP5 high bone mass (Worth-type autosomal dominant endosteal hyperostosis): case report and historical review of the literature

Giammarco De Mattia, Michele Maffi, Marta Mosca, Maurizio Mazzantini

Arch Osteoporos. 2023; 18(1): 112. Published online 2023 Sep 2. doi: 10.1007/s11657-023-01319-6

PMCID:: PMC10474981

Abstract Article PDF–871K

Select item 790384612.

Molecular Basis for Craniofacial Phenotypes Caused by Sclerostin Deletion

J. Chen, X. Yuan, I. Pilawski, X. Liu, J. Delgado-Calle, T. Bellido, H. Turkkahraman, J.A. Helms

J Dent Res. 2021 Mar; 100(3): 310–317. Published online 2020 Oct 20. doi: 10.1177/0022034520963584

PMCID:: PMC7903846

Abstract Article PDF–2.5M

Select item 708078013.

A variant of neonatal progeroid syndrome, or Wiedemann–Rautenstrauch syndrome, is associated with a nonsense variant in POLR3GL

Eliane Beauregard-Lacroix, Smrithi Salian, Hyunyun Kim, Sophie Ehresmann, Guylaine DʹAmours, Julie Gauthier, Virginie Saillour, Geneviève Bernard, Grant A. Mitchell, Jean-François Soucy, Jacques L. Michaud, Philippe M. Campeau

Eur J Hum Genet. 2020 Apr; 28(4): 461–468. Published online 2019 Nov 6. doi: 10.1038/s41431-019-0539-6

PMCID:: PMC7080780

Abstract Article PDF–967K

Select item 532883514.

Role and mechanism of action of Sclerostin in bone

Jesus Delgado-Calle, Amy Y. Sato, Teresita Bellido

Bone. Author manuscript; available in PMC 2018 Mar 1.

Published in final edited form as: Bone. 2017 Mar; 96: 29–37. Published online 2016 Oct 12. doi: 10.1016/j.bone.2016.10.007

PMCID:: PMC5328835

Abstract Article PDF–497K

Select item 455309215.

LRP Receptor Family Member Associated Bone Disease

N Lara-Castillo, ML Johnson

Rev Endocr Metab Disord. Author manuscript; available in PMC 2016 Jun 1.

Published in final edited form as: Rev Endocr Metab Disord. 2015 Jun; 16(2): 141–148. doi: 10.1007/s11154-015-9315-2

PMCID:: PMC4553092

Abstract Article PDF–228K

Select item 438817016.

Crystallization and preliminary X-ray crystallographic analysis of the sclerostin-neutralizing Fab AbD09097

Verena Boschert, Eva-Maria Muth, Achim Knappik, Christian Frisch, Thomas D. Mueller

Acta Crystallogr F Struct Biol Commun. 2015 Apr 1; 71(Pt 4): 388–392. Published online 2015 Mar 20. doi: 10.1107/S2053230X1500360X

PMCID:: PMC4388170

Abstract Article PDF–350K

Select item 361739117.

WNT1 Mutations in Families Affected by Moderately Severe and Progressive Recessive Osteogenesis Imperfecta

Shawna M. Pyott, Thao T. Tran, Dru F. Leistritz, Melanie G. Pepin, Nancy J. Mendelsohn, Renee T. Temme, Bridget A. Fernandez, Solaf M. Elsayed, Ezzat Elsobky, Ishwar Verma, Sreelata Nair, Emily H. Turner, Joshua D. Smith, Gail P. Jarvik, Peter H. Byers

Am J Hum Genet. 2013 Apr 4; 92(4): 590–597. doi: 10.1016/j.ajhg.2013.02.009

PMCID:: PMC3617391

Abstract Article PDF–763K

Select item 307007918.

Bone metabolic activity in hyperostosis cranialis interna measured with ¹⁸F-fluoride PET

Jérôme J. Waterval, Thijs M. A. Van Dongen, Robert J. Stokroos, Jaap G. J. Teule, Gerrit J. Kemerink, Boudewijn Brans, Fred H. M. Nieman, Johannes J. Manni

Eur J Nucl Med Mol Imaging. 2011; 38(5): 884–893. Published online 2010 Nov 16. doi: 10.1007/s00259-010-1655-2