關於 van buchem disease ，我們在網路上蒐集到這些相關的討論、資訊與評價

#11. Van Buchem's Disease (Hyperostosis Corticalis Generalisata ...

Van Buchem, in the only clearly defined work on this topic, has delineated a clinical entity called hyperostosis corticalis generalisata familiaris (5, 6).

#12. Two cases of Van Buchem's disease

Edinburgh, Scotland. SUMMARY A brother and sister suffering from hyperostosis corticalis generalisata familiaris (van. Buchem's disease) are described.

#13. Van Buchem disease: lifetime evolution of radioclinical features

Van Buchem disease is a rare autosomal-recessive disease that is radiologically characterized by hyperostosis of the cranial and the tubular ...

#14. SOST-related sclerosing bone dysplasia: MedlinePlus Genetics

Van Buchem disease represents the milder form of the disorder. People with van Buchem disease are typically of average height and do not have ...

#15. KEGG DISEASE: Hyperostosis corticalis generalisata

Hyperostosis corticalis generalisata, also known as Van Buchem disease (VBCH), is an autosomal recessive disease. This disease is characterized by ...

#16. Van Buchem Disease (VBCH) - MalaCards

Orphanet: Hyperostosis corticalis generalisata, also known as van Buchem disease, is a rare craniotubular hyperostosis characterized by hyperostosis of the ...

#17. Van Buchem Disease: First Case Report from the Indian ...

Van Buchem disease. ▻ cranial nerve. ▻ hyperostosis corticalis generalisata. Abstract. Van Buchem disease is a rare autosomal recessive ...

#18. [PDF] Skallagrímsson : The first case of Van Buchem disease

KeywoRdS Egill Skallagrímsson, Paget's disease of bone, Van Buchem disease deClARATion of inTeReSTS No conflict of interests declared.

#19. Hyperostosis corticalis generalisata (Van Buchem disease ...

Hyperostosis corticalis generalisata (Van Buchem disease; MIM 239100) and sclerosteosis (MIM 269500) are autosomal recessive sclerosing bone dysplasias with ...

#20. Van Buchem disease

Egill Skallagrímsson, a tenth-century Viking, was a colourful warrior poet and an early anti-hero. The thickness and strength of his skull and his very ugly ...

#21. Van Buchem Disease Bioinformatics Tool - Novus Biologicals

Learn more about Van Buchem Disease from related diseases, pathways, genes and PTMs with the Novus Bioinformatics Tool.

#22. NIH GARD Information: Van Buchem disease type 2

NIH GARD Information: Van Buchem disease type 2. Print. This information is provided by the National Institutes of Health (NIH) Genetic and Rare Diseases ...

#23. Van Buchem disease: First case report in Taiwan. - Europe PMC

Van Buchem disease (VBD) is a very rare autosomal recessive disease. According to our review of the relevant literature, this article is the ...

#24. Clinical effects of sclerosteosis and van Buchem disease. Notes

van Buchem disease (hyperostosis corticalis generalisata) maps to chromosome 17q12-q21. 391–399. Copyright © 1998; with permission from elsevier. 28. Source ...

#25. Genomic deletion of a long-range bone ... - Genome Res

... bone enhancer misregulates sclerostin in Van Buchem disease ... affected by Van Buchem (VB) disease, a severe sclerosing bone dysplasia.

#26. Van Buchem disease | Eurorad

Van Buchem disease (VBD) is a rare autosomal recessive bone pathology, classified as familiar generalised cortical hyperostosis (FGCH) and ...

#27. The syndromic status of sclerosteosis and van Buchem disease

Key words: Autosomal recessive inheritance; craniotubular hyperostoses; sclerosing bone dys- plasias; skeletal dysplasia. Sclerosteosis and van Buchem disease ...

#28. Looking for new anabolic treatment from rare diseases of ...

In Sclerosteosis or van Buchem disease (lower panel), the mutation/deletion in SOST gene, that causes a defect of sclerostin production, reduces the levels of ...

#29. Van Buchem's disease (hyperostosis corticalis generalisata)

Abstract The features of Van Buchem's disease are described, affecting six members of one family, spanning three generations, of ages from 7 to 64 years.

#30. Sclerostin in Mineralized Matrices and van Buchem Disease

-2002-. Identification of a 52 kb deletion downstream of the SOST gene in patients with van Buchem disease. J Med Genet 39:91–97.

#31. Van Buchem's disease - Oxford Reference

van Buchem's disease. Quick Reference. A disorder (hyperostosis corticalis generalisata, hyperphosphataaemia tarda, leontiasis ossea) in which there is ...

#32. Disorders of LRP5 - Van Buchem

Van Buchem disease type 2, autosomal dominant, is sclerosing bone dysplasia, that can be caused by mutation in the Low-Density Lipoprotein Receptor-Related ...

#33. Van Buchem disease decoded - Medscape

The new study suggests that the deletion of a large noncoding DNA segment on human chromosome 17 is responsible for Van Buchem disease.

#34. Surgical treatment of van Buchem's disease

References. Van Buchem FSP; Hadders HN; Ubbens R. An uncommon familial systemic disease of the skeleton: Hyperostosis corticalis generalisata familiaris.

#35. Title: Genetics of Sost/SOST in sclerosteosis and van Buchem ...

"Genetics of Sost/SOST in sclerosteosis and van Buchem disease animal models". United States. https://doi.org/10.1016/j.metabol.2017.10.005.

#36. Van Buchem disease - Wikidata

Van Buchem disease. genetic skeletal disease. Hyperostosis corticalis generalisata. In more languages. Spanish. No label defined.

#37. Localization of the Gene for Sclerosteosis to the van Buchem ...

this chromosomal region of the gene causing van. Buchem disease, a rare autosomal recessive condition with a hyperostosis similar to sclerosteosis.

#38. Syringohydromyelia with Van Buchem disease.

Syringohydromyelia with Van Buchem disease. N Prabhu, S Joseph, A Gupta and G S Kesavadas. American Journal of Neuroradiology February 1997, ...

#39. Van Buchem disease - Rare Disease Day 2023

Sign me up for updates! Be the first to hear the latest information about the campaign. Subscribe. 14.

#40. Genetics of Sost/SOST in sclerosteosis and van Buchem ...

van Buchem Disease. van Buchem disease (VBD) or hyperostosis corticalis generalisata (MIM 239100) is a rare autosomal recessive bone dysplasia ...

#41. 10. - DOI

沒有這個頁面的資訊。

#42. Orthobullets - Facebook

The illustration shows an example of Van Buchem disease, an autosomal recessive disorder characterized by hyperostosis of the skull, mandible, clavicles,...

#43. Frans van Buchem - The Seven Countries Study

In 1954 he diagnosed a patient with an uncommon familial systemic disease of the skeleton, hyperosteosis corticales generalisata familiaris. In 1955 he ...

#44. Polymorphisms in the sclerosteosis/van Buchem disease ...

Osteoporosis has a strong genetic component, but the genes involved are poorly defined. We studied whether the sclerosteosis/van Buchem disease gene (SOST) ...

#45. De ziekte van van Buchem, presentatie op de... | Posters

ME van Egmond, FG Dikkers 1, AM Boot, OF Brouwer. Author Affiliations ... Diagnosis of van Buchem disease was genetically confirmed.

#46. References - PAMJ - Clinical Medicine

Van Buchem F, Hadders H, Hansen J, Woldring MG. ... Van Buchem disease (hyperostosis corticalis generalisata) maps to chromosome 17q12-q21. Am J Hum Genet.

#47. Genetic testing - Van Buchem, disease ... (See related ... - IVAMI

Genetic testing - Van Buchem, disease ... (See related sclerosing bone dysplasia SOST).

#48. Genetics of Sost/SOST in sclerosteosis and van ... - X-MOL

Sclerosteosis and van Buchem disease (VBD) are two rare autosomal recessive disorders that results from osteoblast hyperactivity, ...

#49. Polymorphisms in the sclerosteosis/van Buchem disease ...

We studied whether the sclerosteosis/van Buchem disease gene (SOST) is an osteoporosis-risk gene by examining its association with bone- mineral density (BMD).

#50. Literature citations | UniProt

Van Buchem disease is an autosomal recessive skeletal dysplasia characterised by generalised bone overgrowth, predominantly in the skull and ...

#51. Van Buchem disease - Scholarly Publications Leiden University

Van Buchem disease (VBD) or “hyperostosis corticalis generalisata familiaris” is a rare, autosomal recessive, bone sclerosing dysplasia, first ...

#52. Van Buchem disease type 2 - RareGuru

Information on Van Buchem disease type 2, which may include symptoms, causes, inheritance, treatments, orphan drugs, associated orgs, and other relevant ...

#53. Van Buchem disease - Pacs.de

Van Buchem disease (VBD) is an extremely rare hereditary sclerosing bone dysplasia, also known as hyperostosis corticalis generalisata.

#54. A rare cause of facial nerve palsy in children: Hyperostosis ...

Van Buchem disease is a hereditary bone disease first described by Van Buchem et al in 1955 as “hyperostosis corticalis generalisata familiaris” ...

#55. A Novel Mutation in a Gene Causes Sclerosteosis in a Family ...

Chromosomal region 17q12-q21 is responsible for two similar hyperostosis conditions, sclerosteosis and van Buchem disease (VBCH); however, they involve ...

#56. definition of Buchem disease by Medical dictionary

van Buchem disease. An autosomal recessive condition (OMIM:239100) characterised by hyperostosis of the skull, mandible, clavicles, ribs and diaphyseal ...

#57. Syringohydromyelia with Van Buchem disease

Syringohydromyelia with Van Buchem disease. Prabhu, N; Joseph, S; Gupta, A; Sanjee, G; Kesavadas. URI: http://dspace.sctimst.ac.in/jspui/handle/123456789/ ...

#58. Sclerostin (SOST)

Sclerosteosis is a serious, autosomal recessive disease with thick bones, entrapment of cranial nerves leading to deafness and ... Van Buchem's Disease.

#59. Human genetics of SOST

Van Buchem disease is a rare sclerosing bone dysplasia, first described by van Buchem et al. in 19551. It is also known.

#60. Van Buchem's disease: maxillo-facial changes, diagnostic ...

article: Van Buchem's disease: maxillo-facial changes, diagnostic classification and surgical treatment - Minerva Stomatologica 1999 May;48(5):227-38 ...

#61. Genomic deletion of a long-range bone enhancer ...

... affected by Van Buchem disease (VB), a severe sclerosing bone dysplasia. ... (sost) from normal (hSOSTwt) or Van Buchem(hSOSTvb D) alleles.

#62. Targeting LRP5 to Increase Bone Formation in Osteoporosis

We fully characterised the clinical features of patients with sclerosteosis in South Africa and of patients with van Buchem disease in the Netherlands and ...

#63. Compare GO annotations related to Van Buchem disease ...

Compare GO annotations related to Van Buchem disease using OMIM genes and OrthoDisease orthologs · Annotations are indicated by colored nodes: mouse, human, rat, ...

#64. Welcome to PhenoDis

Symptom Information Symptom Abundance DB Freq 1 (HPO:0000303) Mandibular prognathia Very frequent 179 / 7739 2 (HPO:0000277) Abnormality of the mandible Very frequent 394 / 7739 3 (HPO:0004437) Cranial hyperostosis Very frequent 55 / 7739

#65. Genomic deletion of a long-range bone ... - eScholarship

... affected by Van Buchem disease (VB), a severe sclerosing bone dysplasia. ... of a long-range bone enhancer misregulates sclerostin in Van Buchem disease.

#66. Van Buchem disease (sequence analysis of SOST gene)

Van Buchem disease (sequence analysis of SOST gene) ... Rare diseases, Neurology / Neuropediatrics, Ophthalmology, Otorhinolaryngology, Dysmorphology ...

#67. Researchers track down cause of a disfiguring bone disease

LIVERMORE, Calif. — Scientists have tracked down the biological trigger that gives rise to Van Buchem disease, a hereditary, ...

#68. Increased bone density in sclerosteosis is due to the ...

We previously mapped sclerosteosis and van Buchem disease to the same chromosomal 17q12–q21 region (17,24) after performing linkage analysis in the extended ...

#69. Worth syndrome as a diagnosis for mandibular osteosclerosis

osteosclerosis: Worth syndrome and Van Buchem disease, both of which are often quoted synonymously in the literature. Dentomaxillofacial Radiology (2011) 40 ...

#70. Sclerostin in Mineralized Matrices and van ... - ProQuest

In this study, we analyzed (a) sclerostin expression using immunohistochemistry, (b) whether the genomic defect in individuals with van Buchem disease (VBD) ...

#71. DOID:0080036 - Disease Ontology

Alternateids. DOID:0080035. Synonyms. van Buchem disease [EXACT]. Parent Relationships. is_a hyperostosis. is_a autosomal recessive disease ...

#72. This rare skull-thickening disease led to a 3-D-printed ...

People with van Buchem disease, a rare bone-thickening condition, have a large chin, high forehead and thickened skull that can lead to ...

#73. Sclerostin in Mineralized Matrices and van Buchem Disease

In this study, we analyzed (a) sclerostin expression using immunohistochemistry, (b) whether the genomic defect in individuals with van Buchem disease (VBD) ...

#74. Autosomal dominant osteopetrosis 1; Van Buchem disease ...

... Autosomal dominant osteopetrosis 1; Van Buchem disease type 2; Osteoporosis with pseudoglioma; Polycystic liver disease 4 with or without kidney cysts.

#75. An uncommon familial systemic disease of the skeleton

known bone diseases were found, although in these there was also a con- ... P. S. P. VAN BUCHEM, H. N. HADDERS AND R. UBBERS.

#76. SOST - sclerostin - WikiGenes

We studied whether the sclerosteosis/van Buchem disease gene (SOST) is an osteoporosis-risk gene by examining its association with bone-mineral density ...

#77. World Journal of Translational Medicine

6, van Lierop AH, Hamdy NA, van Egmond ME, Bakker E, Dikkers FG, Papapoulos SE. Van Buchem disease: clinical, biochemical, and densitometric features of ...

#78. Sclerostin - wikidoc

van Buchem disease is also an autosomal recessive skeletal disease characterized by bone overgrowth. It was first described in 1955 as ...

#79. Pronunciation of the word(s) "Van Buchem's Syndrome".

Pronunciation of the word(s) "Van Buchem's Syndrome". Channel providing free audio/video pronunciation tutorials in English and many other ...

#80. Hereditary Hearing Loss and Its Syndromes

and 15 patients with van Buchem disease in Holland , suggested that the two disorders are the same , the only difference being the occurrence of an ...

#81. Syndromes of the Head and Neck - 第 296 頁 - Google 圖書結果

Van Buchem disease and pseudo-Van Buchem disease Van Buchem disease (generalized cortical hyperostosis) is characterized by osteosclerosis of the skull, ...

#82. NORD Guide to Rare Disorders - 第 205 頁 - Google 圖書結果

Molecular studies have identified a region on the long arm of chromosome 17 - the van Buchem disease gene region ( chromosome 17q11.2 ) .

#83. Diagnostic Imaging of Musculoskeletal Diseases: A Systematic ...

Worth disease is similar to Van Buchem disease except that it is inherited as an autosomal dominant; the sclerosis is generally less impressive and the ...

#84. Bone Morphogenetic Proteins: From Local to Systemic Therapeutics

Table 1 - Common and distinctive features between sclerosteosis, Van Buchem disease and HBM caused by LRP5 mutations. Van Buchem disease The clinical ...

#85. Hereditary Hearing Loss and Its Syndromes

Hyperostosis Corticalis Generalisata Familiaris (van Buchem's Disease). New York : American Elsevier ; 1976. 15. Van der Wouden A. Deafness caused by ...

#86. Encyclopedia of Molecular Mechanisms of Disease

2162 Van Buchem Disease and Sclerosteosis 17q12–q21. Thus far, six different disease-related sequence variants have been described. Three nonsense mutations ...

#87. Gene Regulatory Sequences and Human Disease

Van. Buchem. Disease. Genetic disorders affecting the skeleton are rare, and they comprise a large group of clinically distinct and genetically ...

#88. Osteocytes: clinical relevance - SlideShare

Genetic background: SOST gene • Its product sclerostin • The clinical features caused by SOST mutations - Van Buchem Disease • Therapeutic possibilities ...