(Q34389785)

1 August 2017

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

1 reference

1 August 2017

Balemans W

1

1 reference

1 August 2017

Van Den Ende J

2

1 reference

1 August 2017

Freire Paes-Alves A

3

1 reference

1 August 2017

Dikkers FG

4

1 reference

1 August 2017

Willems PJ

5

1 reference

1 August 2017

Vanhoenacker F

6

1 reference

1 August 2017

de Almeida-Melo N

7

1 reference

1 August 2017

Alves CF

8

1 reference

1 August 2017

Stratakis CA

9

1 reference

1 August 2017

Hill SC

10

1 reference

1 August 2017

Van Hul W

11

1 reference

1 August 2017

language of work or name

English

0 references

publication date

1 June 1999

1 reference

American Journal of Human Genetics

1 August 2017

1 reference

1 August 2017

64

1 reference

1 August 2017

1661-1669

1 reference

1 August 2017

6

1 reference

Sclerosteosis: report of a case in a black African man.

1 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377909

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377909

L1-associated diseases: clinical geneticists divide, molecular geneticists unite.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377909

A comprehensive genetic map of the human genome based on 5,264 microsatellites

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377909

Sclerosteosis in a Spanish male: first report in a person of Mediterranean origin

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377909

Two cases of Van Buchem's disease

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377909

Easy calculations of lod scores and genetic risks on small computers

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377909

The syndromic status of sclerosteosis and van Buchem disease.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377909

Hyperostosis corticalis generalisata (Van Buchem)

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377909

Surgical treatment of van Buchem's disease.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377909

Autosomal dominant endosteal hyperostosis. Report of a Spanish family with neurological involvement.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377909

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377909

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377909

The clinical features of sclerosteosis. A review of the manifestations in twenty-five affected individuals

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377909

Dominant generalized cortical hyperostosis with multiple involvement of the cranial nerves

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377909

Autosomal Dominant Osteosclerosis

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377909

Van Buchem's disease (hyperostosis corticalis generalisata)

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377909

Sclerosteosis. A case report

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377909

Sclerosteosis: neurogenetic and pathophysiologic analysis of an American kinship.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377909

Sclerosteosis involving the temporal bone: clinical and radiologic aspects.

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377909

Hyperostosis corticalis generalisata congenita

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377909

Van Buchem's disease (hyperostosis corticalis generalisata familiaris). A case report

27 October 2018

1 reference

12 December 2020

New cases of familial generalized cortical hyperostosis with dominant transmission (Worth's type) (author's transl)

1 reference

12 December 2020

Autosomal dominant osteosclerosis

1 reference

12 December 2020

[Partial empty sella turcica in Van Buchem's disease]

1 reference

12 December 2020

Van Buchem disease: surgical treatment of the mandible

1 reference

12 December 2020

Van Buchem's disease with classical radiological features and appearances on cranial computed tomography

1 reference

12 December 2020

[Endosteal hyperostosis with recessive transmission (Van Buchem's disease). A case report]

1 reference

12 December 2020

Optimization of microsatellite analysis for genetic mapping

1 reference

12 December 2020

[Van Buchem disease. Study of 2 cases and review of the literature]

1 reference

12 December 2020

Perspectives of identity by descent (IBD) mapping in founder populations

1 reference

12 December 2020

[Generalized hyperostosis corticalis (dominant transmission) (Worth's type)]

1 reference

12 December 2020

Identifiers

DOI

10.1086/302416

1 reference

1 August 2017

1 reference

1 August 2017

1 reference