Van Buchem disease (hyperostosis corticalis generalisata) maps to chromosome 17q12-q21. (Q34384519)

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9 November 2019

title

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

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9 November 2019

9

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9 November 2019

author name string

Van Hul W

1

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9 November 2019

Balemans W

2

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9 November 2019

Van Hul E

3

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9 November 2019

Dikkers FG

4

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9 November 2019

Obee H

5

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9 November 2019

Stokroos RJ

6

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9 November 2019

Hildering P

7

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9 November 2019

Vanhoenacker F

8

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9 November 2019

Willems PJ

10

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9 November 2019

language of work or name

English

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publication date

1 February 1998

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American Journal of Human Genetics

9 November 2019

published in

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9 November 2019

volume

62

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9 November 2019

issue

2

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9 November 2019

page(s)

391-399

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Localization of a gene for autosomal dominant osteopetrosis (Albers-Schönberg disease) to chromosome 1p21

9 November 2019

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376897

Linkage of a gene causing high bone mass to human chromosome 11 (11q12-13)

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376897

Pycnodysostosis, a lysosomal disease caused by cathepsin K deficiency

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376897

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=1376897

A somatic cell hybrid map of the long arm of human chromosome 17, containing the familial breast cancer locus (BRCA1).

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376897

Faster sequential genetic linkage computations

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376897

High-density genetic map of the BRCA1 region of 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=1376897

6 July 2018

Skeletal growth factors

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376897

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=1376897

Carbonic anhydrase II deficiency identified as the primary defect in the autosomal recessive syndrome of osteopetrosis with renal tubular acidosis and cerebral calcification

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376897

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=1376897

The hormonal and local regulation of bone formation

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376897

Hyperostosis corticalis generalisata. Eight new cases.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376897

Van Buchem's disease (hyperostosis corticalis generalisata familiaris). 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=1376897

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=1376897

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=1376897

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=1376897

Second international workshop on human chromosome 17.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376897

Dinucleotide repeat polymorphism in the THRA1 gene

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376897

Generalized Cortical Hyperostosis (Van Buchem Disease): Nosologic Considerations

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376897

Sclerosteosis - An autosomal recessive disorder

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376897

Direct stimulation of bone resorption by thyroid hormones

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376897

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=1376897

Avoiding recomputation in linkage analysis.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376897

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=1376897

Hyperostosis corticalis generalisata. Report of seven cases

27 October 2018

1 reference

12 December 2020

Facial nerve grading systems

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

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

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

An uncommon familial systemic disease of the skeleton: hyperostosis corticalis generalisata familiaris

1 reference

12 December 2020

Identifiers

DOI

10.1086/301721

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9463328%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9463328%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

1 reference