(Q35434484)

8 August 2017

Localisation of the gene causing diaphyseal dysplasia Camurati-Engelmann to chromosome 19q13. (English)

1 reference

8 August 2017

Janssens K

1

1 reference

8 August 2017

Gershoni-Baruch R

2

1 reference

8 August 2017

Van Hul E

3

1 reference

8 August 2017

Brik R

4

1 reference

8 August 2017

Guañabens N

5

1 reference

8 August 2017

Migone N

6

1 reference

8 August 2017

Verbruggen LA

7

1 reference

8 August 2017

Ralston SH

8

1 reference

8 August 2017

Bonduelle M

9

1 reference

8 August 2017

Van Maldergem L

10

1 reference

8 August 2017

Vanhoenacker F

11

1 reference

8 August 2017

Van Hul W

12

1 reference

8 August 2017

language of work or name

English

0 references

publication date

1 April 2000

1 reference

Journal of Medical Genetics

8 August 2017

1 reference

8 August 2017

37

1 reference

8 August 2017

4

1 reference

8 August 2017

245-249

1 reference

Suppression of ligand-dependent estrogen receptor activity by bone-resorbing cytokines in human osteoblasts

8 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734563

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734563

Human autosomal recessive osteopetrosis maps to 11q13, a position predicted by comparative mapping of the murine osteosclerosis (oc) mutation.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734563

Identification and characterization of a new latent transforming growth factor-beta-binding protein, LTBP-4

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734563

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734563

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734563

Pycnodysostosis, a lysosomal disease caused by cathepsin K deficiency

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734563

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734563

Vestibular nerve compression in Camurati-Engelmann disease.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734563

Easy calculations of lod scores and genetic risks on small computers

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734563

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734563

Camurati-Engelmann disease. Genetics and clinical manifestations with a review of the literature

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734563

Progressive diaphyseal dysplasia (Camurati-Engelmann): radiographic follow-up and CT findings

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734563

Growth factors and the regulation of bone remodeling

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734563

Heritable metabolic and dysplastic bone diseases

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734563

Sclerosing bone dysplasias ? a target-site approach

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734563

Candidate proto-oncogene bcl-3 encodes a subunit-specific inhibitor of transcription factor NF-kappa B

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734563

Progressive diaphyseal dysplasia: a three-generation family with markedly variable expressivity.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734563

Progressive diaphyseal dysplasia: genetics and clinical and radiologic manifestations.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734563

Camurati-Engelmann disease. A case report

26 September 2018

1 reference

12 December 2020

Required and nonessential functions of nuclear factor-kappa B in bone cells

1 reference

12 December 2020

Glucocorticoid-induced activation of latent transforming growth factor-beta by normal human osteoblast-like cells

1 reference

12 December 2020

Biochemical markers of bone turnover in Camurati-Engelmann disease: a report on four cases in one family

1 reference

12 December 2020

Camurati-Engelmann disease: a late and sporadic case with metaphyseal involvement

1 reference

12 December 2020

Identifiers

DOI

10.1136/JMG.37.4.245

1 reference

8 August 2017

1 reference

8 August 2017

1 reference