(Q24532090)

4 July 2017

0 references

Homozygous mutations in IHH cause acrocapitofemoral dysplasia, an autosomal recessive disorder with cone-shaped epiphyses in hands and hips (English)

1 reference

acrocapitofemoral dysplasia

4 July 2017

main subject

1 reference

1 reference

4

Anne De Paepe

Anne

De Paepe

1 reference

20 October 2023

Geert R Mortier

7

Geert R

Mortier

1 reference

20 October 2023

Jan Hellemans

1

Jan

Hellemans

1 reference

4 July 2017

Paul J Coucke

2

Paul J

Coucke

1 reference

4 July 2017

Andres Giedion

3

Andres

Giedion

1 reference

4 July 2017

Peter Kramer

5

Peter

Kramer

1 reference

4 July 2017

Frits Beemer

6

Frits

Beemer

1 reference

4 July 2017

language of work or name

English

0 references

publication date

11 March 2003

1 reference

American Journal of Human Genetics

4 July 2017

published in

1 reference

4 July 2017

volume

72

1 reference

4 July 2017

issue

4

1 reference

4 July 2017

page(s)

1040-1046

1 reference

Indian hedgehog signaling regulates proliferation and differentiation of chondrocytes and is essential for bone formation

4 July 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180335

A potential catalytic site revealed by the 1.7-A crystal structure of the amino-terminal signalling domain of Sonic hedgehog

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180335

A novel mutation in the IHH gene causes brachydactyly type A1: a 95-year-old mystery resolved

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180335

Expression and localization of Indian hedgehog (Ihh) and parathyroid hormone related protein (PTHrP) in the human growth plate during pubertal development

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180335

Frameshift mutation in the cartilage-derived morphogenetic protein 1 (CDMP1) gene and severe acromesomelic chondrodysplasia resembling Grebe-type chondrodysplasia

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180335

Genetic manipulation of hedgehog signaling in the endochondral skeleton reveals a direct role in the regulation of chondrocyte proliferation

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180335

Hedgehog signaling in animal development: paradigms and principles

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180335

Mutations in IHH, encoding Indian hedgehog, cause brachydactyly type A-1

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180335

Mutation of the gene encoding the ROR2 tyrosine kinase causes autosomal recessive Robinow syndrome

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180335

Indian hedgehog coordinates endochondral bone growth and morphogenesis via parathyroid hormone related-protein-dependent and -independent pathways

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180335

Sonic hedgehog protein signals not as a hydrolytic enzyme but as an apparent ligand for patched

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180335

Regulation of rate of cartilage differentiation by Indian hedgehog and PTH-related protein

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180335

Autoproteolysis in hedgehog protein biogenesis

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180335

Easy calculations of lod scores and genetic risks on small computers

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180335

Homozygosity mapping: a way to map human recessive traits with the DNA of inbred children

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180335

Cholesterol modification of Hedgehog family proteins

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180335

Distinct mutations in the receptor tyrosine kinase gene ROR2 cause brachydactyly type B.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180335

Toward a molecular understanding of skeletal development

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180335

Late sequelae of infantile meningococcemia in growing bones of children

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180335

Chondro-osseous growth abnormalities after meningococcemia. A clinical and histopathological study.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180335

Acrocapitofemoral dysplasia: an autosomal recessive skeletal dysplasia with cone shaped epiphyses in the hands and hips.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180335

The mutational spectrum of brachydactyly type C

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180335

Recessive Robinow syndrome, allelic to dominant brachydactyly type B, is caused by mutation of ROR2.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180335

The product of hedgehog autoproteolytic cleavage active in local and long-range signalling

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180335

Grebe syndrome: clinical and radiographic findings in affected individuals and heterozygous carriers

29 November 2018

1 reference

https://pubmed.ncbi.nlm.nih.gov/12632327

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Phalangeal cone-shaped epiphyses of the hand: their natural history, diagnostic sensitivity, and specificity in cartilage hair hypoplasia and the trichorhinophalangeal syndromes I and II

1 reference

https://pubmed.ncbi.nlm.nih.gov/12632327

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

MRI evaluation of growth plate closure rate and pattern in the normal knee joint

1 reference

https://pubmed.ncbi.nlm.nih.gov/12632327

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1086/374318

1 reference

release_bqdymib4hfbcpkzfzxux5lysla

4 July 2017

Fatcat ID

0 references

OpenCitations bibliographic resource ID

4467154

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

4467154

1 reference