(Q24517890)

2 July 2017

title

A clinical and genetic study of campomelic dysplasia (English)

1 reference

2 July 2017

1 reference

S. Mansour

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A7666392

1 August 2024

C. M. Hall

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A7666392

1 August 2024

M. E. Pembrey

series ordinal

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A7666392

1 August 2024

I. D. Young

series ordinal

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A7666392

1 August 2024

language of work or name

English

0 references

publication date

1 June 1995

1 reference

full work available at URL

2 July 2017

https://jmg.bmj.com/content/32/6/415.full.pdf

file format

Portable Document Format

online access status

open access

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A7666392

https://europepmc.org/articles/PMC1050480

1 August 2024

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A7666392

https://europepmc.org/articles/PMC1050480?pdf=render

1 August 2024

file format

Portable Document Format

online access status

open access

content deliverer

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A7666392

https://syndication.highwire.org/content/doi/10.1136/jmg.32.6.415

1 August 2024

1 reference

https://api.crossref.org/works/10.1136/JMG.32.6.415

Journal of Medical Genetics

1 August 2024

published in

1 reference

2 July 2017

volume

32

1 reference

2 July 2017

issue

6

1 reference

2 July 2017

page(s)

415-420

1 reference

Assignment of an autosomal sex reversal locus (SRA1) and campomelic dysplasia (CMPD1) to 17q24.3-q25.1

2 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=1050480

Campomelic dysplasia and autosomal sex reversal caused by mutations in an SRY-related gene

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050480

Campomelic dysplasia: evidence of autosomal dominant inheritance

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050480

The campomelic syndrome: review, report of 17 cases, and follow-up on the currently 17-year-old boy first reported by Maroteaux et al in 1971.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050480

Congenital bowing of the long bones in two sisters

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050480

Campomelic dysplasia associated with a de novo 2q;17q reciprocal translocation

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050480

Campomelic dysplasia with sex reversal: morphological and cytogenetic studies of a case.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050480

Campomelic dysplasia. Further elucidation of a distinct entity.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050480

Familial camptomelic dwarfism

29 November 2018

1 reference

https://pubmed.ncbi.nlm.nih.gov/7666392

12 December 2020

Heterogeneity in the campomelic syndromes: long and short bone varieties

1 reference

https://pubmed.ncbi.nlm.nih.gov/7666392

12 December 2020

The camptomelic syndrome in two female siblings

1 reference

https://pubmed.ncbi.nlm.nih.gov/7666392

12 December 2020

Sex-reversed XY females with campomelic dysplasia are H-Y negative

1 reference

https://pubmed.ncbi.nlm.nih.gov/7666392

12 December 2020

Prenatal diagnosis of campomelic dwarfism

1 reference

https://pubmed.ncbi.nlm.nih.gov/7666392

12 December 2020

Prenatal diagnosis of campomelic dysplasia by ultrasonography

1 reference

https://pubmed.ncbi.nlm.nih.gov/7666392

12 December 2020

Campomelic dysplasia--an underdiagnosed condition?

1 reference

https://pubmed.ncbi.nlm.nih.gov/7666392

12 December 2020

Campomelic dysplasia without overt campomelia

1 reference

https://pubmed.ncbi.nlm.nih.gov/7666392

12 December 2020

46, XY female: anti-androgenic effect of oral contraceptive?

1 reference

https://pubmed.ncbi.nlm.nih.gov/7666392

12 December 2020

[The campomelic syndrome]

1 reference

https://pubmed.ncbi.nlm.nih.gov/7666392

12 December 2020

Letter: Camptomelic syndrome in siblings

1 reference

https://pubmed.ncbi.nlm.nih.gov/7666392

12 December 2020

A chromosome 17q de novo paracentric inversion in a patient with campomelic dysplasia; case report and etiologic hypothesis

1 reference

Crossref

https://api.crossref.org/works/10.1136%2FJMG.32.6.415

7 January 2021

inferred from DOI database lookup

Identifiers

DOI

10.1136/JMG.32.6.415

1 reference

OpenCitations bibliographic resource ID

2 July 2017

3863275

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

3863275

1 reference