(Q36667820)

English

Preselection of cases through expert clinical and radiological review significantly increases mutation detection rate in multiple epiphyseal dysplasia

scientific article published on 29 November 2006

In more languages

Statements

scholarly article

1 reference

Europe PubMed Central

PMC publication ID

15 August 2017

Preselection of cases through expert clinical and radiological review significantly increases mutation detection rate in multiple epiphyseal dysplasia (English)

1 reference

Europe PubMed Central

PMC publication ID

15 August 2017

Martine Le Merrer

10

object named as

Martine Le Merrer

0 references

Andrea Superti-Furga

15

object named as

Andrea Superti-Furga

0 references

object named as

Geert R Mortier

6

0 references

Valérie Cormier-Daire

object named as

Valerie Cormier-Daire

11

0 references

object named as

Sheila Unger

9

0 references

author name string

Andreas Zankl

1

1 reference

Europe PubMed Central

PMC publication ID

15 August 2017

Gail C Jackson

2

1 reference

Europe PubMed Central

PMC publication ID

15 August 2017

Laureane Mittaz Crettol

3

1 reference

Europe PubMed Central

PMC publication ID

15 August 2017

Jacky Taylor

4

1 reference

Europe PubMed Central

PMC publication ID

15 August 2017

Rob Elles

5

1 reference

Europe PubMed Central

PMC publication ID

15 August 2017

Jurgen Spranger

7

1 reference

Europe PubMed Central

PMC publication ID

15 August 2017

Bernhard Zabel

8

1 reference

Europe PubMed Central

PMC publication ID

15 August 2017

Christine M Hall

12

1 reference

Europe PubMed Central

PMC publication ID

15 August 2017

Michael J Wright

13

1 reference

Europe PubMed Central

PMC publication ID

15 August 2017

Luisa Bonafe

14

1 reference

Europe PubMed Central

PMC publication ID

15 August 2017

Michael D Briggs

16

1 reference

Europe PubMed Central

PMC publication ID

15 August 2017

publication date

29 November 2006

1 reference

Europe PubMed Central

PMC publication ID

15 August 2017

European Journal of Human Genetics

1 reference

Europe PubMed Central

PMC publication ID

15 August 2017

15

1 reference

Europe PubMed Central

PMC publication ID

15 August 2017

2

1 reference

Europe PubMed Central

PMC publication ID

15 August 2017

150-154

1 reference

Europe PubMed Central

PMC publication ID

15 August 2017

https://scigraph.springernature.com/pub.10.1038/sj.ejhg.5201744

0 references

The phenotypic spectrum in patients with arginine to cysteine mutations in the COL2A1 gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2670452

30 September 2017

COMP mutation screening as an aid for the clinical diagnosis and counselling of patients with a suspected diagnosis of pseudoachondroplasia or multiple epiphyseal dysplasia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2670452

30 September 2017

Mutations in the known genes are not the major cause of MED; distinctive phenotypic entities among patients with no identified mutations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2670452

30 September 2017

Missense mutations in the beta strands of the single A-domain of matrilin-3 result in multiple epiphyseal dysplasia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2670452

30 September 2017

Pseudoachondroplasia and multiple epiphyseal dysplasia: mutation review, molecular interactions, and genotype to phenotype correlations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2670452

30 September 2017

Mutations in the diastrophic dysplasia sulfate transporter (DTDST) gene (SLC26A2): 22 novel mutations, mutation review, associated skeletal phenotypes, and diagnostic relevance

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2670452

30 September 2017

The Staden package, 1998

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2670452

30 September 2017

Recessively inherited multiple epiphyseal dysplasia with normal stature, club foot, and double layered patella caused by a DTDST mutation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2670452

30 September 2017

Comprehensive screening of multiple epiphyseal dysplasia mutations in Japanese population.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2670452

20 September 2018

Screening for genomic rearrangements in families with breast and ovarian cancer identifies BRCA1 mutations previously missed by conformation-sensitive gel electrophoresis or sequencing

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201744

21 January 2018

Identifiers

10.1038/SJ.EJHG.5201744

1 reference

Europe PubMed Central

PMC publication ID

15 August 2017

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

15 August 2017

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

15 August 2017

ResearchGate publication ID

0 references

Sitelinks

Wikipedia(0 entries)

Wikibooks(0 entries)

Wikinews(0 entries)

Wikiquote(0 entries)

Wikisource(0 entries)

Wikiversity(0 entries)

Wikivoyage(0 entries)

Wiktionary(0 entries)

Multilingual sites(0 entries)

Retrieved from "https://www.wikidata.org/w/index.php?title=Q36667820&oldid=2084484074"