(Q35404772)

8 August 2017

0 references

Novel COL9A3 mutation in a family diagnosed with multiple epiphyseal dysplasia: a case report (English)

1 reference

multiple epiphyseal dysplasia

8 August 2017

main subject

1 reference

Changhoon Jeong

1

1 reference

8 August 2017

Jae Young Lee

2

1 reference

8 August 2017

Jiyeon Kim

3

1 reference

8 August 2017

Hyojin Chae

4

1 reference

8 August 2017

Hae-Il Park

5

1 reference

8 August 2017

Myungshin Kim

6

1 reference

8 August 2017

Ok-Hwa Kim

7

1 reference

8 August 2017

Paul Kim

8

1 reference

8 August 2017

Young Kee Lee

9

1 reference

8 August 2017

Jongsun Jung

10

1 reference

8 August 2017

publication date

8 November 2014

1 reference

BMC Musculoskeletal Disorders

8 August 2017

published in

1 reference

8 August 2017

volume

15

1 reference

8 August 2017

page(s)

371

1 reference

https://scigraph.springernature.com/pub.10.1186/1471-2474-15-371

8 August 2017

exact match

0 references

cites work

Routine Microsecond Molecular Dynamics Simulations with AMBER on GPUs. 1. Generalized Born

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4236474

Pseudoachondroplasia and multiple epiphyseal dysplasia: a 7-year comprehensive analysis of the known disease genes identify novel and recurrent mutations and provides an accurate assessment of their relative contribution

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4236474

A genotype-first approach for the molecular and clinical characterization of uncommon de novo microdeletion of 20q13.33

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4236474

The Amber biomolecular simulation programs

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4236474

Human non-synonymous SNPs: server and survey

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4236474

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4236474

Pseudoachondroplasia and multiple epiphyseal dysplasia: New etiologic developments

27 July 2018

2 references

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4236474

27 July 2018

https://api.crossref.org/works/10.1186%2F1471-2474-15-371

Mutations in the region encoding the von Willebrand factor A domain of matrilin-3 are associated with multiple epiphyseal dysplasia.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4236474

Predicting deleterious amino acid substitutions

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4236474

A mutation in the alpha 3 chain of type IX collagen causes autosomal dominant multiple epiphyseal dysplasia with mild myopathy

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4236474

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4236474

Pseudoachondroplasia and multiple epiphyseal dysplasia due to mutations in the cartilage oligomeric matrix protein gene

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4236474

Tissue-specific expression of type IX collagen

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4236474

Comprehensive screening of multiple epiphyseal dysplasia mutations in Japanese population.

27 July 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2474-15-371

Revisit of multiple epiphyseal dysplasia: ethnic difference in genotypes and comparison of radiographic features linked to the COMP and MATN3 genes.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2474-15-371

Numerical integration of the cartesian equations of motion of a system with constraints: molecular dynamics of n-alkanes

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2474-15-371

Recessive multiple epiphyseal dysplasia (rMED): phenotype delineation in eighteen homozygotes for DTDST mutation R279W.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2474-15-371

A mutation in the gene encoding the alpha 2 chain of the fibril-associated collagen IX, COL9A2, causes multiple epiphyseal dysplasia (EDM2)

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2474-15-371

Parametrized Models of Aqueous Free Energies of Solvation Based on Pairwise Descreening of Solute Atomic Charges from a Dielectric Medium

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2474-15-371

Novel COL9A3 mutation in a family with multiple epiphyseal dysplasia

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25381065

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Type IX collagen gene mutations can result in multiple epiphyseal dysplasia that is associated with osteochondritis dissecans and a mild myopathy

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25381065

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1186/1471-2474-15-371

1 reference

Dimensions Publication ID

8 August 2017

0 references

1 reference

8 August 2017

1 reference