Revisit of multiple epiphyseal dysplasia: ethnic difference in genotypes and comparison of radiographic features linked to the COMP and MATN3 genes. (Q53403831)

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scientific article published on 30 September 2011

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English	Revisit of multiple epiphyseal dysplasia: ethnic difference in genotypes and comparison of radiographic features linked to the COMP and MATN3 genes.	scientific article published on 30 September 2011

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scholarly article

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13 February 2020

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

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multiple epiphyseal dysplasia

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based on heuristic

inferred from title

18

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Sheila Unger

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Andrea Superti-Furga

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Andrea Superti-Furga

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Hae-Ryong Song

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Chang-Wug Oh

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Ok-Hwa Kim

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Hyunwoong Park

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Tae-Joon Cho

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Gen Nishimura

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Shiro Ikegawa

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In Ho Choi

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Hyun Woo Kim

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Won Joon Yoo

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Jong Sup Shim

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Chin Youb Chung

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Changhoon Jeong

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Kwang Soon Song

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Sung Im Cho

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Im Kyung Yeo

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So Yeon Kim

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Seungman Park

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Sung Sup Park

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30 September 2011

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American Journal of Medical Genetics

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155A

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2669-2680

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13 February 2020

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

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34246

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34246

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34246

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34246

21 January 2018

Autosomal recessive multiple epiphyseal dysplasia in a Korean girl caused by novel compound heterozygous mutations in the DTDST (SLC26A2) gene

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34246

21 January 2018

Detecting polymorphisms and mutations in candidate genes

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34246

21 January 2018

Identification of nine novel mutations in cartilage oligomeric matrix protein in patients with pseudoachondroplasia and multiple epiphyseal dysplasia

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34246

21 January 2018

Comprehensive screening of multiple epiphyseal dysplasia mutations in Japanese population.

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34246

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34246

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34246

21 January 2018

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://api.crossref.org/works/10.1002%2FAJMG.A.34246

21 January 2018

MED, COMP, multilayered and NEIN: an overview of multiple epiphyseal dysplasia

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34246

21 January 2018

Novel types of COMP mutations and genotype-phenotype association in pseudoachondroplasia and multiple epiphyseal dysplasia.

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34246

21 January 2018

Novel and recurrent mutations clustered in the von Willebrand factor A domain of MATN3 in multiple epiphyseal dysplasia

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34246

21 January 2018

Autosomal recessive multiple epiphyseal dysplasia with homozygosity for C653S in the DTDST gene: double-layer patella as a reliable sign

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34246

21 January 2018

Clinical and radiographic findings in multiple epiphyseal dysplasia caused by MATN3 mutations: description of 12 patients.

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34246

21 January 2018

Molecular diagnosis is important to confirm suspected pseudoachondroplasia

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34246

21 January 2018

Predicting deleterious amino acid substitutions

1 reference

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21 January 2018

Human non-synonymous SNPs: server and survey

1 reference

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21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34246

21 January 2018

Identification of cartilage oligomeric matrix protein (COMP) gene mutations in patients with pseudoachondroplasia and multiple epiphyseal dysplasia

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34246

21 January 2018

Multiple epiphyseal dysplasia: clinical and radiographic features, differential diagnosis and molecular basis

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34246

21 January 2018

Multilayered patella: similar radiographic findings in pseudoachondroplasia and recessive multiple epiphyseal dysplasia.

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34246

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34246

21 January 2018

Identifiers

10.1002/AJMG.A.34246

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