(Q21093302)

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Recessive multiple epiphyseal dysplasia (rMED) with homozygosity for C653S mutation in the DTDST gene--phenotype, molecular diagnosis and surgical treatment of habitual dislocation of multilayered patella: case report

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scholarly article

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Recessive multiple epiphyseal dysplasia (rMED) with homozygosity for C653S mutation in the DTDST gene--phenotype, molecular diagnosis and surgical treatment of habitual dislocation of multilayered patella: case report (English)

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multiple epiphyseal dysplasia

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based on heuristic

inferred from title

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based on heuristic

inferred from title

Andrea Superti-Furga

2

object named as

Andrea Superti-Furga

author given names

Andrea

author last names

Superti-Furga

1 reference

14 July 2022

4

object named as

Luisa Bonafé

author given names

Luisa

author last names

Bonafé

1 reference

14 July 2022

1

object named as

Timo Hinrichs

author given names

Timo

author last names

Hinrichs

1 reference

14 July 2022

author name string

Wolf-Dieter Scheiderer

3

author given names

Wolf-Dieter

author last names

Scheiderer

1 reference

14 July 2022

Rolf E Brenner

5

author given names

Rolf E

author last names

Brenner

1 reference

14 July 2022

Thomas Mattes

6

author given names

Thomas

author last names

Mattes

1 reference

14 July 2022

language of work or name

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publication date

2010

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BMC Musculoskeletal Disorders

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11

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1

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110

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A mutation in COL9A1 causes multiple epiphyseal dysplasia: further evidence for locus heterogeneity

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2902411

19 March 2017

Mutations in cartilage oligomeric matrix protein causing pseudoachondroplasia and multiple epiphyseal dysplasia affect binding of calcium and collagen I, II, and IX

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2902411

19 March 2017

COL9A3: A third locus for multiple epiphyseal dysplasia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2902411

19 March 2017

The diastrophic dysplasia gene encodes a novel sulfate transporter: positional cloning by fine-structure linkage disequilibrium mapping

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2902411

19 March 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2902411

19 March 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2902411

19 March 2017

Mutations in exon 17B of cartilage oligomeric matrix protein (COMP) cause pseudoachondroplasia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2902411

19 March 2017

Preselection of cases through expert clinical and radiological review significantly increases mutation detection rate 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=2902411

12 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2902411

12 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=2902411

12 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=2902411

12 September 2017

Atelosteogenesis type II is caused by mutations in the diastrophic dysplasia sulfate-transporter gene (DTDST): evidence for a phenotypic series involving three chondrodysplasias

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2902411

12 September 2017

The Problem of Chondromalacia Patellae

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2902411

12 September 2017

A chondrodysplasia family produced by mutations in the diastrophic dysplasia sulfate transporter gene: genotype/phenotype correlations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2902411

27 September 2017

The classic. Recurrent dislocation of the patella: operative treatment

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2902411

27 September 2017

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

1 reference

https://api.crossref.org/works/10.1186%2F1471-2474-11-110

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1186%2F1471-2474-11-110

21 January 2018

Midterm results of cemented Press Fit Condylar Sigma total knee arthroplasty system

1 reference

https://api.crossref.org/works/10.1186%2F1471-2474-11-110

21 January 2018

Surgical management of a double-layered patella: a case report.

1 reference

https://api.crossref.org/works/10.1186%2F1471-2474-11-110

21 January 2018

Perzentile für den Body-mass-Index für das Kindes- und Jugendalter unter Heranziehung verschiedener deutscher Stichproben

1 reference

https://api.crossref.org/works/10.1186%2F1471-2474-11-110

21 January 2018

[Transposition of the tibial tuberosity in recurrent dislocations and painful femoro-patellar syndromes. Study of a continuous series of 140 operated knees]

1 reference

https://pubmed.ncbi.nlm.nih.gov/20525296

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Rationale of the Knee Society clinical rating system

1 reference

https://pubmed.ncbi.nlm.nih.gov/20525296

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Double-layered patella in multiple epiphyseal dysplasia: a valuable clue in the diagnosis

1 reference

https://pubmed.ncbi.nlm.nih.gov/20525296

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Double patellae in multiple epiphysial dysplasia

1 reference

https://pubmed.ncbi.nlm.nih.gov/20525296

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Double-layered patella in multiple epiphyseal dysplasia is not exclusive to DTDST mutation

1 reference

https://pubmed.ncbi.nlm.nih.gov/20525296

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Recurrent Dislocation and the High-riding Patella

1 reference

https://pubmed.ncbi.nlm.nih.gov/20525296

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

[Medial-and simultaneous anterior-transfer of the tibial tuberosity (author's transl)]

1 reference

https://pubmed.ncbi.nlm.nih.gov/20525296

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Double patella. A case of duplication in the coronal plane

1 reference

https://pubmed.ncbi.nlm.nih.gov/20525296

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

[Displacement of the tibial tuberosity in retropatellar cartilage damage and recurrent patellar dislocation]

1 reference

https://pubmed.ncbi.nlm.nih.gov/20525296

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1186/1471-2474-11-110

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release_gdvx7gbpn5h7dfd4pcdwlosscq

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