The molecular basis of X-linked spondyloepiphyseal dysplasia tarda (Q24533523)

4 July 2017

The molecular basis of X-linked spondyloepiphyseal dysplasia tarda (English)

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spondyloepiphyseal dysplasia tarda

4 July 2017

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16

J Gecz

J

Gecz

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4 July 2017

15

A Munnich

A

Munnich

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20 October 2023

11

D L Rimoin

D L

Rimoin

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4 July 2017

A K Gedeon

1

A K

Gedeon

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4 July 2017

G E Tiller

2

G E

Tiller

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4 July 2017

M Le Merrer

3

M

Le Merrer

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4 July 2017

S Heuertz

4

S

Heuertz

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4 July 2017

L Tranebjaerg

5

L

Tranebjaerg

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4 July 2017

D Chitayat

6

D

Chitayat

1 reference

4 July 2017

S Robertson

7

S

Robertson

1 reference

4 July 2017

I A Glass

8

I A

Glass

1 reference

4 July 2017

R Savarirayan

9

R

Savarirayan

1 reference

4 July 2017

W G Cole

10

W G

Cole

1 reference

4 July 2017

B G Kousseff

12

B G

Kousseff

1 reference

4 July 2017

H Ohashi

13

H

Ohashi

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4 July 2017

B Zabel

14

B

Zabel

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4 July 2017

J C Mulley

17

J C

Mulley

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4 July 2017

language of work or name

English

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publication date

8 May 2001

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American Journal of Human Genetics

4 July 2017

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4 July 2017

68

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4 July 2017

6

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4 July 2017

1386-1397

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Identification of the gene (SEDL) causing X-linked spondyloepiphyseal dysplasia tarda

4 July 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226125

Chromosomal basis of X chromosome inactivation: identification of a multigene domain in Xp11.21-p11.22 that escapes X inactivation

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226125

Linkage analysis of two Canadian families segregating for X linked spondyloepiphyseal dysplasia

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226125

RNA splice junctions of different classes of eukaryotes: sequence statistics and functional implications in gene expression

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226125

Gene structure and expression study of the SEDL gene for spondyloepiphyseal dysplasia tarda

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226125

Mutations in fibrillar collagens (types I, II, III, and XI), fibril-associated collagen (type IX), and network-forming collagen (type X) cause a spectrum of diseases of bone, cartilage, and blood vessels

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226125

Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226125

A recurrent RNA-splicing mutation in the SEDL gene causes X-linked spondyloepiphyseal dysplasia tarda

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226125

X chromosome-specific cDNA arrays: identification of genes that escape from X-inactivation and other applications

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226125

Collagens: building blocks at the end of the development line.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226125

A first-generation X-inactivation profile of the human X chromosome

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226125

Mutation rates in humans. II. Sporadic mutation-specific rates and rate of detrimental human mutations inferred from hemophilia B.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226125

X chromosome map at 75-kb STS resolution, revealing extremes of recombination and GC content

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226125

X linked spondyloepiphyseal dysplasia: a clinical, radiological, and molecular study of a large kindred

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226125

New X linked spondyloepimetaphyseal dysplasia: report on eight affected males in the same family

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226125

X-linked spondyloepiphyseal dysplasia tarda: clinical and linkage data

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226125

Complete cloning of the duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226125

Single base mutation in the type II procollagen gene (COL2A1) as a cause of primary osteoarthritis associated with a mild chondrodysplasia

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226125

From linked marker to gene

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226125

A new variety of spondyloepiphyseal dysplasia characterized by punctate corneal dystrophy and abnormal dermal collagen fibrils

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226125

Defects in RNA splicing and the consequence of shortened translational reading frames

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226125

The prevalence of skeletal dysplasias. An estimate of their minimum frequency and the number of patients requiring orthopaedic care.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226125

Spondylo-epimetaphyseal dysplasia: a new X-linked variant with mental retardation.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226125

X-linked recessive spondyloepiphyseal dysplasia tarda. Clinical and radiographic evolution in a 6-generation kindred and review of the literature.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226125

Three new point mutations in type II procollagen (COL2A1) and identification of a fourth family with the COL2A1 Arg519-->Cys base substitution using conformation sensitive gel electrophoresis.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226125

A five-base pair deletion in the sedlin gene causes spondyloepiphyseal dysplasia tarda in a six-generation Arkansas kindred

29 November 2018

1 reference

12 December 2020

Spondylo-epiphyseal dysplasia tarda: a report of four cases in two families

1 reference

12 December 2020

Spondyloepiphyseal dysplasia tarda with progressive arthropathy

1 reference

12 December 2020

Spondylo-epiphyseal dysplasia tarda. The X-linked variety in three brothers

1 reference

12 December 2020

Further studies of gene deletions that cause Duchenne and Becker muscular dystrophies

1 reference

12 December 2020

Spondyloepiphyseal dysplasia tarda: linkage with genetic markers from the distal short arm of the X chromosome

1 reference

12 December 2020

Human cartilage from late stage familial osteoarthritis transcribes type II collagen mRNA encoding a cysteine in position 519

1 reference

12 December 2020

The Gene for Spondyloepiphyseal Dysplasia (SEDL) Maps to Xp22 between DXS16 and DXS92

1 reference

12 December 2020

Genetic mapping of Xp22.12–p22.31, with a refined localization for spondyloepiphyseal dysplasia (SEDL)

1 reference

12 December 2020

Five families with arginine519-cysteine mutation in COL2A1: Evidence for three distinct founders

1 reference

12 December 2020

Mutations in fibrillar collagens (types I, II, III, and XI), fibril-associated collagen (type IX), and network-forming collagen (type X) cause a spectrum of diseases of bone, cartilage, and blood vessels

1 reference

Crossref

https://api.crossref.org/works/10.1086%2F320592

7 January 2021

inferred from DOI database lookup

Identifiers

DOI

10.1086/320592

1 reference

release_afbfhnfzyfg4ddyirkorau6pcm

4 July 2017

0 references

PMCID

1226125

1 reference

4 July 2017

1 reference