X linked spondyloepiphyseal dysplasia: a clinical, radiological, and molecular study of a large kindred (Q33677883)

28 July 2017

title

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

1 reference

28 July 2017

J J MacKenzie

1

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28 July 2017

J Fitzpatrick

2

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28 July 2017

P Babyn

3

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28 July 2017

G B Ferrero

4

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28 July 2017

A Ballabio

5

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28 July 2017

G Billingsley

6

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28 July 2017

D E Bulman

7

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28 July 2017

P Strasberg

8

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28 July 2017

P N Ray

9

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28 July 2017

T Costa

10

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28 July 2017

language of work or name

English

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publication date

1 October 1996

1 reference

Journal of Medical Genetics

28 July 2017

published in

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28 July 2017

volume

33

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28 July 2017

issue

10

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28 July 2017

page(s)

823-828

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Characterisation of a highly polymorphic microsatellite at the DXS207 locus: confirmation of very close linkage to the retinoschisis disease gene

28 July 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050760

A high resolution deletion map of human chromosome Xp22.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050760

Faster sequential genetic linkage computations

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050760

The 1993-94 Généthon human genetic linkage map

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050760

Cloning of a representative genomic library of the human X chromosome after sorting by flow cytometry

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050760

A strategy to reveal high-frequency RFLPs along the human X chromosome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050760

X-linked spondyloepiphyseal dysplasia tarda: clinical and linkage data

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050760

Minor Xp21 chromosome deletion in a male associated with expression of Duchenne muscular dystrophy, chronic granulomatous disease, retinitis pigmentosa, and McLeod syndrome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050760

Multilocus linkage analysis in humans: detection of linkage and estimation of recombination

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050760

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050760

Localization of DNA sequences in region Xp21 of the human X chromosome: search for molecular markers close to the Duchenne muscular dystrophy locus.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050760

Detection of novel genetic markers by mismatch analysis

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050760

Avoiding recomputation in linkage analysis.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050760

Spondyloepiphysial dysplasia tarda. Four cases in childhood and adolescence, and some considerations regarding platyspondyly

30 October 2018

1 reference

12 December 2020

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

1 reference

12 December 2020

Linkage studies in a family with X-linked recessive ichthyosis employing a cloned DNA sequence from the distal short arm of the X chromosome

1 reference

12 December 2020

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

1 reference

12 December 2020

Genetic linkage study between the loci for Duchenne and Becker muscular dystrophy and nine X-chromosomal DNA markers

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

Genetic mapping of 12 marker loci in the Xp22.3-p21.2 region

1 reference

12 December 2020

Spondyloepiphyseal dysplasia tarda simulating juvenile arthritis: clinical and molecular genetic observations

1 reference

12 December 2020

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

1 reference

12 December 2020

Dinucleotide repeat polymorphisms at the DXS85, DXS16 and DXS43 loci

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

An integrated physical and genetic map of a 35 Mb region on chromosome Xp22.3–Xp21.3

1 reference

12 December 2020

1 reference

12 December 2020

SPONDYLOEPIPHYSIAL DYSPLASIA TARDA. HEREDITARY CHONDRODYSPLASIA WITH CHARACTERISTIC VERTEBRAL CONFIGURATION IN THE ADULT

1 reference

12 December 2020

An unusual form of familial osteodystrophy

1 reference

12 December 2020

Identifiers

DOI

10.1136/JMG.33.10.823

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28 July 2017

1 reference

28 July 2017

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