Expansion of an unstable DNA region and phenotypic variation in myotonic dystrophy (Q55670526)

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scientific article published on February 6, 1992

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Language	Label	Description	Also known as
English	Expansion of an unstable DNA region and phenotypic variation in myotonic dystrophy	scientific article published on February 6, 1992

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instance of

scholarly article

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title

Expansion of an unstable DNA region and phenotypic variation in myotonic dystrophy (English)

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main subject

myotonic dystrophy

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based on heuristic

inferred from title

restriction fragment length polymorphism

1 reference

stated in

Europe PubMed Central

PubMed publication ID

1346923

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1346923

retrieved

16 September 2022

author name string

H G Harley

series ordinal

1

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J D Brook

series ordinal

2

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S A Rundle

series ordinal

3

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A J Buckler

series ordinal

6

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P S Harper

series ordinal

7

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D E Housman

series ordinal

8

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D J Shaw

series ordinal

9

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Harley HG

series ordinal

1

1 reference

stated in

Europe PubMed Central

PubMed publication ID

1346923

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1346923

retrieved

16 September 2022

Brook JD

series ordinal

2

1 reference

stated in

Europe PubMed Central

PubMed publication ID

1346923

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1346923

retrieved

16 September 2022

Rundle SA

series ordinal

3

1 reference

stated in

Europe PubMed Central

PubMed publication ID

1346923

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1346923

retrieved

16 September 2022

Crow S

series ordinal

4

1 reference

stated in

Europe PubMed Central

PubMed publication ID

1346923

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1346923

retrieved

16 September 2022

Reardon W

series ordinal

5

1 reference

stated in

Europe PubMed Central

PubMed publication ID

1346923

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1346923

retrieved

16 September 2022

Buckler AJ

series ordinal

6

1 reference

stated in

Europe PubMed Central

PubMed publication ID

1346923

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1346923

retrieved

16 September 2022

Harper PS

series ordinal

7

1 reference

stated in

Europe PubMed Central

PubMed publication ID

1346923

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1346923

retrieved

16 September 2022

Housman DE

series ordinal

8

1 reference

stated in

Europe PubMed Central

PubMed publication ID

1346923

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1346923

retrieved

16 September 2022

Shaw DJ

series ordinal

9

1 reference

stated in

Europe PubMed Central

PubMed publication ID

1346923

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1346923

retrieved

16 September 2022

language of work or name

English

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publication date

6 February 1992

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published in

Nature

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volume

355

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issue

6360

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page(s)

545-6

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cites work

Early-onset dystrophia myotonica. Evidence supporting a maternal environmental factor

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stated in

Crossref

reference URL

https://api.crossref.org/works/10.1038%2F355545A0

retrieved

7 January 2021

based on heuristic

inferred from DOI database lookup

The problem of anticipation in pedigrees of dystrophia myotonica

1 reference

stated in

Crossref

reference URL

https://api.crossref.org/works/10.1038%2F355545A0

retrieved

7 January 2021

based on heuristic

inferred from DOI database lookup

Anticipation in myotonic dystrophy: fact or fiction?

1 reference

stated in

Crossref

reference URL

https://api.crossref.org/works/10.1038%2F355545A0

retrieved

7 January 2021

based on heuristic

inferred from DOI database lookup

Isolation of candidate cDNAs for portions of the Duchenne muscular dystrophy gene

1 reference

stated in

Crossref

reference URL

https://api.crossref.org/works/10.1038%2F355545A0

retrieved

7 January 2021

based on heuristic

inferred from DOI database lookup

Type 1 neurofibromatosis gene: identification of a large transcript disrupted in three NF1 patients

1 reference

stated in

Crossref

reference URL

https://api.crossref.org/works/10.1038%2F355545A0

retrieved

7 January 2021

based on heuristic

inferred from DOI database lookup

A major segment of the neurofibromatosis type 1 gene: cDNA sequence, genomic structure, and point mutations

1 reference

stated in

Crossref

reference URL

https://api.crossref.org/works/10.1038%2F355545A0

retrieved

7 January 2021

based on heuristic

inferred from DOI database lookup

Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome

1 reference

stated in

Crossref

reference URL

https://api.crossref.org/works/10.1038%2F355545A0

retrieved

7 January 2021

based on heuristic

inferred from DOI database lookup

Instability of a 550-base pair DNA segment and abnormal methylation in fragile X syndrome

1 reference

stated in

Crossref

reference URL

https://api.crossref.org/works/10.1038%2F355545A0

retrieved

7 January 2021

based on heuristic

inferred from DOI database lookup

Fragile X genotype characterized by an unstable region of DNA.

1 reference

stated in

Crossref

reference URL

https://api.crossref.org/works/10.1038%2F355545A0

retrieved

7 January 2021

based on heuristic

inferred from DOI database lookup

Physical and genetic mapping of a novel chromosome 19 ERCC1 marker showing close linkage with myotonic dystrophy

1 reference

stated in

Crossref

reference URL

https://api.crossref.org/works/10.1038%2F355545A0

retrieved

7 January 2021

based on heuristic

inferred from DOI database lookup

Identification of variable simple sequence motifs in 19q13.2-qter: Markers for the myotonic dystrophy locus

1 reference

stated in

Crossref

reference URL

https://api.crossref.org/works/10.1038%2F355545A0

retrieved

7 January 2021

based on heuristic

inferred from DOI database lookup

Localisation of the myotonic dystrophy locus to 19q13.2-19q13.3 and its relationship to twelve polymorphic loci on 19q

1 reference

stated in

Crossref

reference URL

https://api.crossref.org/works/10.1038%2F355545A0

retrieved

7 January 2021

based on heuristic

inferred from DOI database lookup

Variation of the CGG repeat at the fragile X site results in genetic instability: Resolution of the Sherman paradox

1 reference

stated in

Crossref

reference URL

https://api.crossref.org/works/10.1038%2F355545A0

retrieved

7 January 2021

based on heuristic

inferred from DOI database lookup

Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy

1 reference

stated in

Crossref

reference URL

https://api.crossref.org/works/10.1038%2F355545A0

retrieved

7 January 2021

based on heuristic

inferred from DOI database lookup

Hereditary unstable DNA: a new explanation for some old genetic questions?

1 reference

stated in

Crossref

reference URL

https://api.crossref.org/works/10.1038%2F355545A0

retrieved

7 January 2021

based on heuristic

inferred from DOI database lookup

Detection of an unstable fragment of DNA specific to individuals with myotonic dystrophy

1 reference

stated in

Crossref

reference URL

https://api.crossref.org/works/10.1038%2F355545A0

retrieved

7 January 2021

based on heuristic

inferred from DOI database lookup

Fragile X syndrome: genetic localisation by linkage mapping of two microsatellite repeats FRAXAC1 and FRAXAC2 which immediately flank the fragile site

1 reference

stated in

Crossref

reference URL

https://api.crossref.org/works/10.1038%2F355545A0

retrieved

7 January 2021

based on heuristic

inferred from DOI database lookup

Identifiers

DOI

10.1038/355545A0

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Dimensions Publication ID

1030097475

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PubMed publication ID

1346923

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