(Q55670526)

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

16 September 2022

author name string

H G Harley

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J D Brook

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S A Rundle

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A J Buckler

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P S Harper

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D E Housman

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D J Shaw

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Harley HG

1 reference

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

16 September 2022

Brook JD

1 reference

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16 September 2022

Rundle SA

1 reference

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16 September 2022

Crow S

1 reference

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16 September 2022

Reardon W

1 reference

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16 September 2022

Buckler AJ

1 reference

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16 September 2022

Harper PS

1 reference

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16 September 2022

Housman DE

1 reference

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16 September 2022

Shaw DJ

1 reference

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

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

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

1 reference

7 January 2021

The problem of anticipation in pedigrees of dystrophia myotonica

1 reference

7 January 2021

Anticipation in myotonic dystrophy: fact or fiction?

1 reference

7 January 2021

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

1 reference

7 January 2021

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

1 reference

7 January 2021

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

1 reference

7 January 2021

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

7 January 2021

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

1 reference

7 January 2021

Fragile X genotype characterized by an unstable region of DNA.

1 reference

7 January 2021

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

1 reference

7 January 2021

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

1 reference

7 January 2021

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

1 reference

7 January 2021

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

1 reference

7 January 2021

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

1 reference

7 January 2021

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

1 reference

7 January 2021

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

1 reference

7 January 2021

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

1 reference

7 January 2021

Dimensions Publication ID

Identifiers

DOI

10.1038/355545A0

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1030097475

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