(Q34985527)

5 August 2017

Congenital myotonic dystrophy in Britain. II. Genetic basis (English)

1 reference

5 August 2017

0 references

1 reference

P. S. Harper

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1167063

28 August 2022

language of work or name

English

0 references

publication date

1 July 1975

1 reference

full work available at URL

5 August 2017

https://europepmc.org/articles/PMC1544592

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1167063

https://europepmc.org/articles/PMC1544592?pdf=render

28 August 2022

file format

Portable Document Format

online access status

open access

content deliverer

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1167063

Archives of Disease in Childhood

28 August 2022

published in

1 reference

5 August 2017

50

1 reference

5 August 2017

514-521

1 reference

5 August 2017

7

1 reference

Early onset myotonic dystrophy. Clinical and laboratory findings in five families and a review of the literature

5 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1544592

Variants of myotonic dystrophy in pre-adolescent life (the syndrome of myotonic dysembryoplasia).

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1544592

Confirmation of linkage of the loci for myotonic dystrophy and ABH secretion

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1544592

Genetic heterogeneity for dystrophia myotonica

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1544592

Genetic linkage confirmed between the locus for myotonic dystrophy and the ABH-secretion and Lutheran blood group loci

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1544592

[A case of myotonic dystrophy in a mentally retarded girl]

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1544592

Histidinaemic Mutant in the Mouse

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1544592

Preliminary Characterization of Two Species of dsRNA in Yeast and their Relationship to the “Killer” Character

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1544592

Histidinaemia in mouse and man

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1544592

Maternal and lateral transmission of scrapie in sheep

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1544592

Myotonic dystrophy: its occurrence in childhood.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1544592

Early onset of myotonic dystrophy in infants.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1544592

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1544592

MYOTONIC DYSTROPHY IN INFANCY AND CHILDHOOD

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1544592

DYSTROPHIA MYOTONICA PRESENTING AS CONGENITAL FACIAL DIPLEGIA

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1544592

Myotonic dystrophy: A neglectedcause of mental retardation

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1544592

Myotonic dystrophy in the neonate

26 October 2018

1 reference

12 December 2020

Congenital dystrophia myotonica

1 reference

12 December 2020

Pre-symptomatic detection and genetic counselling in myotonic dystrophy

1 reference

12 December 2020

Steinert's disease (myotonic myopathy) in early childhood

1 reference

12 December 2020

Dystrophia myotonica in childhood

1 reference

12 December 2020

Infantile myotonic dystrophy. Histochemical and electron microscopic features in skeletal muscle

1 reference

12 December 2020

Detection of heterozygotes for myotonic dystrophy

1 reference

12 December 2020

[Neonatal forms of Steinert's mytonic dystrophy]

1 reference

12 December 2020

Neonatal and early infantile forms of myotonic dystrophia (Steinert's disease)

1 reference

12 December 2020

[Neonatal Steinert's disease. A case]

1 reference

12 December 2020

Host-genotype and agent effects in scrapie incubation: Change in allelic interaction with different strains of agent

1 reference

12 December 2020

Identifiers

DOI

10.1136/ADC.50.7.514

1 reference

5 August 2017

1 reference

5 August 2017

1 reference