(Q30443071)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:6842530%20AND%20SRC:MED&resulttype=core&format=json

20 October 2019

title

The genetic status of mothers of isolated cases of Duchenne muscular dystrophy (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:6842530%20AND%20SRC:MED&resulttype=core&format=json

Duchenne muscular dystrophy

20 October 2019

main subject

0 references

author name string

R J Lane

series ordinal

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:6842530%20AND%20SRC:MED&resulttype=core&format=json

20 October 2019

M Robinow

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:6842530%20AND%20SRC:MED&resulttype=core&format=json

20 October 2019

A D Roses

series ordinal

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:6842530%20AND%20SRC:MED&resulttype=core&format=json

20 October 2019

language of work or name

English

0 references

publication date

1 February 1983

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:6842530%20AND%20SRC:MED&resulttype=core&format=json

Journal of Medical Genetics

20 October 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:6842530%20AND%20SRC:MED&resulttype=core&format=json

20 October 2019

volume

20

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:6842530%20AND%20SRC:MED&resulttype=core&format=json

20 October 2019

issue

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:6842530%20AND%20SRC:MED&resulttype=core&format=json

20 October 2019

page(s)

1-11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:6842530%20AND%20SRC:MED&resulttype=core&format=json

Studies in disorders of muscle. V. The inheritance of childhood progressive muscular dystrophy in 33 kindreds.

20 October 2019

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1048978

Formal genetics of muscular dystrophy

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1048978

Muscular dystrophy in Northern Ireland. IV. Some additional data

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1048978

Capping of lymphocytes for carrier detection in Duchenne muscular dystrophy: technical problems and a review of the literature

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1048978

Effect of reproductive compensation and the desire to have male offspring on the incidence of a sex-linked lethal disease.

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1048978

Duchenne muscular dystrophy: data from family studies

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1048978

No sex difference in mutations rates of Duchenne muscular dystrophy.

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1048978

Incidence of Duchenne muscular dystrophy in New South Wales and Australian Capital Territory

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1048978

Mutation rate in Duchenne type of muscular dystrophy

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1048978

Genetic-epidemiological studies in progressive muscular dystrophy

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1048978

Genetic counselling in lethal X-linked disorders

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1048978

The occurrence of new mutants in the X-linked recessive Lesch-Nyhan disease

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1048978

Newborn screening for Duchenne muscular dystrophy

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1048978

Creatine-phosphokinase (CPK) activity in relatives of patients with X-linked muscular dystrophies: a Brazilian study

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1048978

A two-locus selection hypothesis for Duchenne muscular dystrophy

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1048978

A probable sex difference in some mutation rates.

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1048978

Use of normal daughters' and sisters' creatine kinase levels in estimating heterozygosity in Duchenne muscular dystrophy

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1048978

Calculation of genetic risks in Duchenne muscular dystrophy by geneticists in the United Kingdom

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1048978

Effects of reproductive compensation and genetic drift on X-linked lethals

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1048978

Pedigree testing in duchenne muscular dystrophy

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1048978

Genetic control of human plasma creatine phosphokinase activity

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1048978

Carrier detection in Duchenne muscular dystrophy. Evidence from a study of obligatory carriers and mothers of isolated cases

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1048978

Creatine phosphokinase levels in the newborn and their use in screening for Duchenne muscular dystrophy

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1048978

Genotype assignment (carrier detection) in the haemophilias

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1048978

Systemic Membrane Defect in the Proximal Muscular Dystrophies

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1048978

The sporadic case of haemophilia A.

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1048978

Muscular dystrophy in childhood; the genetic aspect; a field study in the Leeds region of clinical types and their inheritance.

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1048978

Carrier testing in families of isolated cases of duchenne muscular dystrophy. Creatine kinase activities in female relatives of mothers with normal CK activity

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1048978

Identification of abnormally [32P]-phosphorylated cyanogen bromide cleavage product of erythrocyte membrane spectrin in Duchenne muscular dystrophy.

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1048978

Evaluation and detection of Duchenne's and Becker's muscular dystrophy carriers by manual muscle testing

26 November 2018

1 reference

12 December 2020

Sporadic occurrence of Duchenne muscular dystrophy: evidence for new mutation

1 reference

12 December 2020

PROGRESSIVE MUSCULAR DYSTROPHY. VI. INCIDENCE, CLINICAL ASPECTS AND GENETICS OF THE DUCHENNE TYPE

1 reference

12 December 2020

The incidence of Duchenne muscular dystrophy in the South East of Scotland

1 reference

12 December 2020

Carrier detection in X-linked Duchenne type muscular dystrophy. A pluridimensional investigation

1 reference

12 December 2020

An assessment of the creatine kinase test in the detection of carriers of Duchenne muscular dystrophy

1 reference

12 December 2020

Screening for Duchenne muscular dystrophy

1 reference

12 December 2020

Spontaneous mutation in man

1 reference

12 December 2020

On the inheritance of muscular dystrophy; with a note on the blood groups, and a note on colour vision and linkage studies

1 reference

12 December 2020

Pseudohypertrophic Muscular Dystrophy of Childhood: An epidemiological survey in Victoria

1 reference

12 December 2020

Carrier Detection in Duchenne Muscular Dystrophy

1 reference

12 December 2020

Muscular dystrophy in Northern Ireland, I. An account of the condition in fifty-one families

1 reference

12 December 2020

Increased [32P]‐phosphorylation of tryptic peptides of erythrocyte spectrin in duchenne muscular dystrophy

1 reference

12 December 2020

The sex ratio of mutation rates of sex-linked recessive genes in man with particular reference to Duchenne type muscular dystrophy

1 reference

12 December 2020

Mutation in the sex-linked recessive type of muscular dystrophy; a possible sex difference

1 reference

12 December 2020

Electrocardiographic abnormalities in carriers of Duchenne muscular dystrophy

1 reference

12 December 2020

Frequency of new mutants among boys with Duchenne muscular dystrophy

1 reference

12 December 2020

Identifiers

DOI

10.1136/JMG.20.1.1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:6842530%20AND%20SRC:MED&resulttype=core&format=json

20 October 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:6842530%20AND%20SRC:MED&resulttype=core&format=json

20 October 2019

PubMed publication ID

6842530

1 reference