(Q35197260)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2568091%20AND%20SRC:MED&resulttype=core&format=json

1 October 2019

title

Brother/sister pairs affected with early-onset, progressive muscular dystrophy: molecular studies reveal etiologic heterogeneity (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2568091%20AND%20SRC:MED&resulttype=core&format=json

progressive muscular dystrophy

1 October 2019

main subject

1 reference

Francke U

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2568091%20AND%20SRC:MED&resulttype=core&format=json

1 October 2019

Darras BT

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2568091%20AND%20SRC:MED&resulttype=core&format=json

1 October 2019

Hersh JH

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2568091%20AND%20SRC:MED&resulttype=core&format=json

1 October 2019

Berg BO

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2568091%20AND%20SRC:MED&resulttype=core&format=json

1 October 2019

Miller RG

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2568091%20AND%20SRC:MED&resulttype=core&format=json

1 October 2019

language of work or name

English

0 references

publication date

1 July 1989

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2568091%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Human Genetics

1 October 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2568091%20AND%20SRC:MED&resulttype=core&format=json

1 October 2019

volume

45

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2568091%20AND%20SRC:MED&resulttype=core&format=json

1 October 2019

page(s)

63-72

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2568091%20AND%20SRC:MED&resulttype=core&format=json

1 October 2019

issue

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2568091%20AND%20SRC:MED&resulttype=core&format=json

MUSCULAR DYSTROPHY (DUCHENNE) IN A GIRL WITH TURNER'S SYNDROME.

1 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=1683367

Clinical features and classification of the muscular dystrophies

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683367

Isolation of a genomic clone partially encoding human hypoxanthine phosphoribosyltransferase

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683367

Severe childhood muscular dystrophy affecting both sexes and frequent in Tunisia

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683367

Clinical investigation in duchenne dystrophy: 2. Determination of the ?power? of therapeutic trials based on the natural history

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683367

Unusual scarcity of restriction site polymorphism in the human thyroglobulin gene. A linkage study suggesting autosomal dominance of a defective thyroglobulin allele

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683367

Duchenne-like muscular dystrophy in two sisters with normal karyotypes: evidence for autosomal recessive inheritance.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683367

Complete cloning of the duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683367

Deletions of fetal and adult muscle cDNA in Duchenne and Becker muscular dystrophy patients

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683367

Dystrophin: the protein product of the Duchenne muscular dystrophy locus

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683367

Immunocytochemical study of dystrophin in muscle cultures from patients with Duchenne muscular dystrophy and unaffected control patients

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683367

Duchenne muscular dystrophy: deficiency of dystrophin at the muscle cell surface

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683367

Active X chromosome DNA is unmethylated at eight CCGG sites clustered in a guanine-plus-cytosine-rich island at the 5' end of the gene for phosphoglycerate kinase

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683367

Use of restriction fragment length polymorphisms to determine the clonal origin of human tumors

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683367

Intragenic deletions in 21 Duchenne muscular dystrophy (DMD)/Becker muscular dystrophy (BMD) families studied with the dystrophin cDNA: location of breakpoints on HindIII and BglII exon-containing fragment maps, meiotic and mitotic origin of the mut

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683367

Long-range genomic map of the Duchenne muscular dystrophy (DMD) gene: isolation and use of J66 (DXS268), a distal intragenic marker

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683367

A partial deletion of the muscular dystrophy gene transmitted twice by an unaffected male

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683367

Familial inheritance of a DXS164 deletion mutation from a heterozygous female

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683367

Carrier detection in X-linked agammaglobulinemia by analysis of X-chromosome inactivation

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683367

Severe autosomal recessive muscular dystrophy in an extended Sudanese kindred.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683367

Limb-girdle muscular dystrophy: clinical manifestations and detection of preclinical disease

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683367

Germline mosaicism and Duchenne muscular dystrophy mutations

15 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683367

Four cases of Duchenne-type muscular dystrophy in girls

15 November 2018

1 reference

12 December 2020

Autosomal recessive muscular dystrophy in Manitoba Hutterites*

1 reference

12 December 2020

Failure of inactivation of Duchenne dystrophy X-chromosome in one of female identical twins

1 reference

12 December 2020

Manifesting carrier of X-linked Duchenne muscular dystrophy

1 reference

12 December 2020

Progressive muscle disease in a young woman with family history of Duchenne's muscular dystrophy

1 reference

12 December 2020

Severe muscular dystrophy in girls

1 reference

12 December 2020

Duchenne muscular dystrophy in a 46 XY female

1 reference

12 December 2020

Localization and cloning of Xp21 deletion breakpoints involved in muscular dystrophy

1 reference

12 December 2020

Prenatal diagnosis and detection of carriers with DNA probes in Duchenne's muscular dystrophy

1 reference

12 December 2020

Molecular heterogeneity of translocations associated with muscular dystrophy

1 reference

12 December 2020

Direct detection of more than 50% of the Duchenne muscular dystrophy mutations by field inversion gels

1 reference

12 December 2020

Genetic heterogeneity in Duchenne dystrophy

1 reference

12 December 2020

Germinal mosaicism in Duchenne muscular dystrophy

1 reference

12 December 2020

A grandpaternally derived de novo deletion within Xp21 initially presenting in carrier females diagnosed as Kugelberg-Welander syndrome

1 reference

12 December 2020

Characterization of dystrophin in muscle-biopsy specimens from patients with Duchenne's or Becker's muscular dystrophy

1 reference

12 December 2020

Direct method for prenatal diagnosis and carrier detection in Duchenne/Becker muscular dystrophy using the entire dystrophin cDNA

1 reference

12 December 2020

Further studies of gene deletions that cause Duchenne and Becker muscular dystrophies

1 reference

12 December 2020

Progressive muscular dystrophy: autosomal recessive type

1 reference

12 December 2020

Muscular dystrophy in young girls

1 reference

12 December 2020

Identifiers

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2568091%20AND%20SRC:MED&resulttype=core&format=json

1 October 2019

1 reference