Detection of new paternal dystrophin gene mutations in isolated cases of dystrophinopathy in females. (Q35889152)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8198142%20AND%20SRC:MED&resulttype=core&format=json

27 October 2019

title

Detection of new paternal dystrophin gene mutations in isolated cases of dystrophinopathy in females (English)

1 reference

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27 October 2019

E Pegoraro

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27 October 2019

R N Schimke

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27 October 2019

K Arahata

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27 October 2019

Y Hayashi

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27 October 2019

H Stern

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27 October 2019

H Marks

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27 October 2019

M R Glasberg

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27 October 2019

J E Carroll

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27 October 2019

J W Taber

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27 October 2019

H B Wessel

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27 October 2019

language of work or name

English

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publication date

1 June 1994

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8198142%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Human Genetics

27 October 2019

published in

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27 October 2019

volume

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27 October 2019

issue

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27 October 2019

page(s)

989-1003

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Integrated study of 100 patients with Xp21 linked muscular dystrophy using clinical, genetic, immunochemical, and histopathological data. Part 2. Correlations within individual patients

27 October 2019

cites work

1 reference

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Exon structure of the human dystrophin gene

27 July 2018

1 reference

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X chromosome inactivation and the diagnosis of X linked disease in females

27 July 2018

1 reference

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Methylation of the hypoxanthine phosphoribosyltransferase locus on the human X chromosome: implications for X-chromosome inactivation

27 July 2018

1 reference

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Prediction of carrier status in Duchenne dystrophy by creatine kinase measurement.

27 July 2018

1 reference

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Muscular dystrophy in girls with X;autosome translocations

27 July 2018

1 reference

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

27 July 2018

1 reference

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

27 July 2018

1 reference

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A simple salting out procedure for extracting DNA from human nucleated cells

27 July 2018

1 reference

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Dystrophin: the protein product of the Duchenne muscular dystrophy locus

27 July 2018

1 reference

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Immunostaining of skeletal and cardiac muscle surface membrane with antibody against Duchenne muscular dystrophy peptide

27 July 2018

1 reference

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The complete sequence of dystrophin predicts a rod-shaped cytoskeletal protein

27 July 2018

1 reference

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Normal and dystrophin-deficient muscle fibers in carriers of the gene for Duchenne muscular dystrophy

27 July 2018

1 reference

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

27 July 2018

1 reference

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Carrier detection in X-linked severe combined immunodeficiency based on patterns of X chromosome inactivation

27 July 2018

1 reference

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Duchenne muscular dystrophy manifesting carriers

27 July 2018

1 reference

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Dystrophin diagnosis: comparison of dystrophin abnormalities by immunofluorescence and immunoblot analyses

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918178

Detailed analysis of the repeat domain of dystrophin reveals four potential hinge segments that may confer flexibility

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918178

Mosaic expression of dystrophin in carriers of canine X-linked muscular dystrophy

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918178

X-linked severe combined immunodeficiency. Diagnosis in males with sporadic severe combined immunodeficiency and clarification of clinical findings

27 July 2018

1 reference

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Skewed X inactivation in a female MZ twin results in Duchenne muscular dystrophy

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918178

Exploring the molecular basis for variability among patients with Becker muscular dystrophy: dystrophin gene and protein studies

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918178

Rapid detection of CA polymorphisms in cloned DNA: application to the 5' region of the dystrophin gene

27 July 2018

1 reference

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A polymorphic CACA repeat in the 3' untranslated region of dystrophin.

27 July 2018

1 reference

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Molecular analysis of X-autosome translocations in females with Duchenne muscular dystrophy

27 July 2018

1 reference

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Carrier detection and prenatal diagnosis in Duchenne and Becker muscular dystrophy families, using dinucleotide repeat polymorphisms

27 July 2018

1 reference

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Parental origin and germline mosaicism of deletions and duplications of the dystrophin gene: a European study.

27 July 2018

1 reference

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Maximum-likelihood analysis of human T-cell X chromosome inactivation patterns: normal women versus carriers of X-linked severe combined immunodeficiency

27 July 2018

1 reference

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Fluorescent multiplex linkage analysis and carrier detection for Duchenne/Becker muscular dystrophy

27 July 2018

1 reference

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X inactivation as a mechanism of selection against lethal alleles: further investigation of incontinentia pigmenti and X linked lymphoproliferative disease

27 July 2018

1 reference

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Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen-receptor gene correlates with X chromosome inactivation

27 July 2018

1 reference

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Variability in clinical, genetic and protein abnormalities in manifesting carriers of Duchenne and Becker muscular dystrophy.

27 July 2018

1 reference

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Discordance of muscular dystrophy in monozygotic female twins: Evidence supporting asymmetric splitting of the inner cell mass in a manifesting carrier of Duchenne dystrophy

24 September 2018

1 reference

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Dystrophinopathy in isolated cases of myopathy in females

14 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918178

Dystrophin distribution in heterozygote MDX mice

14 November 2018

1 reference

12 December 2020

Improved diagnosis of Becker muscular dystrophy by dystrophin testing

1 reference

12 December 2020

Methylation patterns at the hypervariable X-chromosome locus DXS255 (M27β): Correlation with X-inactivation status

1 reference

12 December 2020

Partial dystrophin deficiency in monozygous twin carriers of the Duchenne gene discordant for clinical myopathy

1 reference

12 December 2020

Carrier detection in Wiskott-Aldrich syndrome: combined use of M27 beta for X-inactivation studies and as a linked probe

1 reference

12 December 2020

Characterisation of dystrophin in carriers of Duchenne muscular dystrophy

1 reference

12 December 2020

Dystrophin deficiency in young girls with sporadic myopathy and normal karyotype

1 reference

12 December 2020

The frequency of patients with dystrophin abnormalities in a limb-girdle patient population

1 reference

12 December 2020

X inactivation and dystrophin studies in a t(X;12) female: evidence for biochemical normalization in Duchenne muscular dystrophy carriers

1 reference

12 December 2020

In situ hybridization shows direct evidence of skewed X inactivation in one of monozygotic twin females manifesting Duchenne muscular dystrophy

1 reference

12 December 2020

Manifesting carriers of Xp21 muscular dystrophy; lack of correlation between dystrophin expression and clinical weakness

1 reference

12 December 2020

Carrier detection of duchenne and becker muscular dystrophy using muscle dystrophin immunohistochemistry

1 reference

12 December 2020

The manifesting carrier in Duchenne muscular dystrophy

1 reference

12 December 2020

Clinically manifesting carriers in Duchenne muscular dystrophy

1 reference

12 December 2020

Clonal analysis using recombinant DNA probes from the X-chromosome

1 reference

12 December 2020

Use of X chromosome inactivation analysis to establish carrier status for X-linked severe combined immunodeficiency

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

Mosaic expression of dystrophin in symptomatic carriers of Duchenne's muscular dystrophy

1 reference

12 December 2020

Identifiers

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8198142%20AND%20SRC:MED&resulttype=core&format=json

27 October 2019

PubMed publication ID

8198142

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8198142%20AND%20SRC:MED&resulttype=core&format=json