(Q72387817)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8168835%20AND%20SRC:MED&resulttype=core&format=json

26 October 2019

title

Skewed inactivation of an X chromosome deleted at the dystrophin gene in an asymptomatic mother and her affected daughter (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8168835%20AND%20SRC:MED&resulttype=core&format=json

26 October 2019

author name string

F Tihy

1

1 reference

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26 October 2019

N Vogt

2

1 reference

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26 October 2019

D Recan

3

1 reference

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26 October 2019

B Malfoy

4

1 reference

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26 October 2019

F Leturcq

5

1 reference

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26 October 2019

M Coquet

6

1 reference

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26 October 2019

F Serville

7

1 reference

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26 October 2019

D Fontan

8

1 reference

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26 October 2019

J M Guillard

9

1 reference

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26 October 2019

J C Kaplan

10

1 reference

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26 October 2019

publication date

1 May 1994

1 reference

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26 October 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8168835%20AND%20SRC:MED&resulttype=core&format=json

26 October 2019

volume

93

1 reference

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26 October 2019

issue

5

1 reference

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26 October 2019

page(s)

563-567

1 reference

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https://scigraph.springernature.com/pub.10.1007/bf00202824

26 October 2019

exact match

0 references

cites work

Dystrophin in skeletal muscle. I. Western blot analysis using a monoclonal antibody

1 reference

12 December 2020

Mapping of X chromosome translocation breakpoints in females with Duchenne muscular dystrophy with respect to exons of the dystrophin gene

1 reference

12 December 2020

Immunoelectron microscopic localization of dystrophin in myofibres

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Molecular heterogeneity of translocations associated with muscular dystrophy

1 reference

12 December 2020

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

1 reference

12 December 2020

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

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

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

1 reference

12 December 2020

Duchenne muscular dystrophy. Genetic aspects, carrier detection and antenatal diagnosis

1 reference

12 December 2020

Increased FISH efficiency using APC probes generated by direct incorporation of labeled nucleotides by PCR.

1 reference

12 December 2020

Deletion screening of the Duchenne muscular dystrophy locus via multiplex DNA amplification

1 reference

12 December 2020

Cloning of the breakpoint of an X;21 translocation associated with Duchenne muscular dystrophy.

1 reference

12 December 2020

Monozygotic female twin carriers discordant for the clinical manifestations of Duchenne muscular dystrophy

1 reference

12 December 2020

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

1 reference

12 December 2020

Differential methylation of the hypervariable locus DXS255 on active and inactive X chromosomes correlates with the expression of a human X-linked gene.

1 reference

12 December 2020

High resolution deletion breakpoint mapping in the DMD gene by whole cosmid hybridization.

1 reference

12 December 2020

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

1 reference

12 December 2020

Specific cloning of DNA fragments absent from the DNA of a male patient with an X chromosome deletion

1 reference

12 December 2020

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

1 reference

12 December 2020

The unlabeled antibody enzyme method of immunohistochemistry: preparation and properties of soluble antigen-antibody complex (horseradish peroxidase-antihorseradish peroxidase) and its use in identification of spirochetes

1 reference

12 December 2020

Dystrophin deficiency in young girls with sporadic myopathy and normal karyotype

1 reference

12 December 2020

Investigation of a female manifesting Becker muscular dystrophy

1 reference

12 December 2020

The clinical consequences of X-chromosome inactivation: Duchenne muscular dystrophy in one of monozygotic twins

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

A symptomatic female patient with Duchenne muscular dystrophy diagnosed by dystrophin-staining: a case report

1 reference

12 December 2020

Duchenne muscular dystrophy in one of monozygotic twin girls

1 reference

12 December 2020

A simple method for simultaneous R- or G-banding and fluorescence in situ hybridization of small single-copy genes

1 reference

12 December 2020

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

1 reference

12 December 2020

Detection of 98% of DMD/BMD gene deletions by polymerase chain reaction

1 reference

12 December 2020

Identifiers

DOI

10.1007/BF00202824

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8168835%20AND%20SRC:MED&resulttype=core&format=json

26 October 2019

1 reference