Clinical and genetic characterization of manifesting carriers of DMD mutations (Q34151973)

31 July 2017

Clinical and genetic characterization of manifesting carriers of DMD mutations (English)

1 reference

31 July 2017

Payam Soltanzadeh

1

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Anne Connolly

Anne M Connolly

9

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Kevin M. Flanigan

Kevin M Flanigan

25

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Katherine Mathews

Katherine D Mathews

15

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Kathryn J Swoboda

6

Kathryn J Swoboda

1 reference

31 July 2017

Michael J Friez

2

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31 July 2017

Diane Dunn

3

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31 July 2017

Andrew von Niederhausern

4

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31 July 2017

Olga L Gurvich

5

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31 July 2017

Jacinda B Sampson

7

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31 July 2017

Alan Pestronk

8

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31 July 2017

Julaine M Florence

10

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31 July 2017

Richard S Finkel

11

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31 July 2017

Carsten G Bönnemann

12

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31 July 2017

Livija Medne

13

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31 July 2017

Jerry R Mendell

14

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31 July 2017

Brenda L Wong

16

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31 July 2017

Michael D Sussman

17

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31 July 2017

Jonathan Zonana

18

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31 July 2017

Karen Kovak

19

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31 July 2017

Sidney M Gospe

20

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31 July 2017

Eduard Gappmaier

21

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31 July 2017

Laura E Taylor

22

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31 July 2017

Michael T Howard

23

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31 July 2017

Robert B Weiss

24

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31 July 2017

13 July 2010

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31 July 2017

Neuromuscular Disorders

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31 July 2017

20

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31 July 2017

8

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31 July 2017

499-504

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Comparison of X-chromosome inactivation patterns in multiple tissues from human females

31 July 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2944769

No evidence that skewing of X chromosome inactivation patterns is transmitted to offspring in humans

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2944769

Measurement of the clinical utility of a combined mutation detection protocol in carriers of Duchenne and Becker muscular dystrophy

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2944769

X chromosome-inactivation patterns of 1,005 phenotypically unaffected females

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2944769

Rapid direct sequence analysis of the dystrophin gene

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2944769

Skewed X-chromosome inactivation is a common feature of X-linked mental retardation disorders

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2944769

A promoter mutation in the XIST gene in two unrelated families with skewed X-chromosome inactivation

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2944769

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2944769

A carrier of Duchenne muscular dystrophy with dilated cardiomyopathy but no skeletal muscle symptom

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2944769

A survey of manifesting carriers of Duchenne and Becker muscular dystrophy in Wales

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2944769

Direct detection of dystrophin gene rearrangements by analysis of dystrophin mRNA in peripheral blood lymphocytes

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2944769

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2944769

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2944769

Muscle X-inactivation patterns and dystrophin expression in Duchenne muscular dystrophy carriers.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2944769

Dystrophinopathy in isolated cases of myopathy in females

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2944769

Signs and symptoms of Duchenne muscular dystrophy and Becker muscular dystrophy among carriers in The Netherlands: a cohort study

28 October 2018

1 reference

12 December 2020

Cardiac involvement in carriers of Duchenne and Becker muscular dystrophy

1 reference

12 December 2020

Detection of point mutation in dystrophin gene reveals somatic and germline mosaicism in the mother of a patient with Duchenne muscular dystrophy

1 reference

12 December 2020

The manifesting carrier in Duchenne muscular dystrophy

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Variable dystrophin expression in different muscles of a Duchenne muscular dystrophy carrier

1 reference

12 December 2020

Cardiomyopathy may be the only clinical manifestation in female carriers of Duchenne muscular dystrophy

1 reference

12 December 2020

X-chromosome methylation in manifesting and healthy carriers of dystrophinopathies: concordance of activation ratios among first degree female relatives and skewed inactivation as cause of the affected phenotypes

1 reference

12 December 2020

Improved molecular diagnosis of dystrophinopathies in an unselected clinical cohort

1 reference

12 December 2020

Dystrophin analysis in carriers of Duchenne and Becker muscular dystrophy

1 reference

12 December 2020

Increased skewing of X chromosome inactivation in Rett syndrome patients and their mothers

1 reference

12 December 2020

10.1016/J.NMD.2010.05.010

Identifiers

DOI

1 reference

31 July 2017

1 reference

31 July 2017

1 reference