(Q37043820)

17 August 2017

Genetic and clinical specificity of 26 symptomatic carriers for dystrophinopathies at pediatric age (English)

1 reference

Erratum: Genetic and clinical specificity of 26 symptomatic carriers for dystrophinopathies at pediatric age

17 August 2017

corrigendum / erratum

0 references

Rabah Ben Yaou

20

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Denys Chaigne

19

object named as

Denys Chaigne

1 reference

17 August 2017

Martine Raynaud

4

0 references

Annick Toutain

2

object named as

Annick Toutain

1 reference

17 August 2017

Sandra Mercier

1

1 reference

17 August 2017

Aurélie Toussaint

3

1 reference

17 August 2017

Claire de Barace

5

1 reference

17 August 2017

Pascale Marcorelles

6

1 reference

17 August 2017

Laurent Pasquier

7

1 reference

17 August 2017

Martine Blayau

8

1 reference

17 August 2017

Caroline Espil

9

1 reference

17 August 2017

Philippe Parent

10

1 reference

17 August 2017

Hubert Journel

11

1 reference

17 August 2017

Leila Lazaro

12

1 reference

17 August 2017

Jon Andoni Urtizberea

13

1 reference

17 August 2017

Alexandre Moerman

14

1 reference

17 August 2017

Laurence Faivre

15

1 reference

17 August 2017

Bruno Eymard

16

1 reference

17 August 2017

Kim Maincent

17

1 reference

17 August 2017

Romain Gherardi

18

1 reference

17 August 2017

France Leturcq

21

1 reference

17 August 2017

Jamel Chelly

22

1 reference

17 August 2017

Isabelle Desguerre

23

1 reference

17 August 2017

language of work or name

English

0 references

publication date

9 January 2013

1 reference

European Journal of Human Genetics

17 August 2017

1 reference

17 August 2017

21

1 reference

17 August 2017

8

1 reference

17 August 2017

855-863

1 reference

https://scigraph.springernature.com/pub.10.1038/ejhg.2012.269

17 August 2017

0 references

cites work

SPP1 genotype is a determinant of disease severity in Duchenne muscular dystrophy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3722679

Three cases of manifesting female carriers in patients with Duchenne muscular dystrophy

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3722679

Clinical and genetic characterization of manifesting carriers of DMD mutations

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3722679

Dystrophin gene mutation location and the risk of cognitive impairment in Duchenne muscular dystrophy

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3722679

Clinical heterogeneity of duchenne muscular dystrophy (DMD): definition of sub-phenotypes and predictive criteria by long-term follow-up

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3722679

The epidemiology of mental retardation: challenges and opportunities in the new millennium

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3722679

Comprehensive detection of genomic duplications and deletions in the DMD gene, by use of multiplex amplifiable probe hybridization

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3722679

Cell nonautonomy of C. elegans daf-2 function in the regulation of diapause and life span

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3722679

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3722679

Additional case of female monozygotic twins discordant for the clinical manifestations of Duchenne muscular dystrophy due to opposite X-chromosome inactivation

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3722679

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3722679

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3722679

Symptomatic dystrophinopathies in female children.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3722679

Analysis of Dp71 contribution in the severity of mental retardation through comparison of Duchenne and Becker patients differing by mutation consequences on Dp71 expression

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3722679

Genotype-phenotype analysis in 2,405 patients with a dystrophinopathy using the UMD-DMD database: a model of nationwide knowledgebase.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3722679

Dystrophin gene analysis in Hungarian Duchenne/Becker muscular dystrophy families - detection of carrier status in symptomatic and asymptomatic female relatives.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3722679

Detection of exonic copy-number changes using a highly efficient oligonucleotide-based comparative genomic hybridization-array method.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3722679

Muscle pain as the only presenting symptom in a girl with dystrophinopathy.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3722679

[Symptomatic carriers of dystrophinopathy with chromosome X inactivation bias]

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3722679

Variable histological expression of dystrophinopathy in two females.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3722679

Skewed X inactivation in manifesting carriers of Duchenne muscular dystrophy.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3722679

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

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3722679

Genetic and biochemical normalization in female carriers of Duchenne muscular dystrophy: evidence for failure of dystrophin production in dystrophin-competent myonuclei

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3722679

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

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3722679

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

4 September 2018

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FEJHG.2012.269

A female carrier of Duchenne muscular dystrophy complicated with cardiomyopathy

21 January 2018

1 reference

12 December 2020

Severe cognitive impairment in DMD: obvious clinical indication for Dp71 isoform point mutation screening

1 reference

12 December 2020

Cardiac abnormalities and skeletal muscle weakness in carriers of Duchenne and Becker muscular dystrophies and controls

1 reference

12 December 2020

Pseudo-metabolic presentation in a Duchenne muscular dystrophy symptomatic carrier with 'de novo' duplication of dystrophin gene

1 reference

12 December 2020

The muscular dystrophies

1 reference

12 December 2020

Cardiac assessment in childhood carriers of Duchenne and Becker muscular dystrophies

1 reference

12 December 2020

A manifesting carrier of Duchenne muscular dystrophy with severe myocardial symptoms

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

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

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

Development of cardiomyopathy in female carriers of Duchenne and Becker muscular dystrophies

1 reference

12 December 2020

Genetic counseling of isolated carriers of Duchenne muscular dystrophy

1 reference

12 December 2020

Absence of correlation between skewed X inactivation in blood and serum creatine-kinase levels in Duchenne/Becker female carriers

1 reference

12 December 2020

Cardiac involvement in carriers of Duchenne and Becker muscular dystrophy

1 reference

12 December 2020

Dystrophin analysis in carriers of Duchenne and Becker muscular dystrophy

1 reference

12 December 2020

Protein- and mRNA-based phenotype-genotype correlations in DMD/BMD with point mutations and molecular basis for BMD with nonsense and frameshift mutations in the DMD gene

1 reference

12 December 2020

Array-MLPA: comprehensive detection of deletions and duplications and its application to DMD patients

1 reference

12 December 2020

Identifiers

DOI

10.1038/EJHG.2012.269

1 reference

Dimensions Publication ID

17 August 2017

0 references

1 reference

17 August 2017

1 reference