(Q34380291)

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Genetic characterization in symptomatic female DMD carriers: lack of relationship between X-inactivation, transcriptional DMD allele balancing and phenotype

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scholarly article

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Europe PubMed Central

PubMed publication ID

1 August 2017

Genetic characterization in symptomatic female DMD carriers: lack of relationship between X-inactivation, transcriptional DMD allele balancing and phenotype (English)

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

18

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1 August 2017

Matteo Bovolenta

object named as

Matteo Bovolenta

5

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object named as

Rita Selvatici

8

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object named as

Giulia Ricci

11

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Gabriele Siciliano

object named as

Gabriele Siciliano

12

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object named as

Chiara Scotton

3

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object named as

Adele D'Amico

9

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Luciano Merlini

object named as

Luciano Merlini

19

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Patrizia Sabatelli

object named as

Patrizia Sabatelli

7

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Tiziana Mongini

20

object named as

Tiziana Mongini

1 reference

Europe PubMed Central

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1 August 2017

author name string

Simona Brioschi

1

1 reference

Europe PubMed Central

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1 August 2017

Francesca Gualandi

2

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Europe PubMed Central

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1 August 2017

Annarita Armaroli

4

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Europe PubMed Central

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1 August 2017

Maria S Falzarano

6

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Europe PubMed Central

PubMed publication ID

1 August 2017

Marika Pane

10

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

Silvana Tedeschi

13

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Europe PubMed Central

PubMed publication ID

1 August 2017

Antonella Pini

14

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Europe PubMed Central

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1 August 2017

Liliana Vercelli

15

1 reference

Europe PubMed Central

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1 August 2017

Domenico De Grandis

16

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Europe PubMed Central

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1 August 2017

Eugenio Mercuri

17

1 reference

Europe PubMed Central

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1 August 2017

Alessandra Ferlini

21

1 reference

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1 August 2017

publication date

16 August 2012

1 reference

Europe PubMed Central

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1 August 2017

BMC Medical Genetics

1 reference

Europe PubMed Central

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1 August 2017

13

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Europe PubMed Central

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1 August 2017

73

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1 August 2017

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=3459813

6 July 2018

Clinical and genetic characterization of manifesting carriers of DMD mutations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3459813

6 July 2018

A novel custom high density-comparative genomic hybridization array detects common rearrangements as well as deep intronic mutations in dystrophinopathies

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3459813

6 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3459813

6 July 2018

Intronic breakpoint definition and transcription analysis in DMD/BMD patients with deletion/duplication at the 5' mutation hot spot of the dystrophin gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3459813

6 July 2018

The causes and consequences of random and non-random X chromosome inactivation in humans

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3459813

6 July 2018

Uniparental disomy of the entire X chromosome in a female with Duchenne muscular dystrophy.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3459813

6 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3459813

6 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3459813

6 July 2018

Muscular dystrophy in girls with X;autosome translocations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3459813

6 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3459813

6 July 2018

Skewed X inactivation in a female MZ twin results 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=3459813

6 July 2018

The cardiomyopathy of Duchenne/Becker consultands

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3459813

6 July 2018

X Inactivation in Females with X-Linked Disease

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-13-73

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-13-73

21 January 2018

Symptomatic dystrophinopathies in female children.

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-13-73

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-13-73

21 January 2018

Improved molecular diagnosis of dystrophin gene mutations using the multiplex ligation-dependent probe amplification method.

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-13-73

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-13-73

21 January 2018

Disease manifestations and X inactivation in heterozygous females with Fabry disease.

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-13-73

21 January 2018

X-inactivation patterns in carriers of X-linked myotubular myopathy.

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-13-73

21 January 2018

X inactivation in females with X-linked disease.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3459813

27 October 2018

Protein measurement using bicinchoninic acid: elimination of interfering substances

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-13-73

21 January 2018

Absence of correlation between X chromosome inactivation pattern and plasma concentration of factor VIII and factor IX in carriers of haemophilia A and B

1 reference

https://pubmed.ncbi.nlm.nih.gov/22894145

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The manifesting carrier in Duchenne muscular dystrophy

1 reference

https://pubmed.ncbi.nlm.nih.gov/22894145

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

De novo DNA microdeletion in a girl with Turner syndrome and Duchenne muscular dystrophy

1 reference

https://pubmed.ncbi.nlm.nih.gov/22894145

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/22894145

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/22894145

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/22894145

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/22894145

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

https://pubmed.ncbi.nlm.nih.gov/22894145

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/22894145

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/22894145

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Dystrophin analysis in carriers of Duchenne and Becker muscular dystrophy

1 reference

https://pubmed.ncbi.nlm.nih.gov/22894145

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1186/1471-2350-13-73

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

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0 references

PMC publication ID

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

ResearchGate publication ID

0 references

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