Molecular characterization of exonic rearrangements and frame shifts in the dystrophin gene in Duchenne muscular dystrophy patients in a Saudi community. (Q52598175)

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scientific article published on 10 April 2018

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English	Molecular characterization of exonic rearrangements and frame shifts in the dystrophin gene in Duchenne muscular dystrophy patients in a Saudi community.	scientific article published on 10 April 2018

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scholarly article

1 reference

Europe PubMed Central

PMC publication ID

4 May 2018

http://europepmc.org/abstract/PMC/5891934

Molecular characterization of exonic rearrangements and frame shifts in the dystrophin gene in Duchenne muscular dystrophy patients in a Saudi community. (English)

1 reference

Europe PubMed Central

PMC publication ID

4 May 2018

http://europepmc.org/abstract/PMC/5891934

Duchenne muscular dystrophy

1 reference

based on heuristic

inferred from title

author name string

Nasser A Elhawary

1

1 reference

Europe PubMed Central

PMC publication ID

4 May 2018

http://europepmc.org/abstract/PMC/5891934

Essam H Jiffri

2

1 reference

Europe PubMed Central

PMC publication ID

4 May 2018

http://europepmc.org/abstract/PMC/5891934

Samira Jambi

3

1 reference

Europe PubMed Central

PMC publication ID

4 May 2018

http://europepmc.org/abstract/PMC/5891934

Ahmad H Mufti

4

1 reference

Europe PubMed Central

PMC publication ID

4 May 2018

http://europepmc.org/abstract/PMC/5891934

Anas Dannoun

5

1 reference

Europe PubMed Central

PMC publication ID

4 May 2018

http://europepmc.org/abstract/PMC/5891934

Hassan Kordi

6

1 reference

Europe PubMed Central

PMC publication ID

4 May 2018

http://europepmc.org/abstract/PMC/5891934

Asim Khogeer

7

1 reference

Europe PubMed Central

PMC publication ID

4 May 2018

http://europepmc.org/abstract/PMC/5891934

Osama H Jiffri

8

1 reference

Europe PubMed Central

PMC publication ID

4 May 2018

http://europepmc.org/abstract/PMC/5891934

Abdelrahman N Elhawary

9

1 reference

Europe PubMed Central

PMC publication ID

4 May 2018

http://europepmc.org/abstract/PMC/5891934

Mohammed T Tayeb

10

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Europe PubMed Central

PMC publication ID

4 May 2018

http://europepmc.org/abstract/PMC/5891934

publication date

10 April 2018

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Europe PubMed Central

PMC publication ID

4 May 2018

http://europepmc.org/abstract/PMC/5891934

1 reference

Europe PubMed Central

PMC publication ID

4 May 2018

http://europepmc.org/abstract/PMC/5891934

12

1 reference

Europe PubMed Central

PMC publication ID

4 May 2018

http://europepmc.org/abstract/PMC/5891934

1

1 reference

Europe PubMed Central

PMC publication ID

4 May 2018

http://europepmc.org/abstract/PMC/5891934

18

1 reference

Europe PubMed Central

PMC publication ID

4 May 2018

http://europepmc.org/abstract/PMC/5891934

copyright license

Creative Commons Attribution 4.0 International

10 April 2018

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April 2022 Public Data File from Crossref

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0 references

Combined Genetic Biomarkers Confer Susceptibility to Risk of Urothelial Bladder Carcinoma in a Saudi Population

1 reference

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22 May 2018

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Longitudinal effect of eteplirsen versus historical control on ambulation in Duchenne muscular dystrophy

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A comprehensive database of Duchenne and Becker muscular dystrophy patients (0-18 years old) in East China

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The TREAT-NMD DMD Global Database: analysis of more than 7,000 Duchenne muscular dystrophy mutations

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Screening of Duchenne muscular dystrophy (DMD) mutations and investigating its mutational mechanism in Chinese patients

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Improving recognition of Duchenne muscular dystrophy: a retrospective case note review

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Evaluation of multiplex ligation-dependent probe amplification analysis versus multiplex polymerase chain reaction assays in the detection of dystrophin gene rearrangements in an Iranian population subset

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New developments in the use of gene therapy to treat Duchenne muscular dystrophy

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22 May 2018

Deletion mutations in Duchenne muscular dystrophy (DMD) in Western Saudi children

1 reference

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22 May 2018

Bodywide skipping of exons 45-55 in dystrophic mdx52 mice by systemic antisense delivery

1 reference

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22 May 2018

Genetic analysis of dystrophin gene for affected male and female carriers with Duchenne/Becker muscular dystrophy in Korea.

1 reference

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22 May 2018

Aberrant firing of replication origins potentially explains intragenic nonrecurrent rearrangements within genes, including the human DMD gene

1 reference

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22 May 2018

Exon skipping and dystrophin restoration in patients with Duchenne muscular dystrophy after systemic phosphorodiamidate morpholino oligomer treatment: an open-label, phase 2, dose-escalation study

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Molecular updating of β-thalassemia mutations in the Upper Egyptian population.

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22 May 2018

Mechanisms of genomic instabilities underlying two common fragile-site-associated loci, PARK2 and DMD, in germ cell and cancer cell lines

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Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and pharmacological and psychosocial management

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DMD Trp3X nonsense mutation associated with a founder effect in North American families with mild Becker muscular dystrophy

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Delayed diagnosis in duchenne muscular dystrophy: data from the Muscular Dystrophy Surveillance, Tracking, and Research Network (MD STARnet).

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Molecular diagnosis of Duchenne/Becker muscular dystrophy: enhanced detection of dystrophin gene rearrangements by oligonucleotide array-comparative genomic hybridization

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Recommendations for locus-specific databases and their curation

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Increased genetic variation and evolutionary potential drive the success of an invasive grass

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Copy number variation in the genome; the human DMD gene as an example

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22 May 2018

Entries in the Leiden Duchenne muscular dystrophy mutation database: an overview of mutation types and paradoxical cases that confirm the reading-frame rule

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22 May 2018

Frameshift deletion mechanisms in Egyptian Duchenne and Becker muscular dystrophy families.

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22 May 2018

Dystrophin and mutations: one gene, several proteins, multiple phenotypes

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Advances in Duchenne muscular dystrophy gene therapy

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22 May 2018

Analysis of Dystrophin Gene Deletions by Multiplex PCR in Moroccan Patients

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

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Muscular dystrophies involving the dystrophin-glycoprotein complex: an overview of current mouse models.

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Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification

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A perfect message: RNA surveillance and nonsense-mediated decay

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Accurate diagnosis of carriers of deletions and duplications in Duchenne/Becker muscular dystrophy by fluorescent dosage analysis

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5891934

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Consanguinity among the Saudi Arabian population

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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

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An explanation for the phenotypic differences between patients bearing partial deletions of the DMD locus

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Dystrophin: the protein product of the Duchenne muscular dystrophy locus

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

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

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5891934

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Topography of the Duchenne muscular dystrophy (DMD) gene: FIGE and cDNA analysis of 194 cases reveals 115 deletions and 13 duplications

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Duplicational mutation at the Duchenne muscular dystrophy locus: its frequency, distribution, origin, and phenotypegenotype correlation

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5891934

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

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5891934

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Evolution of a genetic disease in an ethnic isolate: beta-thalassemia in the Jews of Kurdistan

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Population frequencies of inherited neuromuscular diseases—A world survey

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The natural history of the patients with Duchenne muscular dystrophy in Taiwan: A medical center experience.

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Efficient Skipping of Single Exon Duplications in DMD Patient-Derived Cell Lines Using an Antisense Oligonucleotide Approach

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Mutational spectrum of Duchenne muscular dystrophy in Spain: Study of 284 cases.

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Combination of conventional multiplex PCR and quantitative real-time PCR detects large rearrangements in the dystrophin gene in 59% of Syrian DMD/BMD patients.

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

1 reference

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High-precision DNA microsatellite genotyping in Duchenne muscular dystrophy families using ion-pair reversed-phase high performance liquid chromatography.

1 reference

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13 August 2018

Deletion and duplication screening in the DMD gene using MLPA.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5891934

13 August 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5891934

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MLPA analysis for the detection of deletions, duplications and complex rearrangements in the dystrophin gene: potential and pitfalls.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5891934

13 August 2018

Deletion mutations in the dystrophin gene of Saudi patients with Duchenne and Becker muscular dystrophy.

1 reference

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Analysis of 22 deletion breakpoints in dystrophin intron 49.

1 reference

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13 August 2018

Two hot spots of recombination in the DMD gene correlate with the deletion prone regions

1 reference

https://pubmed.ncbi.nlm.nih.gov/29631625

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Detection of Duchenne and Becker muscular dystrophy carriers by quantitative multiplex polymerase chain reaction analysis

1 reference

https://pubmed.ncbi.nlm.nih.gov/29631625

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Preferential deletion of exons in Duchenne and Becker muscular dystrophies

1 reference

https://pubmed.ncbi.nlm.nih.gov/29631625

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Duplication detection in Japanese Duchenne muscular dystrophy patients and identification of carriers with partial gene deletions using pulsed-field gel electrophoresis

1 reference

https://pubmed.ncbi.nlm.nih.gov/29631625

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Deletion analysis and clinical correlations in patients with Xp21 linked muscular dystrophy

1 reference

https://pubmed.ncbi.nlm.nih.gov/29631625

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1186/S40246-018-0152-8

1 reference

Europe PubMed Central

PMC publication ID

4 May 2018

http://europepmc.org/abstract/PMC/5891934

Dimensions Publication ID

1 reference

9 September 2019

https://scigraph.springernature.com/pub.10.1186/s40246-018-0152-8

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

4 May 2018

http://europepmc.org/abstract/PMC/5891934

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

4 May 2018

http://europepmc.org/abstract/PMC/5891934

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