(Q37397655)

English

Targeted next-generation sequencing as a comprehensive test for patients with and female carriers of DMD/BMD: a multi-population diagnostic study

scientific article published on 12 June 2013

In more languages

default values for all languages

No label defined

No description defined

Statements

scholarly article

1 reference

Europe PubMed Central

PMC publication ID

20 August 2017

Targeted next-generation sequencing as a comprehensive test for patients with and female carriers of DMD/BMD: a multi-population diagnostic study (English)

1 reference

Europe PubMed Central

PMC publication ID

20 August 2017

0 references

object named as

Xiafei Hong

6

0 references

object named as

Jun Wang

26

0 references

18

object named as

Yu Liang

1 reference

Europe PubMed Central

PMC publication ID

20 August 2017

author name string

Xiaoming Wei

1

1 reference

Europe PubMed Central

PMC publication ID

20 August 2017

Yi Dai

2

1 reference

Europe PubMed Central

PMC publication ID

20 August 2017

Ping Yu

3

1 reference

Europe PubMed Central

PMC publication ID

20 August 2017

Ning Qu

4

1 reference

Europe PubMed Central

PMC publication ID

20 August 2017

Zhangzhang Lan

5

1 reference

Europe PubMed Central

PMC publication ID

20 August 2017

Yan Sun

7

1 reference

Europe PubMed Central

PMC publication ID

20 August 2017

Guanghui Yang

8

1 reference

Europe PubMed Central

PMC publication ID

20 August 2017

Shuqi Xie

9

1 reference

Europe PubMed Central

PMC publication ID

20 August 2017

Quan Shi

10

1 reference

Europe PubMed Central

PMC publication ID

20 August 2017

Hanlin Zhou

11

1 reference

Europe PubMed Central

PMC publication ID

20 August 2017

Qian Zhu

12

1 reference

Europe PubMed Central

PMC publication ID

20 August 2017

Yuxing Chu

13

1 reference

Europe PubMed Central

PMC publication ID

20 August 2017

Fengxia Yao

14

1 reference

Europe PubMed Central

PMC publication ID

20 August 2017

Jinming Wang

15

1 reference

Europe PubMed Central

PMC publication ID

20 August 2017

Jingni He

16

1 reference

Europe PubMed Central

PMC publication ID

20 August 2017

Yun Yang

17

1 reference

Europe PubMed Central

PMC publication ID

20 August 2017

Yi Yang

19

1 reference

Europe PubMed Central

PMC publication ID

20 August 2017

Ming Qi

20

1 reference

Europe PubMed Central

PMC publication ID

20 August 2017

Ling Yang

21

1 reference

Europe PubMed Central

PMC publication ID

20 August 2017

Wei Wang

22

1 reference

Europe PubMed Central

PMC publication ID

20 August 2017

Haitao Wu

23

1 reference

Europe PubMed Central

PMC publication ID

20 August 2017

Jing Duan

24

1 reference

Europe PubMed Central

PMC publication ID

20 August 2017

Cheng Shen

25

1 reference

Europe PubMed Central

PMC publication ID

20 August 2017

Liying Cui

27

1 reference

Europe PubMed Central

PMC publication ID

20 August 2017

Xin Yi

28

1 reference

Europe PubMed Central

PMC publication ID

20 August 2017

publication date

12 June 2013

1 reference

Europe PubMed Central

PMC publication ID

20 August 2017

European Journal of Human Genetics

1 reference

Europe PubMed Central

PMC publication ID

20 August 2017

22

1 reference

Europe PubMed Central

PMC publication ID

20 August 2017

1

1 reference

Europe PubMed Central

PMC publication ID

20 August 2017

110-118

1 reference

Europe PubMed Central

PMC publication ID

20 August 2017

Performance comparison of benchtop high-throughput sequencing platforms

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3865410

6 September 2017

Detection of truncated dystrophin lacking the C-terminal domain in a Chinese pedigree by next-generation sequencing

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3865410

6 September 2017

Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3865410

6 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3865410

6 September 2017

Current status of pharmaceutical and genetic therapeutic approaches to treat DMD.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3865410

6 September 2017

Systemic administration of PRO051 in Duchenne's muscular dystrophy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3865410

6 September 2017

Carrier testing for severe childhood recessive diseases by next-generation sequencing

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3865410

6 September 2017

Non-invasive prenatal assessment of trisomy 21 by multiplexed maternal plasma DNA sequencing: large scale validity study

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3865410

6 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3865410

6 September 2017

Mutational spectrum of DMD mutations in dystrophinopathy patients: application of modern diagnostic techniques to a large cohort

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3865410

6 September 2017

Exome sequencing identifies the cause of a mendelian disorder

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3865410

6 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3865410

6 September 2017

Microarray-based mutation detection in the dystrophin gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3865410

6 September 2017

PTC124 targets genetic disorders caused by nonsense mutations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3865410

6 September 2017

Advanced sequencing technologies and their wider impact in microbiology

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3865410

6 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3865410

6 September 2017

Detection of mutations in the dystrophin gene via automated DHPLC screening and direct sequencing

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3865410

6 September 2017

Dystrophin: the protein product of the Duchenne muscular dystrophy locus

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3865410

6 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3865410

6 September 2017

Gentamicin-induced readthrough of stop codons 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=3865410

2 September 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=3865410

2 September 2018

Analysis of deletions in DNA from patients with Becker and Duchenne muscular dystrophy

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2013.82

21 January 2018

Genetic diagnosis of Duchenne and Becker muscular dystrophy using next-generation sequencing technology: comprehensive mutational search in a single platform

1 reference

https://pubmed.ncbi.nlm.nih.gov/23756440

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Rapid, comprehensive analysis of the dystrophin transcript by a custom micro-fluidic exome array

1 reference

https://pubmed.ncbi.nlm.nih.gov/23756440

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Evidence-based path to newborn screening for Duchenne muscular dystrophy

1 reference

https://pubmed.ncbi.nlm.nih.gov/23756440

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/23756440

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1038/EJHG.2013.82

1 reference

Europe PubMed Central

PMC publication ID

20 August 2017

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

20 August 2017

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

20 August 2017

ResearchGate publication ID

0 references

Sitelinks

Wikipedia(0 entries)

Wikibooks(0 entries)

Wikinews(0 entries)

Wikiquote(0 entries)

Wikisource(0 entries)

Wikiversity(0 entries)

Wikivoyage(0 entries)

Wiktionary(0 entries)

Multilingual sites(0 entries)

Retrieved from "https://www.wikidata.org/w/index.php?title=Q37397655&oldid=2200295095"