(Q84934413)

English

Gene diagnosis for nine Chinese patients with DMD/BMD by multiplex ligation-dependent probe amplification and prenatal diagnosis for one of them

scientific article published on 01 January 2009

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scholarly article

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12 February 2020

Gene diagnosis for nine Chinese patients with DMD/BMD by multiplex ligation-dependent probe amplification and prenatal diagnosis for one of them (English)

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19927354%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

author name string

Yupeng Wu

1

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12 February 2020

Gengxin Yin

2

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12 February 2020

Keqin Fu

3

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12 February 2020

De Wu

4

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12 February 2020

Qian Zhai

5

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12 February 2020

Huarong Du

6

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12 February 2020

Zhongjun Huang

7

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12 February 2020

Yuhua Niu

8

1 reference

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12 February 2020

publication date

1 January 2009

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12 February 2020

Journal of Clinical Laboratory Analysis

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12 February 2020

23

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12 February 2020

6

1 reference

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PMC publication ID

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12 February 2020

380-386

1 reference

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PMC publication ID

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12 February 2020

Two buffer PAGE system-based SSCP/HD analysis: a general protocol for rapid and sensitive mutation screening in cystic fibrosis and any other human genetic disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/19927354

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Structural variation in Xq28: MECP2 duplications in 1% of patients with unexplained XLMR and in 2% of male patients with severe encephalopathy

1 reference

https://pubmed.ncbi.nlm.nih.gov/19927354

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/19927354

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Amended Canadian guideline for prenatal diagnosis (2005) change to 2005-techniques for prenatal diagnosis

1 reference

https://pubmed.ncbi.nlm.nih.gov/19927354

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The dystrophy of Duchenne

1 reference

https://pubmed.ncbi.nlm.nih.gov/19927354

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Prevalence and incidence of Becker muscular dystrophy

1 reference

https://pubmed.ncbi.nlm.nih.gov/19927354

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identification of duchenne muscular dystrophy female carriers by fluorescence in situ hybridization and RT-PCR.

1 reference

https://pubmed.ncbi.nlm.nih.gov/19927354

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Novel point mutations in the dystrophin gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/19927354

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

https://pubmed.ncbi.nlm.nih.gov/19927354

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Population data on benign and severe forms of X-linked muscular dystrophy

1 reference

https://pubmed.ncbi.nlm.nih.gov/19927354

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/19927354

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

HER-2/neu amplification testing in breast cancer by multiplex ligation-dependent probe amplification in comparison with immunohistochemistry and in situ hybridization.

1 reference

https://pubmed.ncbi.nlm.nih.gov/19927354

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/19927354

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

New therapies for Duchenne muscular dystrophy: challenges, prospects and clinical trials.

1 reference

https://pubmed.ncbi.nlm.nih.gov/19927354

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Reconstruction of the 2.4 Mb human DMD-gene by homologous YAC recombination

1 reference

https://pubmed.ncbi.nlm.nih.gov/19927354

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Carrier detection and prenatal diagnosis in Duchenne and Becker muscular dystrophy families, using dinucleotide repeat polymorphisms

1 reference

https://pubmed.ncbi.nlm.nih.gov/19927354

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Prenatal diagnosis: update on invasive versus noninvasive fetal diagnostic testing from maternal blood

1 reference

https://pubmed.ncbi.nlm.nih.gov/19927354

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Deletion patterns of dystrophin gene in Hungarian patients with Duchenne/Becker muscular dystrophies.

1 reference

https://pubmed.ncbi.nlm.nih.gov/19927354

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Gene therapy progress and prospects: Duchenne muscular dystrophy

1 reference

https://pubmed.ncbi.nlm.nih.gov/19927354

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Diagnosis of Duchenne/Becker muscular dystrophy and quantitative identification of carrier status by use of entangled solution capillary electrophoresis.

1 reference

https://pubmed.ncbi.nlm.nih.gov/19927354

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/19927354

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Point mutations in the dystrophin gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/19927354

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Multiplex real-time PCR for detection of deletions and duplications in dystrophin gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/19927354

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Duchenne muscular dystrophy: gene and gene product; mechanism of mutation in the gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/19927354

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Advances in Duchenne muscular dystrophy gene therapy

1 reference

https://pubmed.ncbi.nlm.nih.gov/19927354

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Birth and population prevalence of Duchenne muscular dystrophy in The Netherlands

1 reference

https://pubmed.ncbi.nlm.nih.gov/19927354

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Isolation of candidate cDNAs for portions of the Duchenne muscular dystrophy gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/19927354

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/19927354

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Dystrophin. The gene and its product

1 reference

https://pubmed.ncbi.nlm.nih.gov/19927354

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Novel mutations of dystrophin gene in DMD patients detected by rapid scanning in biplex exons DHPLC analysis

1 reference

https://pubmed.ncbi.nlm.nih.gov/19927354

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identification of female carriers for Duchenne and Becker muscular dystrophies using a FISH-based approach

1 reference

https://pubmed.ncbi.nlm.nih.gov/19927354

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

BRCA1 and BRCA2 mutation prevalence and clinical characteristics of a population-based series of ovarian cancer cases from Denmark.

1 reference

https://pubmed.ncbi.nlm.nih.gov/19927354

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/19927354

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Clinical diagnosis of heterozygous dystrophin gene deletions by fluorescence in situ hybridization

1 reference

https://pubmed.ncbi.nlm.nih.gov/19927354

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1002/JCLA.20349

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19927354%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19927354%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19927354%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

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