A rapid method for simultaneous screening of multi-gene mutations associated with hearing loss in the Korean population (Q34613043)

3 August 2017

A rapid method for simultaneous screening of multi-gene mutations associated with hearing loss in the Korean population (English)

1 reference

3 August 2017

1 reference

11

Un-Kyung Kim

1 reference

3 August 2017

10

Kyu-Yup Lee

1 reference

3 August 2017

Borum Sagong

1

1 reference

3 August 2017

Jeong-In Baek

2

1 reference

3 August 2017

Se-Kyung Oh

3

1 reference

3 August 2017

Kyung Jin Na

4

1 reference

3 August 2017

Jae Woong Bae

5

1 reference

3 August 2017

Soo Young Choi

6

1 reference

3 August 2017

Ji Yun Jeong

7

1 reference

3 August 2017

Jae Young Choi

8

1 reference

3 August 2017

Sang-Heun Lee

9

1 reference

3 August 2017

language of work or name

English

0 references

publication date

1 March 2013

1 reference

3 August 2017

1 reference

3 August 2017

8

1 reference

3 August 2017

3

1 reference

3 August 2017

e57237

1 reference

Creative Commons Attribution 4.0 International

3 August 2017

start time

1 March 2013

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

cites work

Molecular and clinical characterization of the variable phenotype in Korean families with hearing loss associated with the mitochondrial A1555G mutation

1 reference

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Breast cancer risk and 6q22.33: combined results from Breast Cancer Association Consortium and Consortium of Investigators on Modifiers of BRCA1/2

7 July 2018

1 reference

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CYP3A5 polymorphism in Mexican renal transplant recipients and its association with tacrolimus dosing

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3585873

Genetic Screening of GJB2 and SLC26A4 in Korean Cochlear Implantees: Experience of Soree Ear Clinic

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3585873

Applications of targeted gene capture and next-generation sequencing technologies in studies of human deafness and other genetic disabilities.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3585873

Estimation of carrier frequencies of six autosomal-recessive Mendelian disorders in the Korean population.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3585873

Molecular and functional characterization of human pendrin and its allelic variants

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3585873

Mitochondrial 12S rRNA mutations associated with aminoglycoside ototoxicity

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3585873

Salicylate restores transport function and anion exchanger activity of missense pendrin mutations

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3585873

A rapid method for detection of five known mutations associated with aminoglycoside-induced deafness

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3585873

Molecular analysis of the GJB2, GJB6 and SLC26A4 genes in Korean deafness patients

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3585873

Genetic basis of hearing loss associated with enlarged vestibular aqueducts in Koreans

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3585873

The minisequencing method: an alternative strategy for preimplantation genetic diagnosis of single gene disorders

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3585873

Origins and frequencies of SLC26A4 (PDS) mutations in east and south Asians: global implications for the epidemiology of deafness

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3585873

Functional study of GJB2 in hereditary hearing loss

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3585873

Mutations of the PDS gene, encoding pendrin, are associated with protein mislocalization and loss of iodide efflux: implications for thyroid dysfunction in Pendred syndrome

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3585873

Molecular genetics of hearing loss

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3585873

Clinical phenotype and mutations in connexin 26 (DFNB1/GJB2), the most common cause of childhood hearing loss

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3585873

Genetic epidemiological studies of early-onset deafness in the U.S. school-age population

7 July 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0057237

Evidence of a founder effect for the 235delC mutation of GJB2 (connexin�26) in east Asians

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0057237

Heterogeneity in the processing defect of SLC26A4 mutants.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0057237

Hearing loss associated with enlarged vestibular aqueduct and Mondini dysplasia is caused by splice-site mutation in the PDS gene.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0057237

A single multiplex PCR and SNaPshot minisequencing reaction of 42 SNPs to classify admixture populations into mitochondrial DNA haplogroups.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0057237

Subtyping mtDNA haplogroup H by SNaPshot minisequencing and its application in forensic individual identification.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0057237

Application of the SNaPshot minisequencing assay to species identification in the Lactobacillus casei group

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0057237

Congenital adrenal hyperplasia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0057237

C3435T polymorphism of the ABCB1/MDR1 gene encoding P-glycoprotein in patients with inflammatory bowel disease in a Polish population

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0057237

Carrier frequency of GJB2 (connexin-26) mutations causing inherited deafness in the Korean population

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0057237

Connexin26 mutations associated with nonsyndromic hearing loss.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0057237

Extensive and rapid screening for major mitochondrial DNA point mutations in patients with hereditary hearing loss

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0057237

Easy, rapid, and cost-effective methods for identifying carriers of recurrent GJB2 mutations causing nonsyndromic hearing impairment in the Greek population.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0057237

High carrier frequency of the 35delG deafness mutation in European populations

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0057237

Presence of fetal DNA in maternal plasma and serum

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0057237

[PIK3CA mutation is an independent indicator of malignant phenotype and prognosis in breast cancer].

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3585873

[Rapid detection of the hot spot gene mutations in Chinese patients with nonsyndromic hearing loss by polymerase chain reaction-restrictive fragment length polymorphism].

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3585873

Molecular analysis of mitochondrial gene mutations in Korean patients with nonsyndromic hearing loss.

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3585873

Differential DNA methylation between fetus and mother as a strategy for detecting fetal DNA in maternal plasma

26 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23469187

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Authentication of meat from game and domestic species by SNaPshot minisequencing analysis

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23469187

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Accurate, high-throughput "snapshot" detection of hMLH1 mutations by two-dimensional DNA electrophoresis

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23469187

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1371/JOURNAL.PONE.0057237

1 reference

3 August 2017

0 references

1 reference

3 August 2017

1 reference