(Q33530552)

27 July 2017

title

High-throughput detection of mutations responsible for childhood hearing loss using resequencing microarrays (English)

1 reference

27 July 2017

1 reference

Heidi L Rehm

8

0 references

Bruce J Aronow

7

object named as

Bruce J Aronow

1 reference

27 July 2017

Prachi Kothiyal

1

1 reference

27 July 2017

Stephanie Cox

2

1 reference

27 July 2017

Jonathan Ebert

3

1 reference

27 July 2017

Ammar Husami

4

1 reference

27 July 2017

Margaret A Kenna

5

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27 July 2017

John H Greinwald

6

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27 July 2017

publication date

10 February 2010

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27 July 2017

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27 July 2017

volume

10

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27 July 2017

page(s)

10

1 reference

Mutations causing severe combined immunodeficiency: detection with a custom resequencing microarray

27 July 2017

cites work

1 reference

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Array-based resequencing assay for mutations causing hypertrophic cardiomyopathy

21 June 2018

1 reference

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A bioinformatic filter for improved base-call accuracy and polymorphism detection using the Affymetrix GeneChip whole-genome resequencing platform

21 June 2018

1 reference

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High throughput genetic analysis of congenital myasthenic syndromes using resequencing microarrays

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2841091

The large vestibular aqueduct: a new definition based on audiologic and computed tomography correlation

21 June 2018

1 reference

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Short oligonucleotide probes containing G-stacks display abnormal binding affinity on Affymetrix microarrays

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2841091

Novel resequencing chip customized to diagnose mutations in patients with inherited syndromes of intrahepatic cholestasis

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2841091

A transforming MET mutation discovered in non-small cell lung cancer using microarray-based resequencing

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2841091

High frequency of the IVS2-2A>G DNA sequence variation in SLC26A5, encoding the cochlear motor protein prestin, precludes its involvement in hereditary hearing loss

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2841091

Nucleic acid amplification strategies for DNA microarray-based pathogen detection

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2841091

Tracking the evolution of the SARS coronavirus using high-throughput, high-density resequencing arrays

21 June 2018

1 reference

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A genotype-phenotype correlation for GJB2 (connexin 26) deafness

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2841091

Genotypic and phenotypic correlations of DFNB1-related hearing impairment in the Midwestern United States

21 June 2018

1 reference

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Genetic diversity in yeast assessed with whole-genome oligonucleotide arrays

21 June 2018

1 reference

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Low-density DNA microarrays are versatile tools to screen for known mutations in hypertrophic cardiomyopathy

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2841091

High-throughput variation detection and genotyping using microarrays

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2841091

Usher syndrome 1D and nonsyndromic autosomal recessive deafness DFNB12 are caused by allelic mutations of the novel cadherin-like gene CDH23

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2841091

A mutation in OTOF, encoding otoferlin, a FER-1-like protein, causes DFNB9, a nonsyndromic form of deafness

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2841091

Resequencing and mutational analysis using oligonucleotide microarrays

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2841091

Molecular interactions on microarrays

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2841091

Pendred syndrome is caused by mutations in a putative sulphate transporter gene (PDS)

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2841091

The autosomal recessive isolated deafness, DFNB2, and the Usher 1B syndrome are allelic defects of the myosin-VIIA gene

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2841091

Steric factors influencing hybridisation of nucleic acids to oligonucleotide arrays

21 June 2018

1 reference

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DNA chips: analysing sequence by hybridization to oligonucleotides on a large scale

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2841091

Genetic analysis of amplified DNA with immobilized sequence-specific oligonucleotide probes

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2841091

A multicenter study of the frequency and distribution of GJB2 and GJB6 mutations in a large North American cohort

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2841091

Model-P: a basecalling method for resequencing microarrays of diploid samples

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2841091

Improved diagnostic effectiveness with a sequential diagnostic paradigm in idiopathic pediatric sensorineural hearing loss.

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2841091

Identification and functional characterization of a novel 27-bp deletion in the macroglycopeptide-coding region of the GPIBA gene resulting in platelet-type von Willebrand disease

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2841091

Correlation between functional genotypes in the matrix metalloproteinases-1 promoter and risk of oral squamous cell carcinomas

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2841091

A DNA resequencing array for pathogenic mutation detection in hypertrophic cardiomyopathy

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2841091

Analyzing and comparing nucleic acid sequences by hybridization to arrays of oligonucleotides: evaluation using experimental models

31 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/20146813

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Familial PAX8 small deletion (c.989_992delACCC) associated with extreme phenotype variability

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/20146813

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Screening candidate genes for mutations in patients with hypogonadotropic hypogonadism using custom genome resequencing microarrays

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/20146813

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1186/1472-6750-10-10

1 reference

Dimensions Publication ID

27 July 2017

0 references

1 reference

27 July 2017

1 reference