Pyrosequencing for detection of mutations in the connexin 26 (GJB2) and mitochondrial 12S RNA (MTRNR1) genes associated with hereditary hearing loss (Q50486360)

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scientific article published in October 2002

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English	Pyrosequencing for detection of mutations in the connexin 26 (GJB2) and mitochondrial 12S RNA (MTRNR1) genes associated with hereditary hearing loss	scientific article published in October 2002

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scholarly article

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Europe PubMed Central

PubMed publication ID

14 March 2018

http://europepmc.org/abstract/MED/12325027

Pyrosequencing for detection of mutations in the connexin 26 (GJB2) and mitochondrial 12S RNA (MTRNR1) genes associated with hereditary hearing loss (English)

1 reference

Europe PubMed Central

PubMed publication ID

14 March 2018

http://europepmc.org/abstract/MED/12325027

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Maurizio Margaglione

8

1 reference

Europe PubMed Central

PubMed publication ID

14 March 2018

http://europepmc.org/abstract/MED/12325027

Bruno Dallapiccola

10

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Europe PubMed Central

PubMed publication ID

14 March 2018

http://europepmc.org/abstract/MED/12325027

Gabriella Restagno

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Gabriella Restagno

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Europe PubMed Central

PubMed publication ID

14 March 2018

author name string

Alessandro Ferraris

1

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Europe PubMed Central

PubMed publication ID

14 March 2018

http://europepmc.org/abstract/MED/12325027

Eric Rappaport

2

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Europe PubMed Central

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14 March 2018

http://europepmc.org/abstract/MED/12325027

Rosa Santacroce

3

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Europe PubMed Central

PubMed publication ID

14 March 2018

http://europepmc.org/abstract/MED/12325027

Eleanor Pollak

4

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Europe PubMed Central

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14 March 2018

http://europepmc.org/abstract/MED/12325027

Ian Krantz

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14 March 2018

http://europepmc.org/abstract/MED/12325027

Stephen Toth

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14 March 2018

http://europepmc.org/abstract/MED/12325027

Frida Lysholm

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Europe PubMed Central

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14 March 2018

http://europepmc.org/abstract/MED/12325027

Saul Surrey

11

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Europe PubMed Central

PubMed publication ID

14 March 2018

http://europepmc.org/abstract/MED/12325027

Paolo Fortina

12

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14 March 2018

http://europepmc.org/abstract/MED/12325027

publication date

1 October 2002

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14 March 2018

http://europepmc.org/abstract/MED/12325027

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Europe PubMed Central

PubMed publication ID

14 March 2018

http://europepmc.org/abstract/MED/12325027

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14 March 2018

http://europepmc.org/abstract/MED/12325027

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14 March 2018

http://europepmc.org/abstract/MED/12325027

312-320

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Europe PubMed Central

PubMed publication ID

14 March 2018

http://europepmc.org/abstract/MED/12325027

Prevalent connexin 26 gene (GJB2) mutations in Japanese

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10127

21 January 2018

Homozygosity for the V37I Connexin 26 mutation in three unrelated children with sensorineural hearing loss

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10127

21 January 2018

Prelingual deafness: high prevalence of a 30delG mutation in the connexin 26 gene

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https://api.crossref.org/works/10.1002%2FHUMU.10127

21 January 2018

Connexin 26 gene linked to a dominant deafness

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https://api.crossref.org/works/10.1002%2FHUMU.10127

21 January 2018

Clinical features of the prevalent form of childhood deafness, DFNB1, due to a connexin-26 gene defect: implications for genetic counselling

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10127

21 January 2018

Connexin-26 mutations in sporadic and inherited sensorineural deafness

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10127

21 January 2018

Familial progressive sensorineural deafness is mainly due to the mtDNA A1555G mutation and is enhanced by treatment of aminoglycosides

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https://api.crossref.org/works/10.1002%2FHUMU.10127

21 January 2018

Pyrosequencing: an accurate detection platform for single nucleotide polymorphisms

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https://api.crossref.org/works/10.1002%2FHUMU.10127

21 January 2018

Parallel genotyping of human SNPs using generic high-density oligonucleotide tag arrays

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10127

21 January 2018

Mitochondrial deafness mutations reviewed

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https://api.crossref.org/works/10.1002%2FHUMU.10127

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10127

21 January 2018

Single nucleotide polymorphic discrimination by an electronic dot blot assay on semiconductor microchips

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10127

21 January 2018

Carrier rates in the midwestern United States for GJB2 mutations causing inherited deafness.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10127

21 January 2018

Novel mutations in the connexin 26 gene (GJB2) that cause autosomal recessive (DFNB1) hearing loss

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10127

21 January 2018

Connexin 26 mutations in hereditary non-syndromic sensorineural deafness

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10127

21 January 2018

Novel mutations in the connexin 26 gene (GJB2) responsible for childhood deafness in the Japanese population

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10127

21 January 2018

Methods for genotyping single nucleotide polymorphisms

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10127

21 January 2018

Mutations in the connexin 26 gene (GJB2) among Ashkenazi Jews with nonsyndromic recessive deafness

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10127

21 January 2018

Genetic epidemiology of hearing impairment

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10127

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10127

21 January 2018

Molecular basis of childhood deafness resulting from mutations in the GJB2 (connexin 26) gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10127

21 January 2018

Pyrosequencing sheds light on DNA sequencing

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10127

21 January 2018

High frequency hearing loss correlated with mutations in the GJB2 gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10127

21 January 2018

High-throughput methods for detection of genetic variation

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10127

7 January 2021

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Large-scale genotyping of single nucleotide polymorphisms by Pyrosequencing? and validation against the 5?nuclease (Taqman�) assay

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10127

7 January 2021

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Identifiers

10.1002/HUMU.10127

1 reference

Europe PubMed Central

PubMed publication ID

14 March 2018

http://europepmc.org/abstract/MED/12325027

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

14 March 2018

http://europepmc.org/abstract/MED/12325027

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