Genetics of hereditary hearing loss in east Iran population: A systematic review of GJB2 mutations (Q90116929)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:31523863 AND SRC:MED&resulttype=core&format=json

11 April 2020

review article

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title

Genetics of hereditary hearing loss in east Iran population: A systematic review of GJB2 mutations (English)

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:31523863 AND SRC:MED&resulttype=core&format=json

11 April 2020

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Mahbobeh Koohiyan

1

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11 April 2020

Fatemeh Azadegan-Dehkordi

2

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11 April 2020

Farideh Koohian

3

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11 April 2020

Marziye Abolhasani

4

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11 April 2020

Morteza Hashemzadeh-Chaleshtori

5

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11 April 2020

publication date

1 August 2019

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Intractable & Rare Diseases Research

11 April 2020

published in

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:31523863 AND SRC:MED&resulttype=core&format=json

11 April 2020

volume

8

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11 April 2020

issue

3

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11 April 2020

page(s)

172-178

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Genetic epidemiology of hearing impairment

11 April 2020

cites work

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12 December 2020

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

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12 December 2020

Prevalent connexin 26 gene (GJB2) mutations in Japanese

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12 December 2020

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

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12 December 2020

Contribution of connexin 26 mutations to nonsyndromic deafness in Ashkenazi patients and the variable phenotypic effect of the mutation 167delT.

1 reference

12 December 2020

Pattern of connexin 26 (GJB2) mutations causing sensorineural hearing impairment in Ghana

1 reference

12 December 2020

Contribution of connexin26 (GJB2) mutations and founder effect to non-syndromic hearing loss in India

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12 December 2020

Screening of families with autosomal recessive non-syndromic hearing impairment (ARNSHI) for mutations in GJB2 gene: Indian scenario

1 reference

12 December 2020

Frequency and distribution of GJB2 (connexin 26) and GJB6 (connexin 30) mutations in a large North American repository of deaf probands

1 reference

12 December 2020

Low prevalence of Connexin 26 (GJB2) variants in Pakistani families with autosomal recessive non-syndromic hearing impairment

1 reference

12 December 2020

GJB2 mutations: passage through Iran

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12 December 2020

Common mutation analysis of GJB2 and GJB6 genes in affected families with autosomal recessive non-syndromic hearing loss from Iran: simultaneous detection of two common mutations (35delG/del(GJB6-D13S1830)) in the DFNB1-related deafness.

1 reference

12 December 2020

High carrier frequency of the GJB2 mutation (35delG) in the north of Iran

1 reference

12 December 2020

Carrier rates of the ancestral Indian W24X mutation in GJB2 in the general Gypsy population and individual subisolates

1 reference

12 December 2020

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

1 reference

12 December 2020

GJB2 mutations in Baluchi population

1 reference

12 December 2020

Mutation analysis of familial GJB2-related deafness in Iranian Azeri Turkish patients

1 reference

12 December 2020

GJB2 mutations in patients with nonsyndromic hearing loss from Croatia

1 reference

12 December 2020

GJB2 and GJB6 genes: molecular study and identification of novel GJB2 mutations in the hearing-impaired Argentinean population.

1 reference

12 December 2020

Statistical study of 35delG mutation of GJB2 gene: a meta-analysis of carrier frequency

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12 December 2020

Spectrum of GJB2 mutations in a cohort of nonsyndromic hearing loss cases from the Kingdom of Saudi Arabia

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12 December 2020

A novel 355-357delGAG mutation and frequency of connexin-26 (GJB2) mutations in Iranian patients

1 reference

12 December 2020

Absence of mutations in GJB2 (Connexin-26) gene in an ethnic group of southwest Iran

1 reference

12 December 2020

Impact of Consanguineous Marriages in GJB2-Related Hearing Loss in the Iranian Population: A Report of a Novel Variant

1 reference

12 December 2020

Allele-specific impairment of GJB2 expression by GJB6 deletion del(GJB6-D13S1854)

1 reference

12 December 2020

Spectrum of GJB2 (Cx26) gene mutations in Iranian Azeri patients with nonsyndromic autosomal recessive hearing loss.

1 reference

12 December 2020

The spectrum of GJB2 mutations in the Iranian population with non-syndromic hearing loss--a twelve year study

1 reference

12 December 2020

Prevalence of GJB2 (CX26) gene mutations in south Iranian patients with autosomal recessive nonsyndromic sensorineural hearing loss

1 reference

12 December 2020

Genetics of non-syndromic hearing loss in the Middle East.

1 reference

12 December 2020

Deafness gene variations in a 1120 nonsyndromic hearing loss cohort: molecular epidemiology and deafness mutation spectrum of patients in Japan

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12 December 2020

Comprehensive analysis via exome sequencing uncovers genetic etiology in autosomal recessive nonsyndromic deafness in a large multiethnic cohort

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12 December 2020

Mutation spectrum of autosomal recessive non-syndromic hearing loss in central Iran

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12 December 2020

Update of the spectrum of GJB2 gene mutations in 152 Moroccan families with autosomal recessive nonsyndromic hearing loss

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12 December 2020

Genetic Linkage Analysis of DFNB3, DFNB9 and DFNB21 Loci in GJB2 Negative Families with Autosomal Recessive Non-syndromic Hearing Loss

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12 December 2020

Prevalence of GJB2 Mutations in Affected Individuals from United Arab Emirates with Autosomal Recessive Nonsyndromic Hearing Loss.

1 reference

12 December 2020

DFNB1 Non-syndromic Hearing Impairment: Diversity of Mutations and Associated Phenotypes

1 reference

12 December 2020

GJB2 mutations causing autosomal recessive non-syndromic hearing loss (ARNSHL) in two Iranian populations: Report of two novel variants.

1 reference

12 December 2020

Update of spectrum c.35delG and c.-23 1G>A mutations on the GJB2 gene in individuals with autosomal recessive nonsyndromic hearing loss

1 reference

12 December 2020

Mutations in GJB2 as Major Causes of Autosomal Recessive Non-Syndromic Hearing Loss: First Report of c.299-300delAT Mutation in Kurdish Population of Iran

1 reference

12 December 2020

An update of spectrum and frequency of GJB2 mutations causing hearing loss in the south of Iran: A literature review

1 reference

12 December 2020

Identification and Clinical Implications of a Novel MYO15A Variant in a Consanguineous Iranian Family by Targeted Exome Sequencing

1 reference

12 December 2020

A systematic review of SLC26A4 mutations causing hearing loss in the Iranian population

1 reference

12 December 2020

Identifiers

DOI

10.5582/IRDR.2019.01070

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:31523863 AND SRC:MED&resulttype=core&format=json

11 April 2020

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:31523863 AND SRC:MED&resulttype=core&format=json

11 April 2020

PubMed publication ID

31523863

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