(Q73444221)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11180233%20AND%20SRC:MED&resulttype=core&format=json

4 November 2019

title

Prenatal diagnosis of prelingual deafness: carrier testing and prenatal diagnosis of the common GJB2 35delG mutation (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11180233%20AND%20SRC:MED&resulttype=core&format=json

4 November 2019

1 reference

T Antoniadi

1

1 reference

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4 November 2019

A Pampanos

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11180233%20AND%20SRC:MED&resulttype=core&format=json

4 November 2019

M B Petersen

series ordinal

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11180233%20AND%20SRC:MED&resulttype=core&format=json

4 November 2019

publication date

1 January 2001

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4 November 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11180233%20AND%20SRC:MED&resulttype=core&format=json

4 November 2019

volume

21

1 reference

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4 November 2019

issue

1

1 reference

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4 November 2019

page(s)

10-13

1 reference

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Genetic counseling of the deaf. Medical and cultural considerations

4 November 2019

cites work

1 reference

https://api.crossref.org/works/10.1002%2F1097-0223%28200101%2921%3A1%3C10%3A%3AAID-PD968%3E3.0.CO%3B2-H

Two different connexin 26 mutations in an inbred kindred segregating non-syndromic recessive deafness: implications for genetic studies in isolated populations.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1097-0223%28200101%2921%3A1%3C10%3A%3AAID-PD968%3E3.0.CO%3B2-H

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1097-0223%28200101%2921%3A1%3C10%3A%3AAID-PD968%3E3.0.CO%3B2-H

Connexin-26 mutations in sporadic and inherited sensorineural deafness

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1097-0223%28200101%2921%3A1%3C10%3A%3AAID-PD968%3E3.0.CO%3B2-H

Barriers to carrier testing for adult cystic fibrosis sibs: the importance of not knowing

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1097-0223%28200101%2921%3A1%3C10%3A%3AAID-PD968%3E3.0.CO%3B2-H

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1097-0223%28200101%2921%3A1%3C10%3A%3AAID-PD968%3E3.0.CO%3B2-H

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1097-0223%28200101%2921%3A1%3C10%3A%3AAID-PD968%3E3.0.CO%3B2-H

A non-syndrome form of neurosensory, recessive deafness maps to the pericentromeric region of chromosome 13q.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1097-0223%28200101%2921%3A1%3C10%3A%3AAID-PD968%3E3.0.CO%3B2-H

Antenatal diagnosis of congenital deafness

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1097-0223%28200101%2921%3A1%3C10%3A%3AAID-PD968%3E3.0.CO%3B2-H

Prenatal diagnosis of the thalassaemia syndromes by rapid DNA analytical methods

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1097-0223%28200101%2921%3A1%3C10%3A%3AAID-PD968%3E3.0.CO%3B2-H

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1097-0223%28200101%2921%3A1%3C10%3A%3AAID-PD968%3E3.0.CO%3B2-H

Connexin 26 mutations in hereditary non-syndromic sensorineural deafness

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1097-0223%28200101%2921%3A1%3C10%3A%3AAID-PD968%3E3.0.CO%3B2-H

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1097-0223%28200101%2921%3A1%3C10%3A%3AAID-PD968%3E3.0.CO%3B2-H

The choice to have a disabled child

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1097-0223%28200101%2921%3A1%3C10%3A%3AAID-PD968%3E3.0.CO%3B2-H

Attitudes of deaf adults toward genetic testing for hereditary deafness

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1097-0223%28200101%2921%3A1%3C10%3A%3AAID-PD968%3E3.0.CO%3B2-H

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1097-0223%28200101%2921%3A1%3C10%3A%3AAID-PD968%3E3.0.CO%3B2-H

Genetic epidemiology of hearing impairment

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1097-0223%28200101%2921%3A1%3C10%3A%3AAID-PD968%3E3.0.CO%3B2-H

Empowering the deaf. Let the deaf be deaf

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1097-0223%28200101%2921%3A1%3C10%3A%3AAID-PD968%3E3.0.CO%3B2-H

Genes responsible for human hereditary deafness: symphony of a thousand

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1097-0223%28200101%2921%3A1%3C10%3A%3AAID-PD968%3E3.0.CO%3B2-H

Identification of mutations in the connexin 26 gene that cause autosomal recessive nonsyndromic hearing loss

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1097-0223%28200101%2921%3A1%3C10%3A%3AAID-PD968%3E3.0.CO%3B2-H

Proband and parent assistance in identifying relatives for cystic fibrosis carrier testing

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1097-0223%28200101%2921%3A1%3C10%3A%3AAID-PD968%3E3.0.CO%3B2-H

Determination of the carrier frequency of the common GJB2 (connexin-26) 35delG mutation in the Belgian population using an easy and reliable screening method

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1097-0223%28200101%2921%3A1%3C10%3A%3AAID-PD968%3E3.0.CO%3B2-H

Connexin26 mutations associated with the most common form of non-syndromic neurosensory autosomal recessive deafness (DFNB1) in Mediterraneans

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1097-0223%28200101%2921%3A1%3C10%3A%3AAID-PD968%3E3.0.CO%3B2-H

10.1002/1097-0223(200101)21:1<10::AID-PD968>3.0.CO;2-H

21 January 2018

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11180233%20AND%20SRC:MED&resulttype=core&format=json

4 November 2019

1 reference