(Q47376524)

15 January 2018

reason for preferred rank

title

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

1 reference

https://api.crossref.org/works/10.1007/S00439-003-1018-1

13 March 2024

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

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A14505035

13 March 2024

0 references

1 reference

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A14505035

13 March 2024

1 reference

https://api.crossref.org/works/10.1007/S00439-003-1018-1

13 March 2024

author name string

Denise Yan

1

1 reference

15 January 2018

Hong-Joon Park

2

1 reference

15 January 2018

Xiao Mei Ouyang

3

1 reference

15 January 2018

Arti Pandya

4

1 reference

15 January 2018

Katsumi Doi

5

1 reference

15 January 2018

Raadnabazar Erdenetungalag

6

1 reference

15 January 2018

Li Lin Du

7

1 reference

15 January 2018

Naoki Matsushiro

8

1 reference

15 January 2018

Xue Zhong Liu

11

1 reference

15 January 2018

Walter E. Nance

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A14505035

13 March 2024

Andrew J. Griffith

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A14505035

13 March 2024

language of work or name

English

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=14505035

13 March 2024

publication date

18 September 2003

1 reference

15 January 2018

full work available at URL

http://link.springer.com/content/pdf/10.1007/s00439-003-1018-1.pdf

file format

Portable Document Format

1 reference

Crossref

DOI

https://api.crossref.org/works/10.1007/S00439-003-1018-1

http://link.springer.com/article/10.1007/s00439-003-1018-1/fulltext.html

13 March 2024

1 reference

https://api.crossref.org/works/10.1007/S00439-003-1018-1

http://link.springer.com/content/pdf/10.1007/s00439-003-1018-1

13 March 2024

1 reference

Crossref

DOI

https://api.crossref.org/works/10.1007/S00439-003-1018-1

13 March 2024

1 reference

15 January 2018

volume

114

1 reference

15 January 2018

issue

1

1 reference

15 January 2018

page(s)

44-50

1 reference

15 January 2018

https://scigraph.springernature.com/pub.10.1007/s00439-003-1018-1

exact match

0 references

cites work

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

1 reference

12 December 2020

Three novel connexin26 gene mutations in autosomal recessive non-syndromic deafness

1 reference

12 December 2020

Prevalent connexin 26 gene (GJB2) mutations in Japanese

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Founder effect of the C9 R95X mutation in Orientals

1 reference

12 December 2020

Mutations in the myosin VIIA gene cause non-syndromic recessive deafness

1 reference

12 December 2020

The application of molecular genetic approaches to the study of human evolution

1 reference

12 December 2020

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

1 reference

12 December 2020

Connexin mutations associated with palmoplantar keratoderma and profound deafness in a single family.

1 reference

12 December 2020

Characteristics of Mongoloid and neighboring populations based on the genetic markers of human immunoglobulins

1 reference

12 December 2020

Missense mutations in GJB2 encoding connexin-26 cause the ectodermal dysplasia keratitis-ichthyosis-deafness syndrome

1 reference

12 December 2020

The prevalence and expression of inherited connexin 26 mutations associated with nonsyndromic hearing loss in the Israeli population

1 reference

12 December 2020

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

1 reference

12 December 2020

A common founder for the 35delG GJB2 gene mutation in connexin 26 hearing impairment.

1 reference

12 December 2020

Recurrent mutations in the deafness gene GJB2 (connexin 26) in British Asian families

1 reference

12 December 2020

Connexin 26 mutations in hereditary non-syndromic sensorineural deafness

1 reference

12 December 2020

Connexin26 mutations associated with nonsyndromic hearing loss.

1 reference

12 December 2020

Characteristics of Mongoloid populations based on the human immunoglobulin allotypes

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Prevalence of permanent childhood hearing impairment in the United Kingdom and implications for universal neonatal hearing screening: questionnaire based ascertainment study

1 reference

12 December 2020

Connexin 26 R143W mutation associated with recessive nonsyndromic sensorineural deafness in Africa

1 reference

12 December 2020

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

1 reference

12 December 2020

The HUGO Gene Nomenclature Committee (HGNC).

1 reference

12 December 2020

A missense mutation in connexin26, D66H, causes mutilating keratoderma with sensorineural deafness (Vohwinkel's syndrome) in three unrelated families

1 reference

12 December 2020

Distribution of Gm and Km allotypes among five populations in China

1 reference

12 December 2020

Relation between choice of partner and high frequency of connexin-26 deafness

1 reference

12 December 2020

Selection for deafness?

1 reference

12 December 2020

The prevalence of connexin 26 ( GJB2) mutations in the Chinese population.

1 reference

12 December 2020

GJB2 deafness gene shows a specific spectrum of mutations in Japan, including a frequent founder mutation

1 reference

12 December 2020

Connexin 26 gene linked to a dominant deafness

1 reference

12 December 2020

Epidemiological studies on hearing impairment with reference to genetic factors in Sichuan, China

1 reference

12 December 2020

Founder effect of a prevalent phenylketonuria mutation in the Oriental population

1 reference

12 December 2020

Expression of the gap-junction connexins 26 and 30 in the rat cochlea

1 reference

12 December 2020

Identifiers

DOI

1 reference

15 January 2018

1 reference

15 January 2018