(Q44380931)

2 December 2017

title

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

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2 December 2017

19

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2 December 2017

Karen E Weck

24

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Maimoona A Zariwala

28

object named as

Maimoona A Zariwala

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2 December 2017

Girish V Putcha

1

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2 December 2017

Bassem A Bejjani

2

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2 December 2017

Stacey Bleoo

3

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2 December 2017

Jessica K Booker

4

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2 December 2017

John C Carey

5

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2 December 2017

Nancy Carson

6

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2 December 2017

Soma Das

7

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2 December 2017

Melissa A Dempsey

8

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2 December 2017

Julie M Gastier-Foster

9

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2 December 2017

John H Greinwald

10

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2 December 2017

Marcy L Hoffmann

11

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2 December 2017

Linda Jo Bone Jeng

12

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2 December 2017

Margaret A Kenna

13

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2 December 2017

Ishrag Khababa

14

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2 December 2017

Margaret Lilley

15

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2 December 2017

Rong Mao

16

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2 December 2017

Kasinathan Muralidharan

17

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2 December 2017

Iris M Otani

18

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2 December 2017

Fred Schaefer

20

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2 December 2017

William K Seltzer

21

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2 December 2017

Elaine B Spector

22

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2 December 2017

Michelle A Springer

23

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2 December 2017

Richard J Wenstrup

25

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2 December 2017

Stacey Withrow

26

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2 December 2017

Bai-Lin Wu

27

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2 December 2017

Iris Schrijver

29

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2 December 2017

language of work or name

English

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publication date

1 July 2007

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2 December 2017

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2 December 2017

volume

9

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2 December 2017

issue

7

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2 December 2017

page(s)

413-426

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https://scigraph.springernature.com/pub.10.1097/gim.0b013e3180a03276

2 December 2017

exact match

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cites work

Hereditary sensorineural hearing loss: advances in molecular genetics and mutation analysis

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3180A03276

Universal infant hearing screening by automated auditory brainstem response measurement.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3180A03276

GJB2 (connexin 26) variants and nonsyndromic sensorineural hearing loss: a HuGE review

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3180A03276

Connections with connexins: the molecular basis of direct intercellular signaling

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3180A03276

Gap junctions in the rat cochlea: immunohistochemical and ultrastructural analysis

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3180A03276

Connexin-26 mutations in sporadic and inherited sensorineural deafness

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3180A03276

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3180A03276

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/10.1097%2FGIM.0B013E3180A03276

Prevalent connexin 26 gene (GJB2) mutations in Japanese

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3180A03276

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3180A03276

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3180A03276

Genetics Evaluation Guidelines for the Etiologic Diagnosis of Congenital Hearing Loss. Genetic Evaluation of Congenital Hearing Loss Expert Panel. ACMG statement

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3180A03276

Prevalence and evolutionary origins of the del(GJB6-D13S1830) mutation in the DFNB1 locus in hearing-impaired subjects: a multicenter study

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3180A03276

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3180A03276

A deletion involving the connexin 30 gene in nonsyndromic hearing impairment

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3180A03276

A deletion mutation in GJB6 cooperating with a GJB2 mutation in trans in non-syndromic deafness: A novel founder mutation in Ashkenazi Jews

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3180A03276

A novel deletion involving the connexin-30 gene, del(GJB6-d13s1854), found in trans with mutations in the GJB2 gene (connexin-26) in subjects with DFNB1 non-syndromic hearing impairment.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3180A03276

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3180A03276

GJB2 mutations and degree of hearing loss: a multicenter study

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3180A03276

Prevalence of GJB2 mutations and the del(GJB6-D13S1830) in Argentinean non-syndromic deaf patients.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3180A03276

Autosomal recessive and sporadic deafness in Morocco: high frequency of the 35delG GJB2 mutation and absence of the 342-kb GJB6 variant

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3180A03276

GJB2 mutations in Turkish patients with ARNSHL: prevalence and two novel mutations.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3180A03276

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3180A03276

GJB2 and GJB6 mutations: genotypic and phenotypic correlations in a large cohort of hearing-impaired patients.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3180A03276

Ethnicity and mutations in GJB2 (connexin 26) and GJB6 (connexin 30) in a multi-cultural Canadian paediatric Cochlear Implant Program.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3180A03276

Molecular epidemiology of DFNB1 deafness in France

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3180A03276

Hearing impairment in Dutch patients with connexin 26 (GJB2) and connexin 30 (GJB6) mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3180A03276

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3180A03276

A genetic approach to the child with sensorineural hearing loss

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3180A03276

The use of genetic testing in the evaluation of hearing impairment in a child.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3180A03276

V37I connexin 26 allele in patients with sensorineural hearing loss: Evidence of its pathogenicity

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3180A03276

10.1097/GIM.0B013E3180A03276

21 January 2018

Identifiers

DOI

1 reference

Dimensions Publication ID

2 December 2017

1043778466

0 references

1 reference