The R245X mutation of PCDH15 in Ashkenazi Jewish children diagnosed with nonsyndromic hearing loss foreshadows retinitis pigmentosa (Q47930284)

6 February 2018

title

The R245X mutation of PCDH15 in Ashkenazi Jewish children diagnosed with nonsyndromic hearing loss foreshadows retinitis pigmentosa (English)

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6 February 2018

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Karen B Avraham

12

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Thomas B. Friedman

11

object named as

Thomas B Friedman

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6 February 2018

Minka Hildesheimer

10

object named as

Minka Hildesheimer

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6 February 2018

author name string

Zippora Brownstein

1

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6 February 2018

Tamar Ben-Yosef

2

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6 February 2018

Orit Dagan

3

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6 February 2018

Moshe Frydman

4

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Dvorah Abeliovich

5

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6 February 2018

Michal Sagi

6

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6 February 2018

Fabian A Abraham

7

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6 February 2018

Riki Taitelbaum-Swead

8

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Mordechai Shohat

9

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language of work or name

English

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publication date

17 March 2004

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6 February 2018

published in

Pediatric Research

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6 February 2018

volume

55

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6 February 2018

issue

6

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6 February 2018

page(s)

995-1000

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6 February 2018

Usher syndrome: definition and estimate of prevalence from two high-risk populations

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Genetic homogeneity and phenotypic variability among Ashkenazi Jews with Usher syndrome type III

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A novel locus for Usher syndrome type I, USH1G, maps to chromosome 17q24-25.

21 January 2018

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Nonsyndromic recessive deafness DFNB18 and Usher syndrome type IC are allelic mutations of USHIC.

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Usher syndrome 1D and nonsyndromic autosomal recessive deafness DFNB12 are caused by allelic mutations of the novel cadherin-like gene CDH23

21 January 2018

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Myosin VIIa, harmonin and cadherin 23, three Usher I gene products that cooperate to shape the sensory hair cell bundle

21 January 2018

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The autosomal recessive isolated deafness, DFNB2, and the Usher 1B syndrome are allelic defects of the myosin-VIIA gene

21 January 2018

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Usher syndrome type I G (USH1G) is caused by mutations in the gene encoding SANS, a protein that associates with the USH1C protein, harmonin

21 January 2018

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

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From DFNB2 to Usher syndrome: variable expressivity of the same disease.

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CDH23 mutation and phenotype heterogeneity: a profile of 107 diverse families with Usher syndrome and nonsyndromic deafness.

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Mutations in the novel protocadherin PCDH15 cause Usher syndrome type 1F

21 January 2018

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Mutations of the protocadherin gene PCDH15 cause Usher syndrome type 1F

21 January 2018

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PCDH15 is expressed in the neurosensory epithelium of the eye and ear and mutant alleles are responsible for both USH1F and DFNB23

21 January 2018

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Recent progress in protocadherin research

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A mutation of PCDH15 among Ashkenazi Jews with the type 1 Usher syndrome

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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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

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A deletion involving the connexin 30 gene in nonsyndromic hearing impairment

21 January 2018

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

21 January 2018

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

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The evaluation of children with sensorineural hearing loss.

21 January 2018

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10.1203/01.PDR.0000125258.58267.56

21 January 2018

Identifiers

DOI

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6 February 2018

Dimensions Publication ID

1022494066

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1 reference

6 February 2018