(Q34144384)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11060213%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

case report

0 references

title

Genetic heterogeneity of Usher syndrome: analysis of 151 families with Usher type I (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11060213%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

1 reference

1 reference

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11060213%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

Rajkumar Ramesar

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11060213%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

Samuel G. Jacobson

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11060213%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

Carmen Ayuso

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11060213%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

author name string

L M Astuto

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11060213%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

M D Weston

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11060213%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

C A Carney

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11060213%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

D M Hoover

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11060213%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

C W Cremers

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11060213%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

M Wagenaar

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11060213%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

C Moller

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11060213%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

S Pieke-Dahl

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11060213%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

J Greenberg

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11060213%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

J R Heckenlively

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11060213%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

M Tamayo

15

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11060213%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

M B Gorin

16

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11060213%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

W Reardon

17

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11060213%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

W J Kimberling

18

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11060213%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

language of work or name

English

0 references

publication date

1 November 2000

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11060213%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Human Genetics

1 November 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11060213%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

volume

67

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11060213%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

page(s)

1569-1574

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11060213%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

issue

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11060213%20AND%20SRC:MED&resulttype=core&format=json

Retinitis pigmentosa combined with congenital deafness; with vestibulo-cerebellar ataxia and mental abnormality in a proportion of cases: A clinical and genetico-statistical study

1 November 2019

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287932

A recessive contiguous gene deletion causing infantile hyperinsulinism, enteropathy and deafness identifies the Usher type 1C gene

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287932

A defect in harmonin, a PDZ domain-containing protein expressed in the inner ear sensory hair cells, underlies Usher syndrome type 1C

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287932

Genetic heterogeneity of Usher syndrome type II: localisation to chromosome 5q

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287932

Usher syndrome type III (USH3) linked to chromosome 3q in an Italian family

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287932

Mutations in the myosin VIIA gene cause a wide phenotypic spectrum, including atypical Usher syndrome

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287932

Linkage analysis in Usher syndrome type I (USH1) families from Spain

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287932

Autosomal dominant non-syndromic deafness caused by a mutation in the myosin VIIA gene

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287932

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287932

Myosin VIIA gene: heterogeneity of the mutations responsible for Usher syndrome type IB

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287932

A newly identified locus for Usher syndrome type I, USH1E, maps to chromosome 21q21.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287932

Myosin VIIA mutation screening in 189 Usher syndrome type 1 patients

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287932

Localization of the Usher syndrome type ID gene (Ush1D) to chromosome 10.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287932

Clinical diagnosis of the Usher syndromes. Usher Syndrome Consortium

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287932

Assignment of an Usher syndrome type III (USH3) gene to chromosome 3q.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287932

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287932

Usher's syndrome--deafness and progressive blindness. Clinical cases, prevention, theory and literature survey

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287932

Multilocus linkage analysis in humans: detection of linkage and estimation of recombination

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287932

Estimation of prognosis and prevalence of retinitis pigmentosa and Usher syndrome in Norway

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287932

Localization of Usher syndrome type II to chromosome 1q.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287932

Localization of two genes for Usher syndrome type I to chromosome 11.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287932

Linkage of Usher syndrome type I gene (USH1B) to the long arm of chromosome 11

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287932

A gene for Usher syndrome type I (USH1A) maps to chromosome 14q

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287932

A novel locus for Usher syndrome type II, USH2B, maps to chromosome 3 at p23-24.2.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287932

Clinical and molecular genetics of Usher syndrome.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287932

Dystrophia retinae pigmentosa--dysacusis syndrome (DRD): a study of the Usher- or Hallgren syndrome

28 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/11060213

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1086/316889

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11060213%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11060213%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

1 reference