Pendred syndrome: evidence for genetic homogeneity and further refinement of linkage (Q33678412)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9039988%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

title

Pendred syndrome: evidence for genetic homogeneity and further refinement of linkage (English)

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1 November 2019

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2

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1 November 2019

Richard C Trembath

14

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1 November 2019

author name string

E Gausden

1

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1 November 2019

J A Armour

3

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1 November 2019

R Coffey

4

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1 November 2019

A Grossman

5

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1 November 2019

G R Fraser

6

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1 November 2019

R M Winter

7

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1 November 2019

M E Pembrey

8

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1 November 2019

P Kendall-Taylor

9

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1 November 2019

D Stephens

10

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1 November 2019

L M Luxon

11

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1 November 2019

P D Phelps

12

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1 November 2019

W Reardon

13

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1 November 2019

language of work or name

English

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publication date

1 February 1997

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Journal of Medical Genetics

1 November 2019

published in

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1 November 2019

volume

34

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1 November 2019

issue

2

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1 November 2019

page(s)

126-129

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ASSOCIATION OF CONGENITAL DEAFNESS WITH GOITRE (PENDRED'S SYNDROME) A STUDY OF 207 FAMILIES.

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=1050865

Thyroid peroxidase: evidence for disease gene exclusion in Pendred's syndrome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050865

A human recessive neurosensory nonsyndromic hearing impairment locus is potential homologue of murine deafness (dn) locus

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050865

Pendred syndrome maps to chromosome 7q21-34 and is caused by an intrinsic defect in thyroid iodine organification

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050865

Pendred syndrome (goitre and sensorineural hearing loss) maps to chromosome 7 in the region containing the nonsyndromic deafness gene DFNB4

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050865

An autosomal recessive nonsyndromic form of sensorineural hearing loss maps to 3p-DFNB6

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050865

Linkage of congenital, recessive deafness (DFNB4) to chromosome 7q31 and evidence for genetic heterogeneity in the Middle Eastern Druze population

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050865

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050865

A human gene responsible for neurosensory, non-syndromic recessive deafness is a candidate homologue of the mouse sh-1 gene

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050865

A powerful likelihood method for the analysis of linkage disequilibrium between trait loci and one or more polymorphic marker loci

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050865

Defective myosin VIIA gene responsible for Usher syndrome type 1B

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050865

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050865

A gene for congenital, recessive deafness DFNB3 maps to the pericentromeric region of chromosome 17.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050865

The 1993-94 Généthon human genetic linkage map

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050865

Localization of Usher syndrome type II to chromosome 1q.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050865

Mapping recessive ophthalmic diseases: linkage of the locus for Usher syndrome type II to a DNA marker on chromosome 1q.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050865

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050865

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050865

Association of congenital deafness with goitre; the nature of the thyroid defect.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050865

Autosomal recessive non-syndromic deafness locus (DFNB8) maps on chromosome 21q22 in a large consanguineous kindred from Pakistan.

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050865

Consanguineous nuclear families used to identify a new locus for recessive non-syndromic hearing loss on 14q.

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050865

A Gene Responsible for a Sensorineural Nonsyndromic Recessive Deafness Maps to Chromosome 2p22-23

30 October 2018

2 references

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050865

10 December 2018

https://pubmed.ncbi.nlm.nih.gov/9039988

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

The syndrome of sporadic goitre and congenital deafness

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/9039988

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1136/JMG.34.2.126

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9039988%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9039988%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

1 reference