Home
Random
Nearby
Log in
Settings
Donate
About Wikidata
Disclaimers
Search
(Q30495369)
Watch
English
Pendred syndrome
scientific article
In more languages
edit
Statements
instance of
scholarly article
1 reference
stated in
Europe PubMed Central
PMCID
1050818
retrieved
4 November 2017
review article
1 reference
stated in
Europe PubMed Central
title
Pendred syndrome
(English)
1 reference
stated in
Europe PubMed Central
PMCID
1050818
retrieved
4 November 2017
author
Richard C Trembath
series ordinal
2
1 reference
stated in
Europe PubMed Central
PMCID
1050818
retrieved
4 November 2017
author name string
Reardon W
series ordinal
1
1 reference
stated in
Europe PubMed Central
PMCID
1050818
retrieved
4 November 2017
language of work or name
English
0 references
publication date
1 December 1996
1 reference
stated in
Europe PubMed Central
PMCID
1050818
retrieved
4 November 2017
published in
Journal of Medical Genetics
1 reference
stated in
Europe PubMed Central
PMCID
1050818
retrieved
4 November 2017
volume
33
1 reference
stated in
Europe PubMed Central
PMCID
1050818
retrieved
4 November 2017
page(s)
1037-1040
1 reference
stated in
Europe PubMed Central
PMCID
1050818
retrieved
4 November 2017
issue
12
1 reference
stated in
Europe PubMed Central
PMCID
1050818
retrieved
4 November 2017
cites work
ASSOCIATION OF CONGENITAL DEAFNESS WITH GOITRE (PENDRED'S SYNDROME) A STUDY OF 207 FAMILIES.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050818
retrieved
20 June 2018
Thyroid peroxidase: evidence for disease gene exclusion in Pendred's syndrome
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050818
retrieved
20 June 2018
Pendred syndrome maps to chromosome 7q21-34 and is caused by an intrinsic defect in thyroid iodine organification
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050818
retrieved
20 June 2018
Pendred syndrome (goitre and sensorineural hearing loss) maps to chromosome 7 in the region containing the nonsyndromic deafness gene DFNB4
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050818
retrieved
20 June 2018
Linkage of congenital, recessive deafness (DFNB4) to chromosome 7q31 and evidence for genetic heterogeneity in the Middle Eastern Druze population
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050818
retrieved
20 June 2018
Alpha and beta thyroid hormone receptor (TR) gene expression during auditory neurogenesis: evidence for TR isoform-specific transcriptional regulation in vivo
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050818
retrieved
20 June 2018
Fifteen cases of Pendred's syndrome. Congenital deafness and sporadic goiter.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050818
retrieved
20 June 2018
Pendred's syndrome. Acoustic, vestibular and radiological findings in 17 unrelated patients.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050818
retrieved
20 June 2018
Pendred's syndrome with episodic vertigo, tinnitus and vomiting and normal bithermal caloric responses.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050818
retrieved
20 June 2018
The variable intrafamiliar expressivity in Pendred's syndrome.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050818
retrieved
20 June 2018
CT-scanning of the cochlea in Pendred's syndrome.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050818
retrieved
20 June 2018
Screening of nineteen unrelated families with generalized resistance to thyroid hormone for known point mutations in the thyroid hormone receptor beta gene and the detection of a new mutation
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050818
retrieved
20 June 2018
Recessive inheritance of thyroid hormone resistance caused by complete deletion of the protein-coding region of the thyroid hormone receptor-beta gene
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050818
retrieved
20 June 2018
Identification of a mutation in the coding sequence of the human thyroid peroxidase gene causing congenital goiter
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050818
retrieved
20 June 2018
The association of thyroid dyshormonogenesis and deafness (Pendred syndrome): experience of the Victorian Neonatal Thyroid Screening Programme
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050818
retrieved
20 June 2018
The association of deafness with thyroid dysfunction.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050818
retrieved
26 November 2018
Association of congenital deafness with goitre; the nature of the thyroid defect.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050818
retrieved
26 November 2018
Vestibular function in deafness and severe hardness of hearing.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050818
retrieved
26 November 2018
A 20-basepair duplication in the human thyroid peroxidase gene results in a total iodide organification defect and congenital hypothyroidism.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050818
retrieved
26 November 2018
Identification of five novel inactivating mutations in the human thyroid peroxidase gene by denaturing gradient gel electrophoresis
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050818
retrieved
26 November 2018
Defective organic binding of iodine by the thyroid in Hashimoto's thyroiditis
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/9004139
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
A 20-basepair duplication in the human thyroid peroxidase gene results in a total iodide organification defect and congenital hypothyroidism
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/9004139
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Identifiers
DOI
10.1136/JMG.33.12.1037
1 reference
stated in
Europe PubMed Central
PMCID
1050818
retrieved
4 November 2017
PMCID
1050818
1 reference
stated in
Europe PubMed Central
PMCID
1050818
retrieved
4 November 2017
PubMed ID
9004139
1 reference
stated in
Europe PubMed Central
PMCID
1050818
retrieved
4 November 2017
ResearchGate publication ID
14204617
0 references
Sitelinks
Wikipedia
(0 entries)
edit
Wikibooks
(0 entries)
edit
Wikinews
(0 entries)
edit
Wikiquote
(0 entries)
edit
Wikisource
(0 entries)
edit
Wikiversity
(0 entries)
edit
Wikivoyage
(0 entries)
edit
Wiktionary
(0 entries)
edit
Multilingual sites
(0 entries)
edit
