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Genetic causes of congenital hypothyroidism due to dyshormonogenesis
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PubMed
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Europe PubMed Central
title
Genetic causes of congenital hypothyroidism due to dyshormonogenesis
(English)
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stated in
PubMed
main subject
congenital disorder
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congenital hypothyroidism
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based on heuristic
inferred from title
Thyroid dyshormonogenesis
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based on heuristic
inferred from title
author name string
Grasberger H
series ordinal
1
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PubMed
Refetoff S
series ordinal
2
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PubMed
publication date
August 2011
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PubMed
published in
Current Opinion in Pediatrics
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PubMed
volume
23
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PubMed
issue
4
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PubMed
page(s)
421-8
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PubMed
cites work
Cloning of two human thyroid cDNAs encoding new members of the NADPH oxidase family
1 reference
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PubMed Central
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Congenital hypothyroidism due to mutations in the sodium/iodide symporter. Identification of a nonsense mutation producing a downstream cryptic 3' splice site
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PubMed Central
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20 March 2017
Pendred syndrome is caused by mutations in a putative sulphate transporter gene (PDS)
1 reference
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PubMed Central
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20 March 2017
Identification of a mutation in the coding sequence of the human thyroid peroxidase gene causing congenital goiter
1 reference
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PubMed Central
reference URL
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20 March 2017
Inactivating mutations in the gene for thyroid oxidase 2 (THOX2) and congenital hypothyroidism
1 reference
stated in
PubMed Central
reference URL
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20 March 2017
Pendred syndrome, DFNB4, and PDS/SLC26A4 identification of eight novel mutations and possible genotype-phenotype correlations
1 reference
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PubMed Central
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20 March 2017
High prevalence of thyroid peroxidase gene mutations in patients with thyroid dyshormonogenesis
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PubMed Central
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20 March 2017
A direct role for dual oxidase in Drosophila gut immunity
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PubMed Central
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20 March 2017
Molecular analysis of the PDS gene in Pendred syndrome
1 reference
stated in
PubMed Central
reference URL
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20 March 2017
Congenital hypothyroidism caused by a mutation in the Na+/I- symporter
1 reference
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PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3263319
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20 March 2017
Cloning and characterization of the thyroid iodide transporter
1 reference
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PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3263319
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20 March 2017
A single copy of the recently identified dual oxidase maturation factor (DUOXA) 1 gene produces only mild transient hypothyroidism in a patient with a novel biallelic DUOXA2 mutation and monoallelic DUOXA1 deletion
1 reference
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PubMed Central
reference URL
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29 September 2017
Genetics and phenomics of hypothyroidism and goiter due to TPO mutations
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PubMed Central
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29 September 2017
Genetics and phenomics of hypothyroidism and goiter due to NIS mutations
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PubMed Central
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29 September 2017
Defects of thyroidal hydrogen peroxide generation in congenital hypothyroidism
1 reference
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PubMed Central
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29 September 2017
Genetics and phenomics of hypothyroidism and goiter due to thyroglobulin mutations
1 reference
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PubMed Central
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29 September 2017
Molecular characterization of iodotyrosine dehalogenase deficiency in patients with hypothyroidism.
1 reference
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PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3263319
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29 September 2017
Scintigraphic imaging of paediatric thyroid dysfunction.
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PubMed Central
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29 September 2017
Mutations in the iodotyrosine deiodinase gene and 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=3263319
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29 September 2017
Biallelic inactivation of the dual oxidase maturation factor 2 (DUOXA2) gene as a novel cause of 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=3263319
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29 September 2017
Thyroglobulin gene mutations producing defective intracellular transport of thyroglobulin are associated with increased thyroidal type 2 iodothyronine deiodinase activity
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=3263319
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29 September 2017
Extending the clinical heterogeneity of iodide transport defect (ITD): a novel mutation R124H of the sodium/iodide symporter gene and review of genotype-phenotype correlations in ITD.
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=3263319
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29 September 2017
Contribution of genetic factors to neonatal transient hypothyroidism
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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=3263319
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29 September 2017
Intrauterine diagnosis and management of congenital goitrous 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=3263319
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29 September 2017
Pendred syndrome--100 years of underascertainment?
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PubMed Central
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29 September 2017
Evolution of hypothyroidism in familial goitre due to deiodinase deficiency: report of a family and review of the literature
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PubMed Central
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29 September 2017
A 3' splice site mutation in the thyroglobulin gene responsible for congenital goiter with 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=3263319
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29 September 2017
Compound heterozygosity for a novel hemizygous missense mutation and a partial deletion affecting the catalytic core of the H2O2-generating enzyme DUOX2 associated with transient 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=3263319
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27 November 2018
Identification and functional studies of two new dual-oxidase 2 (DUOX2) mutations in a child with congenital hypothyroidism and a eutopic normal-size thyroid gland
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=3263319
retrieved
27 November 2018
Transient congenital hypothyroidism caused by biallelic mutations of the dual oxidase 2 gene in Japanese patients detected by a neonatal screening program
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=3263319
retrieved
27 November 2018
Pendred syndrome among patients with congenital hypothyroidism detected by neonatal screening: identification of two novel PDS/SLC26A4 mutations.
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=3263319
retrieved
27 November 2018
Identification of the maturation factor for dual oxidase. Evolution of an eukaryotic operon equivalent
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=3263319
retrieved
27 November 2018
Persistent mild hypothyroidism associated with novel sequence variants of the DUOX2 gene in two siblings
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=3263319
retrieved
27 November 2018
Mutation screening of the thyroid peroxidase gene in a cohort of 55 Portuguese patients with 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=3263319
retrieved
27 November 2018
Distribution and frequencies of PDS (SLC26A4) mutations in Pendred syndrome and nonsyndromic hearing loss associated with enlarged vestibular aqueduct: a unique spectrum of mutations in Japanese
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=3263319
retrieved
27 November 2018
Two decades of screening for congenital hypothyroidism in The Netherlands: TPO gene mutations in total iodide organification defects (an update)
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/21543982
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Monoallelic expression of mutant thyroid peroxidase allele causing total iodide organification defect
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/21543982
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Haplotype analysis reveals founder effects of thyroglobulin gene mutations C1058R and C1977S in Japan
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/21543982
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Missense mutations of dual oxidase 2 (DUOX2) implicated in congenital hypothyroidism have impaired trafficking in cells reconstituted with DUOX2 maturation factor
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/21543982
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Pseudodominant inheritance of goitrous congenital hypothyroidism caused by TPO mutations: molecular and in silico studies
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/21543982
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Identifiers
DOI
10.1097/MOP.0B013E32834726A4
1 reference
stated in
Consolidated OpenCitations Corpus – April 2017
OpenCitations bibliographic resource ID
1682460
OpenCitations bibliographic resource ID
1682460
1 reference
stated in
Consolidated OpenCitations Corpus – April 2017
OpenCitations bibliographic resource ID
1682460
PMCID
3263319
1 reference
stated in
Consolidated OpenCitations Corpus – April 2017
OpenCitations bibliographic resource ID
1682460
PubMed ID
21543982
1 reference
stated in
Consolidated OpenCitations Corpus – April 2017
OpenCitations bibliographic resource ID
1682460
ResearchGate publication ID
51099661
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