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Molecular genetics of congenital hypothyroidism
scientific article
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scholarly article
1 reference
stated in
Europe PubMed Central
PubMed ID
10377281
retrieved
28 July 2017
review article
1 reference
stated in
Europe PubMed Central
title
Molecular genetics of congenital hypothyroidism
(English)
1 reference
stated in
Europe PubMed Central
PubMed ID
10377281
retrieved
28 July 2017
main subject
congenital disorder
0 references
author
Paolo Emidio Macchia
series ordinal
1
object named as
P E Macchia
1 reference
stated in
Europe PubMed Central
PubMed ID
10377281
retrieved
28 July 2017
author name string
M De Felice
series ordinal
2
1 reference
stated in
Europe PubMed Central
PubMed ID
10377281
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28 July 2017
R Di Lauro
series ordinal
3
1 reference
stated in
Europe PubMed Central
PubMed ID
10377281
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28 July 2017
publication date
1 June 1999
1 reference
stated in
Europe PubMed Central
PubMed ID
10377281
retrieved
28 July 2017
published in
Current Opinion in Genetics & Development
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stated in
Europe PubMed Central
PubMed ID
10377281
retrieved
28 July 2017
volume
9
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stated in
Europe PubMed Central
PubMed ID
10377281
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28 July 2017
issue
3
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stated in
Europe PubMed Central
PubMed ID
10377281
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28 July 2017
page(s)
289-294
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stated in
Europe PubMed Central
PubMed ID
10377281
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28 July 2017
cites work
Epidemiology of congenital hypothyroidism
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0959-437X%2899%2980043-4
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7 January 2021
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Thyroid nuclear factor 1 (TTF-1) contains a homeodomain and displays a novel DNA binding specificity
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reference URL
https://api.crossref.org/works/10.1016%2FS0959-437X%2899%2980043-4
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7 January 2021
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TTF-2, a new forkhead protein, shows a temporal expression in the developing thyroid which is consistent with a role in controlling the onset of differentiation
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https://api.crossref.org/works/10.1016%2FS0959-437X%2899%2980043-4
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The T/ebp null mouse: thyroid-specific enhancer-binding protein is essential for the organogenesis of the thyroid, lung, ventral forebrain, and pituitary
1 reference
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reference URL
https://api.crossref.org/works/10.1016%2FS0959-437X%2899%2980043-4
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7 January 2021
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Mutations in the gene encoding thyroid transcription factor-1 (TTF-1) are not a frequent cause of congenital hypothyroidism (CH) with thyroid dysgenesis.
1 reference
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https://api.crossref.org/works/10.1016%2FS0959-437X%2899%2980043-4
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7 January 2021
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Absence of mutations in the gene encoding thyroid transcription factor-1 (TTF-1) in patients with thyroid dysgenesis.
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7 January 2021
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Deletion of thyroid transcription factor-1 gene in an infant with neonatal thyroid dysfunction and respiratory failure
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https://api.crossref.org/works/10.1016%2FS0959-437X%2899%2980043-4
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7 January 2021
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FKHL15, a new human member of the forkhead gene family located on chromosome 9q22
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A mouse model for hereditary thyroid dysgenesis and cleft palate
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https://api.crossref.org/works/10.1016%2FS0959-437X%2899%2980043-4
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7 January 2021
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Mutation of the gene encoding human TTF-2 associated with thyroid agenesis, cleft palate and choanal atresia
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Crossref
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https://api.crossref.org/works/10.1016%2FS0959-437X%2899%2980043-4
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7 January 2021
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Chromosomal localization of seven PAX genes and cloning of a novel family member, PAX-9
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https://api.crossref.org/works/10.1016%2FS0959-437X%2899%2980043-4
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7 January 2021
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Follicular cells of the thyroid gland require Pax8 gene function
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https://api.crossref.org/works/10.1016%2FS0959-437X%2899%2980043-4
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7 January 2021
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PAX8 mutations associated with congenital hypothyroidism caused by thyroid dysgenesis
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reference URL
https://api.crossref.org/works/10.1016%2FS0959-437X%2899%2980043-4
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7 January 2021
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PAX genes
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7 January 2021
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Sequence analysis of the thyrotropin (TSH) receptor gene in congenital primary hypothyroidism associated with TSH unresponsiveness
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https://api.crossref.org/works/10.1016%2FS0959-437X%2899%2980043-4
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7 January 2021
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Assignment of the human thyroid stimulating hormone receptor (TSHR) gene to chromosome 14q31.
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7 January 2021
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Localization of human thyrotropin receptor gene to chromosome region 14q3 by in situ hybridization
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7 January 2021
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Inherited primary hypothyroidism in mice
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https://api.crossref.org/works/10.1016%2FS0959-437X%2899%2980043-4
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7 January 2021
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Brief report: resistance to thyrotropin caused by mutations in the thyrotropin-receptor gene
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https://api.crossref.org/works/10.1016%2FS0959-437X%2899%2980043-4
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7 January 2021
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Familial congenital hypothyroidism due to inactivating mutation of the thyrotropin receptor causing profound hypoplasia of the thyroid gland
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0959-437X%2899%2980043-4
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7 January 2021
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Cloning and characterization of the thyroid iodide transporter
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https://api.crossref.org/works/10.1016%2FS0959-437X%2899%2980043-4
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7 January 2021
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Congenital hypothyroidism caused by a mutation in the Na+/I- symporter
1 reference
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Crossref
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https://api.crossref.org/works/10.1016%2FS0959-437X%2899%2980043-4
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7 January 2021
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Hypothyroidism in a Brazilian kindred due to iodide trapping defect caused by a homozygous mutation in the sodium/iodide symporter gene
1 reference
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https://api.crossref.org/works/10.1016%2FS0959-437X%2899%2980043-4
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7 January 2021
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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
1 reference
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DEAF-MUTISM AND GOITRE
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7 January 2021
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Pendred syndrome is caused by mutations in a putative sulphate transporter gene (PDS)
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Crossref
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Molecular Analysis of the Pds Gene in Pendred Syndrome (Sensorineural Hearing Loss and Goitre)
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https://api.crossref.org/works/10.1016%2FS0959-437X%2899%2980043-4
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A mutation in PDS causes non-syndromic recessive deafness
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Crossref
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https://api.crossref.org/works/10.1016%2FS0959-437X%2899%2980043-4
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7 January 2021
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Two frequent missense mutations in Pendred syndrome
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https://api.crossref.org/works/10.1016%2FS0959-437X%2899%2980043-4
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7 January 2021
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Expression of Hex mRNA in early murine postimplantation embryo development
1 reference
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https://api.crossref.org/works/10.1016%2FS0959-437X%2899%2980043-4
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7 January 2021
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The HNF-3 gene family of transcription factors in mice: gene structure, cDNA sequence, and mRNA distribution
1 reference
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Crossref
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https://api.crossref.org/works/10.1016%2FS0959-437X%2899%2980043-4
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7 January 2021
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Myogenic and morphogenetic defects in the heart tubes of murine embryos lacking the homeo box gene Nkx2-5
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0959-437X%2899%2980043-4
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7 January 2021
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HNF-3 beta is essential for node and notochord formation in mouse development
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0959-437X%2899%2980043-4
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7 January 2021
based on heuristic
inferred from DOI database lookup
The winged-helix transcription factor HNF-3 beta is required for notochord development in the mouse embryo
1 reference
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Crossref
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https://api.crossref.org/works/10.1016%2FS0959-437X%2899%2980043-4
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7 January 2021
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Soluble dominant-negative receptor uncovers essential roles for fibroblast growth factors in multi-organ induction and patterning
1 reference
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Crossref
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https://api.crossref.org/works/10.1016%2FS0959-437X%2899%2980043-4
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7 January 2021
based on heuristic
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Hox group 3 paralogs regulate the development and migration of the thymus, thyroid, and parathyroid glands
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0959-437X%2899%2980043-4
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7 January 2021
based on heuristic
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Identifiers
DOI
10.1016/S0959-437X(99)80043-4
1 reference
stated in
Europe PubMed Central
PubMed ID
10377281
retrieved
28 July 2017
PubMed ID
10377281
1 reference
stated in
Europe PubMed Central
PubMed ID
10377281
retrieved
28 July 2017
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