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Iodide Transport Defect
National Institutes of Health
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Related topics
Related topics
5 relations
Endocrine system
Head and neck structure
Neck
Thyroid Gland
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Papers overview
Semantic Scholar uses AI to extract papers important to this topic.
2019
2019
Novel Sodium/Iodide Symporter Compound Heterozygous Pathogenic Variants Causing Dyshormonogenic Congenital Hypothyroidism.
Mariano Martín
,
Carlos Eduardo Bernal Barquero
,
+5 authors
J. Nicola
Thyroid
2019
Corpus ID: 162169958
BACKGROUND Iodide transport defect (ITD) is an autosomal recessive disorder caused by deficient iodide accumulation into the…
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2016
2016
Iodide Transport Defect and Breast Milk Iodine
T. Mizokami
,
S. Fukata
,
+5 authors
J. Tajiri
European Thyroid Journal
2016
Corpus ID: 35341724
Background: Iodide transport defect (ITD) is a dyshormonogenetic congenital hypothyroidism caused by sodium/iodide symporter (NIS…
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2011
2011
Iodide transport defect: functional characterization of a novel mutation in the Na+/I- symporter 5'-untranslated region in a patient with congenital hypothyroidism.
J. Nicola
,
Magalí Nazar
,
+7 authors
A. Masini-Repiso
Journal of Clinical Endocrinology and Metabolism
2011
Corpus ID: 28703876
CONTEXT Iodide transport defect (ITD) is an autosomal recessive disorder caused by impaired Na(+)/I(-) symporter (NIS)-mediated…
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Review
2010
Review
2010
Genetics and phenomics of hypothyroidism and goiter due to NIS mutations
C. Spitzweg
,
J. Morris
Molecular and Cellular Endocrinology
2010
Corpus ID: 45566506
2010
2010
Diagnosis of iodide transport defect: do we need to measure the saliva/serum radioactive iodide ratio to diagnose iodide transport defect?
S. Fukata
,
A. Hishinuma
,
N. Nakatake
,
J. Tajiri
Thyroid
2010
Corpus ID: 25490924
BACKGROUND Iodide transport defect (ITD) is an infrequent condition associated with congenital dyshormonogenetic goiter due to…
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2009
2009
Congenital Hypothyroidism Caused by a PAX8 Gene Mutation Manifested as Sodium/Iodide Symporter Gene Defect
W. Jo
,
K. Ishizu
,
K. Fujieda
,
T. Tajima
Journal of Thyroid Research
2009
Corpus ID: 17952335
Loss-of-function mutations of the PAX8 gene are considered to mainly cause congenital hypothyroidism (CH) due to thyroid…
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Review
2006
Review
2006
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.
G. Szinnai
,
S. Kosugi
,
+4 authors
M. Polak
Journal of Clinical Endocrinology and Metabolism
2006
Corpus ID: 9791932
CONTEXT Iodide transport defect (ITD) is an autosomal recessive disorder resulting in varying degrees of congenital…
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Highly Cited
2004
Highly Cited
2004
The Q267E mutation in the sodium/iodide symporter (NIS) causes congenital iodide transport defect (ITD) by decreasing the NIS turnover number
A. De la Vieja
,
C. Ginter
,
N. Carrasco
Journal of Cell Science
2004
Corpus ID: 12690060
The Na+/I- symporter (NIS) is a key plasma membrane glycoprotein that mediates active iodide (I-) transport in the thyroid and…
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2003
2003
Congenital hypothyroidism due to a new deletion in the sodium/iodide symporter protein
M. Tonacchera
,
P. Agretti
,
+12 authors
A. Pinchera
Clinical Endocrinology
2003
Corpus ID: 21848617
objective Iodide transport defect (ITD) is a rare disorder characterised by an inability of the thyroid to maintain an iodide…
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Highly Cited
1998
Highly Cited
1998
Recurrent T354P mutation of the Na+/I- symporter in patients with iodide transport defect.
H. Fujiwara
,
K. Tatsumi
,
+5 authors
N. Amino
Journal of Clinical Endocrinology and Metabolism
1998
Corpus ID: 23370865
Iodide transport defect (ITD) is a rare disorder causing congenital hypothyroidism. We previously reported that homozygous T354P…
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