Deficiency of iodide peroxidase (disorder)
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
High prevalence of DUOX2 mutations in Japanese patients with permanent congenital hypothyroidism or transient hypothyroidism.
|
27166716 |
2016 |
Deficiency of iodide peroxidase (disorder)
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Mutations in the genes for thyroglobulin and thyroid peroxidase cause thyroid dyshormonogenesis and autosomal-recessive intellectual disability.
|
27305979 |
2016 |
Deficiency of iodide peroxidase (disorder)
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Detection of Novel Gene Variants Associated with Congenital Hypothyroidism in a Finnish Patient Cohort.
|
27373559 |
2016 |
Deficiency of iodide peroxidase (disorder)
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
A Homozygous TPO Gene Duplication (c.1184_1187dup4) Causes Congenital Hypothyroidism in Three Siblings Born to a Consanguineous Family.
|
27617131 |
2015 |
Deficiency of iodide peroxidase (disorder)
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Detection of heterozygous c.1708C>T and c.1978C>G thyroid peroxidase (TPO) mutations in Iraqi patients with toxic and nontoxic goiter.
|
24482635 |
2014 |
Deficiency of iodide peroxidase (disorder)
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
One Base Deletion (c.2422delT) in the TPO Gene Causes Severe Congenital Hypothyroidism.
|
25241611 |
2014 |
Deficiency of iodide peroxidase (disorder)
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Congenital goitrous primary hypothyroidism in two German families caused by novel thyroid peroxidase (TPO) gene mutations.
|
23512414 |
2013 |
Deficiency of iodide peroxidase (disorder)
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Thyroid dyshormonogenesis is mainly caused by TPO mutations in consanguineous community.
|
23236987 |
2013 |
Deficiency of iodide peroxidase (disorder)
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Pseudodominant inheritance of goitrous congenital hypothyroidism caused by TPO mutations: molecular and in silico studies.
|
18029453 |
2008 |
Deficiency of iodide peroxidase (disorder)
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
High prevalence of thyroid peroxidase gene mutations in patients with thyroid dyshormonogenesis.
|
17468186 |
2007 |
Deficiency of iodide peroxidase (disorder)
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Goitrous congenital hypothyroidism and hearing impairment associated with mutations in the TPO and SLC26A4/PDS genes.
|
16684826 |
2006 |
Deficiency of iodide peroxidase (disorder)
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Two novel mutations in the thyroid peroxidase gene with goitrous hypothyroidism.
|
16284446 |
2005 |
Deficiency of iodide peroxidase (disorder)
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Mutation screening of the thyroid peroxidase gene in a cohort of 55 Portuguese patients with congenital hypothyroidism.
|
15745925 |
2005 |
Deficiency of iodide peroxidase (disorder)
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Five novel inactivating mutations in the thyroid peroxidase gene responsible for congenital goiter and iodide organification defect.
|
12938097 |
2003 |
Deficiency of iodide peroxidase (disorder)
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Partial iodide organification defect caused by a novel mutation of the thyroid peroxidase gene in three siblings.
|
12864797 |
2003 |
Deficiency of iodide peroxidase (disorder)
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Monoallelic expression of mutant thyroid peroxidase allele causing total iodide organification defect.
|
12843174 |
2003 |
Deficiency of iodide peroxidase (disorder)
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Thyroperoxidase gene mutations in congenital goitrous hypothyroidism with total and partial iodide organification defect.
|
14751036 |
2003 |
Deficiency of iodide peroxidase (disorder)
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Mutation analysis of thyroid peroxidase gene in Chinese patients with total iodide organification defect: identification of five novel mutations.
|
11874711 |
2002 |
Deficiency of iodide peroxidase (disorder)
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
High prevalence of a novel mutation (2268 insT) of the thyroid peroxidase gene in Taiwanese patients with total iodide organification defect, and evidence for a founder effect.
|
12213873 |
2002 |
Deficiency of iodide peroxidase (disorder)
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Two novel missense mutations in the thyroid peroxidase gene, R665W and G771R, result in a localization defect and cause congenital hypothyroidism.
|
11916616 |
2002 |
Deficiency of iodide peroxidase (disorder)
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Genetics of specific phenotypes of congenital hypothyroidism: a population-based approach.
|
12490071 |
2002 |
Deficiency of iodide peroxidase (disorder)
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Two novel missense mutations in the thyroid peroxidase gene, R665W and G771R, result in a localization defect and cause congenital hypothyroidism.
|
11916616 |
2002 |
Deficiency of iodide peroxidase (disorder)
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Novel mutations of the thyroid peroxidase gene in patients with permanent congenital hypothyroidism.
|
11415848 |
2001 |
Deficiency of iodide peroxidase (disorder)
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Two decades of screening for congenital hypothyroidism in The Netherlands: TPO gene mutations in total iodide organification defects (an update).
|
11061528 |
2000 |
Deficiency of iodide peroxidase (disorder)
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Two decades of screening for congenital hypothyroidism in The Netherlands: TPO gene mutations in total iodide organification defects (an update).
|
11061528 |
2000 |