|
Congenital Hypothyroidism
|
0.900 |
GeneticVariation
|
disease |
CLINVAR |
The Italian screening program for primary congenital hypothyroidism: actions to improve screening, diagnosis, follow-up, and surveillance.
|
23404215 |
2013 |
|
Congenital Hypothyroidism
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Complete TSH resistance due to biallelic LOF TSHR mutations must be suspected in all patients with severe not syndromic CH and severe thyroid hypoplasia diagnosed at birth by neonatal screening.
|
23154162 |
2013 |
|
Congenital Hypothyroidism
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
R450H TSH receptor mutation in congenital hypothyroidism in Taiwanese children.
|
22405933 |
2012 |
|
Congenital Hypothyroidism
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
R450H TSH receptor mutation in congenital hypothyroidism in Taiwanese children.
|
22405933 |
2012 |
|
Congenital Hypothyroidism
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
In familial cases, first, we performed potential linkage analysis of four known genes causing CHNG (TSHR, PAX8, TSHB, and NKX2-5) using microsatellite markers and then examined the presence of mutations in these genes by direct sequencing.
|
22876533 |
2012 |
|
Congenital Hypothyroidism
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
The propositus had CH and he was heterozygous for TSHR p.E34K; his mother, also heterozygous for TSHR p.E34K, did not have CH.
|
21186955 |
2011 |
|
Congenital Hypothyroidism
|
0.900 |
Biomarker
|
disease |
BEFREE |
Molecular screening of the TSH receptor (TSHR) and thyroid peroxidase (TPO) genes in Korean patients with nonsyndromic congenital hypothyroidism.
|
21707688 |
2011 |
|
Congenital Hypothyroidism
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Nonclassic TSH resistance: TSHR mutation carriers with discrepantly high thyroidal iodine uptake.
|
21677043 |
2011 |
|
Congenital Hypothyroidism
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Molecular screening of the TSH receptor (TSHR) and thyroid peroxidase (TPO) genes in Korean patients with nonsyndromic congenital hypothyroidism.
|
21707688 |
2011 |
|
Congenital Hypothyroidism
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
The aim of this study was to investigate the mutation of thyrotropin receptor (TSHR) gene in Chinese children with congenital hypothyroidism (CH). and the hereditary characteristic.
|
21714469 |
2010 |
|
Congenital Hypothyroidism
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
In the present study, mutations of exon 10 of the TSH receptor gene were investigated in Congenital Hypothyroidism patients.
|
21714466 |
2010 |
|
Congenital Hypothyroidism
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Nonsyndromic autosomal recessively inherited nongoitrous congenital hypothyroidism (CHNG) can be caused by mutations in TSHR, PAX8, TSHB and NKX2-5.
|
20718767 |
2010 |
|
Congenital Hypothyroidism
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
The R450H mutation and D727E polymorphism of the thyrotropin receptor gene in a Chinese child with congenital hypothyroidism.
|
21714469 |
2010 |
|
Congenital Hypothyroidism
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Mutations in TSH receptor (TSHR) are notoriously associated with congenital hypothyroidism as well as with non-autoimmune subclinical hypothyroidism, a mild form of TSH resistance that is not as well characterized by diagnostic procedures.
|
19820021 |
2009 |
|
Congenital Hypothyroidism
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
TSHR mutations as a cause of congenital hypothyroidism in Japan: a population-based genetic epidemiology study.
|
19158199 |
2009 |
|
Congenital Hypothyroidism
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
The prevalence of congenital hypothyroidism (CH) associated with mutations in the TSH receptor gene (TSHR) has not been established.
|
19158199 |
2009 |
|
Congenital Hypothyroidism
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
The P27T TSHr variant does not seem to play a functional role in the pathogenesis of CH and should be considered as a polymorphism.
|
18727713 |
2009 |
|
Congenital Hypothyroidism
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Longitudinal evaluation of patients with a homozygous R450H mutation of the TSH receptor gene.
|
19506388 |
2009 |
|
Congenital Hypothyroidism
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Genetic analysis in children with transient thyroid dysfunction or subclinical hypothyroidism detected on neonatal screening.
|
23926367 |
2009 |
|
Congenital Hypothyroidism
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Thyrotropin receptor and thyroid transcription factor-1 genes variant in Chinese children with congenital hypothyroidism.
|
18379122 |
2008 |
|
Congenital Hypothyroidism
|
0.900 |
GeneticVariation
|
disease |
LHGDN |
Seventy-nine and forty-nine Chinese children with CH were enrolled for molecular analysis of the TSHR gene and TTF-1 gene, respectively.
|
18379122 |
2008 |
|
Congenital Hypothyroidism
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
In the present study we propose a method of detection of mutations in the thyrotropin receptor (TSHR) and in the paired box 8 (PAX8) genes that have been proved to be responsible for some forms of CH.
|
18294054 |
2007 |
|
Congenital Hypothyroidism
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
We report a familial case of CH that transmitted as a recessive trait and caused by a novel homozygous nonsense mutation in TSHR with an initial diagnosis of thyroid agenesis hypoplasia.
|
17199441 |
2006 |
|
Congenital Hypothyroidism
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Clinical significance of heterozygous carriers associated with compensated hypothyroidism in R450H, a common inactivating mutation of the thyrotropin receptor gene in Japanese.
|
17526952 |
2006 |
|
Congenital Hypothyroidism
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Subclinical hypothyroidism caused by a mutation of the thyrotropin receptor gene.
|
15693879 |
2005 |