HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1
|
|
0.710 |
CausalMutation
|
CLINVAR |
Next-generation sequencing analysis of TSHR in 384 Chinese subclinical congenital hypothyroidism (CH) and CH patients.
|
27637299 |
2016 |
HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1
|
|
0.710 |
CausalMutation
|
CLINVAR |
R450H TSH receptor mutation in congenital hypothyroidism in Taiwanese children.
|
22405933 |
2012 |
HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1
|
|
0.710 |
CausalMutation
|
CLINVAR |
TSHR is the main causative locus in autosomal recessively inherited thyroid dysgenesis.
|
22876533 |
2012 |
HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1
|
|
0.710 |
CausalMutation
|
CLINVAR |
Molecular screening of the TSH receptor (TSHR) and thyroid peroxidase (TPO) genes in Korean patients with nonsyndromic congenital hypothyroidism.
|
21707688 |
2011 |
HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1
|
|
0.710 |
CausalMutation
|
CLINVAR |
Nonclassic TSH resistance: TSHR mutation carriers with discrepantly high thyroidal iodine uptake.
|
21677043 |
2011 |
HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1
|
|
0.710 |
CausalMutation
|
CLINVAR |
The R450H mutation and D727E polymorphism of the thyrotropin receptor gene in a Chinese child with congenital hypothyroidism.
|
21714469 |
2010 |
HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1
|
|
0.710 |
CausalMutation
|
CLINVAR |
Longitudinal evaluation of patients with a homozygous R450H mutation of the TSH receptor gene.
|
19506388 |
2009 |
HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1
|
|
0.710 |
GeneticVariation
|
BEFREE |
These observations suggest that the R450H mutation is a commonly observed TSH receptor mutation in patients with TSH resistance</span> in Japan.
|
16756469 |
2006 |
HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1
|
|
0.710 |
CausalMutation
|
CLINVAR |
Subclinical hypothyroidism caused by a mutation of the thyrotropin receptor gene.
|
15693879 |
2005 |
HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1
|
|
0.710 |
CausalMutation
|
CLINVAR |
Novel inactivating missense mutations in the thyrotropin receptor gene in Japanese children with resistance to thyrotropin.
|
11442002 |
2001 |