Condition: HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1


rs189261858 in LOC101928462;TSHR gene and HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1 PMID 21714469 2010 The R450H mutation and D727E polymorphism of the thyrotropin receptor gene in a Chinese child with congenital hypothyroidism.

PMID 19506388 2009 Longitudinal evaluation of patients with a homozygous R450H mutation of the TSH receptor gene.

PMID 15693879 2005 Subclinical hypothyroidism caused by a mutation of the thyrotropin receptor gene.

PMID 27637299 2016 Next-generation sequencing analysis of TSHR in 384 Chinese subclinical congenital hypothyroidism (CH) and CH patients.

PMID 11442002 2001 Novel inactivating missense mutations in the thyrotropin receptor gene in Japanese children with resistance to thyrotropin.

PMID 22405933 2012 R450H TSH receptor mutation in congenital hypothyroidism in Taiwanese children.

PMID 21707688 2011 Molecular screening of the TSH receptor (TSHR) and thyroid peroxidase (TPO) genes in Korean patients with nonsyndromic congenital hypothyroidism.

PMID 22876533 2012 TSHR is the main causative locus in autosomal recessively inherited thyroid dysgenesis.

PMID 21677043 2011 Nonclassic TSH resistance: TSHR mutation carriers with discrepantly high thyroidal iodine uptake.

rs121908863 in TSHR;LOC101928462 gene and HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1 PMID 9185526 1997 Familial congenital hypothyroidism due to inactivating mutation of the thyrotropin receptor causing profound hypoplasia of the thyroid gland.

PMID 7528344 1995 Brief report: resistance to thyrotropin caused by mutations in the thyrotropin-receptor gene.

PMID 10720030 2000 Congenital hypothyroidism with impaired thyroid response to thyrotropin (TSH) and absent circulating thyroglobulin: evidence for a new inactivating mutation of the TSH receptor gene.

PMID 11095460 2000 A novel mutation in the thyrotropin (TSH) receptor gene causing loss of TSH binding but constitutive receptor activation in a family with resistance to TSH.

PMID 12050212 2002 Germline mutations of TSH receptor gene as cause of nonautoimmune subclinical hypothyroidism.

PMID 14725684 2004 Congenital hypothyroidism and apparent athyreosis with compound heterozygosity or compensated hypothyroidism with probable hemizygosity for inactivating mutations of the TSH receptor.

PMID 9100579 1997 Two novel mutations in the thyrotropin (TSH) receptor gene in a child with resistance to TSH.

PMID 9329388 1997 Mutations of the human thyrotropin receptor gene causing thyroid hypoplasia and persistent congenital hypothyroidism.

PMID 8954020 1996 Four families with loss of function mutations of the thyrotropin receptor.

PMID 15531543 2004 Low prevalence of thyrotropin receptor mutations in a large series of subjects with sporadic and familial nonautoimmune subclinical hypothyroidism.

PMID 11442002 2001 Novel inactivating missense mutations in the thyrotropin receptor gene in Japanese children with resistance to thyrotropin.

PMID 25978107 2015 Loss-of-Function Variants in a Hungarian Cohort Reveal Structural Insights on TSH Receptor Maturation and Signaling.

PMID 12629076 2003 The W546X mutation of the thyrotropin receptor gene: potential major contributor to thyroid dysfunction in a Caucasian population.

PMID 20718767 2010 Novel TSHR mutations in consanguineous families with congenital nongoitrous hypothyroidism.

PMID 27255745 2016 Poorly Controlled Congenital Hypothyroidism due to an Underlying Allgrove Syndrome.

PMID 22876533 2012 TSHR is the main causative locus in autosomal recessively inherited thyroid dysgenesis.