Hypothyroidism

Carré A et al. (2007) Polymorphic length of FOXE1 alanine stretch: evidence for genetic susceptibility to thyroid dysgenesis.

Denny JC et al. (2011) Variants near FOXE1 are associated with hypothyroidism and other thyroid conditions: using electronic medical records for genome- and phenome-wide studies.

Kempers MJ et al. (2009) Morphological abnormalities in children with thyroidal congenital hypothyroidism.

De Felice M et al. (2004) Thyroid development and its disorders: genetics and molecular mechanisms.

Xie J et al. (1997) Resistance to thyrotropin (TSH) in three families is not associated with mutations in the TSH receptor or TSH.

Ahlbom BD et al. (1997) Genetic and linkage analysis of familial congenital hypothyroidism: exclusion of linkage to the TSH receptor gene.

Takamatsu J et al. (1993) Familial unresponsiveness to thyrotropin by autosomal recessive inheritance.

Stein SA et al. (1994) Identification of a point mutation in the thyrotropin receptor of the hyt/hyt hypothyroid mouse.

Takeshita A et al. (1994) Sequence analysis of the thyrotropin (TSH) receptor gene in congenital primary hypothyroidism associated with TSH unresponsiveness.

Beamer WJ et al. (1981) Inherited primary hypothyroidism in mice.

Codaccioni JL et al. (1980) Congenital hypothyroidism associated with thyrotropin unresponsiveness and thyroid cell membrane alterations.

Marx SJ et al. (1971) Thyroid dysfunction in pseudohypoparathyroidism.

Stanbury JB et al. (1968) Congenital hypothyroidism with impaired thyroid response to thyrotropin.

Levine MA et al. (1985) Infantile hypothyroidism in two sibs: an unusual presentation of pseudohypoparathyroidism type Ia.

Medeiros-Neto GA et al. (1979) Imparied cyclic-AMP response to thyrotrophin in congenital hypothyroidism with thyroglobulin deficiency.

Biebermann H et al. (1997) Mutations of the human thyrotropin receptor gene causing thyroid hypoplasia and persistent congenital hypothyroidism.

Abramowicz MJ et al. (1997) Familial congenital hypothyroidism due to inactivating mutation of the thyrotropin receptor causing profound hypoplasia of the thyroid gland.

Clifton-Bligh RJ et al. (1997) Two novel mutations in the thyrotropin (TSH) receptor gene in a child with resistance to TSH.

de Roux N et al. (1996) Four families with loss of function mutations of the thyrotropin receptor.

Paschke R et al. (1997) The thyrotropin receptor in thyroid diseases.

Park SM et al. (2005) Genetics of congenital hypothyroidism.

Orphanet article

Wikipedia article