Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Kongenitale Hypothyreose ohne Struma 1

Die kongenitale Hypothyreose ohne Struma 1 ist eine autosomal rezessive Erkrankung, die durch Mutationen im TSHR-Gen ausgelöst wird.

Gliederung

Kongenitale Hypothyreose ohne Struma
Kongenitale Hypothyreose ohne Struma 1
TSHR
Kongenitale Hypothyreose ohne Struma 2
Kongenitale Hypothyreose ohne Struma 3
Kongenitale Hypothyreose ohne Struma 4
Kongenitale Hypothyreose ohne Struma 5
Kongenitale Hypothyreose ohne Struma 6

Referenzen:

1.

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

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2.

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

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3.

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

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4.

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

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5.

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

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6.

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

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7.

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

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8.

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

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9.

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

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10.

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

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11.

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

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12.

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

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13.

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

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14.

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

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15.

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

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16.

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

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17.

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

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18.

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

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19.

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

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20.

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

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21.

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.

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