(Q46823309)

25 December 2017

title

A family with a novel TSH receptor activating germline mutation (p.Ala485Val). (English)

1 reference

25 December 2017

Sian Ellard

4

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Sabine Costagliola

7

object named as

Sabine Costagliola

1 reference

25 December 2017

Gilbert Vassart

6

object named as

Gilbert Vassart

1 reference

25 December 2017

author name string

Sema Akcurin

1

1 reference

25 December 2017

Doga Turkkahraman

2

1 reference

25 December 2017

Carolyn Tysoe

3

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25 December 2017

Anne De Leener

5

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25 December 2017

publication date

4 January 2008

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25 December 2017

European Journal of Pediatrics

published in

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25 December 2017

volume

167

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25 December 2017

issue

11

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25 December 2017

page(s)

1231-1237

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25 December 2017

https://api.crossref.org/works/10.1007%2FS00431-007-0659-9

1 reference

Constitutively active germline mutation of the thyrotropin receptor gene as a cause of congenital hyperthyroidism

21 January 2018

1 reference

12 December 2020

Premature birth and low birth weight associated with nonautoimmune hyperthyroidism due to an activating thyrotropin receptor gene mutation

1 reference

12 December 2020

Long-term follow-Up of an infant with thyrotoxicosis due to germline mutation of the TSH receptor gene (Met453Thr)

1 reference

12 December 2020

Analysis of haematopoietic chimaerism by quantitative real-time polymerase chain reaction

1 reference

12 December 2020

Novel thyrotropin receptor germline mutation (Ile568Val) in a Saxonian family with hereditary nonautoimmune hyperthyroidism

1 reference

12 December 2020

Familial hyperthyroidism without evidence of autoimmunity

1 reference

12 December 2020

A Phe 486 thyrotropin receptor mutation in an autonomously functioning follicular carcinoma that was causing hyperthyroidism

1 reference

12 December 2020

Brief report: congenital hyperthyroidism caused by a mutation in the thyrotropin-receptor gene

1 reference

12 December 2020

Glycoprotein hormone receptors: determinants in leucine-rich repeats responsible for ligand specificity

1 reference

12 December 2020

Activation of the cAMP pathway by the TSH receptor involves switching of the ectodomain from a tethered inverse agonist to an agonist

1 reference

12 December 2020

Somatic and germline mutations of the TSH receptor and thyroid diseases

1 reference

12 December 2020

Production of bioactive amino-terminal domain of the thyrotropin receptor via insertion in the plasma membrane by a glycosylphosphatidylinositol anchor

1 reference

12 December 2020

The thyrotropin receptor mutation database: update 2003

1 reference

12 December 2020

A neomutation of the thyroid-stimulating hormone receptor in a severe neonatal hyperthyroidism

1 reference

12 December 2020

Biological activity of activating thyrotrophin receptor mutants: modulation by iodide.

1 reference

12 December 2020

Long-term carbimazole treatment of neonatal nonautoimmune hyperthyroidism due to a new activating TSH receptor gene mutation (Ala428Val).

1 reference

12 December 2020

A versatile vector for gene and oligonucleotide transfer into cells in culture and in vivo: polyethylenimine

1 reference

12 December 2020

Biological activity of activating thyroid-stimulating hormone receptor mutants depends on the cellular context

1 reference

12 December 2020

Identification of a new thyrotropin receptor germline mutation (Leu629Phe) in a family with neonatal onset of autosomal dominant nonautoimmune hyperthyroidism

1 reference

12 December 2020

Sporadic congenital hyperthyroidism due to a spontaneous germline mutation in the thyrotropin receptor gene

1 reference

12 December 2020

Somatic mutations causing constitutive activity of the thyrotropin receptor are the major cause of hyperfunctioning thyroid adenomas: identification of additional mutations activating both the cyclic adenosine 3',5'-monophosphate and inositol phosph

1 reference

12 December 2020

Germline mutations in the thyrotropin receptor gene cause non-autoimmune autosomal dominant hyperthyroidism

1 reference

12 December 2020

Variable phenotype associated with Ser505Asn-activating thyrotropin-receptor germline mutation

1 reference

12 December 2020

Severe congenital hyperthyroidism caused by a germ-line neo mutation in the extracellular portion of the thyrotropin receptor

1 reference

12 December 2020

A novel germline mutation in the TSH receptor gene causes non-autoimmune autosomal dominant hyperthyroidism

1 reference

12 December 2020

Functional characteristics of three new germline mutations of the thyrotropin receptor gene causing autosomal dominant toxic thyroid hyperplasia

1 reference

12 December 2020

Somatic and germline mutations of the TSH receptor gene in thyroid diseases

1 reference

12 December 2020

A novel activating mutation in transmembrane helix 6 of the thyrotropin receptor as cause of hereditary nonautoimmune hyperthyroidism.

1 reference

12 December 2020

10.1007/S00431-007-0659-9

Identifiers

DOI

1 reference

25 December 2017

1 reference

25 December 2017