(Q37290918)

English

2012 European thyroid association guidelines for the management of familial and persistent sporadic non-autoimmune hyperthyroidism caused by thyroid-stimulating hormone receptor germline mutations

scientific article published on 04 October 2012

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scholarly article

1 reference

Europe PubMed Central

PMC publication ID

19 August 2017

2012 European thyroid association guidelines for the management of familial and persistent sporadic non-autoimmune hyperthyroidism caused by thyroid-stimulating hormone receptor germline mutations (English)

1 reference

Europe PubMed Central

PMC publication ID

19 August 2017

object named as

B Vaidya

3

0 references

object named as

L Persani

4

0 references

author name string

R Paschke

1

1 reference

Europe PubMed Central

PMC publication ID

19 August 2017

M Niedziela

2

1 reference

Europe PubMed Central

PMC publication ID

19 August 2017

B Rapoport

5

1 reference

Europe PubMed Central

PMC publication ID

19 August 2017

J Leclere

6

1 reference

Europe PubMed Central

PMC publication ID

19 August 2017

publication date

4 October 2012

1 reference

Europe PubMed Central

PMC publication ID

19 August 2017

European thyroid journal : official journal of the European Thyroid Association

1 reference

Europe PubMed Central

PMC publication ID

19 August 2017

1

1 reference

Europe PubMed Central

PMC publication ID

19 August 2017

3

1 reference

Europe PubMed Central

PMC publication ID

19 August 2017

142-147

1 reference

Europe PubMed Central

PMC publication ID

19 August 2017

Sporadic nonautoimmune neonatal hyperthyroidism due to A623V germline mutation in the thyrotropin receptor gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3821481

6 September 2017

Shared sporadic and somatic thyrotropin receptor mutations display more active in vitro activities than familial thyrotropin receptor mutations.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3821481

6 September 2017

Subclinical Nonautoimmune Hyperthyroidism in a Family Segregates with a Thyrotropin Receptor Mutation with Weakly Increased Constitutive Activity

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3821481

6 September 2017

Genetic hyperthyroidism: hyperthyroidism due to activating TSHR mutations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3821481

6 September 2017

Genetics and phenomics of inherited and sporadic non-autoimmune hyperthyroidism.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3821481

6 September 2017

Lack of consistent association of thyrotropin receptor mutations in vitro activity with the clinical course of patients with sporadic non-autoimmune hyperthyroidism

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3821481

6 September 2017

Congenital neonatal hyperthyroidism caused by germline mutations in the TSH receptor gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3821481

6 September 2017

Persistent neonatal thyrotoxicosis in a neonate secondary to a rare thyroid-stimulating hormone receptor activating mutation: case report and literature review

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3821481

6 September 2017

Grading quality of evidence and strength of recommendations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3821481

6 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3821481

6 September 2017

The TSH receptor and its role in thyroid disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3821481

6 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3821481

6 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3821481

6 September 2017

Lack of in vitro constitutive activity for four previously reported TSH receptor mutations identified in patients with nonautoimmune hyperthyroidism and hot thyroid carcinomas

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3821481

14 September 2017

Hyperthyroidism caused by a germline activating mutation of the thyrotropin receptor gene: difficulties in diagnosis and therapy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3821481

14 September 2017

Cases of borderline in vitro constitutive thyrotropin receptor activity: how to decide whether a thyrotropin receptor mutation is constitutively active or not?

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3821481

14 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3821481

14 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3821481

28 September 2017

Molecular description of non-autoimmune hyperthyroidism at a neonate caused by a new thyrotropin receptor germline mutation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3821481

26 June 2018

Prolonged inappropriate TSH suppression during hypothyroidism after thyroid ablation in a patient with nonautoimmune familial hyperthyroidism

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3821481

26 June 2018

Current standards, variations, and pitfalls for the determination of constitutive TSHR activity in vitro

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3821481

26 June 2018

Repulsive separation of the cytoplasmic ends of transmembrane helices 3 and 6 is linked to receptor activation in a novel thyrotropin receptor mutant (M626I).

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3821481

26 June 2018

TSH receptor mutation V509A causes familial hyperthyroidism by release of interhelical constraints between transmembrane helices TMH3 and TMH5.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3821481

26 June 2018

The thyrotropin receptor in thyroid diseases.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3821481

26 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3821481

26 June 2018

Late manifestation of subclinical hyperthyroidism after goitrogenesis in an index patient with a N670S TSH receptor germline mutation masquerading as TSH receptor antibody negative Graves' disease.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3821481

3 September 2018

A new phenotype of nongoitrous and nonautoimmune hyperthyroidism caused by a heterozygous thyrotropin receptor mutation in transmembrane helix 6.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3821481

3 September 2018

Expanding clinical spectrum of non-autoimmune hyperthyroidism due to an activating germline mutation, p.M453T, in the thyrotropin receptor gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3821481

3 September 2018

Grades of recommendation for antithrombotic agents: American College of Chest Physicians Evidence-Based Clinical Practice Guidelines (8th Edition).

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3821481

3 September 2018

Multiple relapses of hyperthyroidism after thyroid surgeries in a patient with long term follow-up of sporadic non-autoimmune hyperthyroidism

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3821481

3 September 2018

A novel TSHR gene mutation (Ile691Phe) in a Chinese family causing autosomal dominant non-autoimmune hyperthyroidism

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3821481

3 September 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3821481

3 September 2018

A novel thyrotropin receptor germline mutation (Asp617Tyr) causing hereditary hyperthyroidism

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3821481

3 September 2018

A new case of familial nonautoimmune hyperthyroidism caused by the M463V mutation in the TSH receptor with anticipation of the disease across generations: a possible role of iodine supplementation.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3821481

3 September 2018

Sporadic congenital hyperthyroidism due to a germline mutation in the thyrotropin receptor gene (Leu 512 Gln) in a Japanese patient.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3821481

3 September 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3821481

3 September 2018

Autosomal-dominant non-autoimmune hyperthyroidism presenting with neuromuscular symptoms

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3821481

3 September 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3821481

3 September 2018

Similarities and differences in the phenotype of members of an Italian family with hereditary non-autoimmune hyperthyroidism associated with an activating TSH receptor germline mutation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3821481

3 September 2018

An activating mutation of the thyrotropin receptor gene in hereditary non-autoimmune hyperthyroidism.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3821481

3 September 2018

The first activating TSH receptor mutation in transmembrane domain 1 identified in a family with nonautoimmune hyperthyroidism

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3821481

3 September 2018

Congenital nonautoimmune hyperthyroidism in a nonidentical twin caused by a sporadic germline mutation in the thyrotropin receptor gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3821481

20 October 2018

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/24783013

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A germline mutation of the thyrotropin receptor gene associated with thyrotoxicosis and mitral valve prolapse in a Chinese family

1 reference

https://pubmed.ncbi.nlm.nih.gov/24783013

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Novel TSHR germline mutation (Met463Val) masquerading as Graves' disease in a large Welsh kindred with hyperthyroidism

1 reference

https://pubmed.ncbi.nlm.nih.gov/24783013

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Sporadic nonautoimmune congenital hyperthyroidism due to a strong activating mutation of the thyrotropin receptor gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/24783013

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A new silent germline mutation of the TSH receptor: coexpression in a hyperthyroid family member with a second activating somatic mutation

1 reference

https://pubmed.ncbi.nlm.nih.gov/24783013

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/24783013

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Familial hyperthyroidism without evidence of autoimmunity

1 reference

https://pubmed.ncbi.nlm.nih.gov/24783013

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/24783013

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A Japanese family with familial nonautoimmune hyperthyroidism with a novel mutation (Asn406Ser) in extracellular domain of thyrotrophin receptor

1 reference

https://pubmed.ncbi.nlm.nih.gov/24783013

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A novel thyrotropin receptor mutation in an infant with severe thyrotoxicosis

1 reference

https://pubmed.ncbi.nlm.nih.gov/24783013

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/24783013

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Subclinical hyperthyroidism due to a thyrotropin receptor (TSHR) gene mutation (S505R)

1 reference

https://pubmed.ncbi.nlm.nih.gov/24783013

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/24783013

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/24783013

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1159/000342982

1 reference

Europe PubMed Central

PMC publication ID

19 August 2017

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

19 August 2017

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

19 August 2017

ResearchGate publication ID

0 references

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