(Q44144516)

English

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

scientific article published in September 2002

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

30 November 2017

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 (English)

1 reference

Europe PubMed Central

PubMed publication ID

30 November 2017

Eusebio Chiefari

2

1 reference

Europe PubMed Central

PubMed publication ID

30 November 2017

7

1 reference

Europe PubMed Central

PubMed publication ID

30 November 2017

author name string

F Arturi

1

1 reference

Europe PubMed Central

PubMed publication ID

30 November 2017

S Tumino

3

1 reference

Europe PubMed Central

PubMed publication ID

30 November 2017

D Russo

4

1 reference

Europe PubMed Central

PubMed publication ID

30 November 2017

S Squatrito

5

1 reference

Europe PubMed Central

PubMed publication ID

30 November 2017

G Chazenbalk

6

1 reference

Europe PubMed Central

PubMed publication ID

30 November 2017

B Rapoport

8

1 reference

Europe PubMed Central

PubMed publication ID

30 November 2017

S Filetti

9

1 reference

Europe PubMed Central

PubMed publication ID

30 November 2017

publication date

1 September 2002

1 reference

Europe PubMed Central

PubMed publication ID

30 November 2017

Journal of Endocrinological Investigation

1 reference

Europe PubMed Central

PubMed publication ID

30 November 2017

25

1 reference

Europe PubMed Central

PubMed publication ID

30 November 2017

8

1 reference

Europe PubMed Central

PubMed publication ID

30 November 2017

696-701

1 reference

Europe PubMed Central

PubMed publication ID

30 November 2017

Clinical consequences of activating germline mutations of TSH receptor, the concept of toxic hyperplasia

1 reference

https://api.crossref.org/works/10.1007%2FBF03345103

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1007%2FBF03345103

21 January 2018

Constitutively activating TSH-receptor mutations as a molecular cause of non-autoimmune hyperthyroidism in childhood.

1 reference

https://api.crossref.org/works/10.1007%2FBF03345103

21 January 2018

High-efficiency transformation of mammalian cells by plasmid DNA

1 reference

https://api.crossref.org/works/10.1007%2FBF03345103

21 January 2018

Molecular insights into TSH receptor abnormality and thyroid disease

1 reference

https://api.crossref.org/works/10.1007%2FBF03345103

21 January 2018

Thyroid hyperfunctioning adenomas with and without Gsp/TSH receptor mutations show similar clinical features.

1 reference

https://api.crossref.org/works/10.1007%2FBF03345103

21 January 2018

Sodium/iodide symporter: a key transport system in thyroid cancer cell metabolism

1 reference

https://api.crossref.org/works/10.1007%2FBF03345103

21 January 2018

A simple, rapid, and sensitive DNA assay procedure

1 reference

https://api.crossref.org/works/10.1007%2FBF03345103

21 January 2018

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/12240901

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The biological activity of bovine and human thyrotropin is differently affected by trypsin treatment of human thyroid cells: thyroid-stimulating antibody is related to human thyrotropin

1 reference

https://pubmed.ncbi.nlm.nih.gov/12240901

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/12240901

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A Val 677 activating mutation of the thyrotropin receptor in a Hürthle cell thyroid carcinoma associated with thyrotoxicosis

1 reference

https://pubmed.ncbi.nlm.nih.gov/12240901

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

TSH Receptor Mutations and Thyroid Disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/12240901

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Structural studies of the thyrotropin receptor and Gs alpha in human thyroid cancers: low prevalence of mutations predicts infrequent involvement in malignant transformation

1 reference

https://pubmed.ncbi.nlm.nih.gov/12240901

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Detection of an activating mutation of the thyrotropin receptor in a case of an autonomously hyperfunctioning thyroid insular carcinoma

1 reference

https://pubmed.ncbi.nlm.nih.gov/12240901

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mutations of the TSH receptor as cause of congenital hyperthyroidism

1 reference

https://pubmed.ncbi.nlm.nih.gov/12240901

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/12240901

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/12240901

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Somatic and germline mutations of the TSH receptor and thyroid diseases

1 reference

https://pubmed.ncbi.nlm.nih.gov/12240901

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Genetic alterations in thyroid hyperfunctioning adenomas

1 reference

https://pubmed.ncbi.nlm.nih.gov/12240901

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

TSH receptor and Gs-alpha gene mutations in the pathogenesis of toxic thyroid adenomas--a note of caution

1 reference

https://pubmed.ncbi.nlm.nih.gov/12240901

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/12240901

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Composite structure of the human thyrotropin receptor gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/12240901

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/12240901

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/12240901

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/12240901

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1007/BF03345103

1 reference

Europe PubMed Central

PubMed publication ID

30 November 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

30 November 2017

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