309 related articles for article (PubMed ID: 16060907)
1. Thyrotropin receptor gene mutations and TSH resistance: variable expressivity in the heterozygotes.
Camilot M; Teofoli F; Gandini A; Franceschi R; Rapa A; Corrias A; Bona G; Radetti G; Tatò L
Clin Endocrinol (Oxf); 2005 Aug; 63(2):146-51. PubMed ID: 16060907
[TBL] [Abstract][Full Text] [Related]
2. Functional studies of new TSH receptor (TSHr) mutations identified in patients affected by hypothyroidism or isolated hyperthyrotrophinaemia.
De Marco G; Agretti P; Camilot M; Teofoli F; Tatò L; Vitti P; Pinchera A; Tonacchera M
Clin Endocrinol (Oxf); 2009 Feb; 70(2):335-8. PubMed ID: 18727713
[TBL] [Abstract][Full Text] [Related]
3. Mild congenital primary hypothyroidism in a Turkish family caused by a homozygous missense thyrotropin receptor (TSHR) gene mutation (A593 V).
Fricke-Otto S; Pfarr N; Mühlenberg R; Pohlenz J
Exp Clin Endocrinol Diabetes; 2005 Dec; 113(10):582-5. PubMed ID: 16320156
[TBL] [Abstract][Full Text] [Related]
4. Germline mutations of TSH receptor gene as cause of nonautoimmune subclinical hypothyroidism.
Alberti L; Proverbio MC; Costagliola S; Romoli R; Boldrighini B; Vigone MC; Weber G; Chiumello G; Beck-Peccoz P; Persani L
J Clin Endocrinol Metab; 2002 Jun; 87(6):2549-55. PubMed ID: 12050212
[TBL] [Abstract][Full Text] [Related]
5. Identification of TSH receptor mutations in three families with resistance to TSH.
Tonacchera M; Di Cosmo C; De Marco G; Agretti P; Banco M; Perri A; Gianetti E; Montanelli L; Vitti P; Pinchera A
Clin Endocrinol (Oxf); 2007 Nov; 67(5):712-8. PubMed ID: 17697008
[TBL] [Abstract][Full Text] [Related]
6. Long-term outcome of loss-of-function mutations in thyrotropin receptor gene.
Tenenbaum-Rakover Y; Almashanu S; Hess O; Admoni O; Hag-Dahood Mahameed A; Schwartz N; Allon-Shalev S; Bercovich D; Refetoff S
Thyroid; 2015 Mar; 25(3):292-9. PubMed ID: 25557138
[TBL] [Abstract][Full Text] [Related]
7. Low prevalence of thyrotropin receptor mutations in a large series of subjects with sporadic and familial nonautoimmune subclinical hypothyroidism.
Tonacchera M; Perri A; De Marco G; Agretti P; Banco ME; Di Cosmo C; Grasso L; Vitti P; Chiovato L; Pinchera A
J Clin Endocrinol Metab; 2004 Nov; 89(11):5787-93. PubMed ID: 15531543
[TBL] [Abstract][Full Text] [Related]
8. Premature birth and low birth weight associated with nonautoimmune hyperthyroidism due to an activating thyrotropin receptor gene mutation.
Vaidya B; Campbell V; Tripp JH; Spyer G; Hattersley AT; Ellard S
Clin Endocrinol (Oxf); 2004 Jun; 60(6):711-8. PubMed ID: 15163335
[TBL] [Abstract][Full Text] [Related]
9. A family with congenital hypothyroidism caused by a combination of loss-of-function mutations in the thyrotropin receptor and adenylate cyclase-stimulating G alpha-protein subunit genes.
Lado-Abeal J; Castro-Piedras I; Palos-Paz F; Labarta-Aizpún JI; Albero-Gamboa R
Thyroid; 2011 Feb; 21(2):103-9. PubMed ID: 21186955
[TBL] [Abstract][Full Text] [Related]
10. The gene for the thyrotropin receptor (TSHR) as a candidate gene for congenital hypothyroidism with thyroid dysgenesis.
Krude H; Biebermann H; Göpel W; Grüters A
Exp Clin Endocrinol Diabetes; 1996; 104 Suppl 4():117-20. PubMed ID: 8981017
[TBL] [Abstract][Full Text] [Related]
11. Genetics and phenomics of hypothyroidism due to TSH resistance.
Persani L; Calebiro D; Cordella D; Weber G; Gelmini G; Libri D; de Filippis T; Bonomi M
Mol Cell Endocrinol; 2010 Jun; 322(1-2):72-82. PubMed ID: 20083154
[TBL] [Abstract][Full Text] [Related]
12. Intracellular entrapment of wild-type TSH receptor by oligomerization with mutants linked to dominant TSH resistance.
Calebiro D; de Filippis T; Lucchi S; Covino C; Panigone S; Beck-Peccoz P; Dunlap D; Persani L
Hum Mol Genet; 2005 Oct; 14(20):2991-3002. PubMed ID: 16135555
[TBL] [Abstract][Full Text] [Related]
13. Mutations of the human thyrotropin receptor gene causing thyroid hypoplasia and persistent congenital hypothyroidism.
Biebermann H; Schöneberg T; Krude H; Schultz G; Gudermann T; Grüters A
J Clin Endocrinol Metab; 1997 Oct; 82(10):3471-80. PubMed ID: 9329388
[TBL] [Abstract][Full Text] [Related]
14. Hypothyroidism caused by the combination of two heterozygous mutations: one in the TSH receptor gene the other in the DUOX2 gene.
Satoh M; Aso K; Ogikubo S; Yoshizawa-Ogasawara A; Saji T
J Pediatr Endocrinol Metab; 2015 May; 28(5-6):657-61. PubMed ID: 25928756
[TBL] [Abstract][Full Text] [Related]
15. Thyrotropin-stimulating hormone receptor gene analysis in pediatric patients with non-autoimmune subclinical hypothyroidism.
Nicoletti A; Bal M; De Marco G; Baldazzi L; Agretti P; Menabò S; Ballarini E; Cicognani A; Tonacchera M; Cassio A
J Clin Endocrinol Metab; 2009 Nov; 94(11):4187-94. PubMed ID: 19820021
[TBL] [Abstract][Full Text] [Related]
16. Congenital hypothyroidism and apparent athyreosis with compound heterozygosity or compensated hypothyroidism with probable hemizygosity for inactivating mutations of the TSH receptor.
Park SM; Clifton-Bligh RJ; Betts P; Chatterjee VK
Clin Endocrinol (Oxf); 2004 Feb; 60(2):220-7. PubMed ID: 14725684
[TBL] [Abstract][Full Text] [Related]
17. Mild and severe congenital primary hypothyroidism in two patients by thyrotropin receptor (TSHR) gene mutation.
Baş VN; Cangul H; Agladioglu SY; Kendall M; Cetinkaya S; Maher ER; Aycan Z
J Pediatr Endocrinol Metab; 2012; 25(11-12):1153-6. PubMed ID: 23329763
[TBL] [Abstract][Full Text] [Related]
18. Congenital hypothyroidism with impaired thyroid response to thyrotropin (TSH) and absent circulating thyroglobulin: evidence for a new inactivating mutation of the TSH receptor gene.
Tonacchera M; Agretti P; Pinchera A; Rosellini V; Perri A; Collecchi P; Vitti P; Chiovato L
J Clin Endocrinol Metab; 2000 Mar; 85(3):1001-8. PubMed ID: 10720030
[TBL] [Abstract][Full Text] [Related]
19. Frequent TSH receptor genetic alterations with variable signaling impairment in a large series of children with nonautoimmune isolated hyperthyrotropinemia.
Calebiro D; Gelmini G; Cordella D; Bonomi M; Winkler F; Biebermann H; de Marco A; Marelli F; Libri DV; Antonica F; Vigone MC; Cappa M; Mian C; Sartorio A; Beck-Peccoz P; Radetti G; Weber G; Persani L
J Clin Endocrinol Metab; 2012 Jan; 97(1):E156-60. PubMed ID: 22049173
[TBL] [Abstract][Full Text] [Related]
20. [Familial congenital hypothyroidism due to loss of function mutation of the thyrotropin receptor (resistance to thyrotropin)].
Matsushita A; Nakamura H
Nihon Rinsho; 2002 Feb; 60(2):284-90. PubMed ID: 11857915
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]