169 related articles for article (PubMed ID: 21714469)
21. A novel mutation in the thyrotropin (thyroid-stimulating hormone) receptor gene in a case of congenital hypothyroidism.
Jeziorowska A; Pniewska-Siark B; Brzeziańska E; Pastuszak-Lewandoska D; Lewiński A
Thyroid; 2006 Dec; 16(12):1303-9. PubMed ID: 17199441
[TBL] [Abstract][Full Text] [Related]
22. Mild TSH resistance: Clinical and hormonal features in childhood and adulthood.
Vigone MC; Di Frenna M; Guizzardi F; Gelmini G; de Filippis T; Mora S; Caiulo S; Sonnino M; Bonomi M; Persani L; Weber G
Clin Endocrinol (Oxf); 2017 Nov; 87(5):587-596. PubMed ID: 28561265
[TBL] [Abstract][Full Text] [Related]
23. 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]
24. 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]
25. 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]
26. A nonsense thyrotropin receptor gene mutation (R609X) is associated with congenital hypothyroidism and heart defects.
Cangul H; Bas VN; Saglam Y; Kendall M; Barrett TG; Maher ER; Aycan Z
J Pediatr Endocrinol Metab; 2014 Nov; 27(11-12):1101-5. PubMed ID: 24945425
[TBL] [Abstract][Full Text] [Related]
27. Two novel TSHR gene mutations (p.R528C and c.392+4del4) associated with congenital hypothyroidism.
Qiu YL; Ma SG; Liu H; Yue HN
Endocr Res; 2016 Aug; 41(3):180-4. PubMed ID: 26864598
[TBL] [Abstract][Full Text] [Related]
28. 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]
29. Loss-of-Function Variants in a Hungarian Cohort Reveal Structural Insights on TSH Receptor Maturation and Signaling.
Lábadi Á; Grassi ES; Gellén B; Kleinau G; Biebermann H; Ruzsa B; Gelmini G; Rideg O; Miseta A; Kovács GL; Patócs A; Felszeghy E; Nagy EV; Mezősi E; Persani L
J Clin Endocrinol Metab; 2015 Jul; 100(7):E1039-45. PubMed ID: 25978107
[TBL] [Abstract][Full Text] [Related]
30. Longitudinal evaluation of patients with a homozygous R450H mutation of the TSH receptor gene.
Mizuno H; Kanda K; Sugiyama Y; Imamine H; Ito T; Kato I; Togari H; Kamoda T; Onigata K
Horm Res; 2009; 71(6):318-23. PubMed ID: 19506388
[TBL] [Abstract][Full Text] [Related]
31. Mutation screening of the TSHR gene in 220 Chinese patients with congenital hypothyroidism.
Fang Y; Sun F; Zhang RJ; Zhang CR; Yan CY; Zhou Z; Zhang QY; Li L; Ying YX; Zhao SX; Liang J; Song HD
Clin Chim Acta; 2019 Oct; 497():147-152. PubMed ID: 31356790
[TBL] [Abstract][Full Text] [Related]
32. Eighteen-years follow-up of congenital hypothyroidism by
Watanabe D; Yagasaki H; Mitsui Y; Inukai T
Nagoya J Med Sci; 2023 May; 85(2):369-374. PubMed ID: 37346832
[TBL] [Abstract][Full Text] [Related]
33. Sequence analysis of the thyrotropin (TSH) receptor gene in congenital primary hypothyroidism associated with TSH unresponsiveness.
Takeshita A; Nagayama Y; Yamashita S; Takamatsu J; Ohsawa N; Maesaka H; Tachibana K; Tokuhiro E; Ashizawa K; Yokoyama N
Thyroid; 1994; 4(3):255-9. PubMed ID: 7833660
[TBL] [Abstract][Full Text] [Related]
34. Newborn screening and single nucleotide variation profiling of TSHR, TPO, TG and DUOX2 candidate genes for congenital hypothyroidism.
Kollati Y; Akella RRD; Naushad SM; Borkar D; Thalla M; Nagalingam S; Lingappa L; Patel RK; Reddy GB; Dirisala VR
Mol Biol Rep; 2020 Oct; 47(10):7467-7475. PubMed ID: 32930933
[TBL] [Abstract][Full Text] [Related]
35.
Zhang HY; Wu FY; Li XS; Tu PH; Zhang CX; Yang RM; Cui RJ; Wu CY; Fang Y; Yang L; Song HD; Zhao SX
Ann Lab Med; 2024 Jul; 44(4):343-353. PubMed ID: 38433572
[TBL] [Abstract][Full Text] [Related]
36. Congenital primary hypothyroidism in a turkish family caused by a homozygous nonsense mutation (R609X) in the thyrotropin receptor gene.
Richter-Unruh A; Hauffa BP; Pfarr N; Pohlenz J
Thyroid; 2004 Nov; 14(11):971-4. PubMed ID: 15671778
[TBL] [Abstract][Full Text] [Related]
37. DUOX2 Mutations Are Frequently Associated With Congenital Hypothyroidism in the Korean Population.
Park KJ; Park HK; Kim YJ; Lee KR; Park JH; Park JH; Park HD; Lee SY; Kim JW
Ann Lab Med; 2016 Mar; 36(2):145-53. PubMed ID: 26709262
[TBL] [Abstract][Full Text] [Related]
38. An essential splice site mutation (c.317+1G>A) in the TSHR gene leads to severe thyroid dysgenesis.
Cangul H; Saglam H; Saglam Y; Eren E; Dogan D; Kendall M; Tarim O; Maher ER; Barrett TG
J Pediatr Endocrinol Metab; 2014 Sep; 27(9-10):1021-5. PubMed ID: 24859513
[TBL] [Abstract][Full Text] [Related]
39. A deletion including exon 2 of the TSHR gene is associated with thyroid dysgenesis and severe congenital hypothyroidism.
Cangul H; Schoenmakers NA; Saglam H; Doganlar D; Saglam Y; Eren E; Kendall M; Tarim O; Barrett TG; Chatterjee K; Maher ER
J Pediatr Endocrinol Metab; 2014 Jul; 27(7-8):731-5. PubMed ID: 24690939
[TBL] [Abstract][Full Text] [Related]
40. 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]
[Previous] [Next] [New Search]