116 related articles for article (PubMed ID: 23412856)
1. A novel mutation in thyrotropin (thyroid-stimulating hormone) gene in congenital hypothyroidism.
Nirupam N; Maheshwari A; Gupta S; Aneja S; Seth A
J Pediatr Endocrinol Metab; 2013; 26(5-6):565-7. PubMed ID: 23412856
[TBL] [Abstract][Full Text] [Related]
2. Familial Central Hypothyroidism Caused by a Novel IGSF1 Gene Mutation.
Tenenbaum-Rakover Y; Turgeon MO; London S; Hermanns P; Pohlenz J; Bernard DJ; Bercovich D
Thyroid; 2016 Dec; 26(12):1693-1700. PubMed ID: 27310681
[TBL] [Abstract][Full Text] [Related]
3. Initially elevated TSH and congenital central hypothyroidism due to a homozygous mutation of the TSH beta subunit gene: case report and review of the literature.
Partsch CJ; Riepe FG; Krone N; Sippell WG; Pohlenz J
Exp Clin Endocrinol Diabetes; 2006 May; 114(5):227-34. PubMed ID: 16804796
[TBL] [Abstract][Full Text] [Related]
4. Transient neonatal hypothyroidism in a boy with unbalanced translocation t(8;16).
Secchi LA; Mazzeu JF; Córdoba MS; Ferrari I; Ramos HE; Neves Fde A
Arq Bras Endocrinol Metabol; 2012 Nov; 56(8):564-9. PubMed ID: 23295299
[TBL] [Abstract][Full Text] [Related]
5. Extreme phenotypic variability of thyroid dysgenesis in six new cases of congenital hypothyroidism due to PAX8 gene loss-of-function mutations.
Ramos HE; Carré A; Chevrier L; Szinnai G; Tron E; Cerqueira TL; Léger J; Cabrol S; Puel O; Queinnec C; De Roux N; Guillot L; Castanet M; Polak M
Eur J Endocrinol; 2014 Oct; 171(4):499-507. PubMed ID: 25214233
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. Congenital Central Hypothyroidism Caused by a Novel Thyroid-Stimulating Hormone-Beta Subunit Gene Mutation in Two Siblings.
Özhan B; Boz Anlaş Ö; Sarıkepe B; Albuz B; Semerci Gündüz N
J Clin Res Pediatr Endocrinol; 2017 Sep; 9(3):278-282. PubMed ID: 28515030
[TBL] [Abstract][Full Text] [Related]
8. [Molecular pathology of congenital pituitary hypothyroidism--discovery of new clinical entities].
Tatsumi K; Amino N; Miyai K
Rinsho Byori; 1993 May; 41(5):533-40. PubMed ID: 8350517
[TBL] [Abstract][Full Text] [Related]
9. 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]
10. Structural analysis of the thyrotropin receptor in four patients with congenital hypothyroidism due to thyroid hypoplasia.
Nogueira CR; Nguyen LQ; Coelho-Neto JR; Arseven OK; Jameson JL; Kopp P; Medeiros-Neto GA
Thyroid; 1999 Jun; 9(6):523-9. PubMed ID: 10411113
[TBL] [Abstract][Full Text] [Related]
11. 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]
12. Genetic basis of congenital hypothyroidism: abnormalities in the TSHbeta gene, the PIT1 gene, and the NIS gene.
Tatsumi K; Miyai K; Amino N
Clin Chem Lab Med; 1998 Aug; 36(8):659-62. PubMed ID: 9806481
[TBL] [Abstract][Full Text] [Related]
13. Thyroid dyshormonogenesis.
Kumar PG; Anand SS; Sood V; Kotwal N
Indian Pediatr; 2005 Dec; 42(12):1233-5. PubMed ID: 16424561
[TBL] [Abstract][Full Text] [Related]
14. The p.A2215D thyroglobulin gene mutation leads to deficient synthesis and secretion of the mutated protein and congenital hypothyroidism with wide phenotype variation.
Pardo V; Vono-Toniolo J; Rubio IG; Knobel M; Possato RF; Targovnik HM; Kopp P; Medeiros-Neto G
J Clin Endocrinol Metab; 2009 Aug; 94(8):2938-44. PubMed ID: 19509106
[TBL] [Abstract][Full Text] [Related]
15. Transient congenital hypothyroidism caused by biallelic mutations of the dual oxidase 2 gene in Japanese patients detected by a neonatal screening program.
Maruo Y; Takahashi H; Soeda I; Nishikura N; Matsui K; Ota Y; Mimura Y; Mori A; Sato H; Takeuchi Y
J Clin Endocrinol Metab; 2008 Nov; 93(11):4261-7. PubMed ID: 18765513
[TBL] [Abstract][Full Text] [Related]
16. Phenotypic variation among four family members with congenital hypothyroidism caused by two distinct thyroglobulin gene mutations.
Pardo V; Rubio IG; Knobel M; Aguiar-Oliveira MH; Santos MM; Gomes SA; Oliveira CR; Targovnik HM; Medeiros-Neto G
Thyroid; 2008 Jul; 18(7):783-6. PubMed ID: 18631008
[TBL] [Abstract][Full Text] [Related]
17. 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]
18. A novel mutation (Q40P) in PAX8 associated with congenital hypothyroidism and thyroid hypoplasia: evidence for phenotypic variability in mother and child.
Congdon T; Nguyen LQ; Nogueira CR; Habiby RL; Medeiros-Neto G; Kopp P
J Clin Endocrinol Metab; 2001 Aug; 86(8):3962-7. PubMed ID: 11502839
[TBL] [Abstract][Full Text] [Related]
19. Screening for mutations in transcription factors in a Czech cohort of 170 patients with congenital and early-onset hypothyroidism: identification of a novel PAX8 mutation in dominantly inherited early-onset non-autoimmune hypothyroidism.
Al Taji E; Biebermann H; Límanová Z; Hníková O; Zikmund J; Dame C; Grüters A; Lebl J; Krude H
Eur J Endocrinol; 2007 May; 156(5):521-9. PubMed ID: 17468187
[TBL] [Abstract][Full Text] [Related]
20. A familial case of congenital hypothyroidism caused by a homozygous mutation of the thyrotropin receptor gene.
Bretones P; Duprez L; Parma J; David M; Vassart G; Rodien P
Thyroid; 2001 Oct; 11(10):977-80. PubMed ID: 11716047
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]