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Items: 1 to 20 of 147

1.

Functional characterization of four novel PAX8 mutations causing congenital hypothyroidism: new evidence for haploinsufficiency as a disease mechanism.

Narumi S, Araki S, Hori N, Muroya K, Yamamoto Y, Asakura Y, Adachi M, Hasegawa T.

Eur J Endocrinol. 2012 Nov;167(5):625-32. doi: 10.1530/EJE-12-0410. Epub 2012 Aug 16.

2.

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. doi: 10.1530/EJE-13-1006.

3.
4.

Genetic analysis of the paired box transcription factor (PAX8) gene in a cohort of Polish patients with primary congenital hypothyroidism and dysgenetic thyroid glands.

Kumorowicz-Czoch M, Madetko-Talowska A, Dudek A, Tylek-Lemanska D.

J Pediatr Endocrinol Metab. 2015 Jul;28(7-8):735-43. doi: 10.1515/jpem-2014-0310.

PMID:
25720050
5.

Characterization of a novel loss-of-function mutation of PAX8 associated with congenital hypothyroidism.

Di Palma T, Zampella E, Filippone MG, Macchia PE, Ris-Stalpers C, de Vroede M, Zannini M.

Clin Endocrinol (Oxf). 2010 Dec;73(6):808-14. doi: 10.1111/j.1365-2265.2010.03851.x.

PMID:
20718765
6.

A new PAX8 mutation causing congenital hypothyroidism in three generations of a family is associated with abnormalities in the urogenital tract.

Carvalho A, Hermanns P, Rodrigues AL, Sousa I, Anselmo J, Bikker H, Cabral R, Pereira-Duarte C, Mota-Vieira L, Pohlenz J.

Thyroid. 2013 Sep;23(9):1074-8. doi: 10.1089/thy.2012.0649.

PMID:
23647375
7.

Two cases of thyroid dysgenesis caused by different novel PAX8 mutations in the DNA-binding region: in vitro studies reveal different pathogenic mechanisms.

Hermanns P, Grasberger H, Cohen R, Freiberg C, Dörr HG, Refetoff S, Pohlenz J.

Thyroid. 2013 Jul;23(7):791-6. doi: 10.1089/thy.2012.0141. Epub 2013 Jan 11.

8.

A new mutation in the promoter region of the PAX8 gene causes true congenital hypothyroidism with thyroid hypoplasia in a girl with Down's syndrome.

Hermanns P, Shepherd S, Mansor M, Schulga J, Jones J, Donaldson M, Pohlenz J.

Thyroid. 2014 Jun;24(6):939-44. doi: 10.1089/thy.2013.0248. Epub 2014 Mar 21.

PMID:
24499175
9.

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.

PMID:
11502839
10.

Identification of a novel pax8 gene sequence variant in four members of the same family: from congenital hypothyroidism with thyroid hypoplasia to mild subclinical hypothyroidism.

Vincenzi M, Camilot M, Ferrarini E, Teofoli F, Venturi G, Gaudino R, Cavarzere P, De Marco G, Agretti P, Dimida A, Tonacchera M, Boner A, Antoniazzi F.

BMC Endocr Disord. 2014 Aug 22;14:69. doi: 10.1186/1472-6823-14-69.

11.

Identification and characterization of four PAX8 rare sequence variants (p.T225M, p.L233L, p.G336S and p.A439A) in patients with congenital hypothyroidism and dysgenetic thyroid glands.

Esperante SA, Rivolta CM, Miravalle L, Herzovich V, Iorcansky S, Baralle M, Targovnik HM.

Clin Endocrinol (Oxf). 2008 May;68(5):828-35. Epub 2007 Nov 2.

PMID:
17980011
12.

Mutations in the NKX2.5 gene and the PAX8 promoter in a girl with thyroid dysgenesis.

Hermanns P, Grasberger H, Refetoff S, Pohlenz J.

J Clin Endocrinol Metab. 2011 Jun;96(6):E977-81. doi: 10.1210/jc.2010-2341. Epub 2011 Mar 30.

13.

Genetic analysis of the PAX8 gene in children with congenital hypothyroidism and dysgenetic or eutopic thyroid glands: identification of a novel sequence variant.

Tonacchera M, Banco ME, Montanelli L, Di Cosmo C, Agretti P, De Marco G, Ferrarini E, Ordookhani A, Perri A, Chiovato L, Santini F, Vitti P, Pinchera A.

Clin Endocrinol (Oxf). 2007 Jul;67(1):34-40. Epub 2007 Apr 15.

PMID:
17437516
14.

Mutations in the gene encoding paired box domain (PAX8) are not a frequent cause of congenital hypothyroidism (CH) in Iranian patients with thyroid dysgenesis.

Mahjoubi F, Mohammadi MM, Montazeri M, Aminii M, Hashemipour M.

Arq Bras Endocrinol Metabol. 2010 Aug;54(6):555-9.

15.

Screening of PAX8 mutations in Chinese patients with congenital hypothyroidism.

Liu SG, Zhang SS, Zhang LQ, Li WJ, Zhang AQ, Lu KN, Wang MJ, Yan SL, Ma X.

J Endocrinol Invest. 2012 Nov;35(10):889-92. doi: 10.3275/8239. Epub 2012 Jan 31.

PMID:
22293317
16.

A De novo PAX8 mutation in a Chinese child with congenital thyroid dysgenesis.

Zou H, Chai J, Liu S, Zang H, Yu X, Tian L, Li H, Han B.

Int J Clin Exp Pathol. 2015 Sep 1;8(9):11434-9. eCollection 2015.

17.

Thyroid transcription factor 1 rescues PAX8/p300 synergism impaired by a natural PAX8 paired domain mutation with dominant negative activity.

Grasberger H, Ringkananont U, Lefrancois P, Abramowicz M, Vassart G, Refetoff S.

Mol Endocrinol. 2005 Jul;19(7):1779-91. Epub 2005 Feb 17.

PMID:
15718293
18.

PAX8 pathogenic variants in Chinese patients with congenital hypothyroidism.

Fu C, Chen R, Zhang S, Luo S, Wang J, Chen Y, Zheng H, Su J, Hu X, Fan X, Luo J, Yi S, Lai Y, Li C, Xie B, Shen Y, Gu X, Chen S.

Clin Chim Acta. 2015 Oct 23;450:322-6. doi: 10.1016/j.cca.2015.09.008. Epub 2015 Sep 8.

PMID:
26362610
19.

Absence of mutations in PAX8, NKX2.5, and TSH receptor genes in patients with thyroid dysgenesis.

Brust ES, Beltrao CB, Chammas MC, Watanabe T, Sapienza MT, Marui S.

Arq Bras Endocrinol Metabol. 2012 Apr;56(3):173-7.

20.

Clinical and molecular analysis of thyroid hypoplasia: a population-based approach in southern Brazil.

Ramos HE, Nesi-França S, Boldarine VT, Pereira RM, Chiamolera MI, Camacho CP, Graf H, de Lacerda L, Carvalho GA, Maciel RM.

Thyroid. 2009 Jan;19(1):61-8. doi: 10.1089/thy.2008.0116.

PMID:
18976153

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