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Items: 1 to 20 of 134

1.

Characterization of a novel loss of function mutation of PAX8 in a familial case of congenital hypothyroidism with in-place, normal-sized thyroid.

Meeus L, Gilbert B, Rydlewski C, Parma J, Roussie AL, Abramowicz M, Vilain C, Christophe D, Costagliola S, Vassart G.

J Clin Endocrinol Metab. 2004 Sep;89(9):4285-91.

PMID:
15356023
2.

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
3.

Autosomal dominant transmission of congenital thyroid hypoplasia due to loss-of-function mutation of PAX8.

Vilain C, Rydlewski C, Duprez L, Heinrichs C, Abramowicz M, Malvaux P, Renneboog B, Parma J, Costagliola S, Vassart G.

J Clin Endocrinol Metab. 2001 Jan;86(1):234-8.

PMID:
11232006
4.

Analysis of the PAX8 gene in congenital hypothyroidism caused by different forms of thyroid dysgenesis in a father and daughter.

Bereket A, Liao XH, Turoglu T, Aribal E, Refetoff S.

J Pediatr Endocrinol Metab. 2004 Jul;17(7):1021-9.

PMID:
15301052
5.

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
6.

PAX8 mutations associated with congenital hypothyroidism caused by thyroid dysgenesis.

Macchia PE, Lapi P, Krude H, Pirro MT, Missero C, Chiovato L, Souabni A, Baserga M, Tassi V, Pinchera A, Fenzi G, Grüters A, Busslinger M, Di Lauro R.

Nat Genet. 1998 May;19(1):83-6.

PMID:
9590296
7.

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.

8.

Familial PAX8 small deletion (c.989_992delACCC) associated with extreme phenotype variability.

de Sanctis L, Corrias A, Romagnolo D, Di Palma T, Biava A, Borgarello G, Gianino P, Silvestro L, Zannini M, Dianzani I.

J Clin Endocrinol Metab. 2004 Nov;89(11):5669-74.

PMID:
15531527
9.

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
10.

Genetics and phenomics of hypothyroidism and thyroid dys- and agenesis due to PAX8 and TTF1 mutations.

Montanelli L, Tonacchera M.

Mol Cell Endocrinol. 2010 Jun 30;322(1-2):64-71. doi: 10.1016/j.mce.2010.03.009. Epub 2010 Mar 17. Review.

PMID:
20302910
11.
12.

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
13.

Genetics of specific phenotypes of congenital hypothyroidism: a population-based approach.

Calaciura F, Miscio G, Coco A, Leonardi D, Cisternino C, Regalbuto C, Bozzali M, Maiorana R, Ranieri A, Carta A, Buscema M, Trischitta V, Sava L, Tassi V.

Thyroid. 2002 Nov;12(11):945-51.

PMID:
12490071
14.

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
15.

Congenital hypothyroidism: etiologies, diagnosis, and management.

LaFranchi S.

Thyroid. 1999 Jul;9(7):735-40. Review.

PMID:
10447022
16.

PAX8, TITF1, and FOXE1 gene expression patterns during human development: new insights into human thyroid development and thyroid dysgenesis-associated malformations.

Trueba SS, Augé J, Mattei G, Etchevers H, Martinovic J, Czernichow P, Vekemans M, Polak M, Attié-Bitach T.

J Clin Endocrinol Metab. 2005 Jan;90(1):455-62. Epub 2004 Oct 19.

PMID:
15494458
17.

Structural defects of a Pax8 mutant that give rise to congenital hypothyroidism.

Tell G, Pellizzari L, Esposito G, Pucillo C, Macchia PE, Di Lauro R, Damante G.

Biochem J. 1999 Jul 1;341 ( Pt 1):89-93.

18.

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.

19.

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
20.

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.

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