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Journal Abstract Search

292 related items for PubMed ID: 25146893

  • 1. 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. PubMed ID: 25146893
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  • 6. 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 22; 28(7-8):735-43. PubMed ID: 25720050
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  • 7. 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 22; 86(8):3962-7. PubMed ID: 11502839
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  • 10. The genetic characteristics of congenital hypothyroidism in China by comprehensive screening of 21 candidate genes.
    Sun F, Zhang JX, Yang CY, Gao GQ, Zhu WB, Han B, Zhang LL, Wan YY, Ye XP, Ma YR, Zhang MM, Yang L, Zhang QY, Liu W, Guo CC, Chen G, Zhao SX, Song KY, Song HD.
    Eur J Endocrinol; 2018 Jun 22; 178(6):623-633. PubMed ID: 29650690
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  • 11. 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 22; 171(4):499-507. PubMed ID: 25214233
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  • 12. 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 22; 67(1):34-40. PubMed ID: 17437516
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  • 13. 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 22; 24(6):939-44. PubMed ID: 24499175
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  • 14. 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 22; 68(5):828-35. PubMed ID: 17980011
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  • 15. Genetics of Gland-in-situ or Hypoplastic Congenital Hypothyroidism in Macedonia.
    Zdraveska N, Kocova M, Nicholas AK, Anastasovska V, Schoenmakers N.
    Front Endocrinol (Lausanne); 2020 May 22; 11():413. PubMed ID: 32765423
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  • 16. Functional characterization of the novel sequence variant p.S304R in the hinge region of TSHR in a congenital hypothyroidism patients and analogy with other formerly known mutations of this gene portion.
    Cerqueira TL, Carré A, Chevrier L, Szinnai G, Tron E, Léger J, Cabrol S, Queinnec C, De Roux N, Castanet M, Polak M, Ramos HE.
    J Pediatr Endocrinol Metab; 2015 Jul 22; 28(7-8):777-84. PubMed ID: 25153578
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  • 17. 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. PubMed ID: 20302910
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  • 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 30; 167(5):625-32. PubMed ID: 22898500
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  • 19. A mouse model demonstrates a multigenic origin of congenital hypothyroidism.
    Amendola E, De Luca P, Macchia PE, Terracciano D, Rosica A, Chiappetta G, Kimura S, Mansouri A, Affuso A, Arra C, Macchia V, Di Lauro R, De Felice M.
    Endocrinology; 2005 Dec 30; 146(12):5038-47. PubMed ID: 16150900
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  • 20. Mutation screening in the genes PAX-8, NKX2-5, TSH-R, HES-1 in cohort of 63 Brazilian children with thyroid dysgenesis.
    Cerqueira TLO, Ramos YR, Strappa GB, Jesus MS, Santos JG, Sousa C, Carvalho G, Fernandes V, Boa-Sorte N, Amorim T, Silva TM, Ladeia AMT, Acosta AX, Ramos HE.
    Arch Endocrinol Metab; 2018 Aug 30; 62(4):466-471. PubMed ID: 30304112
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