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Journal Abstract Search

402 related items for PubMed ID: 25214233

  • 1. 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
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  • 4. 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. PubMed ID: 22898500
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  • 5. 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. PubMed ID: 18976153
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  • 7. 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. PubMed ID: 24499175
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  • 8. 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. PubMed ID: 17980011
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  • 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. PubMed ID: 11502839
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  • 11. 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. PubMed ID: 17437516
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  • 12. Genetic Variability of the Paired Box Transcription Factor; PAX8 Gene: Guidance Towards Treatment Strategies in a Cohort of Congenital Hypothyroidism.
    El-Ella SSA, Khattab ESAEH, Beddah RK, Barseem NF.
    Horm Metab Res; 2021 May; 53(5):311-318. PubMed ID: 33862642
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  • 13. 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. PubMed ID: 20857061
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  • 14. 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. PubMed ID: 23647375
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  • 15. 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; 28(7-8):777-84. PubMed ID: 25153578
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  • 16. 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 Jul; 11():413. PubMed ID: 32765423
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  • 17. Phenotypic Variability of Patients With PAX8 Variants Presenting With Congenital Hypothyroidism and Eutopic Thyroid.
    Camats N, Baz-Redón N, Fernández-Cancio M, Clemente M, Campos-Martorell A, Jaimes N, Antolín M, Garcia-Arumí E, Blasco-Pérez L, Paramonov I, Mogas E, Soler-Colomer L, Yeste D.
    J Clin Endocrinol Metab; 2021 Jan 01; 106(1):e152-e170. PubMed ID: 33029631
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  • 18. 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 01; 35(10):889-92. PubMed ID: 22293317
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  • 19. 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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  • 20. Screening for Pax8 mutations in patients with congenital hypothyroidism in South-West Germany.
    Lanzerath K, Bettendorf M, Haag C, Kneppo C, Schulze E, Grulich-Henn J.
    Horm Res; 2006 Jun 30; 66(2):96-100. PubMed ID: 16763387
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