| 1 | NKX2-1, TGDRD
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| NKX2.1-Related Disorders: a novel mutation with mild clinical presentation.
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| Monti S, Nicoletti A, Cantasano A, Krude H, Cassio A.
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| Ital J Pediatr 41:45. doi: 10.1186/s13052-015-0150-6.
2015
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| 2 | NKX2-1, TGDRD
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| A novel de novo mutation of the TITF1/NKX2-1 gene causing ataxia, benign hereditary chorea, hypothyroidism and a pituitary mass in a UK family and review of the literature.
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| Veneziano L, Parkinson MH, Mantuano E, Frontali M, Bhatia KP, Giunti P.
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| Cerebellum 13(5):588-95. doi: 10.1007/s12311-014-0570-7. Review.
2014
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| 3 | NKX2-1, TGDRD
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| Identification and functional characterization of a novel mutation in the NKX2-1 gene: comparison with the data in the literature.
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| Nettore IC, Mirra P, Ferrara AM, Sibilio A, Pagliara V, Kay CS, Lorenzoni PJ, Werneck LC, Bruck I, Dos Santos LH, Beguinot F, Salvatore D, Ungaro P, Fenzi G, Scola RH, Macchia PE.
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| Thyroid 23(6):675-82. doi: 10.1089/thy.2012.0267.
2013
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| 4 | NKX2-1, TGDRD
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| Lethal respiratory failure and mild primary hypothyroidism in a term girl with a de novo heterozygous mutation in the TITF1/NKX2.1 gene.
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| Maquet E, Costagliola S, Parma J, Christophe-Hobertus C, Oligny LL, Fournet JC, Robitaille Y, Vuissoz JM, Payot A, Laberge S, Vassart G, Van Vliet G, Deladoëy J.
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| J Clin Endocrinol Metab 94(1):197-203. Epub 2008 Oct 28.
2009
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| 5 | BHC, NKX2-1, TGDRD
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| Five new TTF1/NKX2.1 mutations in brain-lung-thyroid syndrome: rescue by PAX8 synergism in one case.
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| Carré A, Szinnai G, Castanet M, Sura-Trueba S, Tron E, Broutin-L'Hermite I, Barat P, Goizet C, Lacombe D, Moutard ML, Raybaud C, Raynaud-Ravni C, Romana S, Ythier H, Léger J, Polak M.
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| Hum Mol Genet 18(12):2266-76. Epub 2009 Mar 31. 2009
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