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Journal Abstract Search

179 related items for PubMed ID: 18957494

  • 1.
    ; . PubMed ID:
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  • 2. Functional study of a novel single deletion in the TITF1/NKX2.1 homeobox gene that produces congenital hypothyroidism and benign chorea but not pulmonary distress.
    Moya CM, Perez de Nanclares G, Castaño L, Potau N, Bilbao JR, Carrascosa A, Bargadá M, Coya R, Martul P, Vicens-Calvet E, Santisteban P.
    J Clin Endocrinol Metab; 2006 May; 91(5):1832-41. PubMed ID: 16507635
    [Abstract] [Full Text] [Related]

  • 3. Five new TTF1/NKX2.1 mutations in brain-lung-thyroid syndrome: rescue by PAX8 synergism in one case.
    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.
    Hum Mol Genet; 2009 Jun 15; 18(12):2266-76. PubMed ID: 19336474
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  • 5. Choreoathetosis, hypothyroidism, and pulmonary alterations due to human NKX2-1 haploinsufficiency.
    Krude H, Schütz B, Biebermann H, von Moers A, Schnabel D, Neitzel H, Tönnies H, Weise D, Lafferty A, Schwarz S, DeFelice M, von Deimling A, van Landeghem F, DiLauro R, Grüters A.
    J Clin Invest; 2002 Feb 15; 109(4):475-80. PubMed ID: 11854319
    [Abstract] [Full Text] [Related]

  • 6. Fatal neonatal respiratory failure in an infant with congenital hypothyroidism due to haploinsufficiency of the NKX2-1 gene: alteration of pulmonary surfactant homeostasis.
    Kleinlein B, Griese M, Liebisch G, Krude H, Lohse P, Aslanidis C, Schmitz G, Peters J, Holzinger A.
    Arch Dis Child Fetal Neonatal Ed; 2011 Nov 15; 96(6):F453-6. PubMed ID: 20584796
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  • 7. Autosomal dominant transmission of congenital hypothyroidism, neonatal respiratory distress, and ataxia caused by a mutation of NKX2-1.
    Doyle DA, Gonzalez I, Thomas B, Scavina M.
    J Pediatr; 2004 Aug 15; 145(2):190-3. PubMed ID: 15289765
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  • 8. Deletion of NKX2.1 gene encoding thyroid transcription factor-1 in two siblings with hypothyroidism and respiratory failure.
    Iwatani N, Mabe H, Devriendt K, Kodama M, Miike T.
    J Pediatr; 2000 Aug 15; 137(2):272-6. PubMed ID: 10931427
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  • 9. 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.
    Veneziano L, Parkinson MH, Mantuano E, Frontali M, Bhatia KP, Giunti P.
    Cerebellum; 2014 Oct 15; 13(5):588-95. PubMed ID: 24930029
    [Abstract] [Full Text] [Related]

  • 10. NKX2-1 mutations leading to surfactant protein promoter dysregulation cause interstitial lung disease in "Brain-Lung-Thyroid Syndrome".
    Guillot L, Carré A, Szinnai G, Castanet M, Tron E, Jaubert F, Broutin I, Counil F, Feldmann D, Clement A, Polak M, Epaud R.
    Hum Mutat; 2010 Feb 15; 31(2):E1146-62. PubMed ID: 20020530
    [Abstract] [Full Text] [Related]

  • 11. Novel NKX2.1 mutation associated with hypothyroidism and lethal respiratory failure in a full-term neonate.
    Gillett ES, Deutsch GH, Bamshad MJ, McAdams RM, Mann PC.
    J Perinatol; 2013 Feb 15; 33(2):157-60. PubMed ID: 23361500
    [Abstract] [Full Text] [Related]

  • 12. NKX2-1 mutations in brain-lung-thyroid syndrome: a case series of four patients.
    Shetty VB, Kiraly-Borri C, Lamont P, Bikker H, Choong CS.
    J Pediatr Endocrinol Metab; 2014 Mar 15; 27(3-4):373-8. PubMed ID: 24129101
    [Abstract] [Full Text] [Related]

  • 13. NKX2.1-Related Disorders: a novel mutation with mild clinical presentation.
    Monti S, Nicoletti A, Cantasano A, Krude H, Cassio A.
    Ital J Pediatr; 2015 Jun 24; 41():45. PubMed ID: 26103969
    [Abstract] [Full Text] [Related]

  • 14. A novel NKX2.1 mutation in a family with hypothyroidism and benign hereditary chorea.
    Ferrara AM, De Michele G, Salvatore E, Di Maio L, Zampella E, Capuano S, Del Prete G, Rossi G, Fenzi G, Filla A, Macchia PE.
    Thyroid; 2008 Sep 24; 18(9):1005-9. PubMed ID: 18788921
    [Abstract] [Full Text] [Related]

  • 15. Heterogeneous pulmonary phenotypes associated with mutations in the thyroid transcription factor gene NKX2-1.
    Hamvas A, Deterding RR, Wert SE, White FV, Dishop MK, Alfano DN, Halbower AC, Planer B, Stephan MJ, Uchida DA, Williames LD, Rosenfeld JA, Lebel RR, Young LR, Cole FS, Nogee LM.
    Chest; 2013 Sep 24; 144(3):794-804. PubMed ID: 23430038
    [Abstract] [Full Text] [Related]

  • 16. [Chorea due to TITF1/NKX2-1 mutation: phenotypical description and therapeutic response in a family].
    Salvado M, Boronat-Guerrero S, Hernández-Vara J, Álvarez-Sabin J.
    Rev Neurol; 2013 May 16; 56(10):515-20. PubMed ID: 23658034
    [Abstract] [Full Text] [Related]

  • 17. Thyroid transcription factor-1 (TTF-1/Nkx2.1/TITF1) gene regulation in the lung.
    Boggaram V.
    Clin Sci (Lond); 2009 Jan 16; 116(1):27-35. PubMed ID: 19037882
    [Abstract] [Full Text] [Related]

  • 18. A novel mutation of NKX2-1 affecting 2 generations with hypothyroidism and choreoathetosis: part of the spectrum of brain-thyroid-lung syndrome.
    Williamson S, Kirkpatrick M, Greene S, Goudie D.
    J Child Neurol; 2014 May 16; 29(5):666-9. PubMed ID: 24453141
    [Abstract] [Full Text] [Related]

  • 19. Growth hormone deficiency in a child with benign hereditary chorea caused by a de novo mutation of the TITF1/NKX2-1 gene.
    Trevisani V, Predieri B, Madeo SF, Fusco C, Garavelli L, Caraffi S, Iughetti L.
    J Pediatr Endocrinol Metab; 2022 Mar 28; 35(3):411-415. PubMed ID: 34710315
    [Abstract] [Full Text] [Related]

  • 20. Choreoathetosis, congenital hypothyroidism and neonatal respiratory distress syndrome with intact NKX2-1.
    Barnett CP, Mencel JJ, Gecz J, Waters W, Kirwin SM, Vinette KM, Uppill M, Nicholl J.
    Am J Med Genet A; 2012 Dec 28; 158A(12):3168-73. PubMed ID: 23169673
    [Abstract] [Full Text] [Related]

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