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Journal Abstract Search

291 related items for PubMed ID: 11854319

  • 1. 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; 109(4):475-80. PubMed ID: 11854319
    [Abstract] [Full Text] [Related]

  • 2. 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; 145(2):190-3. PubMed ID: 15289765
    [Abstract] [Full Text] [Related]

  • 3. Psychosis, short stature in benign hereditary chorea: a novel thyroid transcription factor-1 mutation.
    Glik A, Vuillaume I, Devos D, Inzelberg R.
    Mov Disord; 2008 Sep 15; 23(12):1744-7. PubMed ID: 18661567
    [Abstract] [Full Text] [Related]

  • 4. Hypoperfusion in caudate nuclei in patients with brain-lung-thyroid syndrome.
    Uematsu M, Haginoya K, Kikuchi A, Nakayama T, Kakisaka Y, Numata Y, Kobayashi T, Hino-Fukuyo N, Fujiwara I, Kure S.
    J Neurol Sci; 2012 Apr 15; 315(1-2):77-81. PubMed ID: 22166853
    [Abstract] [Full Text] [Related]

  • 5. 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 15; 91(5):1832-41. PubMed ID: 16507635
    [Abstract] [Full Text] [Related]

  • 6. Lethal respiratory failure and mild primary hypothyroidism in a term girl with a de novo heterozygous mutation in the TITF1/NKX2.1 gene.
    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.
    J Clin Endocrinol Metab; 2009 Jan 15; 94(1):197-203. PubMed ID: 18957494
    [Abstract] [Full Text] [Related]

  • 7. Multiplex Ligation-dependent Probe Amplification improves the detection rate of NKX2.1 mutations in patients affected by brain-lung-thyroid syndrome.
    Teissier R, Guillot L, Carré A, Morandini M, Stuckens C, Ythier H, Munnich A, Szinnai G, de Blic J, Clement A, Leger J, Castanet M, Epaud R, Polak M.
    Horm Res Paediatr; 2012 Jan 15; 77(3):146-51. PubMed ID: 22488412
    [Abstract] [Full Text] [Related]

  • 8. Functional characterization of a novel mutation in TITF-1 in a patient with benign hereditary chorea.
    Provenzano C, Veneziano L, Appleton R, Frontali M, Civitareale D.
    J Neurol Sci; 2008 Jan 15; 264(1-2):56-62. PubMed ID: 17765926
    [Abstract] [Full Text] [Related]

  • 9. 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
    [Abstract] [Full Text] [Related]

  • 10. 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]

  • 11. 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 15; 29(5):666-9. PubMed ID: 24453141
    [Abstract] [Full Text] [Related]

  • 12. 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
    [Abstract] [Full Text] [Related]

  • 13. 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 15; 158A(12):3168-73. PubMed ID: 23169673
    [Abstract] [Full Text] [Related]

  • 14. 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]

  • 15. A novel TITF-1 mutation causes benign hereditary chorea with response to levodopa.
    Asmus F, Horber V, Pohlenz J, Schwabe D, Zimprich A, Munz M, Schöning M, Gasser T.
    Neurology; 2005 Jun 14; 64(11):1952-4. PubMed ID: 15955952
    [Abstract] [Full Text] [Related]

  • 16. 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 14; 18(9):1005-9. PubMed ID: 18788921
    [Abstract] [Full Text] [Related]

  • 17. Congenital hypothyroidism caused by new mutations in the thyroid oxidase 2 (THOX2) gene.
    Pfarr N, Korsch E, Kaspers S, Herbst A, Stach A, Zimmer C, Pohlenz J.
    Clin Endocrinol (Oxf); 2006 Dec 14; 65(6):810-5. PubMed ID: 17121535
    [Abstract] [Full Text] [Related]

  • 18. Respiratory insufficiency in a newborn with congenital hypothyroidism due to a new mutation of TTF-1/NKX2.1 gene.
    Salerno T, Peca D, Menchini L, Schiavino A, Petreschi F, Occasi F, Cogo P, Danhaive O, Cutrera R.
    Pediatr Pulmonol; 2014 Mar 14; 49(3):E42-4. PubMed ID: 23997037
    [Abstract] [Full Text] [Related]

  • 19. Long-term consequences of congenital hypothyroidism in the era of screening programmes.
    Grüters A, Jenner A, Krude H.
    Best Pract Res Clin Endocrinol Metab; 2002 Jun 14; 16(2):369-82. PubMed ID: 12064898
    [Abstract] [Full Text] [Related]

  • 20. A further case of brain-lung-thyroid syndrome with deletion proximal to NKX2-1.
    Kharbanda M, Hermanns P, Jones J, Pohlenz J, Horrocks I, Donaldson M.
    Eur J Med Genet; 2017 May 14; 60(5):257-260. PubMed ID: 28286255
    [Abstract] [Full Text] [Related]

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