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PUBMED FOR HANDHELDS

Journal Abstract Search

235 related items for PubMed ID: 17044090

  • 21. Deletion of PAX9 and oligodontia: a third family and review of the literature.
    Guala A, Falco V, Breedveld G, De Filippi P, Danesino C.
    Int J Paediatr Dent; 2008 Nov; 18(6):441-5. PubMed ID: 18445003
    [Abstract] [Full Text] [Related]

  • 22. Benign hereditary chorea: phenotype, prognosis, therapeutic outcome and long term follow-up in a large series with new mutations in the TITF1/NKX2-1 gene.
    Gras D, Jonard L, Roze E, Chantot-Bastaraud S, Koht J, Motte J, Rodriguez D, Louha M, Caubel I, Kemlin I, Lion-François L, Goizet C, Guillot L, Moutard ML, Epaud R, Héron B, Charles P, Tallot M, Camuzat A, Durr A, Polak M, Devos D, Sanlaville D, Vuillaume I, Billette de Villemeur T, Vidailhet M, Doummar D.
    J Neurol Neurosurg Psychiatry; 2012 Oct; 83(10):956-62. PubMed ID: 22832740
    [Abstract] [Full Text] [Related]

  • 23. Functional characterization of two novel mutations in TTF-1/NKX2.1 homeodomain in patients with benign hereditary chorea.
    Provenzano C, Zamboni M, Veneziano L, Mantuano E, Garavaglia B, Zorzi G, Pagonabarraga J, Giunti P, Civitareale D.
    J Neurol Sci; 2016 Jan 15; 360():78-83. PubMed ID: 26723978
    [Abstract] [Full Text] [Related]

  • 24. Candidate locus for chorea and tic disorders at 15q?
    Jankovic J, Deng H.
    Pediatr Neurol; 2007 Jul 15; 37(1):70-3. PubMed ID: 17628228
    [Abstract] [Full Text] [Related]

  • 25. Brain-lung-thyroid disease: clinical features of a kindred with a novel thyroid transcription factor 1 mutation.
    Ferrara JM, Adam OR, Kirwin SM, Houghton DJ, Shepherd C, Vinette KM, Litvan I.
    J Child Neurol; 2012 Jan 15; 27(1):68-73. PubMed ID: 21813802
    [Abstract] [Full Text] [Related]

  • 26. A novel nonsense mutation in the TITF-1 gene in a Japanese family with benign hereditary chorea.
    Nakamura K, Sekijima Y, Nagamatsu K, Yoshida K, Ikeda S.
    J Neurol Sci; 2012 Feb 15; 313(1-2):189-92. PubMed ID: 21982616
    [Abstract] [Full Text] [Related]

  • 27. 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]

  • 28. Benign hereditary chorea.
    Kleiner-Fisman G.
    Handb Clin Neurol; 2011 Mar 28; 100():199-212. PubMed ID: 21496579
    [Abstract] [Full Text] [Related]

  • 29. 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 Mar 28; 77(3):146-51. PubMed ID: 22488412
    [Abstract] [Full Text] [Related]

  • 30. "Jerky" dystonia in children: spectrum of phenotypes and genetic testing.
    Asmus F, Langseth A, Doherty E, Nestor T, Munz M, Gasser T, Lynch T, King MD.
    Mov Disord; 2009 Apr 15; 24(5):702-9. PubMed ID: 19117362
    [Abstract] [Full Text] [Related]

  • 31. Benign hereditary chorea related to NKX2.1: expansion of the genotypic and phenotypic spectrum.
    Peall KJ, Lumsden D, Kneen R, Madhu R, Peake D, Gibbon F, Lewis H, Hedderly T, Meyer E, Robb SA, Lynch B, King MD, Lin JP, Morris HR, Jungbluth H, Kurian MA.
    Dev Med Child Neurol; 2014 Jul 15; 56(7):642-8. PubMed ID: 24171694
    [Abstract] [Full Text] [Related]

  • 32. A 223-kb de novo deletion of PAX9 in a patient with oligodontia.
    Haldeman-Englert CR, Biser A, Zackai EH, Ming JE.
    J Craniofac Surg; 2010 May 15; 21(3):837-9. PubMed ID: 20485064
    [Abstract] [Full Text] [Related]

  • 33. Novel locus for benign hereditary chorea with adult onset maps to chromosome 8q21.3 q23.3.
    Shimohata T, Hara K, Sanpei K, Nunomura J, Maeda T, Kawachi I, Kanazawa M, Kasuga K, Miyashita A, Kuwano R, Hirota K, Tsuji S, Onodera O, Nishizawa M, Honma Y.
    Brain; 2007 Sep 15; 130(Pt 9):2302-9. PubMed ID: 17405764
    [Abstract] [Full Text] [Related]

  • 34. 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]

  • 35. 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 15; 60(5):257-260. PubMed ID: 28286255
    [Abstract] [Full Text] [Related]

  • 36. Nonsense mutation in TITF1 in a Portuguese family with benign hereditary chorea.
    Costa MC, Costa C, Silva AP, Evangelista P, Santos L, Ferro A, Sequeiros J, Maciel P.
    Neurogenetics; 2005 Dec 15; 6(4):209-15. PubMed ID: 16220345
    [Abstract] [Full Text] [Related]

  • 37. Functional analysis of Nkx2.1 and Pax9 for calcitonin gene transcription.
    Suzuki M, Katagiri N, Ueda M, Tanaka S.
    Gen Comp Endocrinol; 2007 Dec 15; 152(2-3):259-66. PubMed ID: 17412341
    [Abstract] [Full Text] [Related]

  • 38. A Case of Chorea with Slow Saccades Caused by NKX2-1 Mutation.
    Vercammen J, Terryn J, Van Daele S, Vermeer S, Vandenberghe W.
    Mov Disord Clin Pract; 2024 Jun 15; 11(6):738-741. PubMed ID: 38454250
    [No Abstract] [Full Text] [Related]

  • 39. Ataxia without telangiectasia masquerading as benign hereditary chorea.
    Klein C, Wenning GK, Quinn NP, Marsden CD.
    Mov Disord; 1996 Mar 15; 11(2):217-20. PubMed ID: 8684395
    [Abstract] [Full Text] [Related]

  • 40. 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 15; 18(9):1005-9. PubMed ID: 18788921
    [Abstract] [Full Text] [Related]

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