These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

163 related articles for article (PubMed ID: 22488412)

  • 1. 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; 77(3):146-51. PubMed ID: 22488412
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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; 27(3-4):373-8. PubMed ID: 24129101
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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; 60(5):257-260. PubMed ID: 28286255
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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; 18(12):2266-76. PubMed ID: 19336474
    [TBL] [Abstract][Full Text] [Related]  

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

  • 6. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Identification and functional characterization of a novel mutation in the NKX2-1 gene: comparison with the data in the literature.
    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
    Thyroid; 2013 Jun; 23(6):675-82. PubMed ID: 23379327
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 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; 56(7):642-8. PubMed ID: 24171694
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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; 158A(12):3168-73. PubMed ID: 23169673
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Identification of deletions in children with congenital hypothyroidism and thyroid dysgenesis with the use of multiplex ligation-dependent probe amplification.
    Kumorowicz-Czoch M; Madetko-Talowska A; Tylek-Lemanska D; Pietrzyk JJ; Starzyk J
    J Pediatr Endocrinol Metab; 2015 Jan; 28(1-2):171-6. PubMed ID: 25153580
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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; 18(9):1005-9. PubMed ID: 18788921
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Growth hormone deficiency in a child with benign hereditary chorea caused by a
    Trevisani V; Predieri B; Madeo SF; Fusco C; Garavelli L; Caraffi S; Iughetti L
    J Pediatr Endocrinol Metab; 2022 Mar; 35(3):411-415. PubMed ID: 34710315
    [TBL] [Abstract][Full Text] [Related]  

  • 14. High-resolution computed tomography findings of thyroid transcription factor 1 deficiency (NKX2-1 mutations).
    LeMoine BD; Browne LP; Liptzin DR; Deterding RR; Galambos C; Weinman JP
    Pediatr Radiol; 2019 Jun; 49(7):869-875. PubMed ID: 30927038
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Altered pituitary morphology as a sign of benign hereditary chorea caused by TITF1/NKX2.1 mutations.
    Thust S; Veneziano L; Parkinson MH; Bhatia KP; Mantuano E; Gonzalez-Robles C; Davagnanam I; Giunti P
    Neurogenetics; 2022 Apr; 23(2):91-102. PubMed ID: 35079915
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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; 49(3):E42-4. PubMed ID: 23997037
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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; 96(6):F453-6. PubMed ID: 20584796
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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; 23(12):1744-7. PubMed ID: 18661567
    [TBL] [Abstract][Full Text] [Related]  

  • 19. The Brain-Lung-Thyroid syndrome (BLTS): A novel deletion in chromosome 14q13.2-q21.1 expands the phenotype to humoral immunodeficiency.
    Villafuerte B; Natera-de-Benito D; González A; Mori MA; Palomares M; Nevado J; García-Miñaur S; Lapunzina P; González-Granado LI; Allende LM; Moreno JC
    Eur J Med Genet; 2018 Jul; 61(7):393-398. PubMed ID: 29477862
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 9.