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 *

79 related articles for article (PubMed ID: 22166853)

  • 1. 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; 315(1-2):77-81. PubMed ID: 22166853
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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]  

  • 3. 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]  

  • 4. 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
    [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. 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]  

  • 7. 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]  

  • 8. 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]  

  • 9. 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]  

  • 10. 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; 94(1):197-203. PubMed ID: 18957494
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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]  

  • 12. 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]  

  • 13. 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; 137(2):272-6. PubMed ID: 10931427
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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]  

  • 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; 144(3):794-804. PubMed ID: 23430038
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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; 27(1):68-73. PubMed ID: 21813802
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Regional cerebral blood flow in children with autism spectrum disorders: a quantitative ⁹⁹mTc-ECD brain SPECT study with statistical parametric mapping evaluation.
    Yang WH; Jing J; Xiu LJ; Cheng MH; Wang X; Bao P; Wang QX
    Chin Med J (Engl); 2011 May; 124(9):1362-6. PubMed ID: 21740749
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Haploinsufficiency of NKX2-1 in Brain-Lung-Thyroid Syndrome with Additional Multiple Pituitary Dysfunction.
    Prasad R; Nicholas AK; Schoenmakers N; Barton J
    Horm Res Paediatr; 2019; 92(5):340-344. PubMed ID: 31707387
    [TBL] [Abstract][Full Text] [Related]  

  • 19. 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; 41():45. PubMed ID: 26103969
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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; 16(2):369-82. PubMed ID: 12064898
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 4.