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 *

121 related articles for article (PubMed ID: 23361500)

  • 1. 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; 33(2):157-60. PubMed ID: 23361500
    [TBL] [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
    [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. 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]  

  • 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. 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]  

  • 7. 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]  

  • 8. 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]  

  • 9. 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]  

  • 10. 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]  

  • 11. 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]  

  • 12. Respiratory Distress, Congenital Hypothyroidism and Hypotonia in a Newborn.
    Jovien S; Borie R; Doummar D; Clement A; Nathan N
    Respiration; 2016; 92(3):188-91. PubMed ID: 27595265
    [No Abstract]   [Full Text] [Related]  

  • 13. Combined mutations of NKX2-1 and surfactant protein C genes for refractory low oxyhemoglobin saturation and interstitial pneumonia: A case report.
    Gu R; Ye G; Zhou Y; Jiang Z
    Medicine (Baltimore); 2020 Mar; 99(12):e19650. PubMed ID: 32195974
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Deletion of thyroid transcription factor-1 gene in an infant with neonatal thyroid dysfunction and respiratory failure.
    Devriendt K; Vanhole C; Matthijs G; de Zegher F
    N Engl J Med; 1998 Apr; 338(18):1317-8. PubMed ID: 9565498
    [No Abstract]   [Full Text] [Related]  

  • 15. 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]  

  • 16. 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]  

  • 17. 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]  

  • 18. Acinar Dysplasia in a Full-Term Newborn with a NKX2.1 Variant.
    Soreze Y; Nathan N; Jegard J; Hervieux E; Clermidi P; Sileo C; Louvrier C; Legendre M; Coulomb L'Herminé A
    Neonatology; 2024; 121(1):133-136. PubMed ID: 38035569
    [TBL] [Abstract][Full Text] [Related]  

  • 19. 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]  

  • 20. NKX2.1 run-on mutation associated to familial brain-lung-thyroid syndrome.
    Cavaliere E; Gortan AJ; Passon N; Fabbro D; Marin D; Carecchio M; Baldan F; Credendino SC; Gallo R; Cogo P; Damante G; De Vita G
    Clin Genet; 2021 Jul; 100(1):114-116. PubMed ID: 33778944
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 7.