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.
293 related articles for article (PubMed ID: 11854319)
21. Ongoing expression of Nkx2.1 in the postnatal mouse forebrain: potential for understanding NKX2.1 haploinsufficiency in humans? Magno L; Catanzariti V; Nitsch R; Krude H; Naumann T Brain Res; 2009 Dec; 1304():164-86. PubMed ID: 19766601 [TBL] [Abstract][Full Text] [Related]
22. 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]
23. Screening for mutations in transcription factors in a Czech cohort of 170 patients with congenital and early-onset hypothyroidism: identification of a novel PAX8 mutation in dominantly inherited early-onset non-autoimmune hypothyroidism. Al Taji E; Biebermann H; Límanová Z; Hníková O; Zikmund J; Dame C; Grüters A; Lebl J; Krude H Eur J Endocrinol; 2007 May; 156(5):521-9. PubMed ID: 17468187 [TBL] [Abstract][Full Text] [Related]
24. Compound heterozygosity for a novel hemizygous missense mutation and a partial deletion affecting the catalytic core of the H2O2-generating enzyme DUOX2 associated with transient congenital hypothyroidism. Hoste C; Rigutto S; Van Vliet G; Miot F; De Deken X Hum Mutat; 2010 Apr; 31(4):E1304-19. PubMed ID: 20187165 [TBL] [Abstract][Full Text] [Related]
25. 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]
26. 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]
27. 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]
28. Mild congenital primary hypothyroidism in a Turkish family caused by a homozygous missense thyrotropin receptor (TSHR) gene mutation (A593 V). Fricke-Otto S; Pfarr N; Mühlenberg R; Pohlenz J Exp Clin Endocrinol Diabetes; 2005 Dec; 113(10):582-5. PubMed ID: 16320156 [TBL] [Abstract][Full Text] [Related]
29. Mutations in the iodotyrosine deiodinase gene and hypothyroidism. Moreno JC; Klootwijk W; van Toor H; Pinto G; D'Alessandro M; Lèger A; Goudie D; Polak M; Grüters A; Visser TJ N Engl J Med; 2008 Apr; 358(17):1811-8. PubMed ID: 18434651 [TBL] [Abstract][Full Text] [Related]
30. 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]
32. Hypothyroidism in thyroid transcription factor 1 haploinsufficiency is caused by reduced expression of the thyroid-stimulating hormone receptor. Moeller LC; Kimura S; Kusakabe T; Liao XH; Van Sande J; Refetoff S Mol Endocrinol; 2003 Nov; 17(11):2295-302. PubMed ID: 12907760 [TBL] [Abstract][Full Text] [Related]
33. Persistent mild hypothyroidism associated with novel sequence variants of the DUOX2 gene in two siblings. Vigone MC; Fugazzola L; Zamproni I; Passoni A; Di Candia S; Chiumello G; Persani L; Weber G Hum Mutat; 2005 Oct; 26(4):395. PubMed ID: 16134168 [TBL] [Abstract][Full Text] [Related]
34. New syndromic form of benign hereditary chorea is associated with a deletion of TITF-1 and PAX-9 contiguous genes. Devos D; Vuillaume I; de Becdelievre A; de Martinville B; Dhaenens CM; Cuvellier JC; Cuisset JM; Vallée L; Lemaitre MP; Bourteel H; Hachulla E; Wallaert B; Destée A; Defebvre L; Sablonnière B Mov Disord; 2006 Dec; 21(12):2237-40. PubMed ID: 17044090 [TBL] [Abstract][Full Text] [Related]
35. Clinical and genetic characteristics of congenital hypothyroidism due to mutations in the thyroid peroxidase (TPO) gene in Israelis. Tenenbaum-Rakover Y; Mamanasiri S; Ris-Stalpers C; German A; Sack J; Allon-Shalev S; Pohlenz J; Refetoff S Clin Endocrinol (Oxf); 2007 May; 66(5):695-702. PubMed ID: 17381485 [TBL] [Abstract][Full Text] [Related]
36. Identification of 16 novel mutations in the argininosuccinate synthetase gene and genotype-phenotype correlation in 38 classical citrullinemia patients. Gao HZ; Kobayashi K; Tabata A; Tsuge H; Iijima M; Yasuda T; Kalkanoglu HS; Dursun A; Tokatli A; Coskun T; Trefz FK; Skladal D; Mandel H; Seidel J; Kodama S; Shirane S; Ichida T; Makino S; Yoshino M; Kang JH; Mizuguchi M; Barshop BA; Fuchinoue S; Seneca S; Zeesman S; Knerr I; Rodés M; Wasant P; Yoshida I; De Meirleir L; Abdul Jalil M; Begum L; Horiuchi M; Katunuma N; Nakagawa S; Saheki T Hum Mutat; 2003 Jul; 22(1):24-34. PubMed ID: 12815590 [TBL] [Abstract][Full Text] [Related]
37. Identification of four new PITX2 gene mutations in patients with Axenfeld-Rieger syndrome. Vieira V; David G; Roche O; de la Houssaye G; Boutboul S; Arbogast L; Kobetz A; Orssaud C; Camand O; Schorderet DF; Munier F; Rossi A; Delezoide AL; Marsac C; Ricquier D; Dufier JL; Menasche M; Abitbol M Mol Vis; 2006 Dec; 12():1448-60. PubMed ID: 17167399 [TBL] [Abstract][Full Text] [Related]
38. NKX2.1 regulates transcription of the gene for human bone morphogenetic protein-4 in lung epithelial cells. Zhu NL; Li C; Xiao J; Minoo P Gene; 2004 Feb; 327(1):25-36. PubMed ID: 14960358 [TBL] [Abstract][Full Text] [Related]
39. Novel mutations in epithelial sodium channel (ENaC) subunit genes and phenotypic expression of multisystem pseudohypoaldosteronism. Edelheit O; Hanukoglu I; Gizewska M; Kandemir N; Tenenbaum-Rakover Y; Yurdakök M; Zajaczek S; Hanukoglu A Clin Endocrinol (Oxf); 2005 May; 62(5):547-53. PubMed ID: 15853823 [TBL] [Abstract][Full Text] [Related]
40. Genetic and epigenetic screening for gene alterations of the chromatin-remodeling factor, SMARCA4/BRG1, in lung tumors. Medina PP; Carretero J; Fraga MF; Esteller M; Sidransky D; Sanchez-Cespedes M Genes Chromosomes Cancer; 2004 Oct; 41(2):170-7. PubMed ID: 15287030 [TBL] [Abstract][Full Text] [Related] [Previous] [Next] [New Search]