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.
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. 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]
10. 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]
11. Molecular abnormalities of organogenesis and differentiation of the thyroid gland. Di Lauro R Ann Endocrinol (Paris); 2003 Feb; 64(1):53. PubMed ID: 12707635 [No Abstract] [Full Text] [Related]
12. 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]
13. Mutational analysis of BARHL1 and BARX1 in three new patients with Joubert syndrome. Gould DB; Walter MA Am J Med Genet A; 2004 Dec; 131(2):205-8. PubMed ID: 15487006 [No Abstract] [Full Text] [Related]
14. 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]