Similar articles for PMID: 11854319

Year	Number of Results
1993	1
1997	1
1998	1
2000	1
2002	6
2003	4
2004	6
2005	6
2006	9
2007	3
2008	5
2009	5
2010	5
2011	7
2012	10
2013	11
2014	9
2015	5
2016	3
2017	8
2018	11
2019	5
2020	3
2021	5
2022	5
2023	1
2024	0

1

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. Krude H, et al. J Clin Invest. 2002 Feb;109(4):475-80. doi: 10.1172/JCI14341. J Clin Invest. 2002. PMID: 11854319 Free PMC article.

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. Doyle DA, et al. J Pediatr. 2004 Aug;145(2):190-3. doi: 10.1016/j.jpeds.2004.04.011. J Pediatr. 2004. PMID: 15289765

3

Psychosis, short stature in benign hereditary chorea: a novel thyroid transcription factor-1 mutation.

Glik A, Vuillaume I, Devos D, Inzelberg R. Glik A, et al. Mov Disord. 2008 Sep 15;23(12):1744-7. doi: 10.1002/mds.22215. Mov Disord. 2008. PMID: 18661567

4

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. Uematsu M, et al. J Neurol Sci. 2012 Apr 15;315(1-2):77-81. doi: 10.1016/j.jns.2011.11.025. Epub 2011 Dec 12. J Neurol Sci. 2012. PMID: 22166853

5

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. Moya CM, et al. J Clin Endocrinol Metab. 2006 May;91(5):1832-41. doi: 10.1210/jc.2005-1497. Epub 2006 Feb 28. J Clin Endocrinol Metab. 2006. PMID: 16507635 Free article.

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. Maquet E, et al. J Clin Endocrinol Metab. 2009 Jan;94(1):197-203. doi: 10.1210/jc.2008-1402. Epub 2008 Oct 28. J Clin Endocrinol Metab. 2009. PMID: 18957494

7

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. Teissier R, et al. Horm Res Paediatr. 2012;77(3):146-51. doi: 10.1159/000337214. Epub 2012 Apr 5. Horm Res Paediatr. 2012. PMID: 22488412

8

Functional characterization of a novel mutation in TITF-1 in a patient with benign hereditary chorea.

Provenzano C, Veneziano L, Appleton R, Frontali M, Civitareale D. Provenzano C, et al. J Neurol Sci. 2008 Jan 15;264(1-2):56-62. doi: 10.1016/j.jns.2007.06.056. Epub 2007 Sep 4. J Neurol Sci. 2008. PMID: 17765926

9

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. Iwatani N, et al. J Pediatr. 2000 Aug;137(2):272-6. doi: 10.1067/mpd.2000.107111. J Pediatr. 2000. PMID: 10931427

10

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. Shetty VB, et al. J Pediatr Endocrinol Metab. 2014 Mar;27(3-4):373-8. doi: 10.1515/jpem-2013-0109. J Pediatr Endocrinol Metab. 2014. PMID: 24129101

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