Similar articles for PMID: 24714694

Year	Number of Results
1998	1
1999	1
2000	3
2002	3
2003	2
2004	4
2005	2
2006	3
2007	3
2008	4
2009	5
2010	7
2011	8
2012	10
2013	8
2014	12
2015	6
2016	6
2017	3
2018	9
2019	3
2021	3
2022	4
2023	1
2024	0

1

Comprehensive genotyping and clinical characterisation reveal 27 novel NKX2-1 mutations and expand the phenotypic spectrum.

Thorwarth A, Schnittert-Hübener S, Schrumpf P, Müller I, Jyrch S, Dame C, Biebermann H, Kleinau G, Katchanov J, Schuelke M, Ebert G, Steininger A, Bönnemann C, Brockmann K, Christen HJ, Crock P, deZegher F, Griese M, Hewitt J, Ivarsson S, Hübner C, Kapelari K, Plecko B, Rating D, Stoeva I, Ropers HH, Grüters A, Ullmann R, Krude H. Thorwarth A, et al. J Med Genet. 2014 Jun;51(6):375-87. doi: 10.1136/jmedgenet-2013-102248. Epub 2014 Apr 8. J Med Genet. 2014. PMID: 24714694 Free PMC article.

2

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. Hamvas A, et al. Chest. 2013 Sep;144(3):794-804. doi: 10.1378/chest.12-2502. Chest. 2013. PMID: 23430038 Free PMC article.

3

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. Kharbanda M, et al. Eur J Med Genet. 2017 May;60(5):257-260. doi: 10.1016/j.ejmg.2017.03.001. Epub 2017 Mar 7. Eur J Med Genet. 2017. PMID: 28286255

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. Barnett CP, et al. Am J Med Genet A. 2012 Dec;158A(12):3168-73. doi: 10.1002/ajmg.a.35456. Epub 2012 Nov 20. Am J Med Genet A. 2012. PMID: 23169673

5

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. Carré A, et al. Hum Mol Genet. 2009 Jun 15;18(12):2266-76. doi: 10.1093/hmg/ddp162. Epub 2009 Mar 31. Hum Mol Genet. 2009. PMID: 19336474

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. 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

7

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.

8

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. Peall KJ, et al. Dev Med Child Neurol. 2014 Jul;56(7):642-8. doi: 10.1111/dmcn.12323. Epub 2013 Oct 31. Dev Med Child Neurol. 2014. PMID: 24171694 Free article.

9

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. Al Taji E, et al. Eur J Endocrinol. 2007 May;156(5):521-9. doi: 10.1530/EJE-06-0709. Eur J Endocrinol. 2007. PMID: 17468187

10

NKX2.1-Related Disorders: a novel mutation with mild clinical presentation.

Monti S, Nicoletti A, Cantasano A, Krude H, Cassio A. Monti S, et al. Ital J Pediatr. 2015 Jun 24;41:45. doi: 10.1186/s13052-015-0150-6. Ital J Pediatr. 2015. PMID: 26103969 Free PMC article.

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