Format
Sort by
Items per page

Send to

Choose Destination

Links from PubMed

Items: 1 to 20 of 94

1.

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. doi: 10.1111/dmcn.12323. Epub 2013 Oct 31.

2.

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. doi: 10.1136/jnnp-2012-302505. Epub 2012 Jul 24.

PMID:
22832740
3.

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. doi: 10.1159/000337214. Epub 2012 Apr 5.

PMID:
22488412
4.

A novel NKX2.1 mutation in a family with hypothyroidism and benign hereditary chorea.

Ferrara AM, De Michele G, Salvatore E, Di Maio L, Zampella E, Capuano S, Del Prete G, Rossi G, Fenzi G, Filla A, Macchia PE.

Thyroid. 2008 Sep;18(9):1005-9. doi: 10.1089/thy.2008.0085.

PMID:
18788921
5.

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. doi: 10.1515/jpem-2013-0109.

PMID:
24129101
6.

A novel de novo mutation of the TITF1/NKX2-1 gene causing ataxia, benign hereditary chorea, hypothyroidism and a pituitary mass in a UK family and review of the literature.

Veneziano L, Parkinson MH, Mantuano E, Frontali M, Bhatia KP, Giunti P.

Cerebellum. 2014 Oct;13(5):588-95. doi: 10.1007/s12311-014-0570-7. Review.

7.

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. doi: 10.1177/0883073813518243. Epub 2014 Jan 21.

PMID:
24453141
8.

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 15;23(12):1744-7. doi: 10.1002/mds.22215.

PMID:
18661567
9.

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.

J Neurol Sci. 2008 Jan 15;264(1-2):56-62. Epub 2007 Sep 4.

PMID:
17765926
10.

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.

Hum Mol Genet. 2009 Jun 15;18(12):2266-76. doi: 10.1093/hmg/ddp162. Epub 2009 Mar 31.

PMID:
19336474
11.

Functional characterization of two novel mutations in TTF-1/NKX2.1 homeodomain in patients with benign hereditary chorea.

Provenzano C, Zamboni M, Veneziano L, Mantuano E, Garavaglia B, Zorzi G, Pagonabarraga J, Giunti P, Civitareale D.

J Neurol Sci. 2016 Jan 15;360:78-83. doi: 10.1016/j.jns.2015.11.050. Epub 2015 Nov 27.

PMID:
26723978
12.

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. doi: 10.1378/chest.12-2502.

13.

[Chorea due to TITF1/NKX2-1 mutation: phenotypical description and therapeutic response in a family].

Salvado M, Boronat-Guerrero S, Hernández-Vara J, Álvarez-Sabin J.

Rev Neurol. 2013 May 16;56(10):515-20. Review. Spanish.

14.

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.

15.

NKX2-1-Related Disorders.

Patel NJ, Jankovic J.

In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Ledbetter N, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017.
2014 Feb 20 [updated 2016 Jul 29].

16.

Benign hereditary chorea: dopaminergic brain imaging in patients with a novel intronic NKX2.1 gene mutation.

Konishi T, Kono S, Fujimoto M, Terada T, Matsushita K, Ouchi Y, Miyajima H.

J Neurol. 2013 Jan;260(1):207-13. doi: 10.1007/s00415-012-6618-z. Epub 2012 Jul 24.

PMID:
22825795
17.

Benign hereditary chorea: an update.

Inzelberg R, Weinberger M, Gak E.

Parkinsonism Relat Disord. 2011 Jun;17(5):301-7. doi: 10.1016/j.parkreldis.2011.01.002. Epub 2011 Feb 3. Review.

PMID:
21292530
18.

Benign hereditary chorea: clinical, neuroimaging, and genetic findings.

Mahajnah M, Inbar D, Steinmetz A, Heutink P, Breedveld GJ, Straussberg R.

J Child Neurol. 2007 Oct;22(10):1231-4.

PMID:
17940252
19.

TITF-1 gene mutation in a case of sporadic non-progressive chorea. Response to levodopa treatment.

Fons C, Rizzu P, Garcia-Cazorla A, Martorell L, Ormazabal A, Artuch R, Campistol J, Fernandez-Alvarez E.

Brain Dev. 2012 Mar;34(3):255-7. doi: 10.1016/j.braindev.2011.04.007. Epub 2011 May 8.

PMID:
21555194
20.

A novel TITF-1 mutation causes benign hereditary chorea with response to levodopa.

Asmus F, Horber V, Pohlenz J, Schwabe D, Zimprich A, Munz M, Schöning M, Gasser T.

Neurology. 2005 Jun 14;64(11):1952-4.

PMID:
15955952

Supplemental Content

Support Center