142 related articles for article (PubMed ID: 26723978)
1. 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; 360():78-83. PubMed ID: 26723978
[TBL] [Abstract][Full Text] [Related]
2. 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. PubMed ID: 24453141
[TBL] [Abstract][Full Text] [Related]
3. 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; 264(1-2):56-62. PubMed ID: 17765926
[TBL] [Abstract][Full Text] [Related]
4. 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]
5. 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
Eur J Med Genet; 2017 May; 60(5):257-260. PubMed ID: 28286255
[TBL] [Abstract][Full Text] [Related]
6. 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. PubMed ID: 24129101
[TBL] [Abstract][Full Text] [Related]
7. 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. PubMed ID: 18788921
[TBL] [Abstract][Full Text] [Related]
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
Dev Med Child Neurol; 2014 Jul; 56(7):642-8. PubMed ID: 24171694
[TBL] [Abstract][Full Text] [Related]
9. 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]
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; 18(12):2266-76. PubMed ID: 19336474
[TBL] [Abstract][Full Text] [Related]
11. 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]
12. 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]
13. 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. PubMed ID: 21555194
[TBL] [Abstract][Full Text] [Related]
14. Growth hormone deficiency in a child with benign hereditary chorea caused by a
Trevisani V; Predieri B; Madeo SF; Fusco C; Garavelli L; Caraffi S; Iughetti L
J Pediatr Endocrinol Metab; 2022 Mar; 35(3):411-415. PubMed ID: 34710315
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. Clinical differentiation of genetically proven benign hereditary chorea and myoclonus-dystonia.
Asmus F; Devlin A; Munz M; Zimprich A; Gasser T; Chinnery PF
Mov Disord; 2007 Oct; 22(14):2104-9. PubMed ID: 17702043
[TBL] [Abstract][Full Text] [Related]
17. A germline mutation (A339V) in thyroid transcription factor-1 (TITF-1/NKX2.1) in patients with multinodular goiter and papillary thyroid carcinoma.
Ngan ES; Lang BH; Liu T; Shum CK; So MT; Lau DK; Leon TY; Cherny SS; Tsai SY; Lo CY; Khoo US; Tam PK; Garcia-Barceló MM
J Natl Cancer Inst; 2009 Feb; 101(3):162-75. PubMed ID: 19176457
[TBL] [Abstract][Full Text] [Related]
18. 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; 64(11):1952-4. PubMed ID: 15955952
[TBL] [Abstract][Full Text] [Related]
19. Benign hereditary chorea: an update.
Inzelberg R; Weinberger M; Gak E
Parkinsonism Relat Disord; 2011 Jun; 17(5):301-7. PubMed ID: 21292530
[TBL] [Abstract][Full Text] [Related]
20. Thyroid transcription factor-1 (TTF-1/Nkx2.1/TITF1) gene regulation in the lung.
Boggaram V
Clin Sci (Lond); 2009 Jan; 116(1):27-35. PubMed ID: 19037882
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
