Format
Sort by
Items per page

Send to

Choose Destination

Links from PubMed

Items: 1 to 20 of 94

1.

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. doi: 10.1089/thy.2012.0267.

PMID:
23379327
2.

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
3.

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
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.

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.

Am J Med Genet A. 2012 Dec;158A(12):3168-73. doi: 10.1002/ajmg.a.35456. Epub 2012 Nov 20.

PMID:
23169673
6.

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. Epub 2006 Feb 28.

PMID:
16507635
7.

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. doi: 10.1016/j.ejmg.2017.03.001. Epub 2017 Mar 7.

PMID:
28286255
8.

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

PMID:
22488412
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 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
12.

NKX2-1 mutations leading to surfactant protein promoter dysregulation cause interstitial lung disease in "Brain-Lung-Thyroid Syndrome".

Guillot L, Carré A, Szinnai G, Castanet M, Tron E, Jaubert F, Broutin I, Counil F, Feldmann D, Clement A, Polak M, Epaud R.

Hum Mutat. 2010 Feb;31(2):E1146-62. doi: 10.1002/humu.21183.

PMID:
20020530
13.

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

Monti S, Nicoletti A, Cantasano A, Krude H, Cassio A.

Ital J Pediatr. 2015 Jun 24;41:45. doi: 10.1186/s13052-015-0150-6.

14.
15.

Mutations in the NKX2.5 gene and the PAX8 promoter in a girl with thyroid dysgenesis.

Hermanns P, Grasberger H, Refetoff S, Pohlenz J.

J Clin Endocrinol Metab. 2011 Jun;96(6):E977-81. doi: 10.1210/jc.2010-2341. Epub 2011 Mar 30.

16.

Fatal neonatal respiratory failure in an infant with congenital hypothyroidism due to haploinsufficiency of the NKX2-1 gene: alteration of pulmonary surfactant homeostasis.

Kleinlein B, Griese M, Liebisch G, Krude H, Lohse P, Aslanidis C, Schmitz G, Peters J, Holzinger A.

Arch Dis Child Fetal Neonatal Ed. 2011 Nov;96(6):F453-6. doi: 10.1136/adc.2009.180448. Epub 2010 Jun 28.

PMID:
20584796
17.

Identification of a novel pax8 gene sequence variant in four members of the same family: from congenital hypothyroidism with thyroid hypoplasia to mild subclinical hypothyroidism.

Vincenzi M, Camilot M, Ferrarini E, Teofoli F, Venturi G, Gaudino R, Cavarzere P, De Marco G, Agretti P, Dimida A, Tonacchera M, Boner A, Antoniazzi F.

BMC Endocr Disord. 2014 Aug 22;14:69. doi: 10.1186/1472-6823-14-69.

18.

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
19.

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. doi: 10.1002/ppul.22788. Epub 2013 Sep 2.

PMID:
23997037
20.

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.

Supplemental Content

Support Center