103 related articles for article (PubMed ID: 38757609)
1. A Novel Missense Variant in the NKX2-1
Villafuerte B; Carrasco-López C; Herranz A; Garzón L; Simón R; Natera-de-Benito D; Alikhani P; Tenorio J; García-Santiago F; Solis M; Del-Pozo Á; Lapunzina P; Ortigoza-Escobar JD; Santisteban P; Moreno JC
Thyroid; 2024 May; ():. PubMed ID: 38757609
[No Abstract] [Full Text] [Related]
2. TAZ/WWTR1 Mediates the Pulmonary Effects of NKX2-1 Mutations in Brain-Lung-Thyroid Syndrome.
Moya CM; Zaballos MA; Garzón L; Luna C; Simón R; Yaffe MB; Gallego E; Santisteban P; Moreno JC
J Clin Endocrinol Metab; 2018 Mar; 103(3):839-852. PubMed ID: 29294041
[TBL] [Abstract][Full Text] [Related]
3. 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]
4. 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]
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
Hum Mol Genet; 2009 Jun; 18(12):2266-76. PubMed ID: 19336474
[TBL] [Abstract][Full Text] [Related]
6. Mutations in TAZ/WWTR1, a co-activator of NKX2.1 and PAX8 are not a frequent cause of thyroid dysgenesis.
Ferrara AM; De Sanctis L; Rossi G; Capuano S; Del Prete G; Zampella E; Gianino P; Corrias A; Fenzi G; Zannini M; Macchia PE
J Endocrinol Invest; 2009 Mar; 32(3):238-41. PubMed ID: 19542741
[TBL] [Abstract][Full Text] [Related]
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. PubMed ID: 24453141
[TBL] [Abstract][Full Text] [Related]
8. Epigenetic Changes During Human Thyroid Cell Differentiation.
Ma R; Morshed S; Latif R; Davies TF
Thyroid; 2020 Nov; 30(11):1666-1675. PubMed ID: 32345138
[No Abstract] [Full Text] [Related]
9. Deciphering an isolated lung phenotype of NKX2-1 frameshift pathogenic variant.
Delestrain C; Aissat A; Nattes E; Gibertini I; Lacroze V; Simon S; Decrouy X; de Becdelièvre A; Fanen P; Epaud R
Front Pediatr; 2022; 10():978598. PubMed ID: 36733766
[TBL] [Abstract][Full Text] [Related]
10. 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]
11. The Brain-Lung-Thyroid syndrome (BLTS): A novel deletion in chromosome 14q13.2-q21.1 expands the phenotype to humoral immunodeficiency.
Villafuerte B; Natera-de-Benito D; González A; Mori MA; Palomares M; Nevado J; García-Miñaur S; Lapunzina P; González-Granado LI; Allende LM; Moreno JC
Eur J Med Genet; 2018 Jul; 61(7):393-398. PubMed ID: 29477862
[TBL] [Abstract][Full Text] [Related]
12. 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]
13. Chiari Malformation Type I in a Patient with a Novel
Gonçalves D; Lourenço L; Guardiano M; Castro-Correia C; Sampaio M; Leão M
J Pediatr Neurosci; 2019; 14(3):169-172. PubMed ID: 31649781
[TBL] [Abstract][Full Text] [Related]
14. Functional characterization of two novel NKX2-1 frameshift variants that cause pulmonary surfactant dysfunction.
Wang H; Jiang G; Dai D; Hong D; Zhou W; Qian L
Pediatr Res; 2024 Feb; 95(3):744-751. PubMed ID: 37935886
[TBL] [Abstract][Full Text] [Related]
15. Transcriptional defect of an inherited NKX2-5 haplotype comprising a SNP, a nonsynonymous and a synonymous mutation, associated with human congenital heart disease.
Reamon-Buettner SM; Sattlegger E; Ciribilli Y; Inga A; Wessel A; Borlak J
PLoS One; 2013; 8(12):e83295. PubMed ID: 24376681
[TBL] [Abstract][Full Text] [Related]
16. 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
J Clin Endocrinol Metab; 2009 Jan; 94(1):197-203. PubMed ID: 18957494
[TBL] [Abstract][Full Text] [Related]
17. Missense mutation in the transcription factor NKX2-5: a novel molecular event in the pathogenesis of thyroid dysgenesis.
Dentice M; Cordeddu V; Rosica A; Ferrara AM; Santarpia L; Salvatore D; Chiovato L; Perri A; Moschini L; Fazzini C; Olivieri A; Costa P; Stoppioni V; Baserga M; De Felice M; Sorcini M; Fenzi G; Di Lauro R; Tartaglia M; Macchia PE
J Clin Endocrinol Metab; 2006 Apr; 91(4):1428-33. PubMed ID: 16418214
[TBL] [Abstract][Full Text] [Related]
18. 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
J Med Genet; 2014 Jun; 51(6):375-87. PubMed ID: 24714694
[TBL] [Abstract][Full Text] [Related]
19. TAZ Induction Directs Differentiation of Thyroid Follicular Cells from Human Embryonic Stem Cells.
Ma R; Morshed SA; Latif R; Davies TF
Thyroid; 2017 Feb; 27(2):292-299. PubMed ID: 27829313
[TBL] [Abstract][Full Text] [Related]
20. 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. PubMed ID: 23169673
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]