These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
141 related articles for article (PubMed ID: 29477862)
1. 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]
2. 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]
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 Eur J Med Genet; 2017 May; 60(5):257-260. PubMed ID: 28286255 [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. 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]
6. Haploinsufficiency of NKX2-1 in Brain-Lung-Thyroid Syndrome with Additional Multiple Pituitary Dysfunction. Prasad R; Nicholas AK; Schoenmakers N; Barton J Horm Res Paediatr; 2019; 92(5):340-344. PubMed ID: 31707387 [TBL] [Abstract][Full Text] [Related]
7. 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]
9. Hypoxaemia and interstitial lung disease in an infant with hypothyroidism and hypotonia. Lynn MM; Simon D; Kasi AS BMJ Case Rep; 2020 Dec; 13(12):. PubMed ID: 33370995 [TBL] [Abstract][Full Text] [Related]
11. NKX2.1 run-on mutation associated to familial brain-lung-thyroid syndrome. Cavaliere E; Gortan AJ; Passon N; Fabbro D; Marin D; Carecchio M; Baldan F; Credendino SC; Gallo R; Cogo P; Damante G; De Vita G Clin Genet; 2021 Jul; 100(1):114-116. PubMed ID: 33778944 [TBL] [Abstract][Full Text] [Related]
12. Novel Mutations in the NKX2.1 gene and the PAX8 gene in a Boy with Brain-Lung-Thyroid Syndrome. Hermanns P; Kumorowicz-Czoch M; Grasberger H; Refetoff S; Pohlenz J Exp Clin Endocrinol Diabetes; 2018 Feb; 126(2):85-90. PubMed ID: 28954305 [TBL] [Abstract][Full Text] [Related]
13. [Analysis of clinical characteristics and variant of NKX2-1 gene in a Chinese boy with Brain-Lung-Thyroid syndrome]. Dong R; Liu Y; Shi B; Huang Y; Lyu Y; Liu Y Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2024 Aug; 41(8):947-952. PubMed ID: 39097277 [TBL] [Abstract][Full Text] [Related]
14. The Movement Disorder of Brain-Lung-Thyroid Syndrome Can be Responsive to Methylphenidate. Gauquelin L; Tran LT; Chouinard S; Bernard G Tremor Other Hyperkinet Mov (N Y); 2017; 7():508. PubMed ID: 29109906 [No Abstract] [Full Text] [Related]
15. Combined mutations of NKX2-1 and surfactant protein C genes for refractory low oxyhemoglobin saturation and interstitial pneumonia: A case report. Gu R; Ye G; Zhou Y; Jiang Z Medicine (Baltimore); 2020 Mar; 99(12):e19650. PubMed ID: 32195974 [TBL] [Abstract][Full Text] [Related]
16. 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]
17. Deletion of conserved non-coding sequences downstream from NKX2-1: A novel disease-causing mechanism for benign hereditary chorea. Liao J; Coffman KA; Locker J; Padiath QS; Nmezi B; Filipink RA; Hu J; Sathanoori M; Madan-Khetarpal S; McGuire M; Schreiber A; Moran R; Friedman N; Hoffner L; Rajkovic A; Yatsenko SA; Surti U Mol Genet Genomic Med; 2021 Apr; 9(4):e1647. PubMed ID: 33666368 [TBL] [Abstract][Full Text] [Related]
18. [Brain-lung-thyroid syndrome in a newborn with deletion 14q12-q21.1]. Villamil-Osorio M; Yunis LK; Quintero L; Restrepo-Gualteros S; Yunis JJ; Jaramillo L; Agudelo BI; Ladino Y Andes Pediatr; 2021 Dec; 92(6):930-936. PubMed ID: 35506806 [TBL] [Abstract][Full Text] [Related]
19. A novel 14q13.1-21.1 deletion identified by CNV-Seq in a patient with brain-lung-thyroid syndrome, tooth agenesis and immunodeficiency. Hu X; Liu J; Guo R; Guo J; Zhao Z; Li W; Xu B; Hao C Mol Cytogenet; 2019; 12():51. PubMed ID: 31890031 [TBL] [Abstract][Full Text] [Related]
20. 14q13 distal microdeletion encompassing NKX2-1 and PAX9: Patient report and refinement of the associated phenotype. Gentile M; De Mattia D; Pansini A; Schettini F; Buonadonna AL; Capozza M; Ficarella R; Laforgia N Am J Med Genet A; 2016 Jul; 170(7):1884-8. PubMed ID: 27148860 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]