145 related articles for article (PubMed ID: 28954305)
1. 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]
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. 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]
4. High-resolution computed tomography findings of thyroid transcription factor 1 deficiency (NKX2-1 mutations).
LeMoine BD; Browne LP; Liptzin DR; Deterding RR; Galambos C; Weinman JP
Pediatr Radiol; 2019 Jun; 49(7):869-875. PubMed ID: 30927038
[TBL] [Abstract][Full Text] [Related]
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. PubMed ID: 24129101
[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. A Novel Mutation in NKX2-1 Shows Dominant-Negative Effects Only in the Presence of PAX8.
Shinohara H; Takagi M; Ito K; Shimizu E; Fukuzawa R; Hasegawa T
Thyroid; 2018 Aug; 28(8):1071-1073. PubMed ID: 29882472
[TBL] [Abstract][Full Text] [Related]
8. 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]
9. 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]
10. 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]
11. Next-generation sequencing of NKX2.1, FOXE1, PAX8, NKX2.5, and TSHR in 100 Chinese patients with congenital hypothyroidism and athyreosis.
Wang F; Liu C; Jia X; Liu X; Xu Y; Yan S; Jia X; Huang Z; Liu S; Gu M
Clin Chim Acta; 2017 Jul; 470():36-41. PubMed ID: 28455095
[TBL] [Abstract][Full Text] [Related]
12. 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]
13. 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]
14. 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]
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. PubMed ID: 21450989
[TBL] [Abstract][Full Text] [Related]
16. A case of brain
Liang R; Ou S; Ding Y; Liu C
Zhong Nan Da Xue Xue Bao Yi Xue Ban; 2022 Mar; 47(3):396-400. PubMed ID: 35545334
[TBL] [Abstract][Full Text] [Related]
17. Screening for mutations in transcription factors in a Czech cohort of 170 patients with congenital and early-onset hypothyroidism: identification of a novel PAX8 mutation in dominantly inherited early-onset non-autoimmune hypothyroidism.
Al Taji E; Biebermann H; Límanová Z; Hníková O; Zikmund J; Dame C; Grüters A; Lebl J; Krude H
Eur J Endocrinol; 2007 May; 156(5):521-9. PubMed ID: 17468187
[TBL] [Abstract][Full Text] [Related]
18. Heterogeneity of lung disease associated with NK2 homeobox 1 mutations.
Nattes E; Lejeune S; Carsin A; Borie R; Gibertini I; Balinotti J; Nathan N; Marchand-Adam S; Thumerelle C; Fauroux B; Bosdure E; Houdouin V; Delestrain C; Louha M; Couderc R; De Becdelievre A; Fanen P; Funalot B; Crestani B; Deschildre A; Dubus JC; Epaud R
Respir Med; 2017 Aug; 129():16-23. PubMed ID: 28732825
[TBL] [Abstract][Full Text] [Related]
19. 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]
20. Genetic analyses in a cohort of Portuguese pediatric patients with congenital hypothyroidism.
Santos-Silva R; Rosário M; Grangeia A; Costa C; Castro-Correia C; Alonso I; Leão M; Fontoura M
J Pediatr Endocrinol Metab; 2019 Nov; 32(11):1265-1273. PubMed ID: 31430255
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]