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.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

144 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]
    of 8.