259 related articles for article (PubMed ID: 28732825)
1. 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]
2. 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]
3. 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]
4. 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]
5. 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. PubMed ID: 23997037
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. Characteristics of disorders associated with genetic mutations of surfactant protein C.
Thouvenin G; Abou Taam R; Flamein F; Guillot L; Le Bourgeois M; Reix P; Fayon M; Counil F; Depontbriand U; Feldmann D; Pointe HD; de Blic J; Clement A; Epaud R
Arch Dis Child; 2010 Jun; 95(6):449-54. PubMed ID: 20403820
[TBL] [Abstract][Full Text] [Related]
8. 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]
9. 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]
10. Respiratory Distress, Congenital Hypothyroidism and Hypotonia in a Newborn.
Jovien S; Borie R; Doummar D; Clement A; Nathan N
Respiration; 2016; 92(3):188-91. PubMed ID: 27595265
[No Abstract] [Full Text] [Related]
11. 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. PubMed ID: 20020530
[TBL] [Abstract][Full Text] [Related]
12. 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]
13. 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]
14. 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]
15. 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]
16. Pulmonary pathology.
deMello DE
Semin Neonatol; 2004 Aug; 9(4):311-29. PubMed ID: 15251148
[TBL] [Abstract][Full Text] [Related]
17. Inherited disorders of neonatal lung diseases.
Yurdakök M
Turk J Pediatr; 2004; 46(2):105-14. PubMed ID: 15214737
[TBL] [Abstract][Full Text] [Related]
18. [Pulmonary surfactant protein adenosine triphosphate-binding-cassette-A3 gene composite mutations in infant congenital interstitial lung disease: report of a case and review of literature].
Xie N; Chen DH; Lin YN; Wu SZ; Gu YY; Zeng QS; Zhai YY; Yang LY; Xu JX
Zhonghua Er Ke Za Zhi; 2016 Oct; 54(10):761-766. PubMed ID: 27784479
[TBL] [Abstract][Full Text] [Related]
19. Analysis of 40 sporadic or familial neonatal and pediatric cases with severe unexplained respiratory distress: relationship to SFTPB.
Tredano M; Griese M; de Blic J; Lorant T; Houdayer C; Schumacher S; Cartault F; Capron F; Boccon-Gibod L; Lacaze-Masmonteil T; Renolleau S; Delaisi B; Elion J; Couderc R; Bahuau M
Am J Med Genet A; 2003 Jun; 119A(3):324-39. PubMed ID: 12784301
[TBL] [Abstract][Full Text] [Related]
20. Surfactant proteins in pediatric interstitial lung disease.
Griese M; Lorenz E; Hengst M; Schams A; Wesselak T; Rauch D; Wittmann T; Kirchberger V; Escribano A; Schaible T; Baden W; Schulze J; Krude H; Aslanidis C; Schwerk N; Kappler M; Hartl D; Lohse P; Zarbock R
Pediatr Res; 2016 Jan; 79(1-1):34-41. PubMed ID: 26375475
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
