Agency
National Institute of Health (NIH)
Institute
National Heart, Lung, and Blood Institute (NHLBI)
Type
First Independent Research Support & Transition (FIRST) Awards (R29)
Project #
5R29HL054703-02
Application #
2233127
Study Section
Human Embryology and Development Subcommittee 1 (HED)
Project Start
1995-09-01
Project End
2000-08-31
Budget Start
1996-09-01
Budget End
1997-08-31
Support Year
2
Fiscal Year
1996
Total Cost
Indirect Cost
Name
Johns Hopkins University
Department
Pediatrics
Type
Schools of Medicine
DUNS #
045911138
City
Baltimore
State
MD
Country
United States
Zip Code
21218
Nevel, Rebekah J; Garnett, Errine T; Worrell, John A et al. (2016) Persistent Lung Disease in Adults with NKX2.1 Mutation and Familial Neuroendocrine Cell Hyperplasia of Infancy. Ann Am Thorac Soc 13:1299-304
Thavagnanam, Surendran; Cutz, Ernest; Manson, David et al. (2013) Variable clinical outcome of ABCA3 deficiency in two siblings. Pediatr Pulmonol 48:1035-8
Hamvas, Aaron; Deterding, Robin R; Wert, Susan E et al. (2013) Heterogeneous pulmonary phenotypes associated with mutations in the thyroid transcription factor gene NKX2-1. Chest 144:794-804
Henderson, Lindsay B; Melton, Kristin; Wert, Susan et al. (2013) Large ABCA3 and SFTPC deletions resulting in lung disease. Ann Am Thorac Soc 10:602-7
Young, Lisa R; Deutsch, Gail H; Bokulic, Ronald E et al. (2013) A mutation in TTF1/NKX2.1 is associated with familial neuroendocrine cell hyperplasia of infancy. Chest 144:1199-1206
Flamein, Florence; Riffault, Laure; Muselet-Charlier, CĂ©line et al. (2012) Molecular and cellular characteristics of ABCA3 mutations associated with diffuse parenchymal lung diseases in children. Hum Mol Genet 21:765-75
Agrawal, Amit; Hamvas, Aaron; Cole, F Sessions et al. (2012) An intronic ABCA3 mutation that is responsible for respiratory disease. Pediatr Res 71:633-7
Gower, W Adam; Nogee, Lawrence M (2011) Surfactant dysfunction. Paediatr Respir Rev 12:223-9
Popler, J; Gower, W A; Mogayzel Jr, P J et al. (2010) Familial neuroendocrine cell hyperplasia of infancy. Pediatr Pulmonol 45:749-55
Gower, W Adam; Wert, Susan E; Ginsberg, Jennifer S et al. (2010) Fatal familial lung disease caused by ABCA3 deficiency without identified ABCA3 mutations. J Pediatr 157:62-8

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