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Items: 1 to 20 of 153

1.

Hereditary interstitial lung diseases manifesting in early childhood in Japan.

Akimoto T, Cho K, Hayasaka I, Morioka K, Kaneshi Y, Furuta I, Yamada M, Ariga T, Minakami H.

Pediatr Res. 2014 Nov;76(5):453-8. doi: 10.1038/pr.2014.114.

PMID:
25105258
2.

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. doi: 10.1038/pr.2015.173.

PMID:
26375475
3.

Mutation of SFTPC in infantile pulmonary alveolar proteinosis with or without fibrosing lung disease.

Tredano M, Griese M, Brasch F, Schumacher S, de Blic J, Marque S, Houdayer C, Elion J, Couderc R, Bahuau M.

Am J Med Genet A. 2004 Apr 1;126A(1):18-26.

PMID:
15039969
4.

Ultrastructural characterization of genetic diffuse lung diseases in infants and children: a cohort study and review.

Citti A, Peca D, Petrini S, Cutrera R, Biban P, Haass C, Boldrini R, Danhaive O.

Ultrastruct Pathol. 2013 Oct;37(5):356-65. doi: 10.3109/01913123.2013.811454.

PMID:
24047351
6.

Population-based frequency of surfactant dysfunction mutations in a native Chinese cohort.

Chen YJ, Wambach JA, DePass K, Wegner DJ, Chen SK, Zhang QY, Heins H, Cole FS, Hamvas A.

World J Pediatr. 2016 May;12(2):190-5. doi: 10.1007/s12519-015-0047-x.

PMID:
26547207
7.
8.

Ultrastructural and molecular analysis in fatal neonatal interstitial pneumonia caused by a novel ABCA3 mutation.

Bruder E, Hofmeister J, Aslanidis C, Hammer J, Bubendorf L, Schmitz G, Rufle A, Bührer C.

Mod Pathol. 2007 Oct;20(10):1009-18.

9.

Genetic disorders of surfactant dysfunction.

Wert SE, Whitsett JA, Nogee LM.

Pediatr Dev Pathol. 2009 Jul-Aug;12(4):253-74. doi: 10.2350/09-01-0586.1. Review.

10.

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 15;119A(3):324-39.

PMID:
12784301
11.

Inherited surfactant deficiency caused by uniparental disomy of rare mutations in the surfactant protein-B and ATP binding cassette, subfamily a, member 3 genes.

Hamvas A, Nogee LM, Wegner DJ, Depass K, Christodoulou J, Bennetts B, McQuade LR, Gray PH, Deterding RR, Carroll TR, Kammesheidt A, Kasch LM, Kulkarni S, Cole FS.

J Pediatr. 2009 Dec;155(6):854-859.e1. doi: 10.1016/j.jpeds.2009.06.006.

12.

Evaluation and management of inherited disorders of surfactant metabolism.

Hamvas A.

Chin Med J (Engl). 2010 Oct;123(20):2943-7. Review.

13.

[Interstitial lung disease associated with surfactant protein B and C deficiencies].

Szczawińska-Popłonyk A, Breborowicz A, Langfort R.

Pneumonol Alergol Pol. 2010;78(3):224-8. Review. Polish.

14.

Identification of early interstitial lung disease in an individual with genetic variations in ABCA3 and SFTPC.

Crossno PF, Polosukhin VV, Blackwell TS, Johnson JE, Markin C, Moore PE, Worrell JA, Stahlman MT, Phillips JA 3rd, Loyd JE, Cogan JD, Lawson WE.

Chest. 2010 Apr;137(4):969-73. doi: 10.1378/chest.09-0790.

15.

Genetic testing in children with surfactant dysfunction.

Turcu S, Ashton E, Jenkins L, Gupta A, Mok Q.

Arch Dis Child. 2013 Jul;98(7):490-5. doi: 10.1136/archdischild-2012-303166.

PMID:
23625987
16.

Pulmonary pathology.

deMello DE.

Semin Neonatol. 2004 Aug;9(4):311-29. Review.

PMID:
15251148
17.
18.

Clinical, radiological and pathological features of ABCA3 mutations in children.

Doan ML, Guillerman RP, Dishop MK, Nogee LM, Langston C, Mallory GB, Sockrider MM, Fan LL.

Thorax. 2008 Apr;63(4):366-73.

PMID:
18024538
19.

ABCA3 mutations associated with pediatric interstitial lung disease.

Bullard JE, Wert SE, Whitsett JA, Dean M, Nogee LM.

Am J Respir Crit Care Med. 2005 Oct 15;172(8):1026-31.

20.

Ultrastructure of lamellar bodies in congenital surfactant deficiency.

Edwards V, Cutz E, Viero S, Moore AM, Nogee L.

Ultrastruct Pathol. 2005 Nov-Dec;29(6):503-9.

PMID:
16316951
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