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Items: 1 to 20 of 165

1.

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. Epub 2013 Apr 26.

PMID:
23625987
2.

Evaluation and management of inherited disorders of surfactant metabolism.

Hamvas A.

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

PMID:
21034611
3.

Genetic disorders of surfactant proteins.

Hamvas A, Cole FS, Nogee LM.

Neonatology. 2007;91(4):311-7. Epub 2007 Jun 7. Review.

PMID:
17575475
4.

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.

5.

Genetic mechanisms of surfactant deficiency.

Nogee LM.

Biol Neonate. 2004;85(4):314-8. Epub 2004 Jun 8. Review.

PMID:
15218289
6.

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
8.

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. Epub 2015 Nov 7.

PMID:
26547207
9.

Surfactant dysfunction mutations in children's interstitial lung disease and beyond.

Deterding R, Fan LL.

Am J Respir Crit Care Med. 2005 Oct 15;172(8):940-1. Review. No abstract available.

PMID:
16216835
10.

Genetic disorders of surfactant homeostasis.

Whitsett JA.

Paediatr Respir Rev. 2006;7 Suppl 1:S240-2. Epub 2006 Jun 5. Review.

PMID:
16798578
11.

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. Epub 2007 Jul 27.

12.

Inherited disorders of neonatal lung diseases.

Yurdakök M.

Turk J Pediatr. 2004 Apr-Jun;46(2):105-14. Review.

PMID:
15214737
13.
14.

New surfactant protein C gene mutations associated with diffuse lung disease.

Guillot L, Epaud R, Thouvenin G, Jonard L, Mohsni A, Couderc R, Counil F, de Blic J, Taam RA, Le Bourgeois M, Reix P, Flamein F, Clement A, Feldmann D.

J Med Genet. 2009 Jul;46(7):490-4. doi: 10.1136/jmg.2009.066829. Epub 2009 May 13. Erratum in: J Med Genet. 2010 Jul;47(7):485.

15.

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. Epub 2009 Aug 3.

16.

[Lung diseases associated with inherited disorders of surfactant metabolism].

Epaud R, Feldmann D, Guillot L, Clément A.

Arch Pediatr. 2008 Oct;15(10):1560-7. doi: 10.1016/j.arcped.2008.07.016. Epub 2008 Sep 19. French.

PMID:
18804975
17.

Genetic disorders of surfactant homeostasis.

Whitsett JA, Wert SE, Xu Y.

Biol Neonate. 2005;87(4):283-7. Epub 2005 Jun 1. Review.

PMID:
15985750
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. Epub 2007 Nov 16.

PMID:
18024538
19.

[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.

20.

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. Epub 2014 Aug 8.

PMID:
25105258

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