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Results: 1 to 20 of 590

Similar articles for PubMed (Select 15039969)

1.

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
2.

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
3.

[Clinical, biological and genetic heterogeneity of the inborn errors of pulmonary surfactant metabolism: SP-B deficiency and alveolar proteinosis].

Tredano M, Blic JD, Griese M, Fournet JC, Elion J, Bahuau M.

Ann Biol Clin (Paris). 2001 Mar-Apr;59(2):131-48. Review. French.

PMID:
11282516
4.

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.

PMID:
19443464
5.

Aberrant processing forms of lung surfactant proteins SP-B and SP-C revealed by high-resolution mass spectrometry.

Galetskiy D, Woischnik M, Ripper J, Griese M, Przybylski M.

Eur J Mass Spectrom (Chichester, Eng). 2008;14(6):379-90. doi: 10.1255/ejms.957.

PMID:
19136726
6.

Inherited disorders of neonatal lung diseases.

Yurdakök M.

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

7.

[Neonatal respiratory failure associated with mutation in the surfactant protein C gene].

Alzina de Aguilar V, Gaboli M, Bastero Miñon P, Romero Montero A, de Alava E.

An Pediatr (Barc). 2005 Mar;62(3):210-4. Spanish.

8.

Nonspecific interstitial pneumonia, alveolar proteinosis, and abnormal proprotein trafficking resulting from a spontaneous mutation in the surfactant protein C gene.

Stevens PA, Pettenazzo A, Brasch F, Mulugeta S, Baritussio A, Ochs M, Morrison L, Russo SJ, Beers MF.

Pediatr Res. 2005 Jan;57(1):89-98. Epub 2004 Nov 19.

PMID:
15557112
9.

Clinical biological and genetic heterogeneity of the inborn errors of pulmonary surfactant metabolism.

Tredano M, De Blic J, Griese M, Fournet JC, Elion J, Bahuau M.

Clin Chem Lab Med. 2001 Feb;39(2):90-108. Review.

PMID:
11341756
10.

[Genetic basis in chronic interstitial familial pneumopathy. Familial study of SFTPC].

Somaschini M, Cavazza A, Riva S, Sassi I, Carrera P.

Pediatr Med Chir. 2005 May-Aug;27(3-4):103-7. Italian.

PMID:
16910460
12.

Compound SFTPB 1549C-->GAA (121ins2) and 457delC heterozygosity in severe congenital lung disease and surfactant protein B (SP-B) deficiency.

Tredano M, van Elburg RM, Kaspers AG, Zimmermann LJ, Houdayer C, Aymard P, Hull WM, Whitsett JA, Elion J, Griese M, Bahuau M.

Hum Mutat. 1999;14(6):502-9.

PMID:
10571948
13.

Genetic mutations in surfactant protein C are a rare cause of sporadic cases of IPF.

Lawson WE, Grant SW, Ambrosini V, Womble KE, Dawson EP, Lane KB, Markin C, Renzoni E, Lympany P, Thomas AQ, Roldan J, Scott TA, Blackwell TS, Phillips JA 3rd, Loyd JE, du Bois RM.

Thorax. 2004 Nov;59(11):977-80.

14.

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. doi: 10.1002/humu.21183.

PMID:
20020530
15.

Expression of a human surfactant protein C mutation associated with interstitial lung disease disrupts lung development in transgenic mice.

Bridges JP, Wert SE, Nogee LM, Weaver TE.

J Biol Chem. 2003 Dec 26;278(52):52739-46. Epub 2003 Oct 2.

16.

Surfactant protein deficiency in familial interstitial lung disease.

Amin RS, Wert SE, Baughman RP, Tomashefski JF Jr, Nogee LM, Brody AS, Hull WM, Whitsett JA.

J Pediatr. 2001 Jul;139(1):85-92.

PMID:
11445799
17.
18.

[Pulmonary surfactant protein gene mutation associated with pediatric interstitial lung disease: a case study and the review of related literature].

Zhu CM, Cao L, Huang RY, Wang YJ, Zou JZ, Yuan XY, Song F, Chen HZ.

Zhonghua Er Ke Za Zhi. 2013 Feb;51(2):84-9. Review. Chinese.

PMID:
23527967
19.

Molecular and phenotypic variability in the congenital alveolar proteinosis syndrome associated with inherited surfactant protein B deficiency.

deMello DE, Nogee LM, Heyman S, Krous HF, Hussain M, Merritt TA, Hsueh W, Haas JE, Heidelberger K, Schumacher R, et al.

J Pediatr. 1994 Jul;125(1):43-50.

PMID:
8021783
20.

A common mutation in the surfactant protein C gene associated with lung disease.

Cameron HS, Somaschini M, Carrera P, Hamvas A, Whitsett JA, Wert SE, Deutsch G, Nogee LM.

J Pediatr. 2005 Mar;146(3):370-5.

PMID:
15756222
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