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Items: 1 to 20 of 568

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.

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. Erratum in: J Med Genet. 2010 Jul;47(7):485.

PMID:
19443464
5.

Inherited disorders of neonatal lung diseases.

Yurdakök M.

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

PMID:
15214737
6.

[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.

7.

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.

PMID:
15557112
8.

[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
10.

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
11.
12.

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
13.
14.

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
15.

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
16.

Aberrant SP-B mRNA in lung tissue of patients with congenital alveolar proteinosis (CAP).

Lin Z, deMello DE, Batanian JR, Khammash HM, DiAngelo S, Luo J, Floros J.

Clin Genet. 2000 May;57(5):359-69. Erratum in: Clin Genet 2000 Aug;58(2):156.

PMID:
10852370
17.
18.

Congenital alveolar proteinosis.

Kattan AK, Bulagannawar PS, Malik IH.

Saudi Med J. 2004 Oct;25(10):1474-7.

PMID:
15494826
19.

Pulmonary alveolar proteinosis: a review.

deMello DE, Lin Z.

Pediatr Pathol Mol Med. 2001 Sep-Oct;20(5):413-32. Review.

PMID:
11552740
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.

PMID:
25105258
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