Format
Sort by
Items per page

Send to

Choose Destination

Search results

Items: 15

1.

Origin of the prevalent SFTPB indel g.1549C > GAA (121ins2) mutation causing surfactant protein B (SP-B) deficiency.

Tredano M, Cooper DN, Stuhrmann M, Christodoulou J, Chuzhanova NA, Roudot-Thoraval F, Boëlle PY, Elion J, Jeanpierre M, Feingold J, Couderc R, Bahuau M.

Am J Med Genet A. 2006 Jan 1;140(1):62-9.

PMID:
16333843
2.

Expression profiles of hydrophobic surfactant proteins in children with diffuse chronic lung disease.

Griese M, Schumacher S, Tredano M, Steinecker M, Braun A, Guttentag S, Beers MF, Bahuau M.

Respir Res. 2005 Jul 22;6:80.

3.

Anti-GM-CSF antibodies in paediatric pulmonary alveolar proteinosis.

Latzin P, Tredano M, Wüst Y, de Blic J, Nicolai T, Bewig B, Stanzel F, Köhler D, Bahuau M, Griese M.

Thorax. 2005 Jan;60(1):39-44.

4.

Interstitial lung disease in a baby with a de novo mutation in the SFTPC gene.

Brasch F, Griese M, Tredano M, Johnen G, Ochs M, Rieger C, Mulugeta S, Müller KM, Bahuau M, Beers MF.

Eur Respir J. 2004 Jul;24(1):30-9. Review.

5.

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
6.

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
7.

FOXC2 truncating mutation in distichiasis, lymphedema, and cleft palate.

Bahuau M, Houdayer C, Tredano M, Soupre V, Couderc R, Vazquez MP.

Clin Genet. 2002 Dec;62(6):470-3.

PMID:
12485195
8.

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
9.

[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.

10.

[Constitutional deficiency of pulmonary surfactant protein B: clinical presentation, histologic and molecular diagnosis].

Tredano M, Cneude F, Denamur E, Truffert P, Capron F, Manouvrier S, Feldmann D, Couderc R, Elion J, Lacaze-Masmonteil T.

Arch Pediatr. 2000 Jun;7(6):641-4. French.

PMID:
10911532
11.

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
12.

Linkage analysis of 5 novel van der Woude syndrome kindreds to 1q32-q41 markers further supports locus homogeneity of the disease trait.

Houdayer C, Soupre V, Rosenberg-Bourgin M, Martinez H, Tredano M, Feldmann D, Feingold J, Aymard P, Munnich A, Le Bouc Y, Vazquez MP, Bahuau M.

Ann Genet. 1999;42(2):69-74.

PMID:
10434119
13.

Improved fluorescent PCR-based assay for sizing CGG repeats at the FRAXA locus.

Houdayer C, Lemonnier A, Gerard M, Chauve C, Tredano M, de Villemeur TB, Aymard P, Bonnefont JP, Feldmann D.

Clin Chem Lab Med. 1999 Apr;37(4):397-402.

PMID:
10369109
14.

Clinical evaluation of the CF(12)m cystic fibrosis DNA diagnostic kit.

Houdayer C, Cazeneuve C, Cougoureux E, Magnier C, Tredano M, Aymard P, Goossens M, Feldmann D.

Clin Chem. 1998 Jun;44(6 Pt 1):1346-8. No abstract available.

15.

Identification of a novel Ca2+-stimulated S6-kinase in rat liver.

Harlin JC, Tredano M, Rider MH, Bollen M, Chédeville A, Lavoinne A.

Biochem Biophys Res Commun. 1997 Oct 20;239(2):451-6.

PMID:
9344850

Supplemental Content

Loading ...
Support Center