Search Results - "Tredano, Mohammed"

Expression profiles of hydrophobic surfactant proteins in children with diffuse chronic lung disease by Griese, Matthias, Schumacher, Silja, Tredano, Mohammed, Steinecker, Manuela, Braun, Annika, Guttentag, Susan, Beers, Michael F, Bahuau, Michel

“…Abnormalities of the intracellular metabolism of the hydrophobic surfactant proteins SP-B and SP-C and their precursors may be causally linked to chronic…”
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Mutation of SFTPC in infantile pulmonary alveolar proteinosis with or without fibrosing lung disease by Tredano, Mohammed, Griese, Matthias, Brasch, Frank, Schumacher, Silja, Blic, Jacques de, Marque, Stéphanie, Houdayer, Claude, Elion, Jacques, Couderc, Rémy, Bahuau, Michel

“…Pulmonary surfactant protein C (SP‐C) is a highly hydrophobic peptide produced by type‐II alveolar cells through the processing of a high‐molecular weight…”
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Analysis of 40 sporadic or familial neonatal and pediatric cases with severe unexplained respiratory distress: Relationship to SFTPB by Tredano, Mohammed, Griese, Matthias, de Blic, Jacques, Lorant, Tifenn, Houdayer, Claude, Schumacher, Silja, Cartault, François, Capron, Frédérique, Boccon-Gibod, Liliane, Lacaze-Masmonteil, Thierry, Renolleau, Sylvain, Delaisi, Bertrand, Elion, Jacques, Couderc, Rémy, Bahuau, Michel

“…We have analyzed surfactant protein B (SP‐B) and its encoding gene (SFTPB, MIM 178640) in 40 unrelated pediatric patients with unexplained respiratory distress…”
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Origin of the prevalent SFTPB indel g.1549C > GAA (121ins2) mutation causing surfactant protein B (SP-B) deficiency by Tredano, Mohammed, Cooper, David N., Stuhrmann, Manfred, Christodoulou, John, Chuzhanova, Nadia A., Roudot-Thoraval, Françoise, Boëlle, Pierre-Yves, Elion, Jacques, Jeanpierre, Marc, Feingold, Josué, Couderc, Rémy, Bahuau, Michel

“…The SFTPB gene indel g.1549C > GAA (121ins2) accounts for about 2/3 of the mutant alleles underlying complete surfactant protein B deficiency. It is unclear,…”
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Compound SFTPB 1549C→GAA (121ins2) and 457delC heterozygosity in severe congenital lung disease and surfactant protein B (SP-B) deficiency by Tredano, Mohammed, van Elburg, Ruurd M., Kaspers, Ageeth G., Zimmermann, Luc J., Houdayer, Claude, Aymard, Pierre, Hull, William M., Whitsett, Jeffrey A., Elion, Jacques, Griese, Matthias, Bahuau, Michel

“…Several human respiratory disorders have been linked to an abnormality of pulmonary surfactant synthesis or turnover. Among those conditions, hereditary…”
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Clinical biological and genetic heterogeneity of the inborn errors of pulmonary surfactant metabolism by Tredano, M, De Blic, J, Griese, M, Fournet, J C, Elion, J, Bahuau, M

“…Pulmonary surfactant is a multimolecular complex located at the air-water interface within the alveolus to which a range of physical (surface-active…”
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CompoundSFTPB 1549C?GAA (121ins2) and 457delC heterozygosity in severe congenital lung disease and surfactant protein B (SP-B) deficiency by Tredano, Mohammed, van Elburg, Ruurd M., Kaspers, Ageeth G., Zimmermann, Luc J., Houdayer, Claude, Aymard, Pierre, Hull, William M., Whitsett, Jeffrey A., Elion, Jacques, Griese, Matthias, Bahuau, Michel

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Improved fluorescent PCR-based assay for sizing CGG repeats at the FRAXA locus by Houdayer, C, Lemonnier, A, Gerard, M, Chauve, C, Tredano, M, de Villemeur, T B, Aymard, P, Bonnefont, J P, Feldmann, D

“…Fragile X syndrome is the most frequent heritable genetic disease involving mental retardation and is usually caused by an expanded CGG repeat in the first…”
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Clinical evaluation of the CF(12)m cystic fibrosis DNA diagnostic kit by HOUDAYER, C, CAZENEUVE, C, COUGOUREUX, E, MAGNIER, C, TREDANO, M, AYMARD, P, GOOSSENS, M, FELDMANN, D

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