Search Results - "Tredano, M"

Interstitial lung disease in a baby with a de novo mutation in the SFTPC gene by Brasch, F, Griese, M, Tredano, M, Johnen, G, Ochs, M, Rieger, C, Mulugeta, S, Muller, K.M, Bahuau, M, Beers, M.F

“…Mutations in the surfactant protein C gene (SFTPC) were recently reported in patients with interstitial lung disease. In a 13-month-old infant with severe…”
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Anti-GM-CSF antibodies in paediatric pulmonary alveolar proteinosis by Latzin, P, Tredano, M, Wüst, Y, de Blic, J, Nicolai, T, Bewig, B, Stanzel, F, Köhler, D, Bahuau, M, Griese, M

“…Background: Auto-antibodies against granulocyte-macrophage colony stimulating factor (GM-CSF) may be central to the pathogenesis of adult sporadic pulmonary…”
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FOXC2 truncating mutation in distichiasis, lymphedema, and cleft palate by Bahuau, M, Houdayer, C, Tredano, M, Soupre, V, Couderc, R, Vazquez, M-P

“…Bahuau M, Houdayer C, Tredano M, Soupre V, Couderc R, Vazquez M‐P. FOXC2 truncating mutation in distichiasis, lymphedema, and cleft palate. 
Clin Genet 2002:…”
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Interstitial pneumonia and pulmonary alveolar proteinosis in a full-term baby with a de novo heterozygote SFTPC mutation by Brasch, F., Griese, M., Tredano, M., Johnen, G., Ochs, M., Nicolai, T., Rieger, C., Hawgood, S., Mulugeta, S., Müller, K.M., Bahuau, M., Beers, M.F.

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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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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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Déficit constitutionnel en protéine B du surfactant pulmonaire: présentation clinique, diagnostic histologique et moléculaire by Tredano, M., Cneude, F., Denamur, E., Truffert, P., Capron, F., Manouvrier, S., Feldmann, D., Couderc, R., Elion, J., Lacaze-Masmonteil, T.

“…Nous rapportons le cas d'un déficit constitutionnel en protéine B du surfactant pulmonaire (SP-B) caractérisé à l'échelle moléculaire, et nous démontrons la…”
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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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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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Linkage analysis of 5 novel van der Woude syndrome kindreds to 1q32-q41 markers further supports locus homogeneity of the disease trait by Houdayer, C, Soupre, V, Rosenberg-Bourgin, M, Martinez, H, Tredano, M, Feldmann, D, Feingold, J, Aymard, P, Munnich, A, Le Bouc, Y, Vazquez, M P, Bahuau, M

“…van der Woude syndrome (vWS, MIM 119300) is a rare autosomal dominant clefting condition with cardinal features of mucous cysts (lower-lip pits) and clefts to…”
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Pulmonale Alveolarproteinosen by Griese, M., Tredano, M., Bahuau, M.

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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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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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Compound SFTPB 1549C arrow right GAA (121ins2) and 457delC Heterozygosity in Severe Congenital Lung Disease and Surfactant Protein B (SP-B) Deficiency by Tredano, M, Van Elburg, RM, Kaspers, A G, Zimmermann, L J, Houdayer, C, Aymard, P, Hull, WM, Whitsett, JA, Elion, J, Griese, M, Bahuau, M

“…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: SP-B deficiency and alveolar proteinosis by Tredano, M, Blic, J D, Griese, M, Fournet, J C, Elion, J, Bahuau, M

“…Pulmonary surfactant is a multimolecular complex located at the air-water interface within the alveolus and to which a bulk of functions has been assigned,…”
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Identification of a Novel Ca2+-Stimulated S6-Kinase in Rat Liver by Harlin, Jean-Christophe, Tredano, Mohamed, Rider, Mark H., Bollen, Mathieu, Chédeville, Arlette, Lavoinne, Alain

“…Extracellular calcium addition transiently stimulated two S6 peptide kinase activities in isolated rat hepatocytes. Mono Q chromatography revealed that the…”
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Pulmonale Alveolarproteinosen: Molekulare Grundlagen und Konsequenzen für Diagnostik und Therapie by GRIESE, M, TREDANO, M, BAHUAU, M

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Constitutional deficiency of pulmonary surfactant protein B: clinical presentation, histologic and molecular diagnosis by Tredano, M, Cneude, F, Denamur, E, Truffert, P, Capron, F, Manouvrier, S, Feldmann, D, Couderc, R, Elion, J, Lacaze-Masmonteil, T

“…We report a female full-term infant with fatal respiratory failure of early onset due to inherited SP-B deficiency. Lung biopsy was performed at 18 days after…”
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