Silja Schumacher

Summary

Country: France

Publications

  1. ncbi Clinical biological and genetic heterogeneity of the inborn errors of pulmonary surfactant metabolism
    M Tredano
    Service de Biochimie et Biologie Moléculaire, H pital d Enfants Armand Trousseau, Paris, France
    Clin Chem Lab Med 39:90-108. 2001
  2. pmc Expression profiles of hydrophobic surfactant proteins in children with diffuse chronic lung disease
    Matthias Griese
    Kinderklinik and Poliklinik, Dr von Haunersches Kinderspital, Ludwig Maximilians University, Munich, Germany
    Respir Res 6:80. 2005
  3. ncbi FOXC2 truncating mutation in distichiasis, lymphedema, and cleft palate
    M Bahuau
    Service de Biochimie et Biologie Moléculaire, Hopital d Enfants Armand Trousseau, AP HP Paris, France
    Clin Genet 62:470-3. 2002
  4. ncbi Analysis of 40 sporadic or familial neonatal and pediatric cases with severe unexplained respiratory distress: relationship to SFTPB
    Mohammed Tredano
    Service de Biochimie et Biologie Moléculaire, hôpital d enfants Armand Trousseau AP HP, Paris, France
    Am J Med Genet A 119:324-39. 2003
  5. ncbi Mutation of SFTPC in infantile pulmonary alveolar proteinosis with or without fibrosing lung disease
    Mohammed Tredano
    Service de Biochimie et Biologie Moléculaire, hôpital d enfants Armand Trousseau AP HP, Paris, France
    Am J Med Genet A 126:18-26. 2004

Collaborators

Detail Information

Publications5

  1. ncbi Clinical biological and genetic heterogeneity of the inborn errors of pulmonary surfactant metabolism
    M Tredano
    Service de Biochimie et Biologie Moléculaire, H pital d Enfants Armand Trousseau, Paris, France
    Clin Chem Lab Med 39:90-108. 2001
    ..The disentanglement of this disease cluster is however essential to propose specific therapeutic procedures: repeated broncho-alveolar lavages, GM-CSF replacement, bone marrow grafting or lung transplantation...
  2. pmc Expression profiles of hydrophobic surfactant proteins in children with diffuse chronic lung disease
    Matthias Griese
    Kinderklinik and Poliklinik, Dr von Haunersches Kinderspital, Ludwig Maximilians University, Munich, Germany
    Respir Res 6:80. 2005
    ..The profile of these proteins in the alveolar space is unknown in such subjects...
  3. ncbi FOXC2 truncating mutation in distichiasis, lymphedema, and cleft palate
    M Bahuau
    Service de Biochimie et Biologie Moléculaire, Hopital d Enfants Armand Trousseau, AP HP Paris, France
    Clin Genet 62:470-3. 2002
    ..Whether such heterogeneity is related to genotype-phenotype correlation, a hypothesis not primarily supported by the apparent loss-of-function mechanism of the mutations, or governed by modifying genes, remains to be determined...
  4. ncbi Analysis of 40 sporadic or familial neonatal and pediatric cases with severe unexplained respiratory distress: relationship to SFTPB
    Mohammed Tredano
    Service de Biochimie et Biologie Moléculaire, hôpital d enfants Armand Trousseau AP HP, Paris, France
    Am J Med Genet A 119:324-39. 2003
    ..When disease loci are identified, patient genotyping will be crucial as a diagnostic aid, for devising proper treatment, and as a basis for genetic counseling...
  5. ncbi Mutation of SFTPC in infantile pulmonary alveolar proteinosis with or without fibrosing lung disease
    Mohammed Tredano
    Service de Biochimie et Biologie Moléculaire, hôpital d enfants Armand Trousseau AP HP, Paris, France
    Am J Med Genet A 126:18-26. 2004
    ..This article contains supplementary material, which may be viewed at the American Journal of Medical Genetics website at http://www.interscience.wiley.com/jpages/0148-7299/suppmat/index.html...