Zobrazeno 1 - 10
of 57
pro vyhledávání: '"M Tredano"'
Autor:
Y Wüst, Matthias Griese, F Stanzel, Thomas Nicolai, Michel Bahuau, D Köhler, B Bewig, Philipp Latzin, M Tredano, J de Blic
Publikováno v:
Thorax. 60:39-44
Background: Auto-antibodies against granulocyte-macrophage colony stimulating factor (GM-CSF) may be central to the pathogenesis of adult sporadic pulmonary alveolar proteinosis (PAP). The role of anti-GM-CSF auto-antibodies in paediatric forms of PA
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c8badd34e09f73ffdfc858965d4cd4d1
https://doi.org/10.1136/thx.2004.021329
https://doi.org/10.1136/thx.2004.021329
Autor:
M Tredano, Georg Johnen, C. Rieger, Michel Bahuau, MF Beers, Surafel Mulugeta, Matthias Griese, Matthias Ochs, Klaus-Michael Müller, Frank Brasch
Publikováno v:
European Respiratory Journal. 24:30-39
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 respiratory insufficiency, a lung biopsy elicited combined histological patterns of nonspecific
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e3326c5edb3723e247ce447185c5262e
https://doi.org/10.1183/09031936.04.00000104
https://doi.org/10.1183/09031936.04.00000104
Autor:
François Cartault, Jacques Elion, Rémy Couderc, Tifenn Lorant, Matthias Griese, M Tredano, Bertrand Delaisi, Frédérique Capron, Michel Bahuau, Liliane Boccon-Gibod, Claude Houdayer, Silja Schumacher, Jacques de Blic, Thierry Lacaze-Masmonteil, Sylvain Renolleau
Publikováno v:
Scopus-Elsevier
Fe ´deration de Genetique et INSERM U458, Hoˆpital Robert-Debre (AP-HP), Paris, FranceWehaveanalyzedsurfactantproteinB(SP-B)and its encoding gene (SFTPB, MIM 178640)in 40 unrelated pediatric patients with un-explained respiratory distress (URD). Th
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::54a36939b2574dde775632ef08336a4c
https://doi.org/10.1002/ajmg.a.20058
https://doi.org/10.1002/ajmg.a.20058
Publikováno v:
Clinical Genetics. 62:470-473
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: 62: 470–473. © Blackwell Munksgaard, 2002 We report a family showing autosomal-dominant se
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::17da4c5ebf10bc06253ea5a398c7493c
https://doi.org/10.1034/j.1399-0004.2002.620608.x
https://doi.org/10.1034/j.1399-0004.2002.620608.x
Publikováno v:
Monatsschrift Kinderheilkunde. 149:1245-1261
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::e3e36f274ae68d3764a779d845b1b6f4
https://doi.org/10.1007/s001120170055
https://doi.org/10.1007/s001120170055
Autor:
F. Capron, M. Tredano, Patrick Truffert, T. Lacaze-Masmonteil, R. Couderc, Jacques Elion, E. Denamur, F. Cneude, D. Feldmann, S. Manouvrier
Publikováno v:
Archives de Pédiatrie. 7:641-644
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 birth, with histopathological characterization indicating congenital alveolar proteinosis.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::e6955c26163c01006d6bbdf24b664b70
https://doi.org/10.1016/s0929-693x(00)80133-5
https://doi.org/10.1016/s0929-693x(00)80133-5
Autor:
Pierre Aymard, Claude Houdayer, M Tredano, Ruurd M. van Elburg, Jeffrey A. Whitsett, Matthias Griese, Michel Bahuau, Ageeth G. Kaspers, William M. Hull, Jacques Elion, Luc J I Zimmermann
Publikováno v:
Human mutation, 14(6), 502-509. Wiley-Liss Inc.
Several human respiratory disorders have been linked to an abnormality of pulmonary surfactant synthesis or turnover. Among those conditions, hereditary deficiency in the hydrophobic surfactant protein B (SP-B) has been recognized as a rare cause of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::26700933077c3119c6b925b07313123e
https://doi.org/10.1002/(sici)1098-1004(199912)14:6<502::aid-humu9>3.0.co
https://doi.org/10.1002/(sici)1098-1004(199912)14:6<502::aid-humu9>3.0.co
Autor:
Delphine Feldmann, C. Magnier, Claude Houdayer, I Sargis, T. Billette de Villemeur, Gerard M, Jean-Paul Bonnefont, M Tredano
Publikováno v:
Immuno-analyse & Biologie Spécialisée. 14:315-320
resume Le retard mental constitue une indication de routine pour la consultation en neuropediatrie. Son etiologie etant souvent delicate a determiner, il est difficile d'etablir un pronostic et un risque de recurrence. Le syndrome de l'X fragile est
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::37c127cb229ee35ab8ca4ea4e2a8669d
https://doi.org/10.1016/s0923-2532(00)86666-1
https://doi.org/10.1016/s0923-2532(00)86666-1
Publikováno v:
Immuno-analyse & Biologie Spécialisée. 13:251-255
Resume Le diagnostic genetique de la mucoviscidose est effectue en routine dans de nombreux laboratoires, par des techniques robustes mais souvent lourdes, ce qui plaide en faveur du developpement de methodes simples, rapides et fiables. Le kit CF(12
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::782a9ca173644784122778e4d486150b
https://doi.org/10.1016/s0923-2532(98)80012-4
https://doi.org/10.1016/s0923-2532(98)80012-4
Autor:
Pierre Aymard, Delphine Feldmann, Cécile Cazeneuve, Claude Houdayer, Michel Goossens, Emmanuel Cougoureux, M Tredano, Catherine Magnier
Publikováno v:
Clinical Chemistry. 44:1346-1348
Cystic fibrosis (CF) is the most common lethal autosomal recessive disease in the Caucasian population. CF has a carrier frequency of about 1 in 25 and an incidence of 1 in 2000 to 3000 births, depending on the population group (1). Over 650 differen
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::26590162398501c93bcf6d7985aa207c
https://doi.org/10.1093/clinchem/44.6.1346
https://doi.org/10.1093/clinchem/44.6.1346