Zobrazeno 1 - 10
of 19
pro vyhledávání: '"Albert Iron"'
Autor:
Stéphanie Bui, Thierry Bienvenu, Philippe Reix, Gabriel Bellon, Emanuelle Girodon, E. Deneuville, Isabelle Sermet-Gaudelus, Nathalie Stremmler, Albert Iron, Veronika Skalická, Michel Roussey, F. Huet, Delphine Roussel, Gérard Lenoir, M. Lebourgeois, V. Vavrova, Dorota Sands, Milan Macek, Aleksander Edelman, Jacques Sarles, Anne Munck, Isabelle Fajac
Publikováno v:
American Journal of Respiratory and Critical Care Medicine. 182:929-936
The diagnosis of cystic fibrosis (CF) is based on a characteristic clinical picture in association with a sweat chloride (Cl(-)) concentration greater than 60 mmol/L or the identification of two CF-causing mutations. A challenging problem is the sign
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::74a54144c48440c1a8fc6f8c97e6abeb
https://doi.org/10.1164/rccm.201003-0382oc
https://doi.org/10.1164/rccm.201003-0382oc
Autor:
Véronique Ladeveze, Marie-Claude Pasquet, M.-P. Reboul, Ayman El-Seedy, Frédéric Bilan, Alain Kitzis, Tony Dudognon, Albert Iron
Publikováno v:
The Journal of Molecular Diagnostics. 11:488-493
The DNA sequences of seven regions in the human genome were examined for sequence identity with exon 9 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene, which is mutated in cystic fibrosis, and its intronic boundaries. These seq
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0a96cdbffea7cad7311c75e4d637d3bf
https://doi.org/10.2353/jmoldx.2009.090005
https://doi.org/10.2353/jmoldx.2009.090005
Autor:
Virginie Rondeau, Benoit Arveiler, François Duchêne, Jean-François Dartigues, Luc Letenneur, Daniel Commenges, Albert Iron
Publikováno v:
Eur J Neurol
Eur J Neurol, 2006, 13 (9), pp.1022-5. <10.1111/j.1468-1331.2006.01339.x>
Eur J Neurol, 2006, 13 (9), pp.1022-5. <10.1111/j.1468-1331.2006.01339.x>
Although highly controversial, the hypothesis of a link between aluminum in drinking water and Alzheimer’s disease (AD) has been supported by several epidemiological studies. Transferrin (Tf) is a major transport protein for both iron and aluminum.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4b2fdc73455475f7c98e523102789f86
https://doi.org/10.1111/j.1468-1331.2006.01339.x
https://doi.org/10.1111/j.1468-1331.2006.01339.x
Publikováno v:
Molecular and Cellular Probes. 19:358-362
The CFTR gene mutation 1811+1.6 kbA>G has been reported as associated with a severe phenotype of cystic fibrosis with pancreatic insufficiency. This mutation has been identified as a rather common one in the South West of France and in the Iberian Pe
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7c0cf00a8315c7e833bf6b216d5729f0
https://doi.org/10.1016/j.mcp.2005.06.010
https://doi.org/10.1016/j.mcp.2005.06.010
Autor:
Albert Iron
Publikováno v:
Oléagineux, Corps gras, Lipides, Vol 7, Iss 1, Pp 86-90 (2000)
L’obésité est une pathologie majeure pour plusieurs raisons qu’il est difficile de hiérarchiser. D’abord parce qu’elle est commune, concernant aujourd’hui près d’un individu sur trois dans les pays industrialisés. Ensuite, parce qu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::abd2c3c059828697eb7896b4c0e39f63
https://doi.org/10.1051/ocl.2000.0086
https://doi.org/10.1051/ocl.2000.0086
Autor:
Francoise Chevalier, C. Verlingue, Isabelle Creveaux, Thierry Bienvenu, Jean-Claude Chomel, Eric Bieth, M.-C. Malinge, Michèle Chery, Perrine Malzac, Albert Iron, Mireille Claustres, C. Guittard, Emanuelle Girodon, Christine Clavel, Nicole Monnier, Claude Férec, Jean-Paul Bonnefont, Martine Blayau, Hervé Mittre, Cécile Cazeneuve, Delphine Feldmann, Viviane Dumur, Marie des Georges, Guy Lalau, Dominique Bozon
Publikováno v:
Human Mutation. 16:143-156
We have collated the results of cystic fibrosis (CF) mutation analysis conducted in 19 laboratories in France. We have analyzed 7, 420 CF alleles, demonstrating a total of 310 different mutations including 24 not reported previously, accounting for 9
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::53e03de773478292cc56bbedce0a5f73
https://doi.org/10.1002/1098-1004(200008)16:2<143::aid-humu7>3.0.co
https://doi.org/10.1002/1098-1004(200008)16:2<143::aid-humu7>3.0.co
Autor:
Christel, Thauvin-Robinet, Anne, Munck, Frédéric, Huet, Alix, de Becdelièvre, Clément, Jimenez, Guy, Lalau, Elodie, Gautier, Jacques, Rollet, Jean, Flori, Raphaëlle, Nové-Josserand, Jean-Claude, Soufir, Alain, Haloun, Dominique, Hubert, Elise, Houssin, Gil, Bellis, Gilles, Rault, Albert, David, Laurent, Janny, Raphaël, Chiron, Nathalie, Rives, Dominique, Hairion, Patrick, Collignon, Antoine, Valeri, Gilles, Karsenty, Annick, Rossi, Marie-Pierre, Audrézet, Claude, Férec, Julie, Leclerc, Marie des, Georges, Mireille, Claustres, Thierry, Bienvenu, Bénédicte, Gérard, Pierre, Boisseau, Faïza, Cabet-Bey, David, Cheillan, Delphine, Feldmann, Christine, Clavel, Eric, Bieth, Albert, Iron, Brigitte, Simon-Bouy, Vincent, Izard, Julie, Steffann, Stéphane, Viville, Catherine, Costa, Véronique, Drouineaud, Patricia, Fauque, Christine, Binquet, Claire, Bonithon-Kopp, Mike A, Morris, Laurence, Faivre, Michel, Goossens, Michel, Roussey, Emmanuelle, Girodon, L, Weiss
Publikováno v:
Journal of Medical Genetics
Journal of Medical Genetics, BMJ Publishing Group, 2013, 50 (4), pp.220-227. ⟨10.1136/jmedgenet-2012-101427⟩
Journal of Medical Genetics, 2013, 50 (4), pp.220-227. ⟨10.1136/jmedgenet-2012-101427⟩
Journal of Medical Genetics, BMJ Publishing Group, 2013, 50 (4), pp.220-227. ⟨10.1136/jmedgenet-2012-101427⟩
Journal of Medical Genetics, 2013, 50 (4), pp.220-227. ⟨10.1136/jmedgenet-2012-101427⟩
International audience; BACKGROUND:The high frequency of the cystic fibrosis (CF) transmembrane conductance regulator (CFTR) gene mutation p.Arg117His in patients with congenital bilateral absence of the vas deferens (CBAVD) and in newborns screened
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::74af8dc7426831fe5513473ce9708dcb
https://hal.umontpellier.fr/hal-02446166
https://hal.umontpellier.fr/hal-02446166
Autor:
Emmanuelle Girodon, Julie Leclerc, Faïza Cabet-Bey, Thierry Bienvenu, Albert Iron, Marie des Georges, Martine Blayau, Guy Lalau, Hervé Mittre, Delphine Feldmann, Mireille Claustres, Catherine Costa, Céline René, Damien Paulet, C. Guittard
Publikováno v:
European Journal of Human Genetics
European Journal of Human Genetics, 2010, ⟨10.1038/ejhg.2010.137⟩
European Journal of Human Genetics, Nature Publishing Group, 2010, ⟨10.1038/ejhg.2010.137⟩
European Journal of Human Genetics, 2010, ⟨10.1038/ejhg.2010.137⟩
European Journal of Human Genetics, Nature Publishing Group, 2010, ⟨10.1038/ejhg.2010.137⟩
International audience; Among the 1700 mutations reported in the cystic fibrosis transmembrane conductance regulator (CFTR) gene, a missense mutation, p.Ser1235Arg, initially reported in a CF patient with a second mutation (p.Gly628Arg) on the same a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4ee50a2536d47d81464f64c06a6d7bf0
https://hal.science/hal-00567037/document
https://hal.science/hal-00567037/document
Autor:
Emmanuelle Girodon, E. Deneuville, Anne Munck, Michel Renouil, Marcel Guillot, Frédéric Huet, Isabelle Fajac, Marie des Georges, Albert Iron, Christel Thauvin-Robinet, Michel Roussey, Isabelle Sermet-Gaudelus, Delphine Roussel, Rola Abou-Taam, Stéphanie Bui, Gérard Lenoir, Aleksander Edelman
Publikováno v:
Thorax
Thorax, BMJ Publishing Group, 2010, 65 (6), pp.539-544. ⟨10.1136/thx.2009.123422⟩
Thorax, BMJ Publishing Group, 2010, 65 (6), pp.539-544. ⟨10.1136/thx.2009.123422⟩
International audience; BACKGROUND:A challenging problem arising from cystic fibrosis (CF) newborn screening is the significant number of infants with hypertrypsinaemia (HIRT) with sweat chloride levels in the intermediate range and only one or no id
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e25a8a05c19e8d851ba309de3579b56a
https://hal.umontpellier.fr/hal-02446256
https://hal.umontpellier.fr/hal-02446256
Autor:
Jérôme Harambat, Annick Andrieux, Stéphanie Bui, Albert Iron, Michael Fayon, Fabienne Nacka, Brigitte Llanas
Publikováno v:
Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society. 9(4)
Background Due to the improvement in life expectancy in cystic fibrosis (CF), co-morbidities such as renal function impairment may be more frequent. Aim To determine the prevalence of renal disease in children with CF and to identify associated risk
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9891179c2faf989a4362a9dbf12d1ca9
https://pubmed.ncbi.nlm.nih.gov/22082944
https://pubmed.ncbi.nlm.nih.gov/22082944