Zobrazeno 1 - 10
of 68
pro vyhledávání: '"J.L. Serre"'
Autor:
Idriss Djilali-Saiah, Françoise Clerget-Darpoux, Sophie Caillat-Zucman, S. Percopo, M. C. Fulchignoni-Lataud, F. Clot, F. Bouguerra, J.L. Serre, C. Renoux, Luigi Greco, Marie-Claude Babron
Publikováno v:
Tissue Antigens. 54:527-530
Coeliac disease (CD) is a multifactorial disease for which there is an intensive search for genetic risk factors. Some authors found an association between the CTLA-4 region and CD. In the present work, we investigate the possible implication of the
Publikováno v:
European Journal of Human Genetics. 5:89-93
Autor:
B. Simon-Bouy, Claire Carrion, Etienne Mornet, Mark E Nunes, Isabelle Brun-Heath, Anne-Sophie Lia-Baldini, J.L. Serre
Publikováno v:
Human Genetics
Human Genetics, Springer Verlag, 2008, 123 (4), pp.429-32. ⟨10.1007/s00439-008-0480-1⟩
Human Genetics, Springer Verlag, 2008, 123 (4), pp.429-32. ⟨10.1007/s00439-008-0480-1⟩
International audience; The dominant negative effect of mutations is rare in metabolic diseases and its mechanism has not been studied much. Hypophosphatasia, a bone inherited metabolic disorder, is a good model because the disease can be dominantly
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1bb3f7ddd54d3ddd55978ba19a0d4268
https://hal-unilim.archives-ouvertes.fr/hal-00651340
https://hal-unilim.archives-ouvertes.fr/hal-00651340
Autor:
Elodie Chabrol, J.L. Serre, Etienne Mornet, Isabelle Brun-Heath, C Petit, K Drexler, P. De Mazancourt, Agnès Taillandier, Michelle Fox
Publikováno v:
Clinical genetics. 73(3)
Hypophosphatasia is a rare inherited bone disease caused by mutations in the alkaline phosphatase liver-type gene (ALPL) gene, with extensive allelic heterogeneity leading to a range of clinical phenotypes. We report here a patient who died from seve
Autor:
Agnès Taillandier, Etienne Mornet, Isabelle Brun-Heath, P. De Mazancourt, Satu-Leena Sallinen, J.L. Serre
Publikováno v:
The Journal of clinical endocrinology and metabolism. 90(4)
Hypophosphatasia is an inherited disorder due to mutations in the bone alkaline phosphatase (ALPL) gene. We report here a patient with childhood hypophosphatasia diagnosed at 1.4 yr because of pectus excavatum, large anterior fontanel, rachitic skele
Autor:
B. Robin, Eric Bieth, Peter Freisinger, M. Mouchard, H. P. Krohn, Mark E Nunes, J. F. Gibrat, Anne-Sophie Lia-Baldini, Arthur S. Aylsworth, F. Muller, Etienne Mornet, B. Simon-Bouy, J.L. Serre, S. Delanote, J. C.C. Hu, Agnès Taillandier
Publikováno v:
Human genetics. 109(1)
Hypophosphatasia is an inherited disorder characterized by defective bone mineralization and a deficiency of tissue-nonspecific alkaline phosphatase (TNSALP) activity. The disease is highly variable in its clinical expression, because of various muta
Autor:
Patricia Momigliano-Richiardi, S. De Virgiliis, Giorgio Casari, F. Clot, Marie-Claude Babron, J.L. Serre, V. Mantovani, Luigi Greco, A. Lemainque, A. D'alfonso, S. Percopo, Gino Roberto Corazza, Paolo Gasparini, Hana Selinger-Leneman, M. C. Fulchignoni-Lataud, Giuseppe Iacono, Roberto Tosi, Patrizia Zavattari, Françoise Clerget-Darpoux, R. Sica
Publikováno v:
Scopus-Elsevier
Coeliac disease (CD) is a malabsorptive disorder of the small intestine resulting from ingestion of gluten. The HLA risk factors involved in CD are well known but do not explain the whole genetic susceptibility. Several regions of potential linkage o
Autor:
E. Bonnin, Peter Freisinger, Agnès Taillandier, F. Muller, D. Josifova, Etienne Mornet, B. Simon-Bouy, Marie-Pierre Cordier, J.L. Serre, Florence Fellmann, S. De Bie, M.T. Zabot, E. Cozien, V. Hesse, Raoul C.M. Hennekam, C. Fribourg, L. Kerzin-Storrar, Eric Bieth, Rolf E. Brenner, Y. Merrien, N. Leporrier
Publikováno v:
Human mutation, 15(3). Wiley-Liss Inc.
Hypophosphatasia is a rare inherited disorder characterized by defective bone mineralization and deficiency of serum and liver/bone/kidney-type alkaline phosphatase (L/B/K ALP) activity. We report the characterization of tissue-nonspecific alkaline p
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d5134fcb2259baf6ad3a1872c4ca90a6
https://pure.amc.nl/en/publications/fifteen-new-mutations-195ct-l12x-2982ag-t117n-a159t-r229s-9972ta-e274x-a331t-h364r-d389g-1256delc-r433h-n461i-c472s-in-the-tissuenonspecific-alkaline-phosphatase-tnsalp-gene-in-patients-with-hypophosphatasia(1e20d3e2-d311-4a3d-b50c-ad59a14caad3).html
https://pure.amc.nl/en/publications/fifteen-new-mutations-195ct-l12x-2982ag-t117n-a159t-r229s-9972ta-e274x-a331t-h364r-d389g-1256delc-r433h-n461i-c472s-in-the-tissuenonspecific-alkaline-phosphatase-tnsalp-gene-in-patients-with-hypophosphatasia(1e20d3e2-d311-4a3d-b50c-ad59a14caad3).html
Autor:
S. Percopo, Alessandro Ventura, Giuseppe Iacono, Fiorella Balli, Salvatore Musumeci, Ettore Cardi, Giuliano Torre, Gino Roberto Corazza, Carlo Catassi, Wilma Mantavoni, Rosanna Gatti, Françoise Clerget-Darpoux, J.L. Serre, Roberto Tosi, Francesco Cataldo, Jean François Eliaou, Stefano De Virgiliis, Umberto Volta, F. Clot, Colette Dib, Francesco Perri, R. Lazzari, Gianluigi De Angelis, Roberto Ferrari, Marie Claude Fulchignoni-Lataud, Luigi Greco, Riccardo Troncone, Patrizia Zavattari, F. Bouguerra, Giuseppe Magazzù, Annamaria Giunta, Marie Claude Babron, Maria Teresa Bardella
SummaryCeliac disease (CD), a malabsorption disorder of the small intestine, results from ingestion of gluten. The HLA risk factors involved in CD are well known but do not explain the entire genetic susceptibility. To determine the localization of o
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::41c94f29a99325cee6f54ff1840e3fff
https://hdl.handle.net/11368/1702586
https://hdl.handle.net/11368/1702586
Autor:
D. Gläser, S. E. Holder, B. Simon-Bouy, Agnès Taillandier, Sahar Mansour, A. Norman, D. Kostiner, Etienne Mornet, F. Stipoljev, J.L. Serre, J-L. Taillemite, Y. Merrien, Zuzana Dobbie, S-A Ivarsson, Marc Spentchian, J.J. van der Smagt, J. Roth, M. Herasse
Publikováno v:
Human Mutation. 22:105-106
Hypophosphatasia is an inherited disorder characterized by defective bone mineralization and deficiency of serum and tissue liver/bone/kidney alkaline phosphatase (L/B/K ALP) activity. We report the characterization of ALPL gene mutations in a series