Zobrazeno 1 - 10
of 83
pro vyhledávání: '"J. L. Serre"'
Autor:
Mahmoud Zureik, Agathe Billette De Villemeur, Isabelle Stücker, J. L. Serre, Patrick Arveux, Marie-Josèphe Saurel-Cubizolles, Christine Saura, Elisabeth Fabre-Guillevin, Jeanne Fresson, Dominique Simon, Pascale Tubert-Bitter, Catherine Bonaïti-Pellié, Bertrand Thélot, Alexis Elbaz, Nicolas Dantchev
Publikováno v:
médecine/sciences. 25:93-98
Autor:
Brigitte Simon-Bouy, J. L. Serre, M Martinez, A. Taillandier, André Boué, Etienne Mornet, Joëlle Boué, F. Muller
Publikováno v:
Clinical Genetics. 35:81-87
CF heterogeneity has been evidenced from both clinical and genetic observations. At least two clinical forms of CF are easily distinguishable: CF with meconium ileus and CF without meconium ileus. The results of prenatal diagnosis have shown that the
Publikováno v:
Clinical Genetics. 40:218-224
Thirteen mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene have been screened in a French sample of 185 cystic fibrosis (CF) patients, together with their respective associated RFLP haplotypes at the linked D7S23 locus
Autor:
B, Simon-Bouy, J-L, Serre
Publikováno v:
Gynecologie, obstetriquefertilite. 43(4)
Autor:
Catherine Quantin, Paul Avillach, C Riou, J L Serre, L Leneveut, J. Fresson, groupe de travail Cimes, Cuesp, Cnim, Cctirs, Cnil
Publikováno v:
Revue d'epidemiologie et de sante publique. 62(3)
Guide to good practices to ensure privacy protection in secondary use of medical records C. Riou *, J. Fresson , J.L. Serre , P. Avillach , L. Leneveut , C. Quantin f pour le groupe de travail CIMES, CUESP, CNIM, CCTIRS, CNIL a Departement d’inform
Autor:
J-L, Serre, A-L, Leutenegger, A, Bernheim, M, Fellous, A, Rouen, J-M, Kunstmann, C, Hyon, J-P, Siffroi
Publikováno v:
Gynecologie, obstetriquefertilite. 42(4)
Autor:
R Puddu, JM Rival, Peter Freisinger, S Peyramaure, F. Muller, H. Plauchu, J. L. Serre, P Bussière, J Godard, Andrea Superti-Furga, B. Simon-Bouy, M. Le Merrer, Renaud Touraine, F Kaper, J F Oury, Rolf E. Brenner, Agnès Taillandier, Etienne Mornet
Publikováno v:
European Journal of Human Genetics. 6:308-314
Hypophosphatasia is an inherited disorder characterised by defective bone mineralisation and deficiency of serum and tissue liver/bone/kidney alkaline phosphatase (L/B/K ALP) activity. We report the characterisation of tissue-nonspecific alkaline pho
Publikováno v:
European Journal of Human Genetics. 1:287-295
Some 250 different mutations have so far been screened in the cystic fibrosis (CF) gene. The 50 nonsense, 33 splicing and 60 frameshift mutations are randomly distributed within the gene, unlike the 107 missense mutations or amino acid deletions. A l
Autor:
M, Spentchian, Y, Merrien, M, Herasse, Z, Dobbie, D, Gläser, S E, Holder, S-A, Ivarsson, D, Kostiner, S, Mansour, A, Norman, J, Roth, F, Stipoljev, J-L, Taillemite, J J, van der Smagt, J-L, Serre, B, Simon-Bouy, A, Taillandier, E, Mornet
Publikováno v:
Human mutation. 22(1)
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
Autor:
A, Taillandier, A S, Lia-Baldini, M, Mouchard, B, Robin, F, Muller, B, Simon-Bouy, J L, Serre, A, Bera-Louville, M, Bonduelle, J, Eckhardt, D, Gaillard, A G, Myhre, S, Körtge-Jung, L, Larget-Piet, E, Malou, D, Sillence, I K, Temple, G, Viot, E, Mornet
Publikováno v:
Human mutation. 18(1)
Hypophosphatasia is a rare inherited disorder characterized by defective bone mineralization and deficiency of serum and tissue liver/bone/kidney tissue alkaline phosphatase (L/B/K ALP) activity. We report here the characterization of tissue-nonspeci