Zobrazeno 1 - 10
of 744
pro vyhledávání: '"S. GILGENKRANTZ"'
Autor:
Agnès Vignery, S. Gilgenkrantz
Publikováno v:
médecine/sciences. 21:1070-1075
La fusion est un mecanisme fondamental utilise par les organismes multicellulaires. Elle joue un role essentiel au cours du developpement physiologique. Ainsi, la fusion est-elle le premier evenement a l’origine meme de la vie lors du contact fusio
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::54ef98fed85b5397901010637cec341e
https://doi.org/10.1051/medsci/200521121070
https://doi.org/10.1051/medsci/200521121070
Autor:
E.M Rivera, S Gilgenkrantz
Publikováno v:
Annales de Génétique. 46:433-442
In his book “La Memoire, l’Histoire, l’Oubli” Paul Ricoeur reminds us of “the difficult path that must be traversed between memory and its historic representation”. It is hazardous to try it. But it is worth attempting to sketch some face
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::53886f305f605f9ceed5cf68a6f0bb6b
https://doi.org/10.1016/s0003-3995(03)00012-1
https://doi.org/10.1016/s0003-3995(03)00012-1
Autor:
S Gilgenkrantz, J.C Lambert, M.F. Croquette, C Moutou, B. Delobel, J.L Lanoe, C. Stoll, G Plessis, J.-C. Bouix, Jean-Louis Mandel, V Biancalana, Mireille Cossée, G Malpuech, M Pechevis
Publikováno v:
Archives de Pédiatrie. 4:227-236
Resume Le retard mental avec chromosome X fragile est la cause la plus frequente de retard mental hereditaire. L'identification de la mutation instable responsable a permis la mise au point d'un test moleculaire entierement fiable tant pour le diagno
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::3382cba2688a47e8f0eb808bf1c577bb
https://doi.org/10.1016/s0929-693x(97)87235-1
https://doi.org/10.1016/s0929-693x(97)87235-1
Autor:
D. Recan, Michel Fardeau, O. Broux, S. Gilgenkrantz, D. Theau, Christophe Philippe, Fernando M.S. Tomé, H. Collin, N. Abbadi, J.‐C. Kaplan, Michèle Chery, H. Gilgenkrantz
Publikováno v:
American Journal of Medical Genetics. 52:198-206
A pair of female monozygotic (MZ) twins, heterozygous carriers for a deletion in the DMD gene and discordant for the clinical manifestations of Duchenne muscular dystrophy, were analyzed by molecular studies, in situ hybridization, and methylation pa
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2e52a8ccb0ee3b40c0a48c3240db54f3
https://doi.org/10.1002/ajmg.1320520215
https://doi.org/10.1002/ajmg.1320520215
Autor:
Wayne F. Flintoff, François Marçon, Michel Bahuau, Arnold Munnich, Jacqueline Levilliers, S. Gilgenkrantz, Jean Kachaner, Martine Le Merrer, Stanislas Lyonnet, Didier Lacombe
Publikováno v:
American Journal of Medical Genetics. 46:700-705
A linkage analysis has been performed on 6 two-generation families with classical Noonan syndrome to determine whether the shydrome is linked to neurofibromatosis type 1 on chromosome 17q or to neurofibromatosis type 2 on chromosome 22q. A significan
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::aaaf62ffec3ac6496f12dce47586da30
https://doi.org/10.1002/ajmg.1320460621
https://doi.org/10.1002/ajmg.1320460621
Autor:
Michel Fardeau, Marie-Ève Tremblay, F. Cottrell, H. Collin, S. Gilgenkrantz, Jean-Pierre Bouchard, Jacques P. Tremblay, Fernando M.S. Tomé, N. Abbadi, A. Rouche, Francine Malouin, D. Theau
Publikováno v:
Neuromuscular Disorders. 3:583-592
Monozygotic twin girls, both carriers of Duchenne muscular dystrophy, only one a severe symptomatic carrier and the other asymptomatic due to opposite lyonization, were studied. Myoblast clones were obtained from a muscle biopsy of the asymptomatic c
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::64c866089a6f795a8c85050f75abc331
https://doi.org/10.1016/0960-8966(93)90121-y
https://doi.org/10.1016/0960-8966(93)90121-y
Autor:
Josseline Kaplan, N Philip, M L Chauvet, Sonia Abdelhak, Philippe Burlet, R Spiegel, Yves Dumez, Judith Melki, Valérie Raclin, S Gilgenkrantz
Publikováno v:
Journal of Medical Genetics. 29:171-174
Werdnig-Hoffmann disease is a common autosomal recessive neuromuscular disorder that results in paralysis and death. No treatment to prevent this disease or to alter its unremitting course has been found. Recently, linkage analysis with cloned DNA pr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::47594df45e74f8bc90ff76ca528db1b6
https://doi.org/10.1136/jmg.29.3.171
https://doi.org/10.1136/jmg.29.3.171
Autor:
N. QUADERI, S. SCHWEIGER, K. GAUDENZ, E. RUGARLI, W. BERGER, G. FELDMAN, M. VOLTA, G. ANDOLFI, S. GILGENKRANTZ, R. MARION, RCM HENNEKAM, JM OPITZ, M. MUENKE, HH ROPERS, BALLABIO, ANDREA, FRANCO, BRUNELLA
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______3730::b52449d9289782eca0094791a8b272e1
http://hdl.handle.net/11588/143893
http://hdl.handle.net/11588/143893
Autor:
S, Gilgenkrantz, E M, Rivera
Publikováno v:
Annales de genetique. 46(4)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::d816c87a347a03c4b366a4fd4026c878
https://pubmed.ncbi.nlm.nih.gov/14659778
https://pubmed.ncbi.nlm.nih.gov/14659778