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Akademický článek
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Publikováno v:
Journal of Cystic Fibrosis. 17:S62
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::17296ff8ac7bada771896c6cc624e26e
https://doi.org/10.1016/s1569-1993(18)30310-2
https://doi.org/10.1016/s1569-1993(18)30310-2
Publikováno v:
Archives of Cardiovascular Diseases Supplements. 10:95
Sudden cardiac death (SCD) or syncope may remain unexplained after extensive cardiac investigations. However, genetic testing may help to establish a clear diagnosis in a substantial proportion of these cases. We here report our experience in 5 patie
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::57ab9a98b6e18394d08e7f7e9f477238
https://doi.org/10.1016/j.acvdsp.2017.11.252
https://doi.org/10.1016/j.acvdsp.2017.11.252
Autor:
Cina, F Fellmann
Publikováno v:
Schweizer Archiv für Neurologie und Psychiatrie. 157:359-365
Nowadays, healthy individuals are able to undergo genetic testing in order to find out whether or not they will develop defined genetic conditions in the future. Predictive testing, which is commonly performed in cancer genetics, is also available fo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::84119d7a4b33a644692767099ba46453
https://doi.org/10.4414/sanp.2006.01788
https://doi.org/10.4414/sanp.2006.01788
Publikováno v:
Cytogenetic and Genome Research. 92:63-68
Chromosome analysis performed on a 30-year-old man revealed a 46,Y,der(X),t(X;Y)(qter→p22::q11→qter) karyotype, confirmed by fluorescence in situ hybridization (FISH). The man was of short stature, and no mental retardation was noticed; genitalia
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5aa835a6bff0566d908f249cd4c2c28d
https://doi.org/10.1159/000056870
https://doi.org/10.1159/000056870
Publikováno v:
Molecular Human Reproduction. 6:795-799
Lack of data on the genotype-phenotype relationship in cases of AZF microdeletions is due to the limited number of histological investigations in human male infertility cases. We investigated the possibility of retrospective detection of Yq11 microde
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::e56fb15910f86600f2a3841b3636c576
https://doi.org/10.1093/molehr/6.9.795
https://doi.org/10.1093/molehr/6.9.795
Autor:
Alexis Brice, Isabelle Nelson, Sylvie Forlani, C. Depienne, Cyril Goizet, Pascale Ribai, Alexandra Durr, Merle Ruberg, Michito Namekawa, F. Fellmann, G. Stevanin
Publikováno v:
Neurology. 66:112-114
Seven families with six different SPG3A mutations were identified among 106 with autosomal dominant hereditary spastic paraplegia (HSP). Two mutations were novel (T162P, C375R). SPG3A was twice as frequent as SPG4 in patients with onset before age 10
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fdee6797f4feb944b5ef37f5d0ddf97f
https://doi.org/10.1212/01.wnl.0000191390.20564.8e
https://doi.org/10.1212/01.wnl.0000191390.20564.8e
Autor:
F. Sun, K. Bretherick, K. Härkönen, P.J. Turek, J. Benet, P. Cifuentes, M. Bosch, R.H. Martin, F. Marchetti, E. Anton, N. Burrello, A.E. Calogero, S.B. Freeman, C. Roux, E.G. Allen, J. Egozcue, W.A. Robbins, W.P. Robinson, Z. Sarrate, E. Ko, J.L. Bresson, J.D.A. Delhanty, S. Munné, E. Vicari, C. Joanne, S. Viville, T. Anahory, S.D. Perreault, A. Buwe, J. Gair, C. Foresta, D. Warburton, U. Eichenlaub-Ritter, N. Miharu, G. Wu, F. Fellmann, F. Wei, J. Rubes, J. Blanco, A. Ferlin, F. Vidal, M. Vozdova, N.M.D. Rives, C. Templado, N. Li, M. Codina-Pascual, N. Steuerwald, N. Machev, S. Egozcue, A. Kuliev, C. Greene, J. Jia, A. Garolla, R. Martin, M.C. Clavequin, A. Rademaker, P. Gosset, M. Oliver-Bonet, N.E. Lamb, J. Cieslak, F. Pellestor, D.A. Elashoff, M. Guttenbach, S.L. Sherman, U.A. Mau-Holzmann, F. Morel, L. Xun, J. Navarro, Y. Verlinsky, C. Tripogney, M. Schmid, T.J. Hassold, J.B. Mailhes, E. Oracova, S. Hamamah
Publikováno v:
Cytogenetic and Genome Research. 111:403-405
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::801218d8e017a7210d3a2209c1dd7b9a
https://doi.org/10.1159/000088633
https://doi.org/10.1159/000088633
Publikováno v:
Prenatal Diagnosis. 16:1046-1050
We report one case of de novo complex chromosomal rearrangement (CCR) t(2q;3p;4q;13q) with at least five chromosomal breakpoints. This CCR was detected prenatally at 22 weeks of gestation, when mild echographic indications were disclosed during a rou
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::152f68a1cca5fb707c7d4de75c3156da
https://doi.org/10.1002/(sici)1097-0223(199611)16:11<1046::aid-pd989>3.0.co
https://doi.org/10.1002/(sici)1097-0223(199611)16:11<1046::aid-pd989>3.0.co