Polyglobulie rare par mutation du gène EGLN1 : à propos d’un cas et revue de la littérature

Autor: Bonnin, A., Gardie, B., Girodon, F., Airaud, F., Garrec, C., Bézieau, S., Vignon, G., Mottaz, P., Labrousse, J., Lellouche, F.

Publikováno v: In La revue de médecine interne March 2020 41(3):196-199

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Identification of a new VHL exon and complex splicing alterations in familial erythrocytosis or von Hippel-Lindau disease

Autor: Lenglet, M. Robriquet, F. Schwarz, K. Camps, C. Couturier, A. Hoogewijs, D. Buffet, A. Knight, S.J.L. Gad, S. Couvé, S. Chesnel, F. Pacault, M. Lindenbaum, P. Job, S. Dumont, S. Besnard, T. Cornec, M. Dreau, H. Pentony, M. Kvikstad, E. Deveaux, S. Burnichon, N. Ferlicot, S. Vilaine, M. Mazzella, J.-M. Airaud, F. Garrec, C. Heidet, L. Irtan, S. Mantadakis, E. Bouchireb, K. Debatin, K.-M. Redon, R. Bezieau, S. Brigitte Bressac-de, P. Teh, B.T. Girodon, F. Randi, M.-L. Putti, M.C. Bours, V. Van Wijk, R. Göthert, J.R. Kattamis, A. Janin, N. Bento, C. Taylor, J.C. Arlot-Bonnemains, Y. Richard, S. Gimenez-Roqueplo, A.-P. Cario, H. Gardie, B.

Chuvash polycythemia is an autosomal recessive form of erythrocytosis associated with a homozygous p.Arg200Trp mutation in the von Hippel-Lindau (VHL) gene. Since this discovery, additional VHL mutations have been identified in patients with congenit

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::4e49aea814c8ea37e3bc3d6594afbe66
https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:3000695

Sequencing of the hypoxia pathway genes in patients with congenital erythrocytoses by next generation sequencing

Autor: Girodon, F., Pacault, F., Airaud, M., Garrec, C., Corbineau, S., Casadevall, N., Rose, C., de Renzis, B., Peroni, E., Randi, Ml., Dumont, S., Ricordeau, I., Bezieau, S., Gardie, B.

Publikováno v: Haematologica
22nd Congress of the European Hematology Association
22nd Congress of the European Hematology Association, Jun 2017, Madrid, Spain. pp.P712
22nd Congress of the European Hematology Association, Jun 2017, Madrid, Spain. Haematologica, 102 (S2), pp.P712, 2017, 22nd Congress of the European Hematology Association Madrid, Spain, June 22–25, 2017. 〈http://www.haematologica.org/content/102/s2〉

IF 7.702; International audience

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::6f25805ab8af163fba5fc99cf9e4cb5a
https://u-bourgogne.hal.science/hal-01633522