Natural history of hereditary spherocytosis during the first year of life

Autor: Delhommeau, F., Cynober, T., Schischmanoff, P.O., Rohrlich, P., Delaunay, J., Mohandas, N., Tchernia, G.

Publikováno v: In Blood 15 January 2000 95(2):393-397

Decentralization of Next-Generation RNA Sequencing-Based MammaPrint® and BluePrint® Kit at University Hospitals Leuven and Curie Institute Paris.

Autor: Slembrouck L; KU Leuven - University of Leuven, Department of Oncology, B-3000 Leuven, Belgium. Electronic address: laurence.slembrouck@kuleuven.be., Darrigues L; Curie Institute, Department of Surgery, Paris Descartes University, F-75248, France., Laurent C; Curie Institute, Residual Tumor & Response to Treatment Laboratory, RT2Lab, Paris Descartes University, INSERM, U932 Immunity and Cancer, Paris, F-75248, France., Mittempergher L; Agendia, Department of Research and Development, Medical Affairs, Amsterdam, The Netherlands., Delahaye LJ; Agendia, Department of Research and Development, Medical Affairs, Amsterdam, The Netherlands., Vanden Bempt I; KU Leuven - University of Leuven, University Hospitals Leuven, Department of Human Genetics, B-3000 Leuven, Belgium., Vander Borght S; KU Leuven - University of Leuven, University Hospitals Leuven, Department of Human Genetics, B-3000 Leuven, Belgium; KU Leuven - University Hospitals Leuven, Department of Pathology, B-3000 Leuven, Belgium., Vliegen L; KU Leuven - University of Leuven, University Hospitals Leuven, Department of Human Genetics, B-3000 Leuven, Belgium., Sintubin P; KU Leuven - University of Leuven, University Hospitals Leuven, Department of Human Genetics, B-3000 Leuven, Belgium., Raynal V; Curie Institute, PSL Research University, Genomics of Excellence (ICGex) Platform, Paris, F-75248, France., Bohec M; Curie Institute, PSL Research University, Genomics of Excellence (ICGex) Platform, Paris, F-75248, France., Reyes C; Curie Institute, PSL Research University, Translational Research Department, Genomics Platform, Paris, F-75248, France., Rapinat A; Curie Institute, PSL Research University, Translational Research Department, Genomics Platform, Paris, F-75248, France., Helsmoortel C; KU Leuven - University of Leuven, University Hospitals Leuven, Genomics Core, B-3000 Leuven, Belgium., Jongen L; KU Leuven - University of Leuven, Department of Oncology, B-3000 Leuven, Belgium., Hoste G; KU Leuven - University of Leuven, University Hospitals Leuven, Department of Gynaecology and Obstetrics, B-3000 Leuven, Belgium., Neven P; KU Leuven - University of Leuven, Department of Oncology, B-3000 Leuven, Belgium; KU Leuven - University of Leuven, University Hospitals Leuven, Department of Gynaecology and Obstetrics, B-3000 Leuven, Belgium., Wildiers H; KU Leuven - University of Leuven, Department of Oncology, B-3000 Leuven, Belgium; KU Leuven - University of Leuven, University Hospitals Leuven, Department of General Medical Oncology, B-3000 Leuven, Belgium., Smeets A; KU Leuven - University of Leuven, Department of Oncology, B-3000 Leuven, Belgium; KU Leuven - University of Leuven, University Hospitals Leuven, Department of Surgical Oncology, B-3000 Leuven, Belgium., Nevelsteen I; KU Leuven - University of Leuven, Department of Oncology, B-3000 Leuven, Belgium; KU Leuven - University of Leuven, University Hospitals Leuven, Department of Surgical Oncology, B-3000 Leuven, Belgium., Punie K; KU Leuven - University of Leuven, Department of Oncology, B-3000 Leuven, Belgium; KU Leuven - University of Leuven, University Hospitals Leuven, Department of General Medical Oncology, B-3000 Leuven, Belgium., Van Nieuwenhuysen E; KU Leuven - University of Leuven, Department of Oncology, B-3000 Leuven, Belgium; KU Leuven - University of Leuven, University Hospitals Leuven, Department of Gynaecology and Obstetrics, B-3000 Leuven, Belgium., Han S; KU Leuven - University of Leuven, Department of Oncology, B-3000 Leuven, Belgium; KU Leuven - University of Leuven, University Hospitals Leuven, Department of Gynaecology and Obstetrics, B-3000 Leuven, Belgium., Vincent Salomon A; Curie Institute, Department of Tumor Biology, Paris, F-75248, France., Laas Faron E; Curie Institute, Department of Surgery, Paris Descartes University, F-75248, France., Cynober T; Curie Institute, Administration and General Services, Paris, F-75248, France., Gentien D; Curie Institute, PSL Research University, Translational Research Department, Genomics Platform, Paris, F-75248, France., Baulande S; Curie Institute, PSL Research University, Genomics of Excellence (ICGex) Platform, Paris, F-75248, France., Snel MH; Agendia, Department of Research and Development, Medical Affairs, Amsterdam, The Netherlands., Witteveen AT; Agendia, Department of Research and Development, Medical Affairs, Amsterdam, The Netherlands., Neijenhuis S; Agendia, Department of Research and Development, Medical Affairs, Amsterdam, The Netherlands., Glas AM; Agendia, Department of Research and Development, Medical Affairs, Amsterdam, The Netherlands., Reyal F; Curie Institute, Department of Surgery, Paris Descartes University, F-75248, France; Curie Institute, Residual Tumor & Response to Treatment Laboratory, RT2Lab, Paris Descartes University, INSERM, U932 Immunity and Cancer, Paris, F-75248, France., Floris G; KU Leuven - University Hospitals Leuven, Department of Pathology, B-3000 Leuven, Belgium; KU Leuven - University of Leuven, Department of Imaging and Pathology, Laboratory of Translational Cell & Tissue Research.

Publikováno v: Translational oncology [Transl Oncol] 2019 Dec; Vol. 12 (12), pp. 1557-1565. Date of Electronic Publication: 2019 Sep 09.

Heavy transfusions and presence of an anti-protein 4.2 antibody in 4. 2(-) hereditary spherocytosis (949delG)

Autor: Beauchamp-Nicoud, A., Morle, L., Lutz, H. U., Stammler, P., Agulles, O., Petermann-Khder, R., Iolascon, A., Silverio Perrotta, Cynober, T., Tchernia, G., Delaunay, J., Baudin-Creuza, V.

Publikováno v: Europe PubMed Central
Scopus-Elsevier

A patient with hereditary spherocytosis (HS) was found not to have red cell membrane protein 4.2. This rare form of HS, or 4.2 (-) HS, stems from mutations within the ELB42 or the EPB3 genes. The patient had long suffered from a gastric ulcer and imp

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::99d53f73244e3029ad5ae30f2d69eb75
http://hdl.handle.net/11591/196244

Pleiotropic syndrome of dehydrated hereditary stomatocytosis, pseudohyperkalemia, and perinatal edema maps to 16q23-q24

Autor: Grootenboer, S., Schischmanoff, P. -O, Laurendeau, I., Cynober, T., Tchernia, G., Dommergues, J. -P, Dhermy, D., Bost, M., Varet, B., Snyder, M., Ballas, S. K., Ducot, B., Babron, M. -C, Stewart, G. W., Paolo Gasparini, Iolascon, A., Delaunay, J.

Publikováno v: Scopus-Elsevier

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::c39d7359a6934452772015b4318b47e8
http://hdl.handle.net/11588/148706

Natural history of hereditary spherocytosis during the first year of life

Autor: Francois Delhommeau, Cynober T, Po, Schischmanoff, Rohrlich P, Delaunay J, Mohandas N, Tchernia G

Publikováno v: Europe PubMed Central

Although hereditary spherocytosis (HS) is a common disorder of the red cell membrane, its clinical and biologic expression at birth and in early infancy has received little attention. In order to obtain insights into the natural history of HS during

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::31a08b90278bf2eb258f40c66a2ead46
https://pubmed.ncbi.nlm.nih.gov/10627440