Zobrazeno 1 - 9
of 9
pro vyhledávání: '"Andre P, Abbes"'
Publikováno v:
Journal of Laboratory Medicine, Vol 44, Iss 6, Pp 357-359 (2020)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b51217edcac62228595706ed10e14048
https://doaj.org/article/f77a7d353c9546678106119aa6782911
https://doaj.org/article/f77a7d353c9546678106119aa6782911
Autor:
Annuska Strunk, Jan S. A. G. Schouten, W. Ludo van der Pol, Henny H. Lemmink, Andre P. Abbes, Inge Cuppen, Antoine R. Stuitje, Fay Lynn Asselman, Henk Engel, Chris Hettinga, Reinier Snetselaar, Eline M. Sepers
Publikováno v:
International Journal of Neonatal Screening, 5(2)
International Journal of Neonatal Screening
Volume 5
Issue 2
International Journal of Neonatal Screening, Vol 5, Iss 2, p 21 (2019)
International journal of neonatal screening, 5(2):21. MDPI AG
International Journal of Neonatal Screening
Volume 5
Issue 2
International Journal of Neonatal Screening, Vol 5, Iss 2, p 21 (2019)
International journal of neonatal screening, 5(2):21. MDPI AG
Spinal muscular atrophy (SMA) is one of the leading genetic causes of infant mortality with an incidence of 1:10,000. The recently-introduced antisense oligonucleotide treatment improves the outcome of this disease, in particular when applied at an e
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::34deb54251797cbe73fcfd540fb7ecae
https://dspace.library.uu.nl/handle/1874/388440
https://dspace.library.uu.nl/handle/1874/388440
Autor:
Andre P. Abbes, Theresia M. Westers, Arjan A. van de Loosdrecht, Annuska Strunk, Guus Westra, Martine E.D. Chamuleau, Pino J. Poddighe, Tom G. H. Wiggers, Ellen Kuiper-Kramer
Publikováno v:
Cytometry Part B: Clinical Cytometry. 86:280-287
The strongest prognostic factor in chronic B-cell lymphocytic leukemia (CLL) is the mutational status of the immunoglobulin heavy chain variable region (IGHV) genes. Determination of this mutational status is laborious and therefore not applied in ro
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0f337954d6925325c34cc8afb8942d13
https://doi.org/10.1002/cyto.b.21132
https://doi.org/10.1002/cyto.b.21132
Autor:
R. Zalm, J. Peter H. Burbach, Henk Engel, Erica L T van den Akker, Marga Nijenhuis, Andre P. Abbes, A.A.M. Franken, David de Wied
Publikováno v:
The Journal of Clinical Endocrinology & Metabolism. 86:3410-3420
Familial neurohypophysial diabetes insipidus (FNDI) is an autosomal dominant trait in which expression of a mutant vasopressin prohormone reduces vasopressin production. We investigated the NP85 Cys→Gly mutant vasopressin prohormone in a large kind
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::9eaf67605e187ed2c2bd6d54edee6531
https://doi.org/10.1210/jcem.86.7.7686
https://doi.org/10.1210/jcem.86.7.7686
Autor:
Marco R. De Groot, Anton A.M. Franken, Valentijn R. Drexhage, Bennie Bruggeman, Andre P. Abbes, Henk Engel, Erica L T van den Akker
Publikováno v:
Clinical Chemistry. 46:1699-1702
Familial neurohypophyseal diabetes insipidus (FNDI) is a rare autosomal dominant inherited disease, characterized by serious polyuria and polydipsia, caused by deficient neurosecretion of the antidiuretic hormone, arginine vasopressin (AVP). Vasopres
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::6e09608d6304e73698d88831b6f71e0c
https://doi.org/10.1093/clinchem/46.10.1699
https://doi.org/10.1093/clinchem/46.10.1699
Autor:
Tom G H, Wiggers, Guus, Westra, Theresia M, Westers, Andre P, Abbes, Annuska, Strunk, Ellen, Kuiper-Kramer, Pino, Poddighe, Arjan A, van de Loosdrecht, Martine E D, Chamuleau
Publikováno v:
Cytometry. Part B, Clinical cytometry.
The strongest prognostic factor in chronic B-cell lymphocytic leukaemia (CLL) is the mutational status of the immunoglobulin heavy chain variable region (IGHV) genes. Determination of this mutational status is laborious and therefore not applied in r
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::6dc074d4687459a557303443d13ec290
https://pubmed.ncbi.nlm.nih.gov/24124110
https://pubmed.ncbi.nlm.nih.gov/24124110
Autor:
Martin J. W. IJsseldijk, Andre P. Abbes, Ellen C. Dompeling, Henk Engel, Annuska Strunk, Bert Dikkeschei, Robbert J. Slingerland, Jasper A. Remijn, Philip G. de Groot
Publikováno v:
Clinical Chemical Laboratory Medicine. 45
Background: The platelet adenosine 5'-diphosphate (ADP) receptor P2Y 12 plays a crucial role in haemostasis. Only a few patients with haemorrhagic diathesis due to molecular defects in the P2Y 12 receptor have been described so far. We report a novel
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::abb78ee6326185298608a240cf9cdbdb
https://doi.org/10.1515/cclm.2007.036
https://doi.org/10.1515/cclm.2007.036
Autor:
Jan Danneberg, Jan Gerrits, Alexander Martens, Henk Engel, Andre P. Abbes, Ben J. M. Bruggeman
Publikováno v:
Clinical Chemistry. 44:349-351
1 Prothrombin (coagulation factor II) is the precursor of thrombin, which participates as a serine protease (factor II) in the coagulation cascade. Thrombin is essential in the processes of hemostasis and thrombosis (1)(2)(3). The gene that codes for
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::772c6592c79a7d799ae61030298f8e1f
https://doi.org/10.1093/clinchem/44.2.349
https://doi.org/10.1093/clinchem/44.2.349
Autor:
Andre P. Abbes, J. P. H. Burbach, Gábor L. Kovács, E.L.T. van den Akker, D. de Wied, Henk Engel, J. Bruins, A.A.M. Franken
Publikováno v:
Psychoneuroendocrinology. 31(1)
Familial neurohypophysial diabetes insipidus (FNDI) is caused by a defect in vasopressin synthesis and release as a result of a heterozygous mutation in the gene for the vasopressin prohormone. The predominant characteristic of FNDI is excessive thir
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5af639af60f2c626473f110a5268bd92
https://pubmed.ncbi.nlm.nih.gov/16125866
https://pubmed.ncbi.nlm.nih.gov/16125866