Zobrazeno 1 - 10
of 50
pro vyhledávání: '"M M, Mannens"'
Autor:
D. W. Erkelens, S. M. Bijvoet, T. Bruin, Michael R. Hayden, Howard E. Henderson, John J.P. Kastelein, M. A. M. M. Mannens
Publikováno v:
American journal of medical genetics, 78(4), 313-316. Wiley-Liss Inc.
Mutations in the lipoprotein lipase (LPL) gene are the most important cause of familial chylomicronemia with over 70 mutations being recorded to date. Thus far de novo mutations have not been described. Here we report on the molecular analysis of the
Autor:
Jacopo Celli, Marcel A. M. M. Mannens, Maria Paola Lombardi, Michael T. Gabbett, Jasper J. van der Smagt, Lillian Bomme Ousager, Raoul C.M. Hennekam, Saskia Bulk, Maria Soller, Robert Smigiel, Eva-Lena Stattin, AK Lampe
Publikováno v:
Human Mutation
Human Mutation, Wiley, 2011, 32 (7), pp.723. ⟨10.1002/humu.21505⟩
Human mutation, 32(7), 723-728. Wiley-Liss Inc.
Lombardi, M P, Bulk, S, Celli, J, Lampe, A, Gabbett, M T, Ousager, L B, van der Smagt, J J, Soller, M, Stattin, E-L, Mannens, M A M M, Smigiel, R & Hennekam, R C 2011, ' Mutation update for the PORCN gene ', Human Mutation, vol. 32, no. 7, pp. 723-8 . https://doi.org/10.1002/humu.21505
Human Mutation; Vol 32
Human Mutation, Wiley, 2011, 32 (7), pp.723. ⟨10.1002/humu.21505⟩
Human mutation, 32(7), 723-728. Wiley-Liss Inc.
Lombardi, M P, Bulk, S, Celli, J, Lampe, A, Gabbett, M T, Ousager, L B, van der Smagt, J J, Soller, M, Stattin, E-L, Mannens, M A M M, Smigiel, R & Hennekam, R C 2011, ' Mutation update for the PORCN gene ', Human Mutation, vol. 32, no. 7, pp. 723-8 . https://doi.org/10.1002/humu.21505
Human Mutation; Vol 32
International audience; Mutations in the PORCN gene were first identified in Goltz-Gorlin syndrome patients in 2007. Since then several reports have been published describing a large variety of genetic defects resulting in the Goltz-Gorlin syndrome,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e86b3508bceb0ceb9f10ff7ebbc17556
https://hal.archives-ouvertes.fr/hal-00654141/file/PEER_stage2_10.1002%2Fhumu.21505.pdf
https://hal.archives-ouvertes.fr/hal-00654141/file/PEER_stage2_10.1002%2Fhumu.21505.pdf
Autor:
N J, Leschot, M M, Mannens
Publikováno v:
Nederlands tijdschrift voor geneeskunde. 144(23)
The base sequence of the entire human DNA will be known within only a few years. So far, 16,000 of an expected total of 100,000 genes have been identified. Nowadays there are different stages of molecular unraveling: from fully sequenced genes, inclu
Publikováno v:
Human mutation. 16(1)
Clinical, biochemical and molecular findings in a patient with methemoglobinemia type II are described. Furthermore, a comparison between methemoglobinemia type I and type II, both caused by a deficiency of NADH-cytochrome b5 reductase (b5R), is made
Autor:
M P, Lombardi, E J, Redeker, J C, Defesche, S W, Kamerling, M D, Trip, M M, Mannens, L M, Havekes, J J, Kastelein
Publikováno v:
Clinical genetics. 57(2)
Mutations in the LDL receptor are responsible for familial hypercholesterolemia (FH). At present, more than 600 mutations of the LDL receptor gene are known to underlie FH. However, the array of mutations varies considerably in different populations.
Autor:
R G, Boot, G H, Renkema, M, Verhoek, A, Strijland, J, Bliek, T M, de Meulemeester, M M, Mannens, J M, Aerts
Publikováno v:
The Journal of biological chemistry. 273(40)
The human chitinase, named chitotriosidase, is a member of family 18 of glycosylhydrolases. Following the cloning of the chitotriosidase cDNA (Boot, R. G., Renkema, G. H., Strijland, A., van Zonneveld, A. J., and Aerts, J. M. F. G. (1995) J. Biol. Ch
Autor:
R G, Boot, C E, Hollak, M, Verhoek, P, Sloof, B J, Poorthuis, W J, Kleijer, R A, Wevers, M H, van Oers, M M, Mannens, J M, Aerts, S, van Weely
Publikováno v:
Human mutation. 10(5)
Gaucher disease is a recessively inherited lysosomal storage disorder that is caused by a deficiency in glucocerebrosidase activity. The clinical expression is markedly heterogeneous with respect to age of onset, progression, severity, and neurologic
Autor:
Hollak CE; Department of Internal Medicine, Division of Endocrinology and Metabolism, Academic Medical Center, Amsterdam, The Netherlands. c.e.hollak@amc.uva.nl, de Sonnaville ES, Cassiman D, Linthorst GE, Groener JE, Morava E, Wevers RA, Mannens M, Aerts JM, Meersseman W, Akkerman E, Niezen-Koning KE, Mulder MF, Visser G, Wijburg FA, Lefeber D, Poorthuis BJ
Publikováno v:
Molecular genetics and metabolism [Mol Genet Metab] 2012 Nov; Vol. 107 (3), pp. 526-33. Date of Electronic Publication: 2012 Jun 30.
Autor:
Steenman M; Department of Human Genetics, University of Amsterdam, Academic Medical Center, Amsterdam, The Netherlands., Westerveld A, Mannens M
Publikováno v:
Genes, chromosomes & cancer [Genes Chromosomes Cancer] 2000 May; Vol. 28 (1), pp. 1-13.
Autor:
Alders M; Department of Human Genetics and Department of Clinical Genetics, Academic Medical Center, 1105 AZ Amsterdam, The Netherlands., Ryan A, Hodges M, Bliek J, Feinberg AP, Privitera O, Westerveld A, Little PF, Mannens M
Publikováno v:
American journal of human genetics [Am J Hum Genet] 2000 May; Vol. 66 (5), pp. 1473-84. Date of Electronic Publication: 2000 Apr 10.