Identification of novel mutations in MLC1 responsible for megalencephalic leukoencephalopathy with subcortical cysts

Autor: M S van der Knaap, P. K. I. Boor, Ruud B.H. Schutgens, B. Q. Yuan, Peter A. J. Leegwater, J. van der Steen, Allerdien Visser, Cees B.M. Oudejans, Andrea A.M. Könst, Jan C. Pronk

Publikováno v: Human Genetics, 110(3), 279-283. Springer Verlag
Leegwater, P A J, Boor, P K I, Yuan, B Q, Van Der Steen, J, Visser, A, Könst, A A M, Oudejans, C B M, Schutgens, R B H, Pronk, J C & Van Der Knaap, M S 2002, ' Identification of novel mutations in MLC1 responsible for megalencephalic leukoencephalopathy with subcortical cysts ', Human Genetics, vol. 110, no. 3, pp. 279-283 . https://doi.org/10.1007/s00439-002-0682-x

Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is an inherited neurologic disorder with macrocephaly before the age of one and slowly progressive deterioration of motor functions. Magnetic resonance imaging shows diffusely abnormal

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d4804ba9e2d5c03a79f892ad406776b1
https://doi.org/10.1007/s00439-002-0682-x

Identification of hash2-positive extravillus trophoblast cells in the peripheral blood of pregnant women

Autor: Cees B.M. Oudejans, John M.G. van Vugt, Andrea A.M. Könst, Monique A.M. Mulders, Wouter J. Florijn, Inge J. van Wijk

Publikováno v: Placenta. 19:23-33

Summary In order to develop a non-invasive procedure for prenatal diagnosis of genetic diseases, a procedure was established which permits isolation and detection of trophoblast cells circulating in the peripheral blood of pregnant women. Between wee

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::d14f67479a1221c36beb9ea35d8f45cb
https://doi.org/10.1016/s0143-4004(98)80004-0

Enrichment of fetal trophoblast cells from the maternal peripheral blood followed by detection of fetal deoxyribonucleic acid with a nested X/Y polymerase chain reaction

Autor: S. M. Weima, J. M. G. van Vugt, Cees B.M. Oudejans, Andrea A.M. Könst, Monique A.M. Mulders, I.J. van Wijk

Publikováno v: American Journal of Obstetrics and Gynecology. 174:871-876

OBJECTIVE: Fetal cells circulate in the maternal blood during early pregnancy. Because these cells are rare, noninvasive prenatal diagnosis from fetal cells can be achieved only after efficient enrichment procedures. Our aim was to develop a two-step

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::056d474769cbcfc1410699a58586ef84
https://doi.org/10.1016/s0002-9378(96)70315-0

The parent-of-origin effect of 10q22 in pre-eclamptic females coincides with two regions clustered for genes with down-regulated expression in androgenetic placentas

Autor: Marinus A. Blankenstein, Hidenori Kato, Andrea A.M. Könst, Cees B.M. Oudejans, Takao Matsuda, Inge J. van Wijk, Norio Wake, Peter A. J. Leegwater, Gustaaf A. Dekker, Augusta M. A. Lachmeijer, Leo P. ten Kate, Gerard Pals, Marie van Dijk, Bart A. Westerman, Joyce Mulders

Publikováno v: Molecular Human Reproduction, 10(8), 589-598. Oxford University Press
Oudejans, C B M, Mulders, J, Lachmeijer, A M A, van Dijk, M, Könst, A A M, Westerman, B A, van Wijk, I J, Leegwater, P A J, Kato, H D, Matsuda, T, Wake, N, Dekker, G A, Pals, G, ten Kate, L P & Blankenstein, M A 2004, ' The parent-of-origin effect of 10q22 in pre-eclamptic females coincides with two regions clustered for genes with down-regulated expression in androgenetic placentas ', Molecular Human Reproduction, vol. 10, no. 8, pp. 589-598 . https://doi.org/10.1093/molehr/gah080

By affected sib-pair linkage analysis of 24 families with pre-eclampsia, we confirm a susceptibility locus on chromosome 10q22.1 in Dutch females: a multipoint non-parametric linkage score of 3.6 near marker D10S1432 was obtained. Haplotype analysis

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8117cb7726b9dfeda3286326ef7bc795
https://pubmed.ncbi.nlm.nih.gov/15208369

Subunits of the translation initiation factor elF2B are mutant in leukoencephalopathy with vanishing white matter

Autor: Dafna Fonds, Allerdien Visser, Gerre Vermeulen, Paula Kersbergen, Sakkubai Naidu, Marjo S. van der Knaap, Carola G.M. van Berkel, Dragosh Mobach, Richard J.L.F. Lemmers, Andrea A.M. Könst, Rune R. Frants, Ruud B.H. Schutgens, Jan C. Pronk, Peter A. J. Leegwater, Cees B.M. Oudejans, Joyce Mulders

Publikováno v: Leegwater, P A J, Vermeulen, G, Könst, A A M, Naidu, S, Mulders, J, Visser, A, Kersbergen, P, Mobach, D, Fonds, D, Van Berkel, C G M, Lemmers, R J L F, Frants, R R, Oudejans, C B M, Schutgens, R B H, Pronk, J C & Van der Knaap, M S 2001, ' Subunits of the translation initiation factor elF2B are mutant in leukoencephalopathy with vanishing white matter ', Nature Genetics, vol. 29, no. 4, pp. 383-388 . https://doi.org/10.1038/ng764
Nature Genetics, 29(4), 383-388. Nature Publishing Group

Leukoencephalopathy with vanishing white matter (VWM) is an inherited brain disease that occurs mainly in children. The course is chronic-progressive with additional episodes of rapid deterioration following febrile infection or minor head trauma. We

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2084222e9cb41c8af579e0d2d3d9894a
https://research.vumc.nl/en/publications/a6211b2f-9175-4d2e-99c0-00954bcfd226