Search Results - "DE GREEF, J. C"

Clinical features of facioscapulohumeral muscular dystrophy 2 by DE GREEF, J. C, LEMMERS, R. J. L. F, DESNUELLE, C, SPULER, S, TARNOPOLSKY, M, VENANCE, S. L, FRANTS, R. R, VAN DER MAAREL, S. M, TAWIL, R, CAMANO, P, DAY, J. W, SACCONI, S, DUNAND, M, VAN ENGELEN, B. G. M, KIURU-ENARI, S, PADBERG, G. W, ROSA, A. L

“…In some 5% of patients with facioscapulohumeral muscular dystrophy (FSHD), no D4Z4 repeat contraction on chromosome 4q35 is observed. Such patients, termed…”
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Hypomethylation is restricted to the D4Z4 repeat array in phenotypic FSHD by DE GREEF, J. C, WOHLGEMUTH, M, CHAN, O. A, HANSSON, K. B, SMEETS, D, FRANTS, R. R, WEEMAES, C. M, PADBERG, G. W, VAN DER MAAREL, S. M

“…Patients with facioscapulohumeral muscular dystrophy (FSHD) show a contraction of the D4Z4 repeat array in the subtelomere of chromosome 4q. This D4Z4…”
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Clinical spectrum of immunodeficiency, centromeric instability and facial dysmorphism (ICF syndrome) by Hagleitner, M M, Lankester, A, Maraschio, P, Hultén, M, Fryns, J P, Schuetz, C, Gimelli, G, Davies, E G, Gennery, A, Belohradsky, B H, de Groot, R, Gerritsen, E J A, Mattina, T, Howard, P J, Fasth, A, Reisli, I, Furthner, D, Slatter, M A, Cant, A J, Cazzola, G, van Dijken, P J, van Deuren, M, de Greef, J C, van der Maarel, S M, Weemaes, C M R

“…Immunodeficiency, centromeric instability and facial dysmorphism (ICF syndrome) is a rare autosomal recessive disease characterised by facial dysmorphism,…”
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ICF syndrome: High variability of the chromosomal phenotype and association with classical Hodgkin lymphoma by Schuetz, C., Barbi, G., Barth, T.F.E., Hoenig, M., Schulz, A., Möeller, P., Smeets, D., de Greef, J.C., van der Maarel, S.M., Vogel, W., Debatin, K.‐M., Friedrich, W.

“…We report on two sibs with ICF syndrome (immunodeficiency, centromeric heterochromatin instability, and facial anomalies) diagnosed in the elder brother based…”
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No effect of folic acid and methionine supplementation on D4Z4 methylation in patients with facioscapulohumeral muscular dystrophy by van der Kooi, E.L., de Greef, J.C., Wohlgemuth, M., Frants, R.R., van Asseldonk, R.J.G.P., Blom, H.J., van Engelen, B.G.M., van der Maarel, S.M., Padberg, G.W.

“…Facioscapulohumeral muscular dystrophy (FSHD) is associated with a contraction of the D4Z4 allele on chromosome 4qter. There is also marked DNA hypomethylation…”
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P2.39 Testing for correlations between clinical parameters and epigenetic modifications in FSHD1 and FSHD2 by Balog, J, de Greef, J.C, Thijssen, P.E, Tawil, R, van der Maarel, S.M

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O-1. High frequency of hypomethylation in patients with fshd-like phenotype by Sacconi, S, de Greef, JC, Lemmers, RJLF, van der Maarel, SM, Desnuelle, C

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Epigenetic mechanisms of facioscapulohumeral muscular dystrophy by de Greef, Jessica C, Frants, Rune R, van der Maarel, Silvère M

“…Facioscapulohumeral muscular dystrophy (FSHD) seems to be caused by a complex epigenetic disease mechanism as a result of contraction of the polymorphic…”
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