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Browsing by Author Maarel, S.M. van der

Full Text	Issue Date	Title	Author(s)
	2011	Mutations in ZBTB24 are associated with immunodeficiency, centromeric instability, and facial anomalies syndrome type 2	Greef, J.C. de; Wang, J.; Balog, J.; Dunnen, J.T. den; Frants, R.R., et al
	2011	Accelerated skeletal muscle ageing is a molecular signature in OPMD.	Venema, A.; Anvar, S.A.; Hoen, P.A.C. 't; Sluijs, B.M. van der; Engelen, B.G. van, et al
	2010	A unifying genetic model for facioscapulohumeral muscular dystrophy.	Lemmers, R.J.; Vliet, P.J.C. Van; Klooster, R.; Sacconi, S.; Camano, P., et al
	2010	Facioscapulohumerale spierdystrofie	Wilbers, J.; Frants, R.R.; Engelen, B.G.M. van; Padberg, G.W.A.M.; Maarel, S.M. van der
	2010	Clinical features of facioscapulohumeral muscular dystrophy 2.	Greef, J.C. de; Lemmers, R.J.; Camano, P.; Day, J.W.; Sacconi, S., et al
	2009	Contraction-dependent (FSHD1) and independent (FSHD2) epigenetic changes of D4Z4 unify FSHD.	Greef, J.C. de; Lemmers, R.J.L.F.; Engelen, B.G.M. van; Sacconi, S.; Venance, S.L., et al
	2009	Common epigenetic changes of D4Z4 in contraction-dependent and contraction-independent FSHD.	Greef, J.C. de; Lemmers, R.J.; Engelen, B.G.M. van; Sacconi, S.; Venance, S.L., et al
	2008	Clinical spectrum of immunodeficiency, centromeric instability and facial dysmorphism (ICF syndrome).	Hagleitner, M.M.; Lankester, A.; Maraschio, P.; Hulten, M.; Fryns, J.P., et al
	2007	ICF syndrome: high variability of the chromosomal phenotype and association with classical Hodgkin lymphoma.	Schuetz, C.; Barbi, G.; Barth, T.F.; Hoenig, M.; Schulz, A., et al
	2007	Facioscapulohumeral muscular dystrophy.	Maarel, S.M. van der; Frants, R.R.; Padberg, G.W.A.M.
	2007	Hypomethylation is restricted to the D4Z4 repeat array in phenotypic FSHD.	Greef, J.C. de; Wohlgemuth, M.; Chan, O.A.; Hansson, K.B.; Smeets, D.F.C.M., et al
	2007	Specific sequence variations within the 4q35 region are associated with facioscapulohumeral muscular dystrophy.	Lemmers, R.J.L.F.; Wohlgemuth, M.; Gaag, K.J. van der; Vliet, P. van der; Teijlingen, C.M. van, et al
	2006	No effect of folic acid and methionine supplementation on D4Z4 methylation in patients with facioscapulohumeral muscular dystrophy.	Kooi, E.L. van der; Greef, J.C. de; Wohlgemuth, M.; Frants, R.R.; Asseldonk, R.J. van, et al
	2005	Recurrent somatic mosaicism for D4Z4 contractions in a family with facioscapulohumeral muscular dystrophy.	Buzhov, B.T.; Lemmers, R.J.L.F.; Tournev, I.; Wielen, M.J.R. van der; Ishpekova, B., et al
	2005	Variable hypomethylation of D4Z4 in facioscapulohumeral muscular dystrophy.	Overveld, P.G; Enthoven, L.; Ricci, E.; Rossi, M.; Felicetti, L., et al
	2004	FRG1P is localised in the nucleolus, Cajal bodies, and speckles.	Koningsbruggen, S. van; Dirks, R.W.; Mommaas, A.M.; Onderwater, J.J.; Deidda, G., et al
	2004	Contractions of D4Z4 on 4qB subtelomeres do not cause facioscapulohumeral muscular dystrophy.	Lemmers, R.J.L.F.; Wohlgemuth, M.; Frants, R.R.; Padberg, G.W.A.M.; Morava, E., et al
	2004	Ventilatory support in facioscapulohumeral muscular dystrophy.	Wohlgemuth, M.; Kooi, E.L. van der; Kesteren, R.G. van; Maarel, S.M. van der; Padberg, G.W.A.M.
	2004	Mechanism and timing of mitotic rearrangements in the subtelomeric D4Z4 repeat involved in facioscapulohumeral muscular dystrophy.	Lemmers, R.J.L.F.; Overveld, P.G; Sandkuijl, L.A.; Vrieling, H.; Padberg, G.W.A.M., et al
	2004	FRG2, an FSHD candidate gene, is transcriptionally upregulated in differentiating primary myoblast cultures of FSHD patients.	Rijkers, T.; Deidda, G.; Koningsbruggen, S. van; Geel, M. van; Lemmers, R.J.L.F., et al
	2004	Strength training and albuterol in facioscapulohumeral muscular dystrophy.	Kooi, E.L. van der; Vogels, O.J.M.; Asseldonk, R.J. van; Lindeman, E.J.M.; Hendriks, J.C.M., et al
	2004	Localization of 4q35.2 to the nuclear periphery: is FSHD a nuclear envelope disease?	Masny, P.S.; Bengtsson, U.; Chung, S.A.; Martin, J.H.; Engelen, B.G.M. van, et al
	2004	Autosomal recessive oculopharyngodistal myopathy: a distinct phenotypical, histological, and genetic entity.	Sluijs, B.M. van der; Laak, H.J. ter; Scheffer, H.; Maarel, S.M. van der; Engelen, B.G.M. van
	2004	Somatic mosaicism in FSHD often goes undetected.	Lemmers, R.J.L.F.; Wielen, M.J.R. van der; Bakker, E.; Padberg, G.W.A.M.; Frants, R.R., et al
	1997	More insight in the genetic mechanisms underlying facioscapulohumeral muscular dystrophy	Maarel, S.M. van der; Lemmers, R.J.L.; Deutekom, J.C.T. van; Bakker, E.; Wielen, M.J.R. van der, et al
	1996	Cloning and characterization of DXS6673E, a candidate gene for X-linked mental retardation in Xq13.1	Maarel, S.M. van der; Scholten, I.H.J.M.; Huber, I.; Philippe, C.; Suijkerbuijk, R.F., et al
	1995	Yeast artificial chromosome cloning of the Xq13.3-q21.31 region and fine mapping of a deletion associated with choroideremia and nonspecific mental retardation	Maarel, S.M. van der; Scholten, I.H.J.M.; Maat-Kievit, J.A.; Huber, I.; Kok, Y.J.M. de, et al
	1995	A duplication/paracentric inversion associated with familial X-linked deafness (DFN3) suggests the presence of a regulatory element more than 400 kb upstream of the POU3F4 gene	Kok, Y.J.M. de; Merkx, G.F.M.; Maarel, S.M. van der; Huber, I.; Malcolm, S., et al
	1995	Further mutations in Brain 4 (POU3F4) clarify the phenotype in the X-linked deafness, DFN3	Bitner-Glindzicz, M.; Turnpenny, P.; Höglund, P.; Kääriäinen, H.; Sankila, E.M., et al
	1995	Association between X-linked mixed deafness and mutations in the POU domain gene POU3F4	Kok, Y.J.M. de; Maarel, S.M. van der; Bitner-Glindzicz, M.; Huber-Bach, I.; Monaco, A.P., et al