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Browsing by Author Frants, R.R.

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
	2010	Clinical features of facioscapulohumeral muscular dystrophy 2.	Greef, J.C. de; Lemmers, R.J.; Camano, P.; Day, J.W.; Sacconi, S., 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	A unifying genetic model for facioscapulohumeral muscular dystrophy.	Lemmers, R.J.; Vliet, P.J.C. Van; Klooster, R.; Sacconi, S.; Camano, P., et al
	2009	Familial hemiplegic migraine is associated with febrile seizures in an FHM2 family with a novel de novo ATP1A2 mutation.	Vries, B. de; Stam, A.H.; Kirkpatrick, M.; Molkot, K.R. van; Koenderink, J.B., 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	The expression of type III hyperlipoproteinemia: involvement of lipolysis genes.	Henneman, P.; Sman-de Beer, F. van der; Moghaddam, P.H.; Huijts, P.; Stalenhoef, A.F.H., 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	Two novel functional mutations in the Na+,K+-ATPase alpha2-subunit ATP1A2 gene in patients with familial hemiplegic migraine and associated neurological phenotypes.	Castro, M.J.; Nunes, B.; Vries, B. de; Lemos, C.; Molkot, K.R. van, et al
	2008	CACNA1A R1347Q: a frequent recurrent mutation in hemiplegic migraine.	Stam, A.H.; Molkot, K.R. van; Kremer, H.P.H.; Gartner, J.; Brown, J., et al
	2007	Recurrent ATP1A2 mutations in Portuguese families with familial hemiplegic migraine.	Castro, M.J.; Stam, A.H.; Lemos, C.; Barros, J.; Gouveia, R.G., et al
	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	First case of compound heterozygosity in Na,K-ATPase gene ATP1A2 in familial hemiplegic migraine.	Molkot, K.R. van; Stam, A.H.; Raman, A.; Koenderink, J.B.; Vries, L.B.A. de, 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
	2007	Facioscapulohumeral muscular dystrophy.	Maarel, S.M. van der; Frants, R.R.; Padberg, G.W.A.M.
	2007	Systematic analysis of three FHM genes in 39 sporadic patients with hemiplegic migraine	Vries, B. de; Freilinger, T.; Molkot, K.R. van; Koenderink, J.B.; Stam, A.H., et al
	2006	Migraine and MTHFR C677T genotype in a population-based sample.	Scher, A.I.; Terwindt, G.M.; Verschuren, W.M.M.; Kruit, M.C.; Blom, H.J., 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	Variable hypomethylation of D4Z4 in facioscapulohumeral muscular dystrophy.	Overveld, P.G; Enthoven, L.; Ricci, E.; Rossi, M.; Felicetti, L., 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
	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	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	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	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	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	Localization of the gene for Cowden disease to chromosome 10q22-23	Nelen, M.R.; Padberg, G.W.; Peeters, E.A.J.; Lin, A.Y.; Helm, B. van den, et al
	1996	Evidence for subtelomeric exchange of 3.3 kb tandemly repeated units between chromosomes 4q35 and 10q26 : implications for genetic counselling and etiology of FSHD1	Deutekom, J.C.T. van; Bakker, E.; Lemmers, R.J.L.F.; Wielen, M.J.R. van der; Bik, E., et al
	1996	The lipoprotein lipase (Asn291->Ser) mutation is associated with elevated lipid levels in families with familial combined hyperlipidaemia	Hoffer, M.J.V.; Bredie, S.J.H.; Boomsma, D.I.; Reymer, P.W.A.; Kastelein, J.J.P., et al
	1996	Localization of a gene for Möbius syndrome to chromosome 3q by linkage analysis in a Dutch family	Kremer, H.; Kuyt, L.P.; Helm, B. van den; Reen, M. van; Leunissen, J.A.M., et al
	1996	Identification of the first gene (FRG1) from the FSHD region on human chromosome 4q35	Deutekom, J.C.T. van; Lemmers, R.J.L.F.; Grewal, P.K.; Geel, M. van; Romberg, S., et al
	1996	Modulation of very low density lipoprotein production and clearance contributes to age- and gender-dependent hyperlipoproteinemia in apolipoprotein E3-Leiden transgenic mice	Vlijmen, B.J.M. van; Hof, H.B. van 't; Mol, M.J.T.M.; Boom, H. van der; Zee, A. van der, et al
	1996	Identification of the first gene (FRG1) from the FSHD region on human chromosome 4q35	Deutekom, J.C.T. van; Lemmers, R.J.L.F.; Grewal, P.K.; Geel, M. van; Romberg, S., et al
	1996	Diagnostic, predictive, and prenatal testing for facioscapulohumeral muscular dystrophy: diagnostic approach for sporadic and familial cases	Bakker, E.; Wielen, M.J.R. van der; Voorhoeve, E.; Ippel, P.F.; Padberg, G.W.A.M., et al
	1996	Diagnostic, predictive, and prenatal testing for facioscapulohumeral muscular dystrophy: Diagnostic approach for sporadic and familial cases	Bakker, E.; Wielen, M.J.R. van der; Voorhoeve, E.; Ippel, P.F.; Padberg, G.W., et al
	1996	Evidence for subtelomeric exchange of 3.3 kb tandemly repeated units between chromosomes 4q35 and 10q26: Implications for genetic counselling and etiology of FSHD1	Deutekom, J.C.T. van; Bakker, E.; Lemmers, R.J.L.F.; Wielen, M.J.R. van der; Bik, E., et al
	1996	Both lipolysis and hepatic uptake of VLDL are impaired in transgenic mice coexpressing human apolipoprotein E*3 Leiden and human apolipoprotein C1	Jong, M.C.; Dahlmans, V.E.H.; Gorp, P.J.J. van; Breuer, M.L.; Mol, M.J.T.M., et al
	1995	Early-Onset Facioscapulohumeral Muscular-Dystrophy	Brouwer, O.F.; Padberg, G.W.; Bakker, E.; Wijmenga, C.; Frants, R.R.
	1995	Early onset facioscapulohumeral muscular dystrophy	Brouwer, O.F.; Padberg, G.W.A.M.; Bakker, E.; Wijmenga, C.; Frants, R.R.
	1995	Hypokalemic periodic paralysis and the dihydropyridine receptor (CACNL1A3): genotype/phenotype correlations for two predominant mutations and evidence for the absence of a founder effect in 16 caucasian families	Elbaz, A.; Vale-Santos, J.; Jurkat-Rott, K.; Lapie, P.; Ophoff, R.A., et al
	1995	High proportion of new mutations and possible anticipation in Brazilian facioscapulohumeral muscular dystrophy families	Zatz, M.; Marie, S.K.; Passos-Bueno, M.R.; Vainzof, M.; Campiotto, S., et al
	1995	Variability in cholesterol content in serum and aortic tissue in apolipoprotein E-deficient mice is comparable in inbed (129/Sv) and outbred (mixed 129/Sv and C57BL/6) mice.	Ree, J.H.; Broek, W.J.A.A. van den; Dahlmans, V.E.H.; Wieringa, B.; Frants, R.R., et al
	1995	Molecular genetic reevaluation of the Dutch hyperekplexia family	Tijssen, M.A.J.; Shiang, R.; Deutekom, J.C.T. van; Boerman, R.H.; Wasmuth, J.J., et al
	1995	Inactivation of Apoe and Apoc1 by two consecutive rounds of gene targeting : effects on mRNA expression levels of gene cluster members	Ree, J.H. van; Broek, W.J.A.A. van den; Zee, A. van der; Dahlmans, V.E.H.; Wieringa, B., et al
	1995	Mutation in DHP receptor alpha1 subunit (CACLN1A3) gene in a Dutch family with hypokalaemic periodic paralysis	Boerman, R.H.; Ophoff, R.A.; Links, T.P.; Eijk, R. van; Sandkuijl, L.A., et al
	1995	Facioscapulohumeral muscular dystrophy in the Dutch population	Padberg, G.W.A.M.; Frants, R.R.; Brouwer, O.F.; Wijmenga, C.; Bakker, E., et al
	1995	On the significance of retinal vascular disease and hearing loss in facioscapulohumeral muscular dystrophy	Padberg, G.W.A.M.; Brouwer, O.F.; Keizer, R.J.W. de; Dijkman, G.A.; Wijmenga, C., et al
	1995	Inactivation of Apoe and Apoc1 by 2 Consecutive Rounds of Gene Targeting - Effects on Messenger-Rna Expression Levels of Gene-Cluster Members	Ree, J.H. van; Broek, W.J.J.A. van den; Zee, A. van der; Dahlmans, V.E.H.; Wieringa, B., et al
	1995	Increased Response to Cholesterol Feeding in Apolipoprotein C1-Deficient Mice	Ree, J.H. van; Hofker, M.H.; Broek, W.J.A.A. van den; Vandeursen, J.M.A.; Boom, H. van der, et al
	1995	Fish mapping of 250 cosmid and 26 YAC clones to chromosome 4 with special emphasis on the FSHD region at 4q35	Wijmenga, C.; Dauwerse, H.G.; Padberg, G.W.A.M.; Meyer, N.; Murray, J.C., et al