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, Frants, R.R, Goulon, V, Goldstein, A.M, Reen, M.M.M van, Eastern, D.F, Eeles, R.A, Hodgson, S, Mulvihill, J.J, Murday, V.A, Tucker, M.A, Mariman, E.C.M, Starink, T.M, Ponder, B.A.J, Ropers, H.H, Kremer, H, Longy, M, Eng, C
Published in Nature genetics (01.05.1996)
Published in Nature genetics (01.05.1996)
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Chromosome 4 localization of a second gene for autosomal dominant polycystic kidney disease
Peters, D.J.M, Spruit, L, Saris, J.J, Ravine, D, Sandkuijl, L.A, Fossdal, R, Boersma, J, van Eijk, R, Nørby, S, Constantinou-Deltas, C.D, Pierides, A, Briessenden, J.E, Frants, R.R, van Ommen, G.-J.B, Breuning, M.H
Published in Nature genetics (01.12.1993)
Published in Nature genetics (01.12.1993)
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O.19 Facioscapulohumeral muscular dystrophy: Muscle running out of control
Lemmers, R.J.L, van der Vliet, P.J, Sacconi, S, Camano, P, Snider, L, Geng, L, van Ommen, G.J, Padberg, G.W, Miller, D.G, Tapscott, S.J, Frants, R.R, van der Maarel, S.M
Published in Neuromuscular disorders : NMD (01.10.2011)
Published in Neuromuscular disorders : NMD (01.10.2011)
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G.O.2 A primary sequence motif underlying calpain 3 substrate cleavage
de Morrée, A, Hulsik, D. Lutje, Impagliazzo, A, van Haagen, H.H.B, de Galan, P, van Remoortere, A, t Hoen, P.A.C, Frants, R.R, van der Maarel, S.M
Published in Neuromuscular disorders : NMD (01.09.2009)
Published in Neuromuscular disorders : NMD (01.09.2009)
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Transgenic mice carrying the apolipoprotein E3-Leiden gene exhibit hyperlipoproteinemia
van den Maagdenberg, A.M., Hofker, M.H., Krimpenfort, P.J., de Bruijn, I., van Vlijmen, B., van der Boom, H., Havekes, L.M., Frants, R.R.
Published in The Journal of biological chemistry (15.05.1993)
Published in The Journal of biological chemistry (15.05.1993)
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Location of facioscapulohumeral muscular dystrophy gene on chromosome 4
Wijmenga, C, Frants, R R, Brouwer, O F, Moerer, P, Weber, J L, Padberg, G W
Published in The Lancet (British edition) (15.09.1990)
Published in The Lancet (British edition) (15.09.1990)
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Mapping the facioscapulohumeral muscular dystrophy gene is complicated by chromosome 4q35 recombination events
Weiffenbach, B, Dubois, J, Storvick, D, Tawil, R, Jacobsen, S.J, Gilbert, J, Wijmenga, C, Mendell, J.R, Winokur, S, Altherr, M.R, Schultz, P, Olandt, S, Frants, R.R, Pericak-Vance, M, Griggs, R.C
Published in Nature genetics (01.06.1993)
Published in Nature genetics (01.06.1993)
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Clinical features of facioscapulohumeral muscular dystrophy 2
de Greef, J C, Lemmers, R J L F, Camaño, P, Day, J W, Sacconi, S, Dunand, M, van Engelen, B G M, Kiuru-Enari, S, Padberg, G W, Rosa, A L, Desnuelle, C, Spuler, S, Tarnopolsky, M, Venance, S L, Frants, R R, van der Maarel, S M, Tawil, R
Published in Neurology (26.10.2010)
Published in Neurology (26.10.2010)
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Risk of developing pancreatic cancer in families with familial atypical multiple mole melanoma associated with a specific 19 deletion of p16 (p16‐Leiden)
Vasen, H.F.A., Gruis, N.A., Frants, R.R., van der Velden, P.A., Hille, E.T.M., Bergman, W.
Published in International journal of cancer (15.09.2000)
Published in International journal of cancer (15.09.2000)
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The Cholesterol-Raising Factor from Coffee Beans, Cafestol, as an Agonist Ligand for the Farnesoid and Pregnane X Receptors
Ricketts, Marie-Louise, Boekschoten, Mark V, Kreeft, Arja J, Hooiveld, Guido J. E. J, Moen, Corina J. A, Müller, Michael, Frants, Rune R, Kasanmoentalib, Soemini, Post, Sabine M, Princen, Hans M. G, Porter, J. Gordon, Katan, Martijn B, Hofker, Marten H, Moore, David D
Published in Molecular endocrinology (Baltimore, Md.) (01.07.2007)
Published in Molecular endocrinology (Baltimore, Md.) (01.07.2007)
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The Mouse Low-Density Lipoprotein Receptor Gene: cDNA Sequence and Exon-Intron Structure
Hoffer, M.J.V., Vaneck, M.M., Petrij, F., Vanderzee, A., Dewit, E., Meijer, D., Grosveld, G., Havekes, L.M., Hofker, M.H., Frants, R.R.
Published in Biochemical and biophysical research communications (31.03.1993)
Published in Biochemical and biophysical research communications (31.03.1993)
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Effect of oral omeprazole on serum gastrin and serum pepsinogen I levels
Festen, H P, Thijs, J C, Lamers, C B, Jansen, J M, Pals, G, Frants, R R, Défize, J, Meuwissen, S G
Published in Gastroenterology (New York, N.Y. 1943) (01.11.1984)
Published in Gastroenterology (New York, N.Y. 1943) (01.11.1984)
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Nucleotide sequence of the partially deleted D4Z4 locus in a patient with FSHD identifies a putative gene within each 3.3 kb element
Gabriëls, J, Beckers, M.-C, Ding, H, De Vriese, A, Plaisance, S, van der Maarel, S.M, Padberg, G.W, Frants, R.R, Hewitt, J.E, Collen, D, Belayew, A
Published in Gene (05.08.1999)
Published in Gene (05.08.1999)
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Childhood epilepsy, familial hemiplegic migraine, cerebellar ataxia, and a new CACNA1A mutation
Kors, E E, Melberg, A, Vanmolkot, K R J, Kumlien, E, Haan, J, Raininko, R, Flink, R, Ginjaar, H B, Frants, R R, Ferrari, M D, van den Maagdenberg, A M J M
Published in Neurology (28.09.2004)
Published in Neurology (28.09.2004)
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Involvement of the CACNA1A gene containing region on 19p13 in migraine with and without aura
Terwindt, G M, Ophoff, R A, van Eijk, R, Vergouwe, M N, Haan, J, Frants, R R, Sandkuijl, L A, Ferrari, M D
Published in Neurology (24.04.2001)
Published in Neurology (24.04.2001)
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G.O.3 Contraction-dependent (FSHD1) and independent (FSHD2) epigenetic changes of D4Z4 unify FSHD
de Greef, J.C., Lemmers, R.J.L., van Engelen, B.G.M., Sacconi, S., Venance, S.L., Frants, R.R., Tawil, R., van der Maarel, S.M.
Published in Neuromuscular disorders : NMD (01.09.2009)
Published in Neuromuscular disorders : NMD (01.09.2009)
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Characterization of acetylcholine release and the compensatory contribution of non-Cav2.1 channels at motor nerve terminals of leaner Cav2.1-mutant mice
KAJA, S, VAN DE VEN, R. C. G, BROCS, L. A. M, FRANTS, R. R, FERRARI, M. D, VAN DEN MAAGDENBERG, A. M. J. M, PLOMP, J. J
Published in Neuroscience (23.02.2007)
Published in Neuroscience (23.02.2007)
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Characterization of acetylcholine release and the compensatory contribution of non-Ca v2.1 channels at motor nerve terminals of leaner Ca v2.1-mutant mice
Kaja, S., van de Ven, R.C.G., Broos, L.A.M., Frants, R.R., Ferrari, M.D., van den Maagdenberg, A.M.J.M., Plomp, J.J.
Published in Neuroscience (2007)
Published in Neuroscience (2007)
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Gene dosage-dependent transmitter release changes at neuromuscular synapses of Cacna1a R192Q knockin mice are non-progressive and do not lead to morphological changes or muscle weakness
Kaja, S., van de Ven, R.C.G., Broos, L.A.M., Veldman, H., van Dijk, J.G., Verschuuren, J.J.G.M., Frants, R.R., Ferrari, M.D., van den Maagdenberg, A.M.J.M., Plomp, J.J.
Published in Neuroscience (2005)
Published in Neuroscience (2005)
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