Works matching AU Frants, Rune R


Results: 86
    1

    Combined association and linkage analysis applied to the APOE locus.

    Published in:
    Genetic Epidemiology, 2004, v. 26, n. 4, p. 328, doi. 10.1002/gepi.10318
    By:
    • Marian Beekman;
    • Daniëlle Posthuma;
    • Bastiaan T. Heijmans;
    • Nico Lakenberg;
    • H. Eka D. Suchiman;
    • Harold Snieder;
    • Peter de Knijff;
    • Rune R. Frants;
    • Gert Jan B. van Ommen;
    • Cornelis Kluft;
    • George P. Vogler;
    • P. Eline Slagboom;
    • Dorret I. Boomsma
    Publication type:
    Article
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    Migraine genetics: an update.

    Published in:
    2005
    By:
    • Haan, J.;
    • Kors, E.;
    • Vanmolkot, Kaate;
    • Maagdenberg, Arn;
    • Frants, Rune;
    • Ferrari, M.;
    • Kors, E E;
    • Vanmolkot, Kaate R J;
    • van den Maagdenberg, Arn M J M;
    • Frants, Rune R;
    • Ferrari, M D
    Publication type:
    journal article
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    Recurrent ATP1A2 mutations in Portuguese families with familial hemiplegic migraine.

    Published in:
    Journal of Human Genetics, 2007, v. 52, n. 12, p. 990, doi. 10.1007/s10038-007-0205-7
    By:
    • Castro, Maria-José;
    • Stam, Anine H.;
    • Lemos, Carolina;
    • Barros, José;
    • Gouveia, Raquel G.;
    • Martins, Isabel Pavão;
    • Koenderink, Jan B.;
    • Vanmolkot, Kaate R. J.;
    • Mendes, Alexandre P.;
    • Frants, Rune R.;
    • Ferrari, Michel D.;
    • Sequeiros, Jorge;
    • Pereira-Monteiro, José M.;
    • van den Maagdenberg, Arn M. J. M.
    Publication type:
    Article
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    The expression of type III hyperlipoproteinemia: involvement of lipolysis genes.

    Published in:
    European Journal of Human Genetics, 2009, v. 17, n. 5, p. 620, doi. 10.1038/ejhg.2008.202
    By:
    • Henneman, Peter;
    • van der Sman-de Beer, Femke;
    • Moghaddam, Payman Hanifi;
    • Huijts, Petra;
    • Stalenhoef, Anton F. H.;
    • Kastelein, John J. P.;
    • van Duijn, Cornelia M.;
    • Havekes, Louis M.;
    • Frants, Rune R.;
    • van Dijk, Ko Willems;
    • Smelt, Augustinus H. M.
    Publication type:
    Article
    7

    Genome-wide linkage scan for atypical nevi in p16-Leiden melanoma families.

    Published in:
    European Journal of Human Genetics, 2008, v. 16, n. 9, p. 1135, doi. 10.1038/ejhg.2008.72
    By:
    • de Snoo, Femke A.;
    • Hottenga, Jouke-Jan;
    • Gillanders, Elizabeth M.;
    • Sandkuijl, Loudewijk A.;
    • Jones, Mary Pat;
    • Bergman, Wilma;
    • van der Drift, Clasine;
    • van Leeuwen, Inge;
    • van Mourik, Lenny;
    • Huurne, Jeanet A. C. ter;
    • Frants, Rune R.;
    • Willemze, Rein;
    • Breuning, Martijn H.;
    • Trent, Jeffrey M.;
    • Gruis, Nelleke A.
    Publication type:
    Article
    8

    Genome-wide linkage scan for atypical nevi in p16-Leiden melanoma families.

    Published in:
    2008
    By:
    • de Snoo, Femke A;
    • Hottenga, Jouke-Jan;
    • Gillanders, Elizabeth M;
    • Sandkuijl, Lodewijk A;
    • Jones, Mary Pat;
    • Bergman, Wilma;
    • van der Drift, Clasine;
    • van Leeuwen, Inge;
    • van Mourik, Leny;
    • Huurne, Jeanet A C ter;
    • Frants, Rune R;
    • Willemze, Rein;
    • Breuning, Martijn H;
    • Trent, Jeffrey M;
    • Gruis, Nelleke A
    Publication type:
    Correction Notice
    9

    First case of compound heterozygosity in Na,K-ATPase gene ATP1A2 in familial hemiplegic migraine.

    Published in:
    European Journal of Human Genetics, 2007, v. 15, n. 8, p. 884, doi. 10.1038/sj.ejhg.5201841
    By:
    • Vanmolkot, Kaate R. J.;
    • Stam, Anine H.;
    • Raman, Ashok;
    • Koenderink, Jan B.;
    • de Vries, Boukje;
    • van den Boogerd, Eelke H.;
    • van Vark, Judith;
    • van den Heuvel, Jeroen J. M. W.;
    • Bajaj, Nin;
    • Terwindt, Gisela M.;
    • Haan, Joost;
    • Frants, Rune R.;
    • Ferrari, Michel D.;
    • van den Maagdenberg, Arn M. J. M.
    Publication type:
    Article
    10

    Two de novo mutations in the Na,K-ATPase gene ATP1A2 associated with pure familial hemiplegic migraine.

    Published in:
    European Journal of Human Genetics, 2006, v. 14, n. 5, p. 555, doi. 10.1038/sj.ejhg.5201607
    By:
    • Vanmolkot, Kaate R J;
    • Kors, Esther E;
    • Turk, Ulku;
    • Turkdogan, Dylsad;
    • Keyser, Antoine;
    • Broos, Ludo A M;
    • Kia, Sima Kheradmand;
    • van den Heuvel, Jeroen J M W;
    • Black, David F;
    • Haan, Joost;
    • Frants, Rune R;
    • Barone, Virginia;
    • Ferrari, Michel D;
    • Casari, Giorgio;
    • Koenderink, Jan B;
    • van den Maagdenberg, Arn M J M
    Publication type:
    Article
    11
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    Evidence for a QTL on chromosome 19 influencing LDL cholesterol levels in the general population.

    Published in:
    European Journal of Human Genetics, 2003, v. 11, n. 11, p. 845, doi. 10.1038/sj.ejhg.5201053
    By:
    • Beekman, Marian;
    • Heijmans, Bastiaan T.;
    • Martin, Nicholas G.;
    • Whitfield, John B.;
    • Pedersen, Nancy L.;
    • DeFaire, Ulf;
    • Snieder, Harold;
    • Lakenberg, Nico;
    • Suchiman, H. Eka D.;
    • de Knijff, Peter;
    • Frants, Rune R.;
    • van Ommen, Gert Jan B;
    • Kluft, Cornelis;
    • Vogler, George P.;
    • Boomsma, Dorret I.;
    • Slagboom, P. Eline
    Publication type:
    Article
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    Subunits of the translation initiation factor eIF2B are mutant in leukoencephalopathy with vanishing white matter.

    Published in:
    Nature Genetics, 2001, v. 29, n. 4, p. 383, doi. 10.1038/ng764
    By:
    • Leegwater, Peter A.J.;
    • Vermeulen, Gerre;
    • Könst, Andrea A.M.;
    • Naidu, Sakkubai;
    • Mulders, Joyce;
    • Visser, Allerdien;
    • Kersbergen, Paula;
    • Mobach, Dragosh;
    • Fonds, Dafna;
    • van Berkel, Carola G.M.;
    • Lemmers, Richard J.L.F.;
    • Frants, Rune R.;
    • Oudejans, Cees B.M.;
    • Schutgens, Ruud B.H.;
    • Pronk, Jan C.;
    • van der Knaap, Marjo S.
    Publication type:
    Article
    17

    Intrinsic Epigenetic Regulation of the D4Z4 Macrosatellite Repeat in a Transgenic Mouse Model for FSHD.

    Published in:
    PLoS Genetics, 2013, v. 9, n. 4, p. 1, doi. 10.1371/journal.pgen.1003415
    By:
    • Krom., Yvonne D.;
    • Thijssen., Peter E.;
    • Young, Janet M.;
    • den Hamer, Bianca;
    • Balog, Judit;
    • Yao, Zizhen;
    • Maves, Lisa;
    • Snider, Lauren;
    • Knopp, Paul;
    • Zammit, Peter S.;
    • Rijkers, Tonnie;
    • van Engelen, Baziel G. M.;
    • Padberg, George W.;
    • Frants, Rune R.;
    • Tawil, Rabi;
    • Tapscott, Stephen J.;
    • van der Maarel, Silvère M.
    Publication type:
    Article
    18

    Specific Loss of Histone H3 Lysine 9 Trimethylation and HP1γ/Cohesin Binding at D4Z4 Repeats Is Associated with Facioscapulohumeral Dystrophy (FSHD).

    Published in:
    PLoS Genetics, 2009, v. 5, n. 7, p. 1, doi. 10.1371/journal.pgen.1000559
    By:
    • Weihua Zeng;
    • de Greef, Jessica C.;
    • Yen-Yun Chen;
    • Richard Chien;
    • Xiangduo Kong;
    • Gregson, Heather C.;
    • Winokur, Sara T.;
    • Pyle, April;
    • Robertson, Keith D.;
    • Schmiesing, John A.;
    • Kimonis, Virginia E.;
    • Balog, Judit;
    • Frants, Rune R.;
    • Ball Jr., Alexander R.;
    • Lock, Leslie F.;
    • Donovan, Peter J.;
    • Van der Maarel, Silvère M.;
    • Yokomori, Kyoko
    Publication type:
    Article
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    Localization of a gene for non-syndromic hearing loss (DFNA5) to chromosome 7p15.

    Published in:
    Human Molecular Genetics, 1995, v. 4, n. 11, p. 2159
    By:
    • Camp, Guy Van;
    • Coucke, Paul;
    • Balemans, Wendy;
    • Van Velzen, Désirée;
    • Van de Bilt, Caroline;
    • Van Laer, Lut;
    • Smith, Richard J.H.;
    • Fukushima, Kunihiro;
    • Padberg, George W.;
    • Frants, Rune R.;
    • Heyning, Paul Van de;
    • Smith, Shelley D.;
    • Huizing, Egbert H.;
    • Willems, Patrick J.
    Publication type:
    Article
    31
    32

    Linkage of a new locus for autosomal dominant familial spastic paraplegia to chromosome 2p.

    Published in:
    Human Molecular Genetics, 1994, v. 3, n. 9, p. 1569
    By:
    • Hazan, Jamilé;
    • Fontaine, Bertrand;
    • Bruyn, Richard P.M.;
    • Lamy, Catherine;
    • van Deutekom, Judith C.T.;
    • Rime, Clalre-Sophie;
    • Dürr, Alexandra;
    • Melkl, Judith;
    • Lyon-Caen, Olivier;
    • Agid, Yves;
    • Munnich, Arnold;
    • Padberg, George W.;
    • de Recondo, Jean;
    • Frants, Rune R.;
    • Brice, Alexis;
    • Welssenbach, Jean
    Publication type:
    Article
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    Migraine and MTHFR C677T genotype in a population‐based sample.

    Published in:
    Annals of Neurology, 2006, v. 59, n. 2, p. 372
    By:
    • Ann I. Scher;
    • Gisela M. Terwindt;
    • W. M. Monique Verschuren;
    • Mark C. Kruit;
    • Henk J. Blom;
    • Hisanori Kowa;
    • Rune R. Frants;
    • Arn M. J. M. van den Maagdenberg;
    • Mark van Buchem;
    • Michel D. Ferrari;
    • Lenore J. Launer
    Publication type:
    Article
    38
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    Somatic mosaicism in FSHD often goes undetected.

    Published in:
    Annals of Neurology, 2004, v. 55, n. 6, p. 845
    By:
    • Richard J. L. F. Lemmers;
    • Michiel J. R. van der Wielen;
    • Egbert Bakker;
    • George W. Padberg;
    • Rune R. Frants;
    • Silvère M. van der Maarel
    Publication type:
    Article
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    Delayed cerebral edema and fatal coma after minor head trauma: role of the CACNA1A calcium channel subunit gene and relationship with familial hemiplegic migraine.

    Published in:
    2001
    By:
    • Kors, Esther E.;
    • Terwindt, Gisela M.;
    • Vermeulen, Frans L.M.G.;
    • Fitzsimons, Robin B.;
    • Jardine, Philip E.;
    • Heywood, Peter;
    • Love, Seth;
    • Van Den Maagdenberg, Arn M.J.M.;
    • Haan, Joost;
    • Frants, Rune R.;
    • Ferrari, Michel D.;
    • Kors, E E;
    • Terwindt, G M;
    • Vermeulen, F L;
    • Fitzsimons, R B;
    • Jardine, P E;
    • Heywood, P;
    • Love, S;
    • van den Maagdenberg, A M;
    • Haan, J
    Publication type:
    journal article
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