Works by Frants, Rune R

Results: 86

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

Specific and efficient targeting of adenovirus vectors to macrophages: application of a fusion protein between an adenovirus-binding fragment and avidin, linked to a biotinylated oligonucleotide.

Published in:

Journal of Gene Medicine, 2006, v. 8, n. 6, p. 668, doi. 10.1002/jgm.895

By:

Emile Gras, J. C.;
Verkuijlen, Paul;
Frants, Rune R.;
Havekes, Louis M.;
van Berkel, Theo J. C.;
Biessen, Erik A. L.;
van Dijk, K. Willems

Publication type:

Article

Common epigenetic changes of D4Z4 in contraction-dependent and contraction-independent FSHD.

Published in:

Human Mutation, 2009, v. 30, n. 10, p. 1449, doi. 10.1002/humu.21091

By:

de Greef, Jessica C.;
Lemmers, Richard J.L.F.;
van Engelen, Baziel G.M.;
Sacconi, Sabrina;
Venance, Shannon L.;
Frants, Rune R.;
Tawil, Rabi;
van der Maarel, Silvère M.

Publication type:

Article

The novel p.L1649Q mutation in the SCN1A epilepsy gene is associated with familial hemiplegic migraine: genetic and functional studies.

Published in:

Human Mutation, 2007, v. 28, n. 5, p. 522, doi. 10.1002/humu.9486

By:

Vanmolkot, Kaate R.J.;
Babini, Elena;
de Vries, Boukje;
Stam, Anine H.;
Freilinger, Tobias;
Terwindt, Gisela M.;
Norris, Lisa;
Haan, Joost;
Frants, Rune R.;
Ramadan, Nabih M.;
Ferrari, Michel D.;
Pusch, Michael;
van den Maagdenberg, Arn M.J.M.;
Dichgans, Martin

Publication type:

Article

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

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

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

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

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

Protein studies in dysferlinopathy patients using llama-derived antibody fragments selected by phage display.

Published in:

European Journal of Human Genetics, 2005, v. 13, n. 6, p. 721, doi. 10.1038/sj.ejhg.5201414

By:

Huang, Yanchao;
Verheesen, Peter;
Roussis, Andreas;
Frankhuizen, Wendy;
Ginjaar, Ieke;
Haldane, Faye;
Laval, Steve;
Anderson, Louise V B;
Verrips, Theo;
Frants, Rune R;
de Haard, Hans;
Bushby, Kate;
den Dunnen, Johan;
x00E8;re M#van der Maarel, Silv&

Publication type:

Article

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

Hypomethylation of D4Z4 in 4q-linked and non-4q-linked facioscapulohumeral muscular dystrophy.

Published in:

Nature Genetics, 2003, v. 35, n. 4, p. 315, doi. 10.1038/ng1262

By:

Enthoven, Leo;
Bakels, Floor;
Winokur, Sara T.;
Padberg, George W.;
Frants, Rune R.;
van Overveld, Petra G. M.;
Lemmers, Richard J. F. L.;
van Ommen, Gert-Jan B.;
van der Maarel, Silvère M.;
Sandkuijl, Lodewijk A.

Publication type:

Article

Facioscapulohumeral muscular dystrophy is uniquely associated with one of the two variants of the 4q subtelomere.

Published in:

Nature Genetics, 2002, v. 32, n. 2, p. 235, doi. 10.1038/ng999

By:

Lemmers, Richard J.L.F.;
de Kievit, Peggy;
Sandkuijl, Lodewijk;
Padberg, George W.;
van Ommen, Gert-Jan B.;
Frants, Rune R.;
van der Maarel, Silvère M.

Publication type:

Article

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

Major and minor form of hereditary hyperekplexia.

Published in:

Movement Disorders, 2002, v. 17, n. 4, p. 826, doi. 10.1002/mds.10168

By:

Tijssen, Marina A.J.;
Vergouwe, Monique N.;
van Dijk, J. Gert;
Rees, Michelle;
Frants, Rune R.;
Brown, Peter

Publication type:

Article

ABH secretion polymorphism in Icelanders, Åland Islanders, Finns, Finnish Lapps, Komi and Greenland Eskimos: a review and new data.

Published in:

Annals of Human Biology, 1986, v. 13, n. 3, p. 273, doi. 10.1080/03014468600008451

By:

Eriksson, Aldur W.;
Partanen, Kirsti;
Frants, Rune R.;
Pronk, Jan C.;
Kostense, Pieter J.

Publication type:

Article

Proteomic Analysis of the Dysferlin Protein Complex Unveils Its Importance for Sarcolemmal Maintenance and Integrity.

Published in:

PLoS ONE, 2010, v. 5, n. 11, p. 1, doi. 10.1371/journal.pone.0013854

By:

de Morrée, Antoine;
Hensbergen, Paul J.;
van Haagen, Herman H. H. B. M.;
Dragan, Irina;
Deelder, André M.;
't Hoen, Peter A. C.;
Frants, Rune R.;
van der Maarel, Silvère M.

Publication type:

Article

Calpain 3 Is a Rapid-Action, Unidirectional Proteolytic Switch Central to Muscle Remodeling.

Published in:

PLoS ONE, 2010, v. 5, n. 8, p. 1, doi. 10.1371/journal.pone.0011940

By:

Morrée, Antoine de;
Hulsik, David Lutje;
Impagliazzo, Antonietta;
van Haagen, Herman H. H. B. M.;
Galan, Paula de;
van Remoortere, Alexandra;
Hoen, Peter A. C.;
van Ommen, GertJan B.;
Frants, Rune R.;
van der Maarel, Silvère M.

Publication type:

Article

Current PTCA practice and clinical outcomes in The Netherlands: the real world in the pre-drug-eluting stent era.

Published in:

European Heart Journal, 2004, v. 25, n. 13, p. 1163, doi. 10.1016/j.ehj.2004.05.006

By:

Agema, Willem R.P;
Monraats, Pascalle S;
Zwinderman, Aeilko H;
de Winter, Robbert J;
Tio, René A;
Doevendans, Pieter A.F.M;
Waltenberger, Johannes;
de Maat, Moniek P.M;
Frants, Rune R;
Atsma, Douwe E;
van der Laarse, Arnoud;
van der Wall, Ernst E;
Jukema, J.Wouter

Publication type:

Article

Inhibition of neointima formation by local delivery of estrogen receptor alpha and beta specific agonists

Published in:

Cardiovascular Research, 2007, v. 73, n. 1, p. 217, doi. 10.1016/j.cardiores.2006.10.024

By:

Krom, Yvonne D.;
Pires, Nuno M.M.;
Jukema, J. Wouter;
de Vries, Margreet R.;
Frants, Rune R.;
Havekes, Louis M.;
van Dijk, Ko Willems;
Quax, Paul H.A.

Publication type:

Article

Search for the FSHD gene using cDNA selection in a region spanning 100 kb on chromosome 4q35.

Published in:

Muscle & Nerve, 1995, v. 18, n. S13, p. S19, doi. 10.1002/mus.880181306

By:

van Deutekom, Judith C. T.;
Hofker, Marten H.;
Romberg, Silke;
van Geel, Michel;
Rommens, Johanna;
Wright, Tracy J.;
Hewitt, Jane E.;
Padberg, George W.;
Wijmenga, Cisca;
Frants, Rune R.

Publication type:

Article

Early onset facioscapulohumeral muscular dystrophy.

Published in:

Muscle & Nerve, 1995, v. 18, n. S13, p. S67, doi. 10.1002/mus.880181313

By:

Brouwer, Oebele F.;
Padberg, George W.;
Bakker, Egbert;
Wijmenga, Cisca;
Frants, Rune R.

Publication type:

Article

Fish mapping of 250 cosmid and 26 YAC clones to chromosome 4 with special emphasis on the FSHD region at 4q35.

Published in:

Muscle & Nerve, 1995, v. 18, n. S13, p. S14, doi. 10.1002/mus.880181305

By:

Wijmenga, Cisca;
Dauwerse, Hans G.;
Padberg, George W.;
Meyer, Nicolle;
Murray, Jeffrey C.;
Mills, Kate;
van Ommen, Gertjan B.;
Hofker, Marten H.;
Frants, Rune R.

Publication type:

Article

The FSHD-linked locus D4F104S1 (p13E-11) ON 4q35 has a homologue on 10qter.

Published in:

Muscle & Nerve, 1995, v. 18, n. S13, p. S39, doi. 10.1002/mus.880181309

By:

Bakker, Egbert;
Wijmenga, Cisca;
Vossen, Rolf H. A. M.;
Padberg, George W.;
Hewitt, Jane;
van Der Wielen, Michiel;
Rasmussen, Kirsten;
Frants, Rune R.

Publication type:

Article

Self-regulated alternative splicing at the AHNAK locus.

Published in:

FASEB Journal, 2012, v. 26, n. 1, p. 93, doi. 10.1096/fj.11-187971

By:

de Morrée, Antoine;
Droog, Marjolein;
Moursel, Laure Grand;
Bisschop, Ilona J. M.;
Impagliazzo, Antonietta;
Frants, Rune R.;
Klooster, Rinse;
van der Maarel, Silvère M.

Publication type:

Article

AHNAK, a novel component of the dysferlin protein complex, redistributes to the cytoplasm with dysferlin during skeletal muscle regeneration.

Published in:

FASEB Journal, 2007, v. 21, n. 3, p. 732, doi. 10.1096/fj.06-6628com

By:

Yanchao Huang;
Laval, Steven H.;
Van Remoortere, Alexandra;
Baudier, Jacques;
Benaud, Chriselle;
Anderson, Louise V. B.;
Straub, Volker;
Deelder, Andre;
Frants, Rune R.;
Den Dunnen, Johan T.;
Bushby, Kate;
Van Der Maarel, Silvère M.

Publication type:

Article

Tumor necrosis factor-α plays an important role in restenosis development.

Published in:

FASEB Journal, 2005, v. 19, n. 14, p. 1998, doi. 10.1096/fj.05-4634com

By:

Monraats, Pascalle S.;
Pires, Nuno M. M.;
Schepers, Abbey;
Agema, Willem R. P.;
Boesten, Lianne S. M.;
De Vries, Margreet R.;
Zwinderman, Aeilko H.;
De Maat, Moniek P. M.;
Doevendans, Pieter A. F. M.;
De Winter, Robbert J.;
Tio, René A.;
Waltenberger, Johannes;
'T Hart, Leen M.;
Frants, Rune R.;
Quax, Paul H. A.;
Van Vlijmen, Bart J. M.;
Havekes, Louis M.;
Van Der Laarse, Arnoud;
Van Der Wall, Ernst E.;
Jukema, J. Wouter

Publication type:

Article

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

5-HT1B Receptor Polymorphism and Clinical Response to Sumatriptan.

Published in:

Headache: The Journal of Head & Face Pain, 1998, v. 38, n. 4, p. 288, doi. 10.1046/j.1526-4610.1998.3804288.x

By:

MaassenVanDenBrink, Antoinette;
Vergouwe, Monique N.;
Ophoff, Roel A.;
Saxena, Pramod R.;
Ferrari, Michel D.;
Frants, Rune R.

Publication type:

Article

Involvement of a Ca 2+ Channel Gene in Familial Hemiplegic Migraine and Migraine With and Without Aura.

Published in:

Headache: The Journal of Head & Face Pain, 1997, v. 37, n. 8, p. 479, doi. 10.1046/j.1526-4610.1997.3708479.x

By:

Ophoff, Roel A.;
Terwindt, Gisela M.;
Vergouwe, Monique N.;
Frants, Rune R.;
Ferrari, Michel D.

Publication type:

Article

Molecular genetics of migraine.

Published in:

Human Genetics, 2009, v. 126, n. 1, p. 115, doi. 10.1007/s00439-009-0684-z

By:

de Vries, Boukje;
Frants, Rune R.;
Ferrari, Michel D.;
van den Maagdenberg, Arn M. J. M.

Publication type:

Article

Equal proportions of affected cells in muscle and blood of a mosaic carrier of facioscapulohumeral muscular dystrophy.

Published in:

Human Genetics, 2006, v. 119, n. 1/2, p. 23, doi. 10.1007/s00439-005-0100-2

By:

Tonini, Maria Manuela O.;
Lemmers, Richard J. L. F.;
Pavanello, Rita C. M.;
Cerqueira, Antonia M. P.;
Frants, Rune R.;
van der Maarel, Silvere M.;
Zatz, Mayana

Publication type:

Article

Genetic confirmation of facioscapulohumeral muscular dystrophy in a case with complex D4Z4 rearrangments.

Published in:

Human Genetics, 2005, v. 116, n. 4, p. 262, doi. 10.1007/s00439-004-1237-0

By:

Buzhov, Borian T.;
Lemmers, Richard J. L. F.;
Tournev, Ivailo;
Dikova, Chayka;
Kremensky, Ivo;
Petrova, Julia;
Frants, Rune R.;
van derMaarel, Silvère M.

Publication type:

Article

Interchromosomal repeat array interactions between chromosomes 4 and 10: a model for subtelomeric plasticity.

Published in:

Human Molecular Genetics, 2000, v. 9, n. 19, p. 2879, doi. 10.1093/hmg/9.19.2879

By:

Overveld, Petra G.M. van;
Lemmers, Richard J.F.L.;
Deidda, Giancarlo;
Sandkuijl, Lodewijk;
Padberg, George W.;
Frants, Rune R.;
van der Maarel, Silvère M.

Publication type:

Article

Inter- and intrachromosomal sub-telomeric rearrangements on 4q35: implications for facioscapulohumeral muscular dystrophy (FSHD) aetiology and diagnosis.

Published in:

Human Molecular Genetics, 1998, v. 7, n. 8, p. 1207, doi. 10.1093/hmg/7.8.1207

By:

Lemmers, Richard J. L. F.;
van der Maarel, Silvère M.;
van Deutekom, Judith C. T.;
van der Wielen, Michiel J. R.;
Deidda, Giancarlo;
Dauwerse, Hans G.;
Hewitt, Jane;
Hofker, Marten;
Bakker, Egbert;
Padberg, George W.;
Frants, Rune R.

Publication type:

Article

Episodic Ataxia Type 2 (EA2) and Spinocerebellar Ataxia Type 6 (SCA6) Due to CAG Repeat Expansion in the CACNA1A Gene on Chromosome 19p.

Published in:

Human Molecular Genetics, 1997, v. 6, n. 11, p. 1973, doi. 10.1093/hmg/6.11.1973

By:

Jodice, Carla;
Mantuano, Elide;
Veneziano, Liana;
Trettel, Flavia;
Sabbadini, Guglielmo;
Calandriello, Luigi;
Francia, Ada;
Spadaro, Maria;
Pierelli, Francesco;
Salvi, Fabrizio;
Ophoff, Roel A.;
Frants, Rune R.;
Frontali, Marina

Publication type:

Article

Evidence for Subtelomeric Exchange of 3.3 kb Tandemly Repeated Units between Chromosomes 4q35 and 10q26: Implications for Genetic Counselling and Etiology of FSHD1.

Published in:

Human Molecular Genetics, 1996, v. 5, n. 12, p. 1997, doi. 10.1093/hmg/5.12.1997

By:

van Deutekom, Judith C. T.;
Bakker, Egbert;
Lemmers, Richard J. L. F.;
van der Wielen, Michiel J. R.;
Bik, Elsa;
Hofker, Marten H.;
Padberg, George W.;
Frants, Rune R.

Publication type:

Article

Localization of a Gene for Möbius Syndrome to Chromosome 3q by Linkage Analysis in a Dutch Family.

Published in:

Human Molecular Genetics, 1996, v. 5, n. 9, p. 1367, doi. 10.1093/hmg/5.9.1367

By:

Kremer, Hannie;
Kuyt, Lambertus P.;
van den Helm, Bellinda;
van Reen, Margo;
Leunissen, Jack A. M.;
Hamel, Ben C. J.;
Jansen, Cees;
Mariman, Edwin C. M.;
Frants, Rune R.;
Padberg, George W.

Publication type:

Article

Identification of the First Gene (FRG1) from the FSHD Region on Human Chromosome 4q35.

Published in:

Human Molecular Genetics, 1996, v. 5, n. 5, p. 581, doi. 10.1093/hmg/5.5.581

By:

van Deutekom, Judith C. T.;
Lemmers, Richard J. L. F.;
Grewal, Prabhjit K.;
van Geel, Michel;
Romberg, Silke;
Dauwerse, Hans G.;
Wright, Tracy J.;
Padberg, George W.;
Hofker, Marten H.;
Hewitt, Jane E.;
Frants, Rune R.

Publication type:

Article

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

Inactivation of Apoe and Apoc1 by two consecutive rounds of gene targeting: effects on mRNA expression levels of gene cluster members.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 8, p. 1403

By:

van Ree, Janine H.;
van den Broek, Walther J.J.A.;
van der Zee, André;
Dahlmans, Vivian E.H.;
Wieringa, Bé;
Frants, Rune R.;
Havekes, Louis M.;
Hofker, Marten H.

Publication type:

Article

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

Analysis of the tandem repeat locus D4Z4 associated with facioscapulohumeral muscular dystropothhy.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 8, p. 1287

By:

Hewitt, Jane E.;
Lyle, Robert;
Clark, Lorraine N.;
Valleley, Elizabeth M.;
Wright, Tracy J.;
Wijmenga, Cisca;
van Deutekom, Judith C.T.;
Francis, Fiona;
Sharpe, Paul T.;
Hofker, Marten;
Frants, Rune R.;
Williamson, Robert

Publication type:

Article

Fine mapping of the FSHD gene region orientates the rearranged fragment detected by the probe p13E-11.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 10, p. 1673

By:

Wright, Tracy J.;
Wijmenga, Cisca;
Clark, Lorraine N.;
Frants, Rune R.;
Williamson, Robert;
Hewitt, Jane E.

Publication type:

Article

Physical mapping and YAC-cloning connects four genetically distinct 4qter loci (D4S163, D4S139, D4F35S1 and D4F104S1) in the FSHD gene-region.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 10, p. 1667

By:

Wijmenga, Cisca;
Wright, Tracy J.;
Baan, Mark J;
Padberg, George W.;
Williamson, Robert;
van Ommen, Gert-Jan B.;
Hewitt, Jane;
Hofker, Marten H.;
Frants, Rune R.

Publication type:

Article

No evidence of genetic heterogeneity in Brazilian facioscapulohumeral muscular dystrophy familes (FSHD) with 4q markers.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 5, p. 557

By:

Passos-Bueno, M.Rita;
Wijmenga, Cisca;
Takata, Reinaldo E.;
Marie, Sueli K.N.;
Vainzof, Mariz;
Pavanello, Rita C.;
Hewitt, Jane E.;
Bakker, Egbert;
Carvalho, Alzira;
Akiyama, Jane;
Frants, Rune R.;
Zatz, Mayana

Publication type:

Article

Genetics of Seven Dutch Familial Atypcial Multiple Mole-Menaloma Syndrome Families: A Review of Linkage Results Including Chromosomes 1 and 9.

Published in:

Journal of Investigative Dermatology, 1994, v. 103, p. 122S, doi. 10.1038/jid.1994.22

By:

Bergman, Wilma;
Gruis, Nelleke A.;
Sandkuijl, Lodewijk A.;
Frants, Rune R.

Publication type:

Article

Genetic Linkage Between the Collagen VII (COL7A1) Gene and the Autosomal Dominant Form of Dystrophic Epidermolysis Bullosa in Two Dutch Kindreds.

Published in:

Journal of Investigative Dermatology, 1992, v. 99, n. 5, p. 528, doi. 10.1111/1523-1747.ep12658066

By:

Gruis, Nelleke A.;
Bavinck, Jan N. Bouwes;
Steijlen, Peter M.;
Van Der Schroeff, Jan G.;
Van Haeringen, Arie;
Happle, Rudolf;
Mariman, Edwin;
Van Beersum, Sylvia E. C.;
Uitto, Jouni;
Vermeer, Bert J.;
Frants, Rune R.

Publication type:

Article

Familial Dysbetalipoproteinemia: A Genetically Heterogeneous Disease Caused by Mutations of the Ligand Apolipoprotein E.

Published in:

Journal of Investigative Dermatology, 1992, v. 98, n. 6, p. 57S, doi. 10.1111/1523-1747.ep12462212

By:

Vermeer, Bert Jan;
Frants, Rune R.;
Havekes, Louis M.

Publication type:

Article

High cortical spreading depression susceptibility and migraine-associated symptoms in Cav2.1 S218L mice.

Published in:

Annals of Neurology, 2010, v. 67, n. 1, p. 85, doi. 10.1002/ana.21815

By:

van den Maagdenberg, Arn M. J. M.;
Pizzorusso, Tommaso;
Kaja, Simon;
Terpolilli, Nicole;
Shapovalova, Maryna;
Hoebeek, Freek E.;
Barrett, Curtis F.;
Gherardini, Lisa;
van de Ven, Rob C. G.;
Todorov, Boyan;
Broos, Ludo A. M.;
Tottene, Angelita;
Gao, Zhenyu;
Fodor, Mariann;
De Zeeuw, Chris I.;
Frants, Rune R.;
Plesnila, Nikolaus;
Plomp, Jaap J.;
Pietrobon, Daniela;
Ferrari, Michel D.

Publication type:

Article