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Rune Frants

This is a preview profile on BiomedExperts - the first literature-based scientific social network. It brings the right researchers together and allows them to collaborate online. Collexis and Dell provide the BiomedExperts network of +1.5 Million pre-calculated profiles free of charge to researchers worldwide.

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Publications

TOP 3
de Vries Boukje; Stam Anine H; Kirkpatrick Martin; Vanmolkot Kaate R J; Koenderink Jan B; van den Heuvel Jeroen J M W; Stunnenberg Bas; Goudie David; Shetty Jay; Jain Vivek; van Vark Judith; Terwindt Gisela M; Frants Rune R; Haan Joost; van den Maagdenberg Arn M J M; Ferrari Michel D
Familial hemiplegic migraine is associated with febrile seizures in an FHM2 family with a novel de novo ATP1A2 mutation.
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
Common epigenetic changes of D4Z4 in contraction-dependent and contraction-independent FSHD.
Stam A H; Luijckx G-J; Poll-Thé B T; Ginjaar I B; Frants R R; Haan J; Ferrari M D; Terwindt G M; van den Maagdenberg A M J M
Early seizures and cerebral oedema after trivial head trauma associated with the CACNA1A S218L mutation.

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All Publications

2009: de Vries Boukje; Stam Anine H; Kirkpatrick Martin; Vanmolkot Kaate R J; Koenderink Jan B; van den Heuvel Jeroen J M W; Stunnenberg Bas; Goudie David; Shetty Jay; Jain Vivek; van Vark Judith; Terwindt Gisela M; Frants Rune R; Haan Joost; van den Maagdenberg Arn M J M; Ferrari Michel D
Familial hemiplegic migraine is associated with febrile seizures in an FHM2 family with a novel de novo ATP1A2 mutation.
Epilepsia 2009;50(11):2503-4.
2009: 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
Common epigenetic changes of D4Z4 in contraction-dependent and contraction-independent FSHD.
Human mutation 2009;30(10):1449-59.
2009: Stam A H; Luijckx G-J; Poll-Thé B T; Ginjaar I B; Frants R R; Haan J; Ferrari M D; Terwindt G M; van den Maagdenberg A M J M
Early seizures and cerebral oedema after trivial head trauma associated with the CACNA1A S218L mutation.
Journal of neurology, neurosurgery, and psychiatry 2009;80(10):1125-9.
2009: Zeng Weihua; de Greef Jessica C; Chen Yen-Yun; Chien Richard; Kong Xiangduo; Gregson Heather C; Winokur Sara T; Pyle April; Robertson Keith D; Schmiesing John A; Kimonis Virginia E; Balog Judit; Frants Rune R; Ball Alexander R; Lock Leslie F; Donovan Peter J; van der Maarel Silvère M; Yokomori Kyoko
Specific loss of histone H3 lysine 9 trimethylation and HP1gamma/cohesin binding at D4Z4 repeats is associated with facioscapulohumeral dystrophy (FSHD).
PLoS genetics 2009;5(7):e1000559.
2009: de Vries Boukje; Frants Rune R; Ferrari Michel D; van den Maagdenberg Arn M J M
Molecular genetics of migraine.
Human genetics 2009;126(1):115-32.
2009: 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
The expression of type III hyperlipoproteinemia: involvement of lipolysis genes.
European journal of human genetics : EJHG 2009;17(5):620-8.
2009: Castro M-J; Stam A H; Lemos C; de Vries B; Vanmolkot K R J; Barros J; Terwindt G M; Frants R R; Sequeiros J; Ferrari M D; Pereira-Monteiro J M; van den Maagdenberg A M J M
First mutation in the voltage-gated Nav1.1 subunit gene SCN1A with co-occurring familial hemiplegic migraine and epilepsy.
Cephalalgia : an international journal of headache 2009;29(3):308-13.
2009: de Vries Boukje; Mamsa Hafsa; Stam Anine H; Wan Jijun; Bakker Stef L M; Vanmolkot Kaate R J; Haan Joost; Terwindt Gisela M; Boon Elles M J; Howard Bruce D; Frants Rune R; Baloh Robert W; Ferrari Michel D; Jen Joanna C; van den Maagdenberg Arn M J M
Episodic ataxia associated with EAAT1 mutation C186S affecting glutamate reuptake.
Archives of neurology 2009;66(1):97-101.
2008: de Greef Jessica C; Frants Rune R; van der Maarel Silvère M
Epigenetic mechanisms of facioscapulohumeral muscular dystrophy.
Mutation research 2008;647(1-2):94-102.
2008: de Snoo Femke A; Bishop D Timothy; Bergman Wilma; van Leeuwen Inge; van der Drift Clasine; van Nieuwpoort Frans A; Out-Luiting Coby J; Vasen Hans F; ter Huurne Jeanet A C; Frants Rune R; Willemze Rein; Breuning Martijn H; Gruis Nelleke A
Increased risk of cancer other than melanoma in CDKN2A founder mutation (p16-Leiden)-positive melanoma families.
Clinical cancer research : an official journal of the American Association for Cancer Research 2008;14(21):7151-7.
2008: Graves Tracey D; Imbrici Paola; Kors Esther E; Terwindt Gisela M; Eunson Louise H; Frants Rune R; Haan Joost; Ferrari Michel D; Goadsby Peter J; Hanna Michael G; van den Maagdenberg Arn M J M; Kullmann Dimitri M
Premature stop codons in a facilitating EF-hand splice variant of CaV2.1 cause episodic ataxia type 2.
Neurobiology of disease 2008;32(1):10-5.
2008: Henneman P; Aulchenko Y S; Frants R R; van Dijk K W; Oostra B A; van Duijn C M
Prevalence and heritability of the metabolic syndrome and its individual components in a Dutch isolate: the Erasmus Rucphen Family study.
Journal of medical genetics 2008;45(9):572-7.
2008: 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
Genome-wide linkage scan for atypical nevi in p16-Leiden melanoma families.
European journal of human genetics : EJHG 2008;16(9):1135-41.
2008: Fregonese Laura; Stolk Jan; Frants Rune R; Veldhuisen Barbera
Alpha-1 antitrypsin Null mutations and severity of emphysema.
Respiratory medicine 2008;102(6):876-84.
2008: Huang Yanchao; de Morrée Antoine; van Remoortere Alexandra; Bushby Kate; Frants Rune R; Dunnen Johan Tden; van der Maarel Silvère M
Calpain 3 is a modulator of the dysferlin protein complex in skeletal muscle.
Human molecular genetics 2008;17(12):1855-66.
2008: Kaja Simon; Van De Ven Rob C G; Frants Rune R; Ferrari Michel D; Van Den Maagdenberg Arn M J M; Plomp Jaap J
Reduced ACh release at neuromuscular synapses of heterozygous leaner Ca(v)2.1-mutant mice.
Synapse (New York, N.Y.) 2008;62(5):337-44.
2008: Castro M-J; Nunes B; de Vries B; Lemos C; Vanmolkot K R J; van den Heuvel J J M W; Temudo T; Barros J; Sequeiros J; Frants R R; Koenderink J B; Pereira-Monteiro J M; van den Maagdenberg A M J M
Two novel functional mutations in the Na+,K+-ATPase alpha2-subunit ATP1A2 gene in patients with familial hemiplegic migraine and associated neurological phenotypes.
Clinical genetics 2008;73(1):37-43.
2008: Barrett Curtis F; van den Maagdenberg Arn M J M; Frants Rune R; Ferrari Michel D
Familial hemiplegic migraine.
Advances in genetics 2008;63():57-83.
2007: Pons Douwe; Monraats Pascalle S; de Maat Moniek P M; Pires Nuno M M; Quax Paul H A; van Vlijmen Bart J M; Rosendaal Frits R; Zwinderman Aeilko H; Doevendans Pieter A F M; Waltenberger Johannes; de Winter Robbert J; Tio René A; Frants Rune R; van der Laarse Arnoud; van der Wall Ernst E; Jukema J Wouter
The influence of established genetic variation in the haemostatic system on clinical restenosis after percutaneous coronary interventions.
Thrombosis and haemostasis 2007;98(6):1323-8.
2007: de Vries B; Freilinger T; Vanmolkot K R J; Koenderink J B; Stam A H; Terwindt G M; Babini E; van den Boogerd E H; van den Heuvel J J M W; Frants R R; Haan J; Pusch M; van den Maagdenberg A M J M; Ferrari M D; Dichgans M
Systematic analysis of three FHM genes in 39 sporadic patients with hemiplegic migraine.
Neurology 2007;69(23):2170-6.
2007: Lemmers Richard J L F; Wohlgemuth Marielle; van der Gaag Kristiaan J; van der Vliet Patrick J; van Teijlingen Corrie M M; de Knijff Peter; Padberg George W; Frants Rune R; van der Maarel Silvere M
Specific sequence variations within the 4q35 region are associated with facioscapulohumeral muscular dystrophy.
American journal of human genetics 2007;81(5):884-94.
2007: Moen Corina J A; Tholens Aart P; Voshol Peter J; de Haan Willeke; Havekes Louis M; Gargalovic Peter; Lusis Aldons J; van Dyk Ko Willems; Frants Rune R; Hofker Marten H; Rensen Patrick C N
The Hyplip2 locus causes hypertriglyceridemia by decreased clearance of triglycerides.
Journal of lipid research 2007;48(10):2182-92.
2007: de Greef J C; Wohlgemuth M; Chan O A; Hansson K B; Smeets D; Frants R R; Weemaes C M; Padberg G W; van der Maarel S M
Hypomethylation is restricted to the D4Z4 repeat array in phenotypic FSHD.
Neurology 2007;69(10):1018-26.
2007: van de Ven Rob C G; Hogers Bianca; van den Maagdenberg Arn M J M; de Groot Huub J M; Ferrari Michel D; Frants Rune R; Poelmann Robert E; van der Weerd Louise; Kiihne Suzanne R
T(1) relaxation in in vivo mouse brain at ultra-high field.
Magnetic resonance in medicine : official journal of the Society of Magnetic Resonance in Medicine / Society of Magnetic Resonance in Medicine 2007;58(2):390-5.
2007: 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
First case of compound heterozygosity in Na,K-ATPase gene ATP1A2 in familial hemiplegic migraine.
European journal of human genetics : EJHG 2007;15(8):884-8.
2007: 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
The cholesterol-raising factor from coffee beans, cafestol, as an agonist ligand for the farnesoid and pregnane X receptors.
Molecular endocrinology (Baltimore, Md.) 2007;21(7):1603-16.
2007: Henneman Peter; Schaap Frank G; Havekes Louis M; Rensen Patrick C N; Frants Rune R; van Tol Arie; Hattori Hiroaki; Smelt August H M; van Dijk Ko Willems
Plasma apoAV levels are markedly elevated in severe hypertriglyceridemia and positively correlated with the APOA5 S19W polymorphism.
Atherosclerosis 2007;193(1):129-34.
2007: van de Ven Rob C G; Kaja Simon; Plomp Jaap J; Frants Rune R; van den Maagdenberg Arn M J M; Ferrari Michel D
Genetic models of migraine.
Archives of neurology 2007;64(5):643-6.
2007: Mehrotra Suneet; Vanmolkot Kaate R J; Frants Rune R; van den Maagdenberg Arn M J M; Ferrari Michel D; MaassenVanDenBrink Antoinette
The phe-124-Cys and A-161T variants of the human 5-HT1B receptor gene are not major determinants of the clinical response to sumatriptan.
Headache 2007;47(5):711-6.
2007: 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
The novel p.L1649Q mutation in the SCN1A epilepsy gene is associated with familial hemiplegic migraine: genetic and functional studies. Mutation in brief #957. Online.
Human mutation 2007;28(5):522.
2007: de Snoo Femke A; Kroon Marije W; Bergman Wilma; ter Huurne Jeanet A C; Houwing-Duistermaat Jeanine J; van Mourik Leny; Snels Dyon G C T M; Breuning Martijn H; Willemze Rein; Frants Rune R; Gruis Nelleke A
From sporadic atypical nevi to familial melanoma: risk analysis for melanoma in sporadic atypical nevus patients.
Journal of the American Academy of Dermatology 2007;56(5):748-52.
2007: Kaja Simon; van de Ven Rob C G; van Dijk J Gert; Verschuuren Jan J G M; Arahata Kiichi; Frants Rune R; Ferrari Michel D; van den Maagdenberg Arn M J M; Plomp Jaap J
Severely impaired neuromuscular synaptic transmission causes muscle weakness in the Cacna1a-mutant mouse rolling Nagoya.
The European journal of neuroscience 2007;25(7):2009-20.
2007: Kaja Simon; Todorov Boyan; van de Ven Rob C G; Ferrari Michel D; Frants Rune R; van den Maagdenberg Arn M J M; Plomp Jaap J
Redundancy of Cav2.1 channel accessory subunits in transmitter release at the mouse neuromuscular junction.
Brain research 2007;1143():92-101.
2007: Huang Yanchao; 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
AHNAK, a novel component of the dysferlin protein complex, redistributes to the cytoplasm with dysferlin during skeletal muscle regeneration.
The FASEB journal : official publication of the Federation of American Societies for Experimental Biology 2007;21(3):732-42.
2007: Deak K L; Lemmers R J L F; Stajich J M; Klooster R; Tawil R; Frants R R; Speer M C; van der Maarel S M; Gilbert J R
Genotype-phenotype study in an FSHD family with a proximal deletion encompassing p13E-11 and D4Z4.
Neurology 2007;68(8):578-82.
2007: 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
Characterization of acetylcholine release and the compensatory contribution of non-Ca(v)2.1 channels at motor nerve terminals of leaner Ca(v)2.1-mutant mice.
Neuroscience 2007;144(4):1278-87.
2007: van Koningsbruggen Silvana; Straasheijm Kirsten R; Sterrenburg Ellen; de Graaf Natascha; Dauwerse Hans G; Frants Rune R; van der Maarel Silvère M
FRG1P-mediated aggregation of proteins involved in pre-mRNA processing.
Chromosoma 2007;116(1):53-64.
2007: van der Maarel Silvère M; Frants Rune R; Padberg George W
Facioscapulohumeral muscular dystrophy.
Biochimica et biophysica acta 2007;1772(2):186-94.
2007: 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
Inhibition of neointima formation by local delivery of estrogen receptor alpha and beta specific agonists.
Cardiovascular research 2007;73(1):217-26.
2007: Monraats P S; Kurreeman F A S; Pons D; Sewgobind V D K D; de Vries F R; Zwinderman A H; de Maat M P M; Doevendans P A; de Winter R J; Tio R A; Waltenberger J; Huizinga T W J; Eefting D; Quax P H A; Frants R R; van der Laarse A; van der Wall E E; Jukema J W
Interleukin 10: a new risk marker for the development of restenosis after percutaneous coronary intervention.
Genes and immunity 2007;8(1):44-50.
2007: 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
Recurrent ATP1A2 mutations in Portuguese families with familial hemiplegic migraine.
Journal of human genetics 2007;52(12):990-8.
2006: Todorov Boyan; van de Ven Rob C G; Kaja Simon; Broos Ludo A M; Verbeek Sjef J; Plomp Jaap J; Ferrari Michel D; Frants Rune R; van den Maagdenberg Arn M J M
Conditional inactivation of the Cacna1a gene in transgenic mice.
Genesis (New York, N.Y. : 2000) 2006;44(12):589-94.
2006: van der Kooi E L; de Greef J C; Wohlgemuth M; Frants R R; van Asseldonk R J G P; Blom H J; van Engelen B G M; van der Maarel S M; Padberg G W
No effect of folic acid and methionine supplementation on D4Z4 methylation in patients with facioscapulohumeral muscular dystrophy.
Neuromuscular disorders : NMD 2006;16(11):766-9.
2006: de Vries B; Haan J; Stam A H; Vanmolkot K R J; Stroink H; Laan L A E M; Gill D S; Pascual J; Frants R R; van den Maagdenberg A M J M; Ferrari M D
Alternating hemiplegia of childhood: no mutations in the glutamate transporter EAAT1.
Neuropediatrics 2006;37(5):302-4.
2006: Monraats Pascalle S; de Vries Florentine; de Jong Laura W; Pons Douwe; Sewgobind Varsha D K D; Zwinderman Aeilko H; de Maat Moniek P M; 't Hart Leen M; Doevendans Pieter A; de Winter Robbert J; Tio René A; Waltenberger Johannes; Frants Rune R; van der Laarse Arnoud; van der Wall Ernst E; Wouter Jukema J
Inflammation and apoptosis genes and the risk of restenosis after percutaneous coronary intervention.
Pharmacogenetics and genomics 2006;16(10):747-54.
2006: Lemmers R J L F; van der Wielen M J R; Bakker E; Frants R R; van der Maarel S M
Rapid and accurate diagnosis of facioscapulohumeral muscular dystrophy.
Neuromuscular disorders : NMD 2006;16(9-10):615-7; author reply 617-8.
2006: Lopes Luciana R; Peres Mario Fernando Prieto; Vanmolkot Kaate R J; Tobo Patrícia R; Zukerman Eliova; Frants Rune R; van den Maagdenberg Arn M J M; Moreira-Filho Carlos Alberto
Mutation analysis of CACNA1A and ATP1A2 genes in Brazilian FHM families.
Arquivos de neuro-psiquiatria 2006;64(3A):549-52.
2006: Verheesen Peter; Roussis Andreas; de Haard Hans J; Groot Arjan J; Stam Jord C; den Dunnen Johan T; Frants Rune R; Verkleij Arie J; Theo Verrips C; van der Maarel Silvère M
Reliable and controllable antibody fragment selections from Camelid non-immune libraries for target validation.
Biochimica et biophysica acta 2006;1764(8):1307-19.
2006: De Vries Boukje; Haan Joost; Frants Rune R; Van den Maagdenberg Arn M J M; Ferrari Michel D
Genetic biomarkers for migraine.
Headache 2006;46(7):1059-68.
2006: 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
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.
The journal of gene medicine 2006;8(6):668-78.
2006: 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
Two de novo mutations in the Na,K-ATPase gene ATP1A2 associated with pure familial hemiplegic migraine.
European journal of human genetics : EJHG 2006;14(5):555-60.
2006: Kaja Simon; Van de Ven Rob C G; Ferrari Michel D; Frants Rune R; Van den Maagdenberg Arn M J M; Plomp Jaap J
Compensatory contribution of Cav2.3 channels to acetylcholine release at the neuromuscular junction of tottering mice.
Journal of neurophysiology 2006;95(4):2698-704.
2006: 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
Equal proportions of affected cells in muscle and blood of a mosaic carrier of facioscapulohumeral muscular dystrophy.
Human genetics 2006;119(1-2):23-8.
2006: Vanmolkot K R J; Stroink H; Koenderink J B; Kors E E; van den Heuvel J J M W; van den Boogerd E H; Stam A H; Haan J; De Vries B B A; Terwindt G M; Frants R R; Ferrari M D; van den Maagdenberg A M J M
Severe episodic neurological deficits and permanent mental retardation in a child with a novel FHM2 ATP1A2 mutation.
Annals of neurology 2006;59(2):310-4.
2006: Scher Ann I; Terwindt Gisela M; Verschuren W M Monique; Kruit Mark C; Blom Henk J; Kowa Hisanori; Frants Rune R; van den Maagdenberg Arn M J M; van Buchem Mark; Ferrari Michel D; Launer Lenore J
Migraine and MTHFR C677T genotype in a population-based sample.
Annals of neurology 2006;59(2):372-5.
2005: 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
Tumor necrosis factor-alpha plays an important role in restenosis development.
The FASEB journal : official publication of the Federation of American Societies for Experimental Biology 2005;19(14):1998-2004.
2005: Hottenga J J; Vanmolkot K R J; Kors E E; Kheradmand Kia S; de Jong P T V M; Haan J; Terwindt G M; Frants R R; Ferrari M D; van den Maagdenberg A M J M
The 3p21.1-p21.3 hereditary vascular retinopathy locus increases the risk for Raynaud's phenomenon and migraine.
Cephalalgia : an international journal of headache 2005;25(12):1168-72.
2005: Krom Y D; Gras J C E; Frants R R; Havekes L M; van Berkel T J; Biessen E A L; van Dijk K Willems
Efficient targeting of adenoviral vectors to integrin positive vascular cells utilizing a CAR-cyclic RGD linker protein.
Biochemical and biophysical research communications 2005;338(2):847-54.
2005: Rana Jamal S; Monraats Pascalle S; Zwinderman Aeilko H; de Maat Moniek P M; Kastelein John J P; Agema Willem R P; Doevendans Pieter A F; de Winter Robbert J; Tio René A; Waltenberger Johannes; Frants Rune R; van der Laarse Arnoud; van der Wall Ernst E; Jukema J Wouter
Pre-procedural levels of erythrocyte sedimentation rate (ESR) and risk of clinical restenosis in patients with percutaneous coronary intervention and coronary stent placement.
Thrombosis and haemostasis 2005;94(4):892-4.
2005: Monraats Pascalle S; Pires Nuno M M; Agema Willem R P; Zwinderman Aeilko H; Schepers Abbey; de Maat Moniek P M; Doevendans Pieter A; de Winter Robbert J; Tio René A; Waltenberger Johannes; Frants Rune R; Quax Paul H A; van Vlijmen Bart J M; Atsma Douwe E; van der Laarse Arnoud; van der Wall Ernst E; Jukema J Wouter
Genetic inflammatory factors predict restenosis after percutaneous coronary interventions.
Circulation 2005;112(16):2417-25.
2005: van Overveld Petra G M; Enthoven Leo; Ricci Enzo; Rossi Monica; Felicetti Luciano; Jeanpierre Marc; Winokur Sara T; Frants Rune R; Padberg George W; van der Maarel Silvère M
Variable hypomethylation of D4Z4 in facioscapulohumeral muscular dystrophy.
Annals of neurology 2005;58(4):569-76.
2005: Kreeft Arja J; Moen Corina J A; Porter Gordon; Kasanmoentalib Soemini; Sverdlov Ronit; van Gorp Patrick J; Havekes Louis M; Frants Rune R; Hofker Marten H
Genomic analysis of the response of mouse models to high-fat feeding shows a major role of nuclear receptors in the simultaneous regulation of lipid and inflammatory genes.
Atherosclerosis 2005;182(2):249-57.
2005: Monraats Pascalle S; Rana Jamal S; Nierman Melchior C; Pires Nuno M M; Zwinderman Aeilko H; Kastelein John J P; Kuivenhoven Jan Albert; de Maat Moniek P M; Rittersma Saskia Z H; Schepers Abbey; Doevendans Pieter A F; de Winter Robbert J; Tio René A; Frants Rune R; Quax Paul H A; van der Laarse Arnoud; van der Wall Ernst E; Jukema J Wouter
Lipoprotein lipase gene polymorphisms and the risk of target vessel revascularization after percutaneous coronary intervention.
Journal of the American College of Cardiology 2005;46(6):1093-100.
2005: Stam Anine H; Haan Joost; Frants Rune R; Ferrari Michel D; van den Maagdenberg Arn Mjm
Migraine: new treatment options from molecular biology.
Expert review of neurotherapeutics 2005;5(5):653-61.
2005: Buzhov Borian T; Lemmers Richard J L F; Tournev Ivailo; van der Wielen Michiel J R; Ishpekova Boriana; Petkov Radoslav; Petrova Julia; Frants Rune R; Padberg George W; van der Maarel Silvère M
Recurrent somatic mosaicism for D4Z4 contractions in a family with facioscapulohumeral muscular dystrophy.
Neuromuscular disorders : NMD 2005;15(7):471-5.
2005: Haan J; Kors E E; Vanmolkot Kaate R J; van den Maagdenberg Arn M J M; Frants Rune R; Ferrari M D
Migraine genetics: an update.
Current pain and headache reports 2005;9(3):213-20.
2005: Callenbach P M C; van den Boogerd E H; de Coo R F M; ten Houten R; Oosterwijk J C; Hageman G; Frants R R; Brouwer O F; van den Maagdenberg A M J M
Refinement of the chromosome 16 locus for benign familial infantile convulsions.
Clinical genetics 2005;67(6):517-25.
2005: 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; van der Maarel Silvère M
Protein studies in dysferlinopathy patients using llama-derived antibody fragments selected by phage display.
European journal of human genetics : EJHG 2005;13(6):721-30.
2005: Rana Jamal S; Monraats Pascalle S; Zwinderman Aeilko H; de Maat Moniek P M; Kastelein John J P; Doevendans Pieter A F; de Winter Robbert J; Tio René A; Frants Rune R; van der Laarse Arnoud; van der Wall Ernst E; Jukema J Wouter;
Metabolic syndrome and risk of restenosis in patients undergoing percutaneous coronary intervention.
Diabetes care 2005;28(4):873-7.
2005: Monraats Pascalle S; Rana Jamal S; Zwinderman Aeilko H; de Maat Moniek P M; Kastelein John P; Agema Willem R P; Doevendans Pieter A F; de Winter Robbert J; Tio René A; Waltenberger Johannes; Frants Rune R; van der Laarse Arnoud; van der Wall Ernst E; Jukema J Wouter
-455G/A polymorphism and preprocedural plasma levels of fibrinogen show no association with the risk of clinical restenosis in patients with coronary stent placement.
Thrombosis and haemostasis 2005;93(3):564-9.
2005: van der Maarel Silvère M; Frants Rune R
The D4Z4 repeat-mediated pathogenesis of facioscapulohumeral muscular dystrophy.
American journal of human genetics 2005;76(3):375-86.
2005: Buzhov Borian T; Lemmers Richard J L F; Tournev Ivailo; Dikova Chayka; Kremensky Ivo; Petrova Julia; Frants Rune R; van der Maarel Silvère M
Genetic confirmation of facioscapulohumeral muscular dystrophy in a case with complex D4Z4 rearrangments.
Human genetics 2005;116(4):262-6.
2005: 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
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.
Neuroscience 2005;135(1):81-95.
2005: Callenbach Petra M C; van den Maagdenberg Arn M J M; Frants Rune R; Brouwer Oebele F
Clinical and genetic aspects of idiopathic epilepsies in childhood.
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society 2005;9(2):91-103.
2004: Lemmers Richard J F L; Wohlgemuth Mariëlle; Frants Rune R; Padberg George W; Morava Eva; van der Maarel Silvere M
Contractions of D4Z4 on 4qB subtelomeres do not cause facioscapulohumeral muscular dystrophy.
American journal of human genetics 2004;75(6):1124-30.
2004: Rijkers T; Deidda G; van Koningsbruggen S; van Geel M; Lemmers R J L F; van Deutekom J C T; Figlewicz D; Hewitt J E; Padberg G W; Frants R R; van der Maarel S M
FRG2, an FSHD candidate gene, is transcriptionally upregulated in differentiating primary myoblast cultures of FSHD patients.
Journal of medical genetics 2004;41(11):826-36.
2004: Kors E E; Vanmolkot K R J; Haan J; Kheradmand Kia S; Stroink H; Laan L A E M; Gill D S; Pascual J; van den Maagdenberg A M J M; Frants R R; Ferrari M D
Alternating hemiplegia of childhood: no mutations in the second familial hemiplegic migraine gene ATP1A2.
Neuropediatrics 2004;35(5):293-6.
2004: Kors E E; Vanmolkot K R J; Haan J; van den Maagdenberg A M J M; Frants R R; Ferrari M D
[From gene to disease; familial hemiplegic migraine as a result of mutations in a sodium-potassium pump gene]
Nederlands tijdschrift voor geneeskunde 2004;148(39):1919-20.
2004: 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
Childhood epilepsy, familial hemiplegic migraine, cerebellar ataxia, and a new CACNA1A mutation.
Neurology 2004;63(6):1136-7.
2004: 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
Current PTCA practice and clinical outcomes in The Netherlands: the real world in the pre-drug-eluting stent era.
European heart journal 2004;25(13):1163-70.
2004: Lemmers Richard J L F; Van Overveld Petra G M; Sandkuijl Lodewijk A; Vrieling Harry; Padberg George W; Frants Rune R; van der Maarel Silvère M
Mechanism and timing of mitotic rearrangements in the subtelomeric D4Z4 repeat involved in facioscapulohumeral muscular dystrophy.
American journal of human genetics 2004;75(1):44-53.
2004: Lemmers Richard J L F; van der Wielen Michiel J R; Bakker Egbert; Padberg George W; Frants Rune R; van der Maarel Silvère M
Somatic mosaicism in FSHD often goes undetected.
Annals of neurology 2004;55(6):845-50.
2004: Kors Esther E; Vanmolkot Kaate R J; Haan Joost; Frants Rune R; van den Maagdenberg Arn M J M; Ferrari Michel D
Recent findings in headache genetics.
Current opinion in neurology 2004;17(3):283-8.
2004: Kaunisto M A; Harno H; Vanmolkot K R J; Gargus J J; Sun G; Hämäläinen E; Liukkonen E; Kallela M; van den Maagdenberg A M J M; Frants R R; Färkkilä M; Palotie A; Wessman M
A novel missense ATP1A2 mutation in a Finnish family with familial hemiplegic migraine type 2.
Neurogenetics 2004;5(2):141-6.
2004: Haan Joost; Kors Esther E; van den Maagdenberg Arn M J M; Vanmolkot Kaate R J; Terwindt Gisela M; Frants Rune R; Ferrari Michel D
Toward a molecular genetic classification of familial hemiplegic migraine.
Current pain and headache reports 2004;8(3):238-43.
2004: Beekman Marian; Posthuma Daniëlle; Heijmans Bastiaan T; Lakenberg Nico; Suchiman H Eka D; Snieder Harold; de Knijff Peter; Frants Rune R; van Ommen Gert Jan B; Kluft Cornelis; Vogler George P; Slagboom P Eline; Boomsma Dorret I
Combined association and linkage analysis applied to the APOE locus.
Genetic epidemiology 2004;26(4):328-37.
2004: van Koningsbruggen S; Dirks R W; Mommaas A M; Onderwater J J; Deidda G; Padberg G W; Frants R R; van der Maarel S M
FRG1P is localised in the nucleolus, Cajal bodies, and speckles.
Journal of medical genetics 2004;41(4):e46.
2004: van den Maagdenberg Arn M J M; Pietrobon Daniela; Pizzorusso Tommaso; Kaja Simon; Broos Ludo A M; Cesetti Tiziana; van de Ven Rob C G; Tottene Angelita; van der Kaa Jos; Plomp Jaap J; Frants Rune R; Ferrari Michel D
A Cacna1a knockin migraine mouse model with increased susceptibility to cortical spreading depression.
Neuron 2004;41(5):701-10.
2004: Tonini M M O; Pavanello R C M; Gurgel-Giannetti J; Lemmers R J; van der Maarel S M; Frants R R; Zatz M
Homozygosity for autosomal dominant facioscapulohumeral muscular dystrophy (FSHD) does not result in a more severe phenotype.
Journal of medical genetics 2004;41(2):e17.
2003: van Overveld Petra G M; Lemmers Richard J F L; Sandkuijl Lodewijk A; Enthoven Leo; Winokur Sara T; Bakels Floor; Padberg George W; van Ommen Gert-Jan B; Frants Rune R; van der Maarel Silvère M
Hypomethylation of D4Z4 in 4q-linked and non-4q-linked facioscapulohumeral muscular dystrophy.
Nature genetics 2003;35(4):315-7.
2003: Zuidervaart W; van der Velden P A; Hurks M H; van Nieuwpoort F A; Out-Luiting C J J; Singh A D; Frants R R; Jager M J; Gruis N A
Gene expression profiling identifies tumour markers potentially playing a role in uveal melanoma development.
British journal of cancer 2003;89(10):1914-9.
2003: 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
Evidence for a QTL on chromosome 19 influencing LDL cholesterol levels in the general population.
European journal of human genetics : EJHG 2003;11(11):845-50.
2003: Wohlgemuth M; Lemmers R J; van der Kooi E L; van der Wielen M J; van Overveld P G; Dauwerse H; Bakker E; Frants R R; Padberg G W; van der Maarel S M
Possible phenotypic dosage effect in patients compound heterozygous for FSHD-sized 4q35 alleles.
Neurology 2003;61(7):909-13.
2003: Callenbach Petra M C; van den Maagdenberg Arn M J M; Hottenga Jouke J; van den Boogerd Eelke H; de Coo René F M; Lindhout Dick; Frants Rune R; Sandkuijl Lodewijk A; Brouwer Oebele F
Familial partial epilepsy with variable foci in a Dutch family: clinical characteristics and confirmation of linkage to chromosome 22q.
Epilepsia 2003;44(10):1298-305.
2003: Plomp J J; van den Maagdenberg A M; Ferrari M D; Frants R R; Molenaar P C
Transmitter release deficits at the neuromuscular synapse of mice with mutations in the Cav2.1 (alpha1A) subunit of the P/Q-type Ca2+ channel.
Annals of the New York Academy of Sciences 2003;998():29-32.
2003: Vanmolkot Kaate R J; Kors Esther E; Hottenga Jouke-Jan; Terwindt Gisela M; Haan Joost; Hoefnagels Wil A J; Black David F; Sandkuijl Lodewijk A; Frants Rune R; Ferrari Michel D; van den Maagdenberg Arn M J M
Novel mutations in the Na+, K+-ATPase pump gene ATP1A2 associated with familial hemiplegic migraine and benign familial infantile convulsions.
Annals of neurology 2003;54(3):360-6.
2003: van der Velden Pieter A; Zuidervaart Wieke; Hurks Monique H M H; Pavey Sandra; Ksander Bruce R; Krijgsman Elise; Frants Rune R; Tensen Cornelis P; Willemze Rein; Jager Martine J; Gruis Nelleke A
Expression profiling reveals that methylation of TIMP3 is involved in uveal melanoma development.
International journal of cancer. Journal international du cancer 2003;106(4):472-9.
2003: Beekman Marian; Heijmans Bastiaan T; Martin Nicholas G; Whitfield John B; Pedersen Nancy L; DeFaire Ulf; Snieder Harold; Lakenberg Nico; de Knijff Peter; Frants Rune R; van Ommen Gert Jan B; Kluft Cornelis; Vogler George P; Slagboom P Eline; Boomsma Dorret I
Two-locus linkage analysis applied to putative quantitative trait loci for lipoprotein(a) levels.
Twin research : the official journal of the International Society for Twin Studies 2003;6(4):322-4.
2003: Boomsma Dorret I; Princen Hans M; Frants Rune R; Gevers Leuven Jan A; Kempen Herman-Jan M
Genetic analysis of indicators of cholesterol synthesis and absorption: lathosterol and phytosterols in Dutch twins and their parents.
Twin research : the official journal of the International Society for Twin Studies 2003;6(4):307-14.
2003: van Koningsbruggen S; de Haard H; de Kievit P; Dirks R W; van Remoortere A; Groot A J; van Engelen B G M; den Dunnen J T; Verrips C T; Frants R R; van der Maarel S M
Llama-derived phage display antibodies in the dissection of the human disease oculopharyngeal muscular dystrophy.
Journal of immunological methods 2003;279(1-2):149-61.
2003: Lemmers R J L F; Osborn M; Haaf T; Rogers M; Frants R R; Padberg G W; Cooper D N; van der Maarel S M; Upadhyaya M
D4F104S1 deletion in facioscapulohumeral muscular dystrophy: phenotype, size, and detection.
Neurology 2003;61(2):178-83.
2003: Zhang Jing-li; Shen Ding-guo; Zhou Ping-kun; Liu Jian-wei; Jia Ning; Liu Hong; Wang Hong-bin; Yang Su-xia; Frants Rune R
[Gene diagnosis of facioscapulohumeral muscular dystrophy]
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2003;20(3):232-4.
2003: Kors E E; Haan J; Giffin N J; Pazdera L; Schnittger C; Lennox G G; Terwindt G M; Vermeulen F L M J; Van den Maagdenberg A M J M; Frants R R; Ferrari M D
Expanding the phenotypic spectrum of the CACNA1A gene T666M mutation: a description of 5 families with familial hemiplegic migraine.
Archives of neurology 2003;60(5):684-8.
2002: van den Maagdenberg A M J M; Kors E E; Brunt E R; van Paesschen W; Pascual J; Ravine D; Keeling S; Vanmolkot K R J; Vermeulen F L M G; Terwindt G M; Haan J; Frants R R; Ferrari M D
Episodic ataxia type 2. Three novel truncating mutations and one novel missense mutation in the CACNA1A gene.
Journal of neurology 2002;249(11):1515-9.
2002: 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
Facioscapulohumeral muscular dystrophy is uniquely associated with one of the two variants of the 4q subtelomere.
Nature genetics 2002;32(2):235-6.
2002: Tijssen Marina A J; Vergouwe Monique N; van Dijk J Gert; Rees Michelle; Frants Rune R; Brown Peter
Major and minor form of hereditary hyperekplexia.
Movement disorders : official journal of the Movement Disorder Society 2002;17(4):826-30.
2002: Rea Ruth; Tijssen Marina A; Herd Colin; Frants Rune R; Kullmann Dimitri M
Functional characterization of compound heterozygosity for GlyRalpha1 mutations in the startle disease hyperekplexia.
The European journal of neuroscience 2002;16(2):186-96.
2002: Terwindt Gisela; Kors Esther; Haan Joost; Vermeulen Frans; Van den Maagdenberg Arn; Frants Rune; Ferrari Michel
Mutation analysis of the CACNA1A calcium channel subunit gene in 27 patients with sporadic hemiplegic migraine.
Archives of neurology 2002;59(6):1016-8.
2002: Kors Esther E; van den Maagdenberg Arn M J M; Plomp Jaap J; Frants Rune R; Ferrari Michel D
Calcium channel mutations and migraine.
Current opinion in neurology 2002;15(3):311-6.
2002: van Geel Michel; Dickson Morag C; Beck Amy F; Bolland Daniel J; Frants Rune R; van der Maarel Silvère M; de Jong Pieter J; Hewitt Jane E
Genomic analysis of human chromosome 10q and 4q telomeres suggests a common origin.
Genomics 2002;79(2):210-7.
2002: van Geel Michel; Eichler Evan E; Beck Amy F; Shan Zhihong; Haaf Thomas; van der Maarel Silvère M; Frants Rune R; de Jong Pieter J
A cascade of complex subtelomeric duplications during the evolution of the hominoid and Old World monkey genomes.
American journal of human genetics 2002;70(1):269-78.
2002: Callenbach Petra M C; de Coo René F M; Vein Alla A; Arts Willem Frans M; Oosterwijk Jan; Hageman Gerard; ten Houten Robert; Terwindt Gisela M; Lindhout Dick; Frants Rune R; Brouwer Oebele F
Benign familial infantile convulsions: a clinical study of seven Dutch families.
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society 2002;6(5):269-83.
2001: Haan J; van Vliet J A; Kors E E; Terwindt G M; Vermeulen F L; van den Maagdenberg A M; Frants R R; Ferrari M D
No involvement of the calcium channel gene (CACNA1A) in a family with cluster headache.
Cephalalgia : an international journal of headache 2001;21(10):959-62.
2001: Lemmers RJL; de Kievit P; van Geel M; van der Wielen M J; Bakker E; Padberg G W; Frants R R; van der Maarel S M
Complete allele information in the diagnosis of facioscapulohumeral muscular dystrophy by triple DNA analysis.
Annals of neurology 2001;50(6):816-9.
2001: Kreeft A J; Moen C J; Hofker M H; Frants R R; Vreugdenhil E; Gijbels M J; Havekes L M; Datson N A
Identification of differentially regulated genes in mildly hyperlipidemic ApoE3-Leiden mice by use of serial analysis of gene expression.
Arteriosclerosis, thrombosis, and vascular biology 2001;21(12):1984-90.
2001: van der Velden P A; Sandkuijl L A; Bergman W; Pavel S; van Mourik L; Frants R R; Gruis N A
Melanocortin-1 receptor variant R151C modifies melanoma risk in Dutch families with melanoma.
American journal of human genetics 2001;69(4):774-9.
2001: Plomp J J; van den Maagdenberg A M; Molenaar P C; Frants R R; Ferrari M D
Mutant P/Q-type calcium channel electrophysiology and migraine.
Current opinion in investigational drugs (London, England : 2000) 2001;2(9):1250-60.
2001: Ophoff R A; DeYoung J; Service S K; Joosse M; Caffo N A; Sandkuijl L A; Terwindt G M; Haan J; van den Maagdenberg A M; Jen J; Baloh R W; Barilla-LaBarca M L; Saccone N L; Atkinson J P; Ferrari M D; Freimer N B; Frants R R
Hereditary vascular retinopathy, cerebroretinal vasculopathy, and hereditary endotheliopathy with retinopathy, nephropathy, and stroke map to a single locus on chromosome 3p21.1-p21.3.
American journal of human genetics 2001;69(2):447-53.
2001: van der Velden P A; Metzelaar-Blok J A; Bergman W; Monique H; Hurks H; Frants R R; Gruis N A; Jager M J
Promoter hypermethylation: a common cause of reduced p16(INK4a) expression in uveal melanoma.
Cancer research 2001;61(13):5303-6.
2001: Tacken P J; van der Zee A; Beumer T L; Florijn R J; Gijpels M J; Havekes L M; Frants R R; van Dijk K W; Hofker M H
Effective generation of very low density lipoprotein receptor transgenic mice by overlapping genomic DNA fragments: high testis expression and disturbed spermatogenesis.
Transgenic research 2001;10(3):211-21.
2001: 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; Frants R R; Ferrari M D
Delayed cerebral edema and fatal coma after minor head trauma: role of the CACNA1A calcium channel subunit gene and relationship with familial hemiplegic migraine.
Annals of neurology 2001;49(6):753-60.
2001: Beekman M; Lakenberg N; Cherny S S; de Knijff P; Kluft C C; van Ommen G J; Vogler G P; Frants R R; Boomsma D I; Slagboom P E
A powerful and rapid approach to human genome scanning using small quantities of genomic DNA.
Genetical research 2001;77(2):129-34.
2001: Terwindt G M; Ophoff R A; van Eijk R; Vergouwe M N; Haan J; Frants R R; Sandkuijl L A; Ferrari M D;
Involvement of the CACNA1A gene containing region on 19p13 in migraine with and without aura.
Neurology 2001;56(8):1028-32.
2001: Guida S; Trettel F; Pagnutti S; Mantuano E; Tottene A; Veneziano L; Fellin T; Spadaro M; Stauderman K; Williams M; Volsen S; Ophoff R; Frants R; Jodice C; Frontali M; Pietrobon D
Complete loss of P/Q calcium channel activity caused by a CACNA1A missense mutation carried by patients with episodic ataxia type 2.
American journal of human genetics 2001;68(3):759-64.
2001: Kors E E; Haan J; Frants R R; Ferrari M D
[From gene to disease; from CACNA1A to migraine]
Nederlands tijdschrift voor geneeskunde 2001;145(6):266-7.
2001: Ophoff R A; van den Maagdenberg A M; Roon K I; Ferrari M D; Frants R R
The impact of pharmacogenetics for migraine.
European journal of pharmacology 2001;413(1):1-10.
2000: van Overveld P G; Lemmers R J; Deidda G; Sandkuijl L; Padberg G W; Frants R R; van der Maarel S M
Interchromosomal repeat array interactions between chromosomes 4 and 10: a model for subtelomeric plasticity.
Human molecular genetics 2000;9(19):2879-84.
2000: Haan J; Kors E E; Terwindt G M; Vermeulen F L; Vergouwe M N; van den Maagdenberg A M; Gill D S; Pascual J; Ophoff R A; Frants R R; Ferrari
Alternating hemiplegia of childhood: no mutations in the familial hemiplegic migraine CACNA1A gene.
Cephalalgia : an international journal of headache 2000;20(8):696-700.
2000: Vasen H F; Gruis N A; Frants R R; van Der Velden P A; Hille E T; Bergman W
Risk of developing pancreatic cancer in families with familial atypical multiple mole melanoma associated with a specific 19 deletion of p16 (p16-Leiden).
International journal of cancer. Journal international du cancer 2000;87(6):809-11.
2000: Hoffer M J; Snieder H; Bredie S J; Demacker P N; Kastelein J J; Frants R R; Stalenhoef A F
The V73M mutation in the hepatic lipase gene is associated with elevated cholesterol levels in four Dutch pedigrees with familial combined hyperlipidemia.
Atherosclerosis 2000;151(2):443-50.
2000: de Graaf J; Hoffer M J; Stuyt P M; Frants R R; Stalenhoef A F
Familial chylomicronemia caused by a novel type of mutation in the APOE-CI-CIV-CII gene cluster encompassing both the APOCII gene and the first APOCIV gene mutation: APOCII-CIV(Nijmegen).
Biochemical and biophysical research communications 2000;273(3):1084-7.
2000: Sijbrands E J; Westendorp R G; Paola Lombardi M; Havekes L M; Frants R R; Kastelein J J; Smelt A H
Additional risk factors influence excess mortality in heterozygous familial hypercholesterolaemia.
Atherosclerosis 2000;149(2):421-5.
2000: Plomp J J; Vergouwe M N; Van den Maagdenberg A M; Ferrari M D; Frants R R; Molenaar P C
Abnormal transmitter release at neuromuscular junctions of mice carrying the tottering alpha(1A) Ca(2+) channel mutation.
Brain : a journal of neurology 2000;123 Pt 3():463-71.
2000: van der Maarel S M; Deidda G; Lemmers R J; van Overveld P G; van der Wielen M; Hewitt J E; Sandkuijl L; Bakker B; van Ommen G J; Padberg G W; Frants R R
De novo facioscapulohumeral muscular dystrophy: frequent somatic mosaicism, sex-dependent phenotype, and the role of mitotic transchromosomal repeat interaction between chromosomes 4 and 10.
American journal of human genetics 2000;66(1):26-35.
2000: van Geel M; van Deutekom J C; van Staalduinen A; Lemmers R J; Dickson M C; Hofker M H; Padberg G W; Hewitt J E; de Jong P J; Frants R R
Identification of a novel beta-tubulin subfamily with one member (TUBB4Q) located near the telomere of chromosome region 4q35.
Cytogenetics and cell genetics 2000;88(3-4):316-21.
1999: de Winther M P; van Dijk K W; van Vlijmen B J; Gijbels M J; Heus J J; Wijers E R; van den Bos A C; Breuer M; Frants R R; Havekes L M; Hofker M H
Macrophage specific overexpression of the human macrophage scavenger receptor in transgenic mice, using a 180-kb yeast artificial chromosome, leads to enhanced foam cell formation of isolated peritoneal macrophages.
Atherosclerosis 1999;147(2):339-47.
1999: Grewal P K; Jones A M; Maconochie M; Lemmers R J; Frants R R; Hewitt J E
Cloning of the murine unconventional myosin gene Myo9b and identification of alternative splicing.
Gene 1999;240(2):389-98.
1999: Sijbrands E J; Hoffer M J; Meinders A E; Havekes L M; Frants R R; Smelt A H; De Knijff P
Severe hyperlipidemia in apolipoprotein E2 homozygotes due to a combined effect of hyperinsulinemia and an SstI polymorphism.
Arteriosclerosis, thrombosis, and vascular biology 1999;19(11):2722-9.
1999: van der Maarel S M; Deidda G; Lemmers R J; Bakker E; van der Wielen M J; Sandkuijl L; Hewitt J E; Padberg G W; Frants R R
A new dosage test for subtelomeric 4;10 translocations improves conventional diagnosis of facioscapulohumeral muscular dystrophy (FSHD).
Journal of medical genetics 1999;36(11):823-8.
1999: Vergouwe M N; Tijssen M A; Peters A C; Wielaard R; Frants R R
Hyperekplexia phenotype due to compound heterozygosity for GLRA1 gene mutations.
Annals of neurology 1999;46(4):634-8.
1999: van Geel M; Heather L J; Lyle R; Hewitt J E; Frants R R; de Jong P J
The FSHD region on human chromosome 4q35 contains potential coding regions among pseudogenes and a high density of repeat elements.
Genomics 1999;61(1):55-65.
1999: Gruis N A; van der Velden P A; Bergman W; Frants R R
Familial melanoma; CDKN2A and beyond.
The journal of investigative dermatology. Symposium proceedings / the Society for Investigative Dermatology, Inc. [and] European Society for Dermatological Research 1999;4(1):50-4.
1999: Frants R R
The use of isolates in migraine genetic research.
Cephalalgia : an international journal of headache 1999;19 Suppl 24():19-21; discussion 21-4.
1999: de Winther M P; Gijbels M J; van Dijk K W; van Gorp P J; suzuki H; Kodama T; Frants R R; Havekes L M; Hofker M H
Scavenger receptor deficiency leads to more complex atherosclerotic lesions in APOE3Leiden transgenic mice.
Atherosclerosis 1999;144(2):315-21.
1999: van der Velden P A; Sandkuijl L A; Bergman W; Hille E T; Frants R R; Gruis N A
A locus linked to p16 modifies melanoma risk in Dutch familial atypical multiple mole melanoma (FAMMM) syndrome families.
Genome research 1999;9(6):575-80.
1999: Oberstein S A; Ferrari M D; Bakker E; van Gestel J; Kneppers A L; Frants R R; Breuning M H; Haan J
Diagnostic Notch3 sequence analysis in CADASIL: three new mutations in Dutch patients. Dutch CADASIL Research Group.
Neurology 1999;52(9):1913-5.
1999: Grewal P K; van Geel M; Frants R R; de Jong P; Hewitt J E
Recent amplification of the human FRG1 gene during primate evolution.
Gene 1999;227(1):79-88.
1999: Haan J; Terwindt G M; Maassen J A; Hart L M; Frants R R; Ferrari M D
Search for mitochondrial DNA mutations in migraine subgroups.
Cephalalgia : an international journal of headache 1999;19(1):20-2.
1998: Hoffer M J; Sijbrands E J; De Man F H; Havekes L M; Smelt A H; Frants R R
Increased risk for endogenous hypertriglyceridaemia is associated with an apolipoprotein C3 haplotype specified by the SstI polymorphism.
European journal of clinical investigation 1998;28(10):807-12.
1998: Grewal P K; Todd L C; van der Maarel S; Frants R R; Hewitt J E
FRG1, a gene in the FSH muscular dystrophy region on human chromosome 4q35, is highly conserved in vertebrates and invertebrates.
Gene 1998;216(1):13-9.
1998: Lemmers R J; van der Maarel S M; van Deutekom J C; van der Wielen M J; Deidda G; Dauwerse H G; Hewitt J; Hofker M; Bakker E; Padberg G W; Frants R R
Inter- and intrachromosomal sub-telomeric rearrangements on 4q35: implications for facioscapulohumeral muscular dystrophy (FSHD) aetiology and diagnosis.
Human molecular genetics 1998;7(8):1207-14.
1998: Terwindt G M; Ophoff R A; Haan J; Sandkuijl L A; Frants R R; Ferrari M D
Migraine, ataxia and epilepsy: a challenging spectrum of genetically determined calcium channelopathies. Dutch Migraine Genetics Research Group.
European journal of human genetics : EJHG 1998;6(4):297-307.
1998: Gruis N A; Van der Velden P A; Bergman W; Frants R R
Genetics of familial atypical multiple mole-melanoma (FAMMM) syndrome in The Netherlands: how far have we come?
Bulletin du cancer 1998;85(7):627-30.
1998: Maassen VanDenBrink A; Vergouwe M N; Ophoff R A; Naylor S L; Dauwerse H G; Saxena P R; Ferrari M D; Frants R R
Chromosomal localization of the 5-HT1F receptor gene: no evidence for involvement in response to sumatriptan in migraine patients.
American journal of medical genetics 1998;77(5):415-20.
1998: Hoffer M J; Bredie S J; Snieder H; Reymer P W; Demacker P N; Havekes L M; Boomsma D I; Stalenhoef A F; Frants R R; Kastelein J J
Gender-related association between the -93T-->G/D9N haplotype of the lipoprotein lipase gene and elevated lipid levels in familial combined hyperlipidemia.
Atherosclerosis 1998;138(1):91-9.
1998: Terwindt G M; Ophoff R A; Haan J; Frants R R; Ferrari M D
[Channelopathies: a genetic explanation of migraine and other paroxysmal neurologic disorders]
Nederlands tijdschrift voor geneeskunde 1998;142(18):1015-9.
1998: MaassenVanDenBrink A; Vergouwe M N; Ophoff R A; Saxena P R; Ferrari M D; Frants R R
5-HT1B receptor polymorphism and clinical response to sumatriptan.
Headache 1998;38(4):288-91.
1998: Terwindt G M; Ophoff R A; Haan J; Vergouwe M N; van Eijk R; Frants R R; Ferrari M D
Variable clinical expression of mutations in the P/Q-type calcium channel gene in familial hemiplegic migraine. Dutch Migraine Genetics Research Group.
Neurology 1998;50(4):1105-10.
1998: Terwindt G M; Haan J; Ophoff R A; Groenen S M; Storimans C W; Lanser J B; Roos R A; Bleeker-Wagemakers E M; Frants R R; Ferrari M D
Clinical and genetic analysis of a large Dutch family with autosomal dominant vascular retinopathy, migraine and Raynaud's phenomenon.
Brain : a journal of neurology 1998;121 ( Pt 2)():303-16.
1998: Sijbrands E J; Lombardi M P; Westendorp R G; Leuven J A; Meinders A E; Van der Laarse A; Frants R R; Havekes L M; Smelt A H
Similar response to simvastatin in patients heterozygous for familial hypercholesterolemia with mRNA negative and mRNA positive mutations.
Atherosclerosis 1998;136(2):247-54.
1997: Ophoff R A; Terwindt G M; Vergouwe M N; Frants R R; Ferrari M D
Familial hemiplegic migraine: involvement of a calcium neuronal channel.
Neurología (Barcelona, Spain) 1997;12 Suppl 5():31-7.
1997: Jodice C; Mantuano E; Veneziano L; Trettel F; Sabbadini G; Calandriello L; Francia A; Spadaro M; Pierelli F; Salvi F; Ophoff R A; Frants R R; Frontali M
Episodic ataxia type 2 (EA2) and spinocerebellar ataxia type 6 (SCA6) due to CAG repeat expansion in the CACNA1A gene on chromosome 19p.
Human molecular genetics 1997;6(11):1973-8.
1997: Ophoff R A; Terwindt G M; Vergouwe M N; Frants R R; Ferrari M D
Wolff Award 1997. Involvement of a Ca2+ channel gene in familial hemiplegic migraine and migraine with and without aura. Dutch Migraine Genetics Research Group.
Headache 1997;37(8):479-85.
1997: Terwindt G M; Ophoff R A; Lindhout D; Haan J; Halley D J; Sandkuijl L A; Brouwer O F; Frants R R; Ferrari M D
Partial cosegregation of familial hemiplegic migraine and a benign familial infantile epileptic syndrome.
Epilepsia 1997;38(8):915-21.
1997: Vergouwe M N; Tijssen M A; Shiang R; van Dijk J G; al Shahwan S; Ophoff R A; Frants R R
Hyperekplexia-like syndromes without mutations in the GLRA1 gene.
Clinical neurology and neurosurgery 1997;99(3):172-8.
1997: Terwindt G M; Haan J; Ophoff R A; Frants R R; Ferrari M D
The quest for migraine genes.
Current opinion in neurology 1997;10(3):221-5.
1997: Grewal P K; van Deutekom J C; Mills K A; Lemmers R J; Mathews K D; Frants R R; Hewitt J E
The mouse homolog of FRG1, a candidate gene for FSHD, maps proximal to the myodystrophy mutation on chromosome 8.
Mammalian genome : official journal of the International Mammalian Genome Society 1997;8(6):394-8.
1996: van Deutekom J C; Bakker E; Lemmers R J; van der Wielen M J; Bik E; Hofker M H; Padberg G W; Frants R R
Evidence for subtelomeric exchange of 3.3 kb tandemly repeated units between chromosomes 4q35 and 10q26: implications for genetic counselling and etiology of FSHD1.
Human molecular genetics 1996;5(12):1997-2003.
1996: Datson N A; Semina E; van Staalduinen A A; Dauwerse H G; Meershoek E J; Heus J J; Frants R R; den Dunnen J T; Murray J C; van Ommen G J
Closing in on the Rieger syndrome gene on 4q25: mapping translocation breakpoints within a 50-kb region.
American journal of human genetics 1996;59(6):1297-305.
1996: Semina E V; Datson N A; Leysens N J; Zabel B U; Carey J C; Bell G I; Bitoun P; Lindgren C; Stevenson T; Frants R R; van Ommen G; Murray J C
Exclusion of epidermal growth factor and high-resolution physical mapping across the Rieger syndrome locus.
American journal of human genetics 1996;59(6):1288-96.
1996: Ophoff R A; Terwindt G M; Vergouwe M N; van Eijk R; Oefner P J; Hoffman S M; Lamerdin J E; Mohrenweiser H W; Bulman D E; Ferrari M; Haan J; Lindhout D; van Ommen G J; Hofker M H; Ferrari M D; Frants R R
Familial hemiplegic migraine and episodic ataxia type-2 are caused by mutations in the Ca2+ channel gene CACNL1A4.
Cell 1996;87(3):543-52.
1996: Sijbrands E J; Westendorp R G; Hoffer M J; Frants R R; Meinders A E; Souverijn J H; Gevers Leuven J A; Van der Laarse A; Havekes L M; Smelt A H
Effect of apolipoprotein E and insulin resistance on VLDL particles in combined hyperlipidemic patients.
Atherosclerosis 1996;126(2):197-205.
1996: Kremer H; Kuyt L P; van den Helm B; van Reen M; Leunissen J A; Hamel B C; Jansen C; Mariman E C; Frants R R; Padberg G W
Localization of a gene for Möbius syndrome to chromosome 3q by linkage analysis in a Dutch family.
Human molecular genetics 1996;5(9):1367-71.
1996: Hoffer M J; Niththyananthan S; Naoumova R P; Kibirige M S; Frants R R; Havekes L M; Thompson G R
Apolipoprotein E1-Hammersmith (Lys146-->Asn;Arg147-->Trp), due to a dinucleotide substitution, is associated with early manifestation of dominant type III hyperlipoproteinaemia.
Atherosclerosis 1996;124(2):183-9.
1996: Jong M C; Dahlmans V E; van Gorp P J; Breuer M L; Mol M J; van der Zee A; Frants R R; Hofker M H; Havekes L M
Both lipolysis and hepatic uptake of VLDL are impaired in transgenic mice coexpressing human apolipoprotein E*3Leiden and human apolipoprotein C1.
Arteriosclerosis, thrombosis, and vascular biology 1996;16(8):934-40.
1996: van Vlijmen B J; van Ree J H; Frants R R; Hofker M H; Havekes L M
Elevated levels of chylomicron- and VLDL-remnants leads to atherosclerosis in apoE transgenic mice.
Zeitschrift für Gastroenterologie 1996;34 Suppl 3():113-5.
1996: Grewal P K; Van Deutekom J C; Frants R R; Hewitt J E
A search for genes in the facioscapulohumeral muscular dystrophy region.
Biochemical Society transactions 1996;24(2):282S.
1996: van Deutekom J C; Lemmers R J; Grewal P K; van Geel M; Romberg S; Dauwerse H G; Wright T J; Padberg G W; Hofker M H; Hewitt J E; Frants R R
Identification of the first gene (FRG1) from the FSHD region on human chromosome 4q35.
Human molecular genetics 1996;5(5):581-90.
1996: Nelen M R; Padberg G W; Peeters E A; Lin A Y; van den Helm B; Frants R R; Coulon V; Goldstein A M; van Reen M M; Easton D F; Eeles R A; Hodgsen S; Mulvihill J J; Murday V A; Tucker M A; Mariman E C; Starink T M; Ponder B A; Ropers H H; Kremer H; Longy M; Eng C
Localization of the gene for Cowden disease to chromosome 10q22-23.
Nature genetics 1996;13(1):114-6.
1996: van Vlijmen B J; van 't Hof H B; Mol M J; van der Boom H; van der Zee A; Frants R R; Hofker M H; Havekes L M
Modulation of very low density lipoprotein production and clearance contributes to age- and gender- dependent hyperlipoproteinemia in apolipoprotein E3-Leiden transgenic mice.
The Journal of clinical investigation 1996;97(5):1184-92.
1996: Bakker E; Van der Wielen M J; Voorhoeve E; Ippel P F; Padberg G W; Frants R R; Wijmenga C
Diagnostic, predictive, and prenatal testing for facioscapulohumeral muscular dystrophy: diagnostic approach for sporadic and familial cases.
Journal of medical genetics 1996;33(1):29-35.
1996: Hoffer M J; Bredie S J; Boomsma D I; Reymer P W; Kastelein J J; de Knijff P; Demacker P N; Stalenhoef A F; Havekes L M; Frants R R
The lipoprotein lipase (Asn291-->Ser) mutation is associated with elevated lipid levels in families with familial combined hyperlipidaemia.
Atherosclerosis 1996;119(2):159-67.
1996: Ophoff R A; Terwindt G M; Vergouwe M N; van Eijk R; Mohrenweiser H; Litt M; Hofker M H; Haan J; Ferrari M D; Frants R R
A 3-Mb region for the familial hemiplegic migraine locus on 19p13.1-p13.2: exclusion of PRKCSH as a candidate gene. Dutch Migraine Genetic Research Group.
European journal of human genetics : EJHG 1996;4(6):321-8.
1995: Haan J; Terwindt G M; Ophoff R A; Bos P L; Frants R R; Ferrari M D; Krommenhoek T; Lindhout D L; Sandkuyl L A; Van Eyk R
Is familial hemiplegic migraine a hereditary form of basilar migraine?
Cephalalgia : an international journal of headache 1995;15(6):477-81.
1995: van Ree J H; van den Broek W J; Dahlmans V E; Wieringa B; Frants R R; Havekes L M; Hofker M H
Variability in cholesterol content in serum and aortic tissue in apolipoprotein E-deficient mice is comparable in inbred (129/Sv) and outbred (mixed 129/Sv and C57BL/6) mice.
Atherosclerosis 1995;118(1):165-7.
1995: May A; Ophoff R A; Terwindt G M; Urban C; van Eijk R; Haan J; Diener H C; Lindhout D; Frants R R; Sandkuijl L A
Familial hemiplegic migraine locus on 19p13 is involved in the common forms of migraine with and without aura.
Human genetics 1995;96(5):604-8.
1995: van Dijk K W; Steketee K; Havekes L; Frants R; Hofker M
Genomic and cDNA cloning of a novel mouse lipoxygenase gene.
Biochimica et biophysica acta 1995;1259(1):4-8.
1995: van Ree J H; van den Broek W J; van der Zee A; Dahlmans V E; Wieringa B; Frants R R; Havekes L M; Hofker M H
Inactivation of Apoe and Apoc1 by two consecutive rounds of gene targeting: effects on mRNA expression levels of gene cluster members.
Human molecular genetics 1995;4(8):1403-9.
1995: Gruis N A; van der Velden P A; Sandkuijl L A; Prins D E; Weaver-Feldhaus J; Kamb A; Bergman W; Frants R R
Homozygotes for CDKN2 (p16) germline mutation in Dutch familial melanoma kindreds.
Nature genetics 1995;10(3):351-3.
1995: Tijssen M A; Shiang R; van Deutekom J; Boerman R H; Wasmuth J J; Sandkuijl L A; Frants R R; Padberg G W
Molecular genetic reevaluation of the Dutch hyperekplexia family.
Archives of neurology 1995;52(6):578-82.
1995: Gruis N A; Sandkuijl L A; van der Velden P A; Bergman W; Frants R R
CDKN2 explains part of the clinical phenotype in Dutch familial atypical multiple-mole melanoma (FAMMM) syndrome families.
Melanoma research 1995;5(3):169-77.
1995: Lombardi P; Sijbrands E J; van de Giessen K; Smelt A H; Kastelein J J; Frants R R; Havekes L M
Mutations in the low density lipoprotein receptor gene of familial hypercholesterolemic patients detected by denaturing gradient gel electrophoresis and direct sequencing.
Journal of lipid research 1995;36(4):860-7.
1995: van Ree J H; Hofker M H; van den Broek W J; van Deursen J M; van der Boom H; Frants R R; Wieringa B; Havekes L M
Increased response to cholesterol feeding in apolipoprotein C1-deficient mice.
The Biochemical journal 1995;305 ( Pt 3)():905-11.
1995: Brouwer O F; Padberg G W; Bakker E; Wijmenga C; Frants R R
Early onset facioscapulohumeral muscular dystrophy.
Muscle & nerve 1995;2():S67-72.
1995: Bakker E; Wijmenga C; Vossen R H; Padberg G W; Hewitt J; van der Wielen M; Rasmussen K; Frants R R
The FSHD-linked locus D4F104S1 (p13E-11) on 4q35 has a homologue on 10qter.
Muscle & nerve 1995;2():S39-44.
1995: van Deutekom J C; Hofker M H; Romberg S; van Geel M; Rommens J; Wright T J; Hewitt J E; Padberg G W; Wijmenga C; Frants R R
Search for the FSHD gene using cDNA selection in a region spanning 100 kb on chromosome 4q35.
Muscle & nerve 1995;2():S19-26.
1995: Wijmenga C; Dauwerse H G; Padberg G W; Meyer N; Murray J C; Mills K; van Ommen G B; Hofker M H; Frants R R
Fish mapping of 250 cosmid and 26 YAC clones to chromosome 4 with special emphasis on the FSHD region at 4q35.
Muscle & nerve 1995;2():S14-8.
1994: Zhao S P; Smelt A H; Van den Maagdenberg A M; Van Tol A; Vroom T F; Gevers Leuven J A; Frants R R; Havekes L M; Van der Laarse A; Van 't Hooft F M
Plasma lipoproteins in familial dysbetalipoproteinemia associated with apolipoproteins E2(Arg158-->Cys), E3-Leiden, and E2(Lys146-->Gln), and effects of treatment with simvastatin.
Arteriosclerosis and thrombosis : a journal of vascular biology / American Heart Association 1994;14(11):1705-16.
1994: van Ree J H; van den Broek W J; Dahlmans V E; Groot P H; Vidgeon-Hart M; Frants R R; Wieringa B; Havekes L M; Hofker M H
Diet-induced hypercholesterolemia and atherosclerosis in heterozygous apolipoprotein E-deficient mice.
Atherosclerosis 1994;111(1):25-37.
1994: Sijbrands E J; Westendorp R G; Hoffer M J; Havekes L M; Frants R R; Meinders A E; Frölich M; Smelt A H
Effect of insulin resistance, apoE2 allele, and smoking on combined hyperlipidemia.
Arteriosclerosis and thrombosis : a journal of vascular biology / American Heart Association 1994;14(10):1576-80.
1994: de Knijff P; van den Maagdenberg A M; Boomsma D I; Stalenhoef A F; Smelt A H; Kastelein J J; Marais A D; Frants R R; Havekes L M
Variable expression of familial dysbetalipoproteinemia in apolipoprotein E*2 (Lys146-->Gln) Allele carriers.
The Journal of clinical investigation 1994;94(3):1252-62.
1994: van der Zee A; Stas L; Hilleker C; van Leuven F; van Dijk K W; Havekes L; Frants R; Hofker M
Genomic cloning of the mouse LDL receptor related protein/alpha 2-macroglobulin receptor gene.
Genomics 1994;23(1):256-9.
1994: Ophoff R A; van Eijk R; Sandkuijl L A; Terwindt G M; Grubben C P; Haan J; Lindhout D; Ferrari M D; Frants R R
Genetic heterogeneity of familial hemiplegic migraine.
Genomics 1994;22(1):21-6.
1994: van Eck M M; Hoffer M J; Havekes L M; Frants R R; Hofker M H
The apolipoprotein C2-linked (Acl) gene: a new gene within the mouse apolipoprotein e-c1-c2 gene cluster.
Genomics 1994;21(1):110-5.
1994: van Deutekom J C; Bruyn R P; van den Boorn N; Sandkuijl L A; Padberg G W; Frants R R
Pure hereditary spastic paraparesis: an exclusion map covering more than 40% of the autosomal genome.
Human genetics 1994;93(4):408-14.
1994: van Vlijmen B J; van den Maagdenberg A M; Gijbels M J; van der Boom H; HogenEsch H; Frants R R; Hofker M H; Havekes L M
Diet-induced hyperlipoproteinemia and atherosclerosis in apolipoprotein E3-Leiden transgenic mice.
The Journal of clinical investigation 1994;93(4):1403-10.
1994: Brouwer O F; Padberg G W; Wijmenga C; Frants R R
Facioscapulohumeral muscular dystrophy in early childhood.
Archives of neurology 1994;51(4):387-94.
1994: Zhao S P; Van den Maagdenberg A M; Vroom T F; Van 't Hooft F M; Gevers Leuvens J A; Havekes L M; Frants R R; Van der Laarse A; Smelt A H
Lipoprotein profiles in a family with two mutants of apolipoprotein E: possible association with hypertriglyceridaemia but not with dysbetalipoproteinaemia.
Clinical science (London, England : 1979) 1994;86(3):323-9.
1994: Hennis B C; Frants R R; Bakker E; Vossen R H; van der Poort E W; Blonden L A; Cox S; Khan P M; Spurr N K; Kluft C
Evidence for the absence of intron H of the histidine-rich glycoprotein (HRG) gene: genetic mapping and in situ localization of HRG to chromosome 3q28-q29.
Genomics 1994;19(1):195-7.
1994: Wijmenga C; van Deutekom J C; Hewitt J E; Padberg G W; van Ommen G J; Hofker M H; Frants R R
Pulsed-field gel electrophoresis of the D4F104S1 locus reveals the size and the parental origin of the facioscapulohumeral muscular dystrophy (FSHD)-associated deletions.
Genomics 1994;19(1):21-6.
1994: de Knijff P; van den Maagdenberg A M; Frants R R; Havekes L M
Genetic heterogeneity of apolipoprotein E and its influence on plasma lipid and lipoprotein levels.
Human mutation 1994;4(3):178-94.
1993: Lombardi P; Mulder M; van der Boom H; Frants R R; Havekes L M
Inefficient degradation of triglyceride-rich lipoprotein by HepG2 cells is due to a retarded transport to the lysosomal compartment.
The Journal of biological chemistry 1993;268(35):26113-9.
1993: Lombardi P; Hoffer M J; Top B; de Wit E; Gevers Leuven J A; Frants R R; Havekes L M
An acceptor splice site mutation in intron 16 of the low density lipoprotein receptor gene leads to an elongated, internalization defective receptor.
Atherosclerosis 1993;104(1-2):117-28.
1993: van Deutekom J C; Wijmenga C; van Tienhoven E A; Gruter A M; Hewitt J E; Padberg G W; van Ommen G J; Hofker M H; Frants R R
FSHD associated DNA rearrangements are due to deletions of integral copies of a 3.2 kb tandemly repeated unit.
Human molecular genetics 1993;2(12):2037-42.
1993: Hoffer M J; van Eck M M; Havekes L M; Hofker M H; Frants R R
The mouse apolipoprotein C1 gene: structure and expression.
Genomics 1993;18(1):37-42.
1993: Wijmenga C; Wright T J; Baan M J; Padberg G W; Williamson R; van Ommen G J; Hewitt J E; Hofker M H; Frants R R
Physical mapping and YAC-cloning connects four genetically distinct 4qter loci (D4S163, D4S139, D4F35S1 and D4F104S1) in the FSHD gene-region.
Human molecular genetics 1993;2(10):1667-72.
1993: Wright T J; Wijmenga C; Clark L N; Frants R R; Williamson R; Hewitt J E
Fine mapping of the FSHD gene region orientates the rearranged fragment detected by the probe p13E-11.
Human molecular genetics 1993;2(10):1673-8.
1993: Wijmenga C; Frants R R; Hewitt J E; van Deutekom J C; van Geel M; Wright T J; Padberg G W; Hofker M H; van Ommen G J
Molecular genetics of facioscapulohumeral muscular dystrophy.
Neuromuscular disorders : NMD 1993;3(5-6):487-91.
1993: Wijmenga C; Winokur S T; Padberg G W; Skraastad M I; Altherr M R; Wasmuth J J; Murray J C; Hofker M H; Frants R R
The human skeletal muscle adenine nucleotide translocator gene maps to chromosome 4q35 in the region of the facioscapulohumeral muscular dystrophy locus.
Human genetics 1993;92(2):198-203.
1993: Gruis N A; Sandkuijl L A; Weber J L; van der Zee A; Borgstein A M; Bergman W; Frants R R
Linkage analysis in Dutch familial atypical multiple mole-melanoma (FAMMM) syndrome families. Effect of naevus count.
Melanoma research 1993;3(4):271-7.
1993: Gruis N A; Abeln E C; Bardoel A F; Devilee P; Frants R R; Cornelisse C J
PCR-based microsatellite polymorphisms in the detection of loss of heterozygosity in fresh and archival tumour tissue.
British journal of cancer 1993;68(2):308-13.
1993: Hoffer M J; van Eck M M; Havekes L M; Hofker M H; Frants R R
Structure and expression of the mouse apolipoprotein C2 gene.
Genomics 1993;17(1):45-51.
1993: Bruyn R P; van Deutekom J; Frants R R; Padberg G W
Hereditary spastic paraparesis. Clinical and genetic data from a large Dutch family.
Clinical neurology and neurosurgery 1993;95(2):125-9.
1993: Top B; van der Zee A; Havekes L M; van 't Hooft F M; Frants R R
Identification of a splice-site mutation in the low density lipoprotein receptor gene by denaturing gradient gel electrophoresis.
Human genetics 1993;91(5):480-4.
1993: Mulder M; Lombardi P; Jansen H; van Berkel T J; Frants R R; Havekes L M
Low density lipoprotein receptor internalizes low density and very low density lipoproteins that are bound to heparan sulfate proteoglycans via lipoprotein lipase.
The Journal of biological chemistry 1993;268(13):9369-75.
1993: 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
Transgenic mice carrying the apolipoprotein E3-Leiden gene exhibit hyperlipoproteinemia.
The Journal of biological chemistry 1993;268(14):10540-5.
1993: Mulder M; Smelt A H; Zhao S P; Frants R R; Havekes L M
Treatment of E2E2 homozygous familial dysbetalipoproteinemic subjects with gemfibrozil does not enhance the binding of their d < 1.019 lipoprotein fraction to the low-density lipoprotein receptor.
Metabolism: clinical and experimental 1993;42(3):327-33.
1993: Hoffer M J; van Eck M M; Petrij F; van der Zee A; de Wit E; Meijer D; Grosveld G; Havekes L M; Hofker M H; Frants R R
The mouse low density lipoprotein receptor gene: cDNA sequence and exon-intron structure.
Biochemical and biophysical research communications 1993;191(3):880-6.
1993: Brouwer O F; Wijmenga C; Frants R R; Padberg G W
Facioscapulohumeral muscular dystrophy: the impact of genetic research.
Clinical neurology and neurosurgery 1993;95(1):9-21.
1993: Hoffer M J; Hofker M H; van Eck M M; Havekes L M; Frants R R
Evolutionary conservation of the mouse apolipoprotein e-c1-c2 gene cluster: structure and genetic variability in inbred mice.
Genomics 1993;15(1):62-7.
1993: Wijmenga C; Hofker M H; Padberg G W; Frants R R
Genetic mapping of facioscapulohumeral muscular dystrophy.
Molecular and cell biology of human diseases series 1993;3():111-38.
1992: Top B; Uitterlinden A G; van der Zee A; Kastelein J J; Leuven J A; Havekes L M; Frants R R
Absence of mutations in the promoter region of the low density lipoprotein receptor gene in a large number of familial hypercholesterolaemia patients as revealed by denaturing gradient gel electrophoresis.
Human genetics 1992;89(5):561-5.
1992: Wijmenga C; Deaven L; Frants R R
Dinucleotide repeat polymorphism adjacent to the ANT1 gene on 4q35.
Nucleic acids research 1992;20(5):1161.
1991: de Knijff P; van den Maagdenberg A M; Stalenhoef A F; Leuven J A; Demacker P N; Kuyt L P; Frants R R; Havekes L M
Familial dysbetalipoproteinemia associated with apolipoprotein E3-Leiden in an extended multigeneration pedigree.
The Journal of clinical investigation 1991;88(2):643-55.
1991: Top B; van den Boorn N; van der Zee A; Havekes L M; Frants R R
Detection of allele-specific transcripts by the polymerase chain reaction (AST-PCR).
Biochemical and biophysical research communications 1991;178(3):1319-25.
1990: Wijmenga C; Frants R R; Brouwer O F; Moerer P; Weber J L; Padberg G W
Location of facioscapulohumeral muscular dystrophy gene on chromosome 4.
Lancet 1990;336(8716):651-3.
1990: Top B; Koeleman B P; Gevers Leuven J A; Havekes L M; Frants R R
Rearrangements in the LDL receptor gene in Dutch familial hypercholesterolemic patients and the presence of a common 4 kb deletion.
Atherosclerosis 1990;83(2-3):127-36.
1990: De Knijff P; Stalenhoef A F; Mol M J; Gevers Leuven J A; Smit J; Erkelens D W; Schouten J; Frants R R; Havekes L M
Influence of apo E polymorphism on the response to simvastatin treatment in patients with heterozygous familial hypercholesterolemia.
Atherosclerosis 1990;83(1):89-97.
1990: Lombardi P; de Wit E; Frants R R; Havekes L M
Characterisation of the LDL receptor in Epstein-Barr virus transformed lymphocytes.
Biochimica et biophysica acta 1990;1044(1):127-32.
1990: van den Berg E A; le Clercq E; Kooistra T; Frants R R; Bakker E
The human gene for plasminogen activator inhibitor 2 (PAI2) exhibits an EcoRI RFLP.
Nucleic acids research 1990;18(9):2837.
1990: van Eyk R; Chan L; Top B; Stalenhoef A F; Havekes L M; Frants R R
An additional MspI RFLP at the human hepatic lipase (HL) gene locus.
Nucleic acids research 1990;18(10):3110.
1990: Smit M; de Knijff P; van der Kooij-Meijs E; Groenendijk C; van den Maagdenberg A M; Gevers Leuven J A; Stalenhoef A F; Stuyt P M; Frants R R; Havekes L M
Genetic heterogeneity in familial dysbetalipoproteinemia. The E2(lys146----gln) variant results in a dominant mode of inheritance.
Journal of lipid research 1990;31(1):45-53.
1989: van den Maagdenberg A M; de Knijff P; Stalenhoef A F; Gevers Leuven J A; Havekes L M; Frants R R
Apolipoprotein E*3-Leiden allele results from a partial gene duplication in exon 4.
Biochemical and biophysical research communications 1989;165(2):851-7.
1989: van Haeringen A; Bergman W; Nelen M R; van der Kooij-Meijs E; Hendrikse I; Wijnen J T; Khan P M; Klasen E C; Frants R R
Exclusion of the dysplastic nevus syndrome (DNS) locus from the short arm of chromosome 1 by linkage studies in Dutch families.
Genomics 1989;5(1):61-4.
1989: Hofker M H; Nukiwa T; van Paassen H M; Nelen M; Kramps J A; Klasen E C; Frants R R; Crystal R G
A Pro----Leu substitution in codon 369 of the alpha-1-antitrypsin deficiency variant PI MHeerlen.
Human genetics 1989;81(3):264-8.
1988: de Knijff P; Rosseneu M; Beisiegel U; de Keersgieter W; Frants R R; Havekes L M
Apolipoprotein A-IV polymorphism and its effect on plasma lipid and apolipoprotein concentrations.
Journal of lipid research 1988;29(12):1621-7.
1988: Smit M; de Knijff P; Rosseneu M; Bury J; Klasen E; Frants R; Havekes L
Apolipoprotein E polymorphism in The Netherlands and its effect on plasma lipid and apolipoprotein levels.
Human genetics 1988;80(3):287-92.
1988: Hofker M H; Nelen M; Klasen E C; Nukiwa T; Curiel D; Crystal R G; Frants R R
Cloning and characterization of an alpha 1-antitrypsin like gene 12 KB downstream of the genuine alpha 1-antitrypsin gene.
Biochemical and biophysical research communications 1988;155(2):634-42.
1988: Smit M; van der Kooij-Meijs E; Woudt L P; Havekes L M; Frants R R
Exact localization of the familial dysbetalipoproteinemia associated HpaI restriction site in the promoter region of the APOC1 gene.
Biochemical and biophysical research communications 1988;152(3):1282-8.
1988: Smit M; van der Kooij-Meijs E; Frants R R; Havekes L; Klasen E C
Apolipoprotein gene cluster on chromosome 19. Definite localization of the APOC2 gene and the polymorphic Hpa I site associated with type III hyperlipoproteinemia.
Human genetics 1988;78(1):90-3.
1988: Havekes L M; de Knijff P; Smit M; Frants R R
The effect of apolipoprotein E allele substitutions on plasma lipid and apolipoprotein levels.
Advances in experimental medicine and biology 1988;243():87-93.
1988: Smit M; de Knijff P; Sijts A; Klasen E C; Frants R R; Havekes L M
Rare apolipoprotein E variant cosegregating with a unique APOE-C1-C2 haplotype in a normolipidemic family.
Human heredity 1988;38(5):277-82.
1987: Klasen E C; Hofker M H; van Paassen H M; Verlaan-de Vries M; Bos J L; Frants R R
Detection of alpha-1-antitrypsin deficiency variants by synthetic oligonucleotide hybridization.
Clinica chimica acta; international journal of clinical chemistry 1987;170(2-3):201-7.
1987: Smit M; de Knijff P; Frants R R; Klasen E C; Havekes L M
Familial dysbetalipoproteinemic subjects with the E3/E2 phenotype exhibit an E2 isoform with only one cysteine residue.
Clinical genetics 1987;32(5):335-41.

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