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Results: 1-25/38
Authors:
van Geel, M
Eichler, EE
Beck, AF
Shan, ZH
Haaf, T
van der Maarel, SM
Frants, RR
de Jong, PJ
Citation: M. Van Geel et al., A cascade of complex subtelomeric duplications during the evolution of thehominoid and old world monkey genomes, AM J HU GEN, 70(1), 2002, pp. 269-278
Authors:
Leegwater, PAJ
Vermeulen, G
Konst, AAM
Naidu, S
Mulders, J
Visser, A
Kersbergen, P
Mobach, D
Fonds, D
van Berkel, CGM
Lemmers, RJLF
Frants, RR
Oudejans, CBM
Schutgens, RBH
Pronk, JC
van der Knaap, MS
Citation: Paj. Leegwater et al., Subunits of the translation initiation factor eIF2B are mutant in leukoencephalopathy with vanishing white matter, NAT GENET, 29(4), 2001, pp. 383-388
Authors:
Tacken, PJ
van der Zee, A
Beumer, TL
Florijn, RJ
Gijpels, MJJ
Havekes, LM
Frants, RR
van Dijk, KW
Hofker, MH
Citation: Pj. Tacken et al., Effective generation of very low density lipoprotein receptor transgenic mice by overlapping genomic DNA fragments: high testis expression and disturbed spermatogenesis, TRANSGEN RE, 10(3), 2001, pp. 211-221
Authors:
Beckers, MC
Gabriels, J
van der Maarel, S
De Vriese, A
Frants, RR
Collen, D
Belayew, A
Citation: Mc. Beckers et al., Active genes in junk DNA? Characterization of DUX genes embedded within 3.3 kb repeated elements, GENE, 264(1), 2001, pp. 51-57
Authors:
Lernmers, RJLF
de Kievit, P
van Geel, M
van der Wielen, MJR
Bakker, E
Padberg, GW
Frants, RR
van der Maarel, SM
Citation: Rjlf. Lernmers et al., Complete allele information in the diagnosis of facioscapulohumeral muscular dystrophy by triple DNA analysis, ANN NEUROL, 50(6), 2001, pp. 816-819
Authors:
Kors, EE
Terwindt, GM
Vermeulen, FLMG
Fitzsimons, RB
Jardine, PE
Heywood, P
Love, S
van den Maagdenberg, AMJM
Haan, J
Frants, RR
Ferrari, MD
Citation: Ee. Kors et al., Delayed cerebral edema and fatal coma after minor head trauma: Role of theCACNA1A calcium channel subunit gene and relationship with familial hemiplegic migraine, ANN NEUROL, 49(6), 2001, pp. 753-760
Authors:
Terwindt, GM
Ophoff, RA
van Eijk, R
Vergouwe, MN
Haan, J
Frants, RR
Sandkuijl, LA
Ferrari, MD
Citation: Gm. Terwindt et al., Involvement of the CACNA1A gene containing region on 19p13 in migraine with and without aura, NEUROLOGY, 56(8), 2001, pp. 1028-1032
Authors:
Beekman, M
Lakenburg, N
Cherny, SS
De Knijff, P
Kluft, CC
Van Ommen, GJB
Vogler, GP
Frants, RR
Boomsma, DI
Slagboom, PE
Citation: M. Beekman et al., A powerful and rapid approach to human genome scanning using small quantities of genomic DNA, GENET RES, 77(2), 2001, pp. 129-134
Authors:
Ophoff, RA
van den Maagdenberg, AMJM
Roon, KI
Ferrari, MD
Frants, RR
Citation: Ra. Ophoff et al., The impact of pharmacogenetics for migraine, EUR J PHARM, 413(1), 2001, pp. 1-10
Authors:
van der Velden, PA
Metzelaar-Blok, JAW
Bergman, W
Hurks, HMH
Frants, RR
Gruis, NA
Jager, MJ
Citation: Pa. Van Der Velden et al., Promoter hypermethylation: A common cause of reduced p16(INK4a) expressionin uveal melanoma, CANCER RES, 61(13), 2001, pp. 5303-5306
Authors:
van der Velden, PA
Sandkuijl, LA
Bergman, W
Pavel, S
van Mourik, L
Frants, RR
Gruis, NA
Citation: Pa. Van Der Velden et al., Melanocortin-1 receptor variant R151C modifies melanoma risk in Dutch families with melanoma, AM J HU GEN, 69(4), 2001, pp. 774-779
Authors:
Ophoff, RA
DeYoung, J
Service, SK
Joose, M
Caffo, NA
Sandkuijl, LA
Terwindt, GM
Haan, J
van den Maagdenberg, AMJM
Jen, J
Baloh, RW
Barilla-LaBarca, ML
Saccone, NL
Atkinson, JP
Ferrari, MD
Freimer, NB
Frants, RR
Citation: Ra. Ophoff et al., Hereditary vascular retinopathy, cerebroretinal vasculopathy, and hereditary endotheliopathy with retinopathy, nephropathy, and stroke map to a single locus on chromosome 3p21.1-p21.3, AM J HU GEN, 69(2), 2001, pp. 447-453
Authors:
Leegwater, PAJ
Yuan, BQ
van der Steen, J
Mulders, J
Konst, AAM
Boor, PKI
Mejaski-Bosnjak, V
van der Maarel, S
Frants, RR
Oudejans, CBM
Schutgens, RBH
Pronk, JC
van der Knaap, MS
Citation: Paj. Leegwater et al., Mutations of MLC1 (KIAA0027), encoding a putative membrane protein, cause megalencephalic leukoencephalopathy with subcortical cysts, AM J HU GEN, 68(4), 2001, pp. 831-838
Authors:
Guida, S
Trettel, F
Pagnutti, S
Mantuano, E
Tottene, A
Veneziano, L
Fellin, T
Spadaro, M
Stauderman, KA
Williams, ME
Volsen, S
Ophoff, RA
Frants, RR
Jodice, C
Frontali, M
Pietrobon, D
Citation: S. Guida et al., Complete loss of P/Q calcium channel activity caused by a CACNA1A missensemutation carried by patients with episodic ataxia type 2, AM J HU GEN, 68(3), 2001, pp. 759-764
Authors:
van Overveld, PGM
Lemmers, RJFL
Deidda, G
Sandkuijl, L
Padberg, GW
Frants, RR
van der Maarel, SM
Citation: Pgm. Van Overveld et al., Interchromosomal repeat array interactions between chromosomes 4 and 10: amodel for subtelomeric plasticity, HUM MOL GEN, 9(19), 2000, pp. 2879-2884
Authors:
Haan, J
Kors, EE
Terwindt, GM
Vermeulen, FLMG
Vergouwe, MN
van den Maagdenberg, AMJM
Gill, DS
Pascual, J
Ophoff, RA
Frants, RR
Ferrari, MD
Citation: J. Haan et al., Alternating hemiplegia of childhood: no mutations in the familial hemiplegic migraine CACNA1A gene, CEPHALALGIA, 20(8), 2000, pp. 696-700
Authors:
van Geel, M
van Deutekom, JCT
van Staalduinen, A
Lemmers, RJLF
Dickson, MC
Hofker, MH
Padberg, GW
Hewitt, JE
de Jong, PJ
Frants, RR
Citation: M. Van Geel et al., Identification of a novel beta-tubulin subfamily with one member (TUBB4Q) located near the telomere of chromosome region 4q35, CYTOG C GEN, 88(3-4), 2000, pp. 316-321
Authors:
Hoffer, MJV
Snieder, H
Bredie, SJH
Demacker, PNM
Kastelein, JJP
Frants, RR
Stalenhoef, AFH
Citation: Mjv. Hoffer et al., The V73M mutation in the hepatic lipase gene is associated with elevated cholesterol levels in four Dutch pedigrees with familial combined hyperlipidemia, ATHEROSCLER, 151(2), 2000, pp. 443-450
Authors:
Sijbrands, EJG
Westendorp, RGJ
Lombardi, MP
Havekes, LM
Frants, RR
Kastelein, JJP
Smelt, AHM
Citation: Ejg. Sijbrands et al., Additional risk factors influence excess mortality in heterozygous familial hypercholesterolaemia, ATHEROSCLER, 149(2), 2000, pp. 421-425
Authors:
Vasen, HFA
Gruis, NA
Frants, RR
van der Velden, PA
Hille, ETM
Bergman, W
Citation: Hfa. Vasen et al., Risk of developing pancreatic cancer in families with familial atypical multiple mole melanoma associated with a specific 19 deletion of p16 (p16-Leiden), INT J CANC, 87(6), 2000, pp. 809-811
Authors:
Plomp, JJ
Vergouwe, MN
Van den Maagdenberg, AM
Ferrari, MD
Frants, RR
Molenaar, PC
Citation: Jj. Plomp et al., Abnormal transmitter release at neuromuscular junctions of mice carrying the tottering alpha(1A) Ca2+ channel mutation, BRAIN, 123, 2000, pp. 463-471
Authors:
de Graaf, J
Hoffer, MJV
Stuyt, PMJ
Frants, RR
Stalenhoef, AFH
Citation: J. De Graaf et al., 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-CIVNijmegen, BIOC BIOP R, 273(3), 2000, pp. 1084-1087
Authors:
van der Maarel, SM
Deidda, G
Lemmers, RJLF
van Overveld, PGM
van der Wielen, M
Hewitt, JE
Sandkuijl, L
Bakker, B
van Ommen, GJB
Padberg, GW
Frants, RR
Citation: Sm. Van Der Maarel et al., De novo facioscapulohumeral muscular dystrophy: Frequent somatic mosaicism, sex-dependent phenotype, and the role of mitotic transchromosomal repeat interaction between chromosomes 4 and 10, AM J HU GEN, 66(1), 2000, pp. 26-35
Authors:
van der Velden, PA
Sandkuijl, LA
Bergman, W
Hille, ETM
Frants, RR
Gruis, NA
Citation: Pa. Van Der Velden et al., A locus linked to p16 modifies melanoma risk in Dutch familial atypical multiple mole melanoma (FAMMM) syndrome families, GENOME RES, 9(6), 1999, pp. 575-580
Authors:
Gruis, NA
van der Velden, PA
Bergman, W
Frants, RR
Citation: Na. Gruis et al., Familial melanoma; CDKN2A and beyond, J INV D SYM, 4(1), 1999, pp. 50-54