Publications 2005


Department of Human Genetics


2005

Publicaties in ref. tijdschriften
Buslov KG, Iyevleva AG, Chekmariova EV, Suspitsin EN, Togo AV, Kuligina ES, Sokolenko AP, Matsko DE, Turkevich EA, Lazareva YR, Chagunava OL, Bit-Sava EM, Semiglazov VF, Devilee P, Cornelisse C, Hanson KP, Imyanitov EN. NBS1 657del5 mutation may contribute only to a limited fraction of breast cancer cases in Russia. Int J Cancer, …

Buzhov BT, Lemmers RJ, Tournev I, Dikova C, Kremensky I, Petrova J, Frants RR, van der Maarel SM. Genetic confirmation of facioscapulohumeral muscular dystrophy in a case with complex D4Z4 rearrangments. Hum Genet, 116: 262-266, 2005.

Buzhov BT, Lemmers RJ, Tournev I, van der Wielen MJ, Ishpekova B, Oetkov R, Petrova J, Frants RR, Padberg GW, van der Maarel SM. Recurrent somatic mosaicism for D4Z4 contractions in a family with facioscapulohumeral muscular dystrophy. Neuromuscul Disord, 15: 471-475, 2005.

Callenbach PM, van den Boogerd EH, de Coo RF, ten Houten R, Oosterwijk JC, Hageman G, Frants RR, Brouwer OF, van den Maagdenberg AM. Refinement of the chromosome 16 locus for benign familial infantile convulsions. Clin Genet, 67: 517-525, 2005.

Callenbach PM, van den Maagdenberg AM, Frants RR, Brouwer OF. Clinical and genetic aspects of idiopathic epilepsies in childhood. Eur J Paediatr Neurol, 9: 91-103, 2005.

Haan J, Kors EE, Vanmolkot KR, van den Maagdenberg AM, Frants RR, Ferrari MD. Migraine genetics: an update. Curr Pain Headache Rep, 9: 213-220, 2005.

Hoya M de la, Meijers-Heijboer H, Fernandez JM, Diez O, Osorio A, Alonso C, van Leeuwen I, Diaz-Rubio E, Cornelisse C, Benitez J, Devilee P, Caldes T. Mutant BRCA1 alleles transmission: different approaches and different biases. Int J Cancer, 113: 166-167, 2005.

Huang Y, Verheesen P, Roussis A, Frankhuizen W, Ginjaar I, Haldane F, LAval S, Anderson LV, Verrips T, Frants RR, de Haard H, Bushby K, den Dunnen J, van der Maarel. Protein studies in dysferlinopathy patients using llama-derived antibody fragments selected by phage display. Eur J Hum Genet, 13: 721-730, 2005.

Kaja S, van de Ven RC, Broos LA, Veldman H, van Dijk JG, Verschuuren JJ, Frants RR, Ferrari MD, van den Maagdenberg AM, Plomp JJ. 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, 135: 81-95, 2005.

Kreeft AJ, Moen CJ, Porter G, Kasanmoentalib S, Sverdlov R, van Gorp PJ, Havekes LM, Frants RR, Hofker MH. 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 182: 249-257, 2005.

Krom YD, Gras JCE, Frants RR, Havekes LM, van Berkel TJ, Biessen EAL, Willems van Dijk K. Efficient targeting of adenoviral vectors to integrin positive vascular cells utilizing a CAR-cyclic RGD linker protein. Biochm Biophys Res Commun, ….

Kypreos KE, van Dijk KW, Havekes LM, Zannis VI. Generation of a recombinant apolipoprotein E variant with improved biological functions: Hydrophobic residues (L261, W264, F265, L268, V269) of apoe can account for the apoe-induced hypertriglyceridemia. Hum Genet, …

Majdak EJ, De Bock GH, Brozek I, Perkowska M, Ochman K, Debniak J, Milczek T, Cornelisse CJ, Jassem J, Emerich J, Limon J, Devilee P. Prevalence and clinical correlations of BRCA1/BRCA2 unclassified variant carriers among unselected primary ovarian cancer cases - preliminary report. Eur J Cancer, 41: 143-150, 2005.

Maarel van der SM, Frants RR. The D4Z4 repeat-mediated pathogenesis of facioscapulohumeral muscular dystrophy. Am J Hum Genet, 76: 375-386, 2005.

Monraats PS, Pires NM, Agema WR, Zwinderman AH, Schepers A, de Maat MP, Doevendans PA, de Winter RJ, Tio RA, Waltenberger J, Frants RR, Quax PH, van Vlijmen BJ, Atsema DE, van der Laarse A, van der Wall EE, Jukema JW. Genetic inflammatory factors predict restenosis after percutaneous coronary interventions. Circulation, 112: 2417-2425, 2005.

Monraats PS, Rana JS, Nierman MC, Pires NM, Zwinderman AH, Kastelein JJ, Kuivenhoven JA, de Maat MP, Rittersma SZ, Schepers A, Doevendans PA, de Winter RJ, Tio RA, Frants RR, Quax PH, van der Laarse A, van der Wall EE, Jukema JW. Lipoprotein lipase gene polymorphisms and the risk of target vessel revascularization after percutaneous coronary intervention. J Am Coll Cardiol, 46: 1093-1100, 2005.

Monraats PS, Rana JS, Zwinderman AH, de Maat MP, Kastelein JJ, Agema WR, Doevendans PA, de Winter RJ, Tio RA, Waltenberger J, Frants RR, van der Laarse A, van der Wall EE, Jukema JW. 455G/A polymorphism and preprocedural plasma levels of fibrinogen show no association with the risk of clinical restenosis in patients with coronary stent placement. Thromb Haemost, 93: 564-569, 2005.

Nagtegaal ID, Gaspar CG, Peltenburg LT, Marijnen CA, Kapiteijn E, van de Velde CJ, Fodde R, van Krieken JH. Radiation induces different changes in expression profiles of normal rectal tissue compared with rectal carcinoma. Virchows Arch, ….

Ommen GJB van. The human genome, revisited. Eur J Hum Genet, 13: 265-267, 2005.

Ommen GJB van. Frequency of new copy number variation in humans. Nat Genet, 37: 333-334, 2005.

Overveld van PG, Enthoven L, Ricci E, Rossi M, Felicetti L, jeanpierre M, Winokur ST, Frants RR, Padberg GW, van der Maarel SM. Variable hypomethylation of D4Z4 in facioscapulohumeral muscular dystrophy. Ann Neurol, 58: 569-576, 2005.

Rana JS, Monraats PS, Zwinderman AH, de Maat MP, Kastelein JJ, Agema WR, Doevendans PA, de Winter RJ, Tio RA, Waltenberger J, Frants RR, Quax PH, van der Laarse A, van der Wall EE, Jukema JW. Metabolic syndrome and risk of restenosis in patients undergoing percutaneous coronary intervention. Diabetes Care, 28: 873-877, 2005.

Roelfsema JH, White SJ, Ariyurek Y, Bartholdi D, Niedrist D, Papadia F, Bacino CA, den Dunnen JT, van Ommen GJ, Breuning MH, Hennekam RC, Peters DJ. Genetic Heterogeneity in Rubinstein-Taybi Syndrome: Mutations in Both the CBP and EP300 Genes Cause Disease. Am J Hum Genet, 76: 572-580, 2005.

Roewer L, Croucher PJ, Willuweit S, Lu TT, Kayser M, Lessig R, de Knijff P, Jobling MA, Tyler-Smith C, Krawczak M. Signature of recent historical events in the European Y-chromosomal STR haplotype distribution. Hum Genet, …

Stam AH, Haan J, Frants RR, Ferrari MD, van den Maagdenberg AM. Migraine: new treatment options from molecular biology. Expert Rev Neurother 5: 653-661, 2005.

Vink GR, White SJ, Gabelic S, Hogendoorn PC, Breuning MH, Bakker E. Mutation screening of EXT1 and EXT2 by direct sequence analysis and MLPA in patients with multiple osteochondromas: splice site mutations and exonic deletions account for more than half of the mutations. Eur J Hum Genet, …

Proefschriften
Aartsma-Rus AM. Development of an antisense-mediated exon skipping therapy for Duchenne muscular dystrophy.
10 februari 2005
Promotor: GJB van Ommen
Co-promotoren: JCT van Deutekom, JT den Dunnen

Hottenga JJ. Genetic epidemiological approaches in complex neurological disorders.
10 november 2005
Promotoren: RR Frants, CM van Duijn
Co-promotor: AMJM van den Maagdenberg

Koningsbruggen S van. Characterization of FSHD candidate genes. Functional analysis of FRG1.
17 mei 2005
Promotoren: RR Frants, GW Padberg
Co-promotor: SM van der Maarel

Lemmers RJLF. Rearrangements in the FSHD locus: mechanism, timing and consequences.
15 juni 2005
Promotoren: RR Frants, GW Padberg
Co-promotor: SM van der Maarel

Overveld PGM van. Genetic and epigenetic studies of the FSHD-associated D4Z4-repeat.
27 april 2005
Promotoen: RR Frants, GW Padberg
Co-promotor: SM van der Maarel

Vrins CJ. Modulation of gene expression in the liver: towards targeted correction of hyperlipidemia.
6 april 2005
Promotor: Th.J.C. van Berkel
Co-promotor: JAP Willems van Dijk, E.A.L. Biessen

Wagner A. HNPCC, molecular and clinical dilemma.
27 april 2005
Promotor: R Fodde, H Meijers-Heijboer
Co-promotor:

White SJ. Detecting copy number changes in genomic DNA – MAPH and MLPA.
3 februari 2005
Promotoren: MH Breuning, GJB van Ommen
Co-promotor: JT den Dunnen

Yavarian M. Hemoglobinopathies in Iran. Molecular spectrum, prevention and treatment.
26 januari 2005
Promotor: E Bakker.
Co-promotor: PC Giordano