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Results: 1-25 | 26-43
Results: 1-25/43
A mutation in SLC11A3 is associated with autosomal dominant hemochromatosis
Authors: Njajou, OT Vaessen, N Joosse, M Berghuis, B van Dongen, JWF Breuning, MH Snijders, PJLM Rutten, WPF Sandkuijl, LA Oostra, BA van Duijn, CM Heutink, P
Citation: Ot. Njajou et al., A mutation in SLC11A3 is associated with autosomal dominant hemochromatosis, NAT GENET, 28(3), 2001, pp. 213-214
X-linked recessive inheritance of radial ray deficiencies in a family withfour affected males
Authors: Galjaard, RJH Kostakoglu, N Hoogeboom, JJM Breedveld, GJ van der Linde, HC Hovius, SER Oostra, BA Sandkuijl, LA Akarsu, AN Heutink, P
Citation: Rjh. Galjaard et al., X-linked recessive inheritance of radial ray deficiencies in a family withfour affected males, EUR J HUM G, 9(9), 2001, pp. 653-658
Instability of a (CGG)(98) repeat in the Fmr1 promoter
Authors: Bontekoe, CJM Bakker, CE Nieuwenhuizen, IM van der Linde, H Lans, H de Lange, D Hirst, MC Oostra, BA
Citation: Cjm. Bontekoe et al., Instability of a (CGG)(98) repeat in the Fmr1 promoter, HUM MOL GEN, 10(16), 2001, pp. 1693-1699
Hemimelic extra toes and Hammer toe are distinct mutations that show a genetic interaction
Authors: Heus, HC Luijsterburg, AJM van Baren, MJ Breedveld, GJ Joosse, MN Nieuwenhuizen, IM Vermeij-Keers, C Oostra, BA Heutink, P
Citation: Hc. Heus et al., Hemimelic extra toes and Hammer toe are distinct mutations that show a genetic interaction, MAMM GENOME, 12(1), 2001, pp. 77-79
CYP2D6 polymorphism in Parkinson's disease: The Rotterdam study
Authors: Harhangi, BS Oostra, BA Heutink, P van Duijn, CM Hofman, A Breteler, MMB
Citation: Bs. Harhangi et al., CYP2D6 polymorphism in Parkinson's disease: The Rotterdam study, MOVEMENT D, 16(2), 2001, pp. 290-293
Subcellular localization of fragile X mental retardation protein with the I304N mutation in the RNA-binding domain in cultured hippocampal neurons
Authors: Castren, M Haapasalo, A Oostra, BA Castren, E
Citation: M. Castren et al., Subcellular localization of fragile X mental retardation protein with the I304N mutation in the RNA-binding domain in cultured hippocampal neurons, CELL MOL N, 21(1), 2001, pp. 29-38
Spatial learning, contextual fear conditioning and conditioned emotional response in Fmr1 knockout mice (vol 117, pg 127, 2000)
Authors: Van Dam, D D'Hooge, R Hauben, E Reyniers, E Gantois, I Bakker, CE Oostra, BA Kooy, RF De Deyn, PP
Citation: D. Van Dam et al., Spatial learning, contextual fear conditioning and conditioned emotional response in Fmr1 knockout mice (vol 117, pg 127, 2000), BEH BRA RES, 126(1-2), 2001, pp. 219-219
Differences in complexity of isolated brachydactyly type C cannot be attributed to locus heterogeneity alone
Authors: Galjaard, RJH van der Ham, LI Posch, NAS Dijkstra, PF Oostra, BA Hovius, SER Timmenga, EJF Sonneveld, GJ Hoogeboom, AJM Heutink, P
Citation: Rjh. Galjaard et al., Differences in complexity of isolated brachydactyly type C cannot be attributed to locus heterogeneity alone, AM J MED G, 98(3), 2001, pp. 256-262
A polymorphism in the gene for IGF-I - Functional properties and risk for type 2 diabetes and myocardial infarction
Authors: Vaessen, N Heutink, P Janssen, JA Witteman, JCM Testers, L Hofman, A Lamberts, SWJ Oostra, BA Pols, HAP van Duijn, CM
Citation: N. Vaessen et al., A polymorphism in the gene for IGF-I - Functional properties and risk for type 2 diabetes and myocardial infarction, DIABETES, 50(3), 2001, pp. 637-642
Fragile X syndrome at the turn of the century
Authors: Kooy, RF Willemsen, R Oostra, BA
Citation: Rf. Kooy et al., Fragile X syndrome at the turn of the century, MOL MED TOD, 6(5), 2000, pp. 193-198
Genetics of mental retardation
Authors: Chiurazzi, P Oostra, BA
Citation: P. Chiurazzi et Ba. Oostra, Genetics of mental retardation, CURR OP PED, 12(6), 2000, pp. 529-535
The fragile X-related proteins FXR1P and FXR2P contain a functional nucleolar-targeting signal equivalent to the HIV-1 regulatory proteins
Authors: Tamanini, F Kirkpatrick, LL Schonkeren, J van Unen, L Bontekoe, C Bakker, C Nelson, DL Galjaard, H Oostra, BA Hoogeveen, AT
Citation: F. Tamanini et al., The fragile X-related proteins FXR1P and FXR2P contain a functional nucleolar-targeting signal equivalent to the HIV-1 regulatory proteins, HUM MOL GEN, 9(10), 2000, pp. 1487-1493
Absence of a PDX-1 mutation and normal gastroduodenal immunohistology in achild with pancreatic agenesis
Authors: Verwest, AM Poelman, M Dinjens, WNM Batstra, MR Oostra, BA Lequin, MH Larsson, LI Aanstoot, HJ Bruining, GJ de Krijger, RR
Citation: Am. Verwest et al., Absence of a PDX-1 mutation and normal gastroduodenal immunohistology in achild with pancreatic agenesis, VIRCHOWS AR, 437(6), 2000, pp. 680-684
The fragile X syndrome: A model for mental retardation
Authors: de Vries, BBA Oostra, BA
Citation: Bba. De Vries et Ba. Oostra, The fragile X syndrome: A model for mental retardation, NEUROSC R C, 26(3), 2000, pp. 255-263
Introduction of a FMR1 transgene in the fragile X knockout mouse.
Authors: Bakker, CE Kooy, RF D'Hooge, R Tamanini, F Willemsen, R Nieuwenhuizen, I De Vries, BBA Reyniers, E Hoogeveen, AT Willems, PJ De Deyn, PP Oostra, BA
Citation: Ce. Bakker et al., Introduction of a FMR1 transgene in the fragile X knockout mouse., NEUROSC R C, 26(3), 2000, pp. 265-277
A fragile X case with an amplification/deletion mosaic pattern
Authors: Arocena, DG de Diego, Y Oostra, BA Willemsen, R Rodriguez, MM
Citation: Dg. Arocena et al., A fragile X case with an amplification/deletion mosaic pattern, HUM GENET, 106(3), 2000, pp. 366-369
Spatial learning, contextual fear conditioning and conditioned emotional response in Fmr1 knockout mice
Authors: Van Dam, D D'Hooge, R Hauben, E Reyniers, E Gantois, I Bakker, CE Oostra, BA Kooy, RF De Deyn, PP
Citation: D. Van Dam et al., Spatial learning, contextual fear conditioning and conditioned emotional response in Fmr1 knockout mice, BEH BRA RES, 117(1-2), 2000, pp. 127-136
FMRP detection assay for the diagnosis of the fragile X syndrome
Authors: Willemsen, R Oostra, BA
Citation: R. Willemsen et Ba. Oostra, FMRP detection assay for the diagnosis of the fragile X syndrome, AM J MED G, 97(3), 2000, pp. 183-188
Twin sisters, monozygotic with the fragile X mutation, but with a different phenotype
Authors: Willemsen, R Olmer, R Otero, YD Oostra, BA
Citation: R. Willemsen et al., Twin sisters, monozygotic with the fragile X mutation, but with a different phenotype, J MED GENET, 37(8), 2000, pp. 603-604
Immunocytochemical and biochemical characterization of FMRP, FXR1P, and FXR2P in the mouse
Authors: Bakker, CE Otero, YD Bontekoe, C Raghoe, P Luteijn, T Hoogeveen, AT Oostra, BA Willemsen, R
Citation: Ce. Bakker et al., Immunocytochemical and biochemical characterization of FMRP, FXR1P, and FXR2P in the mouse, EXP CELL RE, 258(1), 2000, pp. 162-170
Audiogenic seizures susceptibility in transgenic mice with fragile X syndrome
Authors: Musumeci, SA Bosco, P Calabrese, G Bakker, C De Sarro, GB Elia, M Ferri, R Oostra, BA
Citation: Sa. Musumeci et al., Audiogenic seizures susceptibility in transgenic mice with fragile X syndrome, EPILEPSIA, 41(1), 2000, pp. 19-23
Premature ovarian failure is associated with maternally and paternally inherited premutation in Brazilian families with fragile X - Reply
Authors: Hundscheid, RDL Thomas, CMG Braat, DDM Oostra, BA Smits, APT
Citation: Rdl. Hundscheid et al., Premature ovarian failure is associated with maternally and paternally inherited premutation in Brazilian families with fragile X - Reply, AM J HU GEN, 67(1), 2000, pp. 256-258
Imprinting effect in premature ovarian failure confined to paternally inherited fragile X premutations
Authors: Hundscheid, RDL Sistermans, EA Thomas, CMG Braat, DDM Straatman, H Kiemeney, LALM Oostra, BA Smits, APT
Citation: Rdl. Hundscheid et al., Imprinting effect in premature ovarian failure confined to paternally inherited fragile X premutations, AM J HU GEN, 66(2), 2000, pp. 413-418
Neuroanatomy of the fragile X knockout mouse brain studied using in vivo high resolution magnetic resonance imaging
Authors: Kooy, RF Reyniers, E Verhoye, M Sijbers, J Bakker, CE Oostra, BA Willems, PJ Van der Linden, A
Citation: Rf. Kooy et al., Neuroanatomy of the fragile X knockout mouse brain studied using in vivo high resolution magnetic resonance imaging, EUR J HUM G, 7(5), 1999, pp. 526-532
Different targets for the fragile X-related proteins revealed by their distinct nuclear localizations
Authors: Tamanini, F Bontekoe, C Bakker, CE van Unen, L Anar, B Willemsen, R Yoshida, M Galjaard, H Oostra, BA Hoogeveen, AT
Citation: F. Tamanini et al., Different targets for the fragile X-related proteins revealed by their distinct nuclear localizations, HUM MOL GEN, 8(5), 1999, pp. 863-869
Risultati: 1-25 | 26-43