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Results: 1-24 |
Results: 24
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
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
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
Familial frontotemporal dementia with ubiquitin-positive inclusions is linked to chromosome 17q2l-22
Authors: Rosso, SM Kamphorst, W de Graaf, B Willemsen, R Ravid, R Niermeijer, MF Spillantini, MG Heutink, P van Swieten, JC
Citation: Sm. Rosso et al., Familial frontotemporal dementia with ubiquitin-positive inclusions is linked to chromosome 17q2l-22, BRAIN, 124, 2001, pp. 1948-1957
Molecular analysis of mutant and wild-type tau deposited in the brain affected by the FTDP-17 R406W mutation
Authors: Miyasaka, T Morishima-Kawashima, M Ravid, R Heutink, P van Swieten, JC Nagashima, K Ihara, Y
Citation: T. Miyasaka et al., Molecular analysis of mutant and wild-type tau deposited in the brain affected by the FTDP-17 R406W mutation, AM J PATH, 158(2), 2001, pp. 373-379
The primary erythermalgia-susceptibility gene is located on chromosome 2q31-32
Authors: Drenth, JPH Finley, WH Breedveld, GJ Testers, L Michiels, JJ Guillet, G Taieb, A Kirby, RL Heutink, P
Citation: Jph. Drenth et al., The primary erythermalgia-susceptibility gene is located on chromosome 2q31-32, AM J HU GEN, 68(5), 2001, pp. 1277-1282
Acheiropodia is caused by a genomic deletion in C7orf2, the human orthologue of the Lmbr1 gene
Authors: Ianakiev, P van Baren, MJ Daly, MJ Toledo, SPA Cavalcanti, MG Neto, JC Silveira, EL Freire-Maia, A Heutink, P Kilpatrick, MW Tsipouras, P
Citation: P. Ianakiev et al., Acheiropodia is caused by a genomic deletion in C7orf2, the human orthologue of the Lmbr1 gene, AM J HU GEN, 68(1), 2001, pp. 38-45
Untangling tau-related dementia
Authors: Heutink, P
Citation: P. Heutink, Untangling tau-related dementia, HUM MOL GEN, 9(6), 2000, pp. 979-986
Mutation-dependent aggregation of tau protein and its selective depletion from the soluble fraction in brain of P301L FTDP-17 patients
Authors: Rizzu, P Joosse, M Ravid, R Hoogeveen, A Kamphorst, W van Swieten, JC Willemsen, R Heutink, P
Citation: P. Rizzu et al., Mutation-dependent aggregation of tau protein and its selective depletion from the soluble fraction in brain of P301L FTDP-17 patients, HUM MOL GEN, 9(20), 2000, pp. 3075-3082
Benign hereditary chorea of early onset maps to chromosome 14q
Authors: de Vries, BBA Arts, WFM Breedveld, GJ Hoogeboom, JJM Niermeijer, MF Heutink, P
Citation: Bba. De Vries et al., Benign hereditary chorea of early onset maps to chromosome 14q, AM J HU GEN, 66(1), 2000, pp. 136-142
Point mutations throughout the GLI3 gene cause Greig cephalopolysyndactylysyndrome
Authors: Kalff-Suske, M Wild, A Topp, J Wessling, M Jacobsen, EM Bornholdt, D Engel, H Heuer, H Aalfs, CM Ausems, MGEM Barone, R Herzog, A Heutink, P Homfray, T Gillessen-Kaesbach, G Konig, R Kunze, J Meinecke, P Muller, D Rizzo, R Strenge, S Superti-Furga, A Grzeschik, KH
Citation: M. Kalff-suske et al., Point mutations throughout the GLI3 gene cause Greig cephalopolysyndactylysyndrome, HUM MOL GEN, 8(9), 1999, pp. 1769-1777
Construction of a detailed physical and transcript map of the FTDP-17 candidate region on chromosome 17q21
Authors: Froelich, S Houlden, H Rizzu, P Chakraverty, S Baker, M Kwon, J Nowotny, P Isaacs, A Nowotny, V Wauters, E van Baren, MJ Oostra, BA Hardy, J Lannfelt, L Goate, A Hutton, M Lendon, CL Heutink, P
Citation: S. Froelich et al., Construction of a detailed physical and transcript map of the FTDP-17 candidate region on chromosome 17q21, GENOMICS, 60(2), 1999, pp. 129-136
A physical and transcriptional map of the preaxial polydactyly locus on chromosome 7q36
Authors: Heus, HC Hing, A van Baren, MJ Joose, M Breedveld, GJ Wang, JC Burgess, A Donnis-Keller, H Berglund, C Zguricas, J Scherer, SW Rommens, JM Oostra, BA Heutink, P
Citation: Hc. Heus et al., A physical and transcriptional map of the preaxial polydactyly locus on chromosome 7q36, GENOMICS, 57(3), 1999, pp. 342-351
FTDP-17: An early-onset phenotype with parkinsonism and epileptic seizurescaused by a novel mutation
Authors: Sperfeld, AD Collatz, MB Baier, H Palmbach, M Storch, A Schwarz, J Tatsch, K Reske, S Joosse, M Heutink, P Ludolph, AC
Citation: Ad. Sperfeld et al., FTDP-17: An early-onset phenotype with parkinsonism and epileptic seizurescaused by a novel mutation, ANN NEUROL, 46(5), 1999, pp. 708-715
Phenotypic variation in hereditary frontotemporal dementia with tau mutations
Authors: van Swieten, JC Stevens, M Rosso, SM Rizzu, P Joosse, M de Koning, I Kamphorst, W Ravid, R Spillantini, MG Niermeijer, MF Heutink, P
Citation: Jc. Van Swieten et al., Phenotypic variation in hereditary frontotemporal dementia with tau mutations, ANN NEUROL, 46(4), 1999, pp. 617-626
Mutation screening of the tau gene in patients with early-onset Alzheimer's disease
Authors: Roks, G Dermaut, B Heutink, P Julliams, A Backhovens, H Van de Broeck, M Serneels, S Hofman, A Van Broeckhoven, C van Duijn, CM Cruts, M
Citation: G. Roks et al., Mutation screening of the tau gene in patients with early-onset Alzheimer's disease, NEUROSCI L, 277(2), 1999, pp. 137-139
The tau gene in progressive supranuclear palsy: exclusion of mutations in coding exons and exon 10 splice sites, and identification of a new intronicvariant of the disease-associated H1 haplotype in Italian cases
Authors: Bonifati, V Joosse, M Nicholl, DJ Vanacore, N Bennett, P Rizzu, P Fabbrini, G Marconi, R Colosimo, C Locuratolo, N Stocchi, F Bonuccelli, U De Mari, M Wenning, G Vieregge, P Oostra, B Meco, G Heutink, P
Citation: V. Bonifati et al., The tau gene in progressive supranuclear palsy: exclusion of mutations in coding exons and exon 10 splice sites, and identification of a new intronicvariant of the disease-associated H1 haplotype in Italian cases, NEUROSCI L, 274(1), 1999, pp. 61-65
Apolipoprotein E genotype does not affect the age of onset of dementia in families with defined tau mutations
Authors: Houlden, H Rizzu, P Stevens, M de Knijff, P van Duijn, CM van Swieten, JC Heutink, P Perez-Tur, J Thomas, V Baker, M Morris, H Rossor, M Jannsen, JC Petersen, RC Dodd, P Dark, F Boeve, B Dickson, D Davies, P Pickering-Brown, S Mann, D Adamson, J Lynch, T Payami, H Poorkaj, P Bird, TD Schellenberg, GD Chakraverty, S Norton, J Morris, JC Goate, A Hutton, M Hardy, J
Citation: H. Houlden et al., Apolipoprotein E genotype does not affect the age of onset of dementia in families with defined tau mutations, NEUROSCI L, 260(3), 1999, pp. 193-195
N-acetyltransferase-2 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., N-acetyltransferase-2 polymorphism in Parkinson's disease: the Rotterdam study, J NE NE PSY, 67(4), 1999, pp. 518-520
Clinical and genetic studies on 12 preaxial polydactyly families and refinement of the localisation of the gene responsible to a 1.9 cM region on chromosome 7q36
Authors: Zguricas, J Heus, H Morales-Peralta, E Breedveld, G Kuyt, B Mumcu, EF Bakker, W Akarsu, N Kay, SPJ Hovius, SER Heredero-Baute, L Oostra, BA Heutink, P
Citation: J. Zguricas et al., Clinical and genetic studies on 12 preaxial polydactyly families and refinement of the localisation of the gene responsible to a 1.9 cM region on chromosome 7q36, J MED GENET, 36(1), 1999, pp. 32-40
High prevalence of mutations in the microtubule-associated protein tau in a population study of frontotemporal dementia in the Netherlands
Authors: Rizzu, P Van Swieten, JC Joosse, M Hasegawa, M Stevens, M Tibben, A Niermeijer, MF Hillebrand, M Ravid, R Oostra, BA Goedert, M van Duijn, CM Heutink, P
Citation: P. Rizzu et al., High prevalence of mutations in the microtubule-associated protein tau in a population study of frontotemporal dementia in the Netherlands, AM J HU GEN, 64(2), 1999, pp. 414-421
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