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La ricerca find articoli where authors phrase all words ' Heutink, P' sort by level,fasc_key/DESCEND, pagina_ini_num/ASCEND ha restituito 48 riferimenti
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    1. 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
      A mutation in SLC11A3 is associated with autosomal dominant hemochromatosis

      NATURE GENETICS
    2. Galjaard, RJH; Kostakoglu, N; Hoogeboom, JJM; Breedveld, GJ; van der Linde, HC; Hovius, SER; Oostra, BA; Sandkuijl, LA; Akarsu, AN; Heutink, P
      X-linked recessive inheritance of radial ray deficiencies in a family withfour affected males

      EUROPEAN JOURNAL OF HUMAN GENETICS
    3. Heus, HC; Luijsterburg, AJM; van Baren, MJ; Breedveld, GJ; Joosse, MN; Nieuwenhuizen, IM; Vermeij-Keers, C; Oostra, BA; Heutink, P
      Hemimelic extra toes and Hammer toe are distinct mutations that show a genetic interaction

      MAMMALIAN GENOME
    4. Harhangi, BS; Oostra, BA; Heutink, P; van Duijn, CM; Hofman, A; Breteler, MMB
      CYP2D6 polymorphism in Parkinson's disease: The Rotterdam study

      MOVEMENT DISORDERS
    5. Galjaard, RJH; van der Ham, LI; Posch, NAS; Dijkstra, PF; Oostra, BA; Hovius, SER; Timmenga, EJF; Sonneveld, GJ; Hoogeboom, AJM; Heutink, P
      Differences in complexity of isolated brachydactyly type C cannot be attributed to locus heterogeneity alone

      AMERICAN JOURNAL OF MEDICAL GENETICS
    6. Vaessen, N; Heutink, P; Janssen, JA; Witteman, JCM; Testers, L; Hofman, A; Lamberts, SWJ; Oostra, BA; Pols, HAP; van Duijn, CM
      A polymorphism in the gene for IGF-I - Functional properties and risk for type 2 diabetes and myocardial infarction

      DIABETES
    7. Rosso, SM; Kamphorst, W; de Graaf, B; Willemsen, R; Ravid, R; Niermeijer, MF; Spillantini, MG; Heutink, P; van Swieten, JC
      Familial frontotemporal dementia with ubiquitin-positive inclusions is linked to chromosome 17q2l-22

      BRAIN
    8. Miyasaka, T; Morishima-Kawashima, M; Ravid, R; Heutink, P; van Swieten, JC; Nagashima, K; Ihara, Y
      Molecular analysis of mutant and wild-type tau deposited in the brain affected by the FTDP-17 R406W mutation

      AMERICAN JOURNAL OF PATHOLOGY
    9. Drenth, JPH; Finley, WH; Breedveld, GJ; Testers, L; Michiels, JJ; Guillet, G; Taieb, A; Kirby, RL; Heutink, P
      The primary erythermalgia-susceptibility gene is located on chromosome 2q31-32

      AMERICAN JOURNAL OF HUMAN GENETICS
    10. Ianakiev, P; van Baren, MJ; Daly, MJ; Toledo, SPA; Cavalcanti, MG; Neto, JC; Silveira, EL; Freire-Maia, A; Heutink, P; Kilpatrick, MW; Tsipouras, P
      Acheiropodia is caused by a genomic deletion in C7orf2, the human orthologue of the Lmbr1 gene

      AMERICAN JOURNAL OF HUMAN GENETICS
    11. Heutink, P
      Untangling tau-related dementia

      HUMAN MOLECULAR GENETICS
    12. Rizzu, P; Joosse, M; Ravid, R; Hoogeveen, A; Kamphorst, W; van Swieten, JC; Willemsen, R; Heutink, P
      Mutation-dependent aggregation of tau protein and its selective depletion from the soluble fraction in brain of P301L FTDP-17 patients

      HUMAN MOLECULAR GENETICS
    13. de Vries, BBA; Arts, WFM; Breedveld, GJ; Hoogeboom, JJM; Niermeijer, MF; Heutink, P
      Benign hereditary chorea of early onset maps to chromosome 14q

      AMERICAN JOURNAL OF HUMAN GENETICS
    14. 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
      Point mutations throughout the GLI3 gene cause Greig cephalopolysyndactylysyndrome

      HUMAN MOLECULAR GENETICS
    15. 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
      Construction of a detailed physical and transcript map of the FTDP-17 candidate region on chromosome 17q21

      GENOMICS
    16. 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
      A physical and transcriptional map of the preaxial polydactyly locus on chromosome 7q36

      GENOMICS
    17. Sperfeld, AD; Collatz, MB; Baier, H; Palmbach, M; Storch, A; Schwarz, J; Tatsch, K; Reske, S; Joosse, M; Heutink, P; Ludolph, AC
      FTDP-17: An early-onset phenotype with parkinsonism and epileptic seizurescaused by a novel mutation

      ANNALS OF NEUROLOGY
    18. van Swieten, JC; Stevens, M; Rosso, SM; Rizzu, P; Joosse, M; de Koning, I; Kamphorst, W; Ravid, R; Spillantini, MG; Niermeijer, MF; Heutink, P
      Phenotypic variation in hereditary frontotemporal dementia with tau mutations

      ANNALS OF NEUROLOGY
    19. 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
      Mutation screening of the tau gene in patients with early-onset Alzheimer's disease

      NEUROSCIENCE LETTERS
    20. 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
      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

      NEUROSCIENCE LETTERS
    21. 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
      Apolipoprotein E genotype does not affect the age of onset of dementia in families with defined tau mutations

      NEUROSCIENCE LETTERS
    22. Harhangi, BS; Oostra, BA; Heutink, P; van Duijn, CM; Hofman, A; Breteler, MMB
      N-acetyltransferase-2 polymorphism in Parkinson's disease: the Rotterdam study

      JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY
    23. 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
      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

      JOURNAL OF MEDICAL GENETICS
    24. 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
      High prevalence of mutations in the microtubule-associated protein tau in a population study of frontotemporal dementia in the Netherlands

      AMERICAN JOURNAL OF HUMAN GENETICS
    25. BRAIS B; BOUCHARD JP; XIE YG; ROCHEFORT DL; CHRETIEN N; TOME FMS; LAFRENIERE RG; ROMMENS JM; UYAMA E; NOHIRA O; BLUMEN S; KORCYN AD; HEUTINK P; MATHIEU J; DURANCEAU A; CODERE F; FARDEAU M; ROULEAU GA
      SHORT GCG EXPANSIONS IN THE PABP2 GENE CAUSE OCULOPHARYNGEAL MUSCULAR-DYSTROPHY

      Nature genetics
    26. VANSWIETEN JC; KAMPHORST W; CROWTHER T; HEUTINK P; SPILLANTINI MG
      MICROTUBULE-ASSOCIATED PROTEIN-TAU IN 3 DUTCH FAMILIES WITH FRONTOTEMPORAL DEMENTIA LINKED TO CHROMOSOME 17Q21-22

      Annals of neurology
    27. ZGURICAS J; BAKKER WF; HEUS H; LINDHOUT D; HEUTINK P; HOVIUS SER
      GENETICS OF LIMB DEVELOPMENT AND CONGENITAL HAND MALFORMATIONS

      Plastic and reconstructive surgery
    28. STEVENS M; VANDUIJN CM; KAMPHORST W; DEKNIJFF P; HEUTINK P; VANGOOL WA; SCHELTENS P; RAVID R; OOSTRA BA; NIERMEIJER MF; VANSWIETEN JC
      FAMILIAL AGGREGATION IN FRONTOTEMPORAL DEMENTIA

      Neurology
    29. HUTTON M; LENDON CL; RIZZU P; BAKER M; FROELICH S; HOULDEN H; PICKERINGBROWN S; CHAKRAVERTY S; ISAACS A; GROVER A; HACKETT J; ADAMSON J; LINCOLN S; DICKSON D; DAVIES P; PETERSEN RC; STEVENS M; DEGRAAFF E; WAUTERS E; VANBAREN J; HILLEBRAND M; JOOSSE M; KWON JM; NOWOTNY P; CHE LK; NORTON J; MORRIS JC; REED LA; TROJANOWSKI J; BASUN H; LANNFELT L; NEYSTAT M; FAHN S; DARK F; TANNENBERG T; DODD PR; HAYWARD N; KWOK JBJ; SCHOFIELD PR; ANDREADIS A; SNOWDEN J; CRAUFURD D; NEARY D; OWEN F; OOSTRA BA; HARDY J; GOATE A; VANSWIETEN J; MANN D; LYNCH T; HEUTINK P
      ASSOCIATION OF MISSENSE AND 5'-SPLICE-SITE MUTATIONS IN TAU WITH THE INHERITED DEMENTIA FTDP-17

      Nature
    30. SPILLANTINI MG; CROWTHER RA; KAMPHORST W; HEUTINK P; VANSWIETEN JC
      TAU PATHOLOGY IN 2 DUTCH FAMILIES WITH MUTATIONS IN THE MICROTUBULE-BINDING REGION OF TAU

      The American journal of pathology
    31. FOSTER NL; WILHELMSEN K; SIMA AAF; JONES MZ; DAMATO CJ; GILMAN S; SPILLANTINI MG; LYNCH T; MAYEUX RP; GASKELL PC; HULETTE CM; PERICAKVANCE MA; WELSHBOHMER KA; DICKSON DW; HEUTINK P; KROS J; VANSWIETEN JC; ARWERT F; GHETTI MB; MURRELL J; LANNFELT L; HUTTON M; JONES M; PHELPS CH; SNYDER DS; OLIVER E; BALL MJ; CUMMINGS JL; MILLER BL; KATZMAN R; REED L; SCHELPER RL; LANDSKA DJ; BRUN A; FINK JK; KUHL DE; KNOPMAN DS; WSZOLEK Z; MILLER CA; BIRD TD; LENDON C; ELECHI C
      FRONTOTEMPORAL DEMENTIA AND PARKINSONISM LINKED TO CHROMOSOME-17 - A CONSENSUS CONFERENCE

      Annals of neurology
    32. HEUTINK P; STEVENS M; RIZZU P; BAKKER E; KROS JM; TIBBEN A; NIERMEIJER MF; VANDUIJN CM; OOSTRA BA; VANSWIETEN JC
      HEREDITARY FRONTOTEMPORAL DEMENTIA IS LINKED TO CHROMOSOME-17Q21-Q22 - A GENETIC AND CLINICOPATHOLOGICAL STUDY OF 3 DUTCH FAMILIES

      Annals of neurology
    33. STEVENS M; VANDUIJN CM; DEKNIJFF P; VANBROECKHOVEN C; HEUTINK P; OOSTRA BA; NIERMEIJER MF; VANSWIETEN JC
      APOLIPOPROTEIN-E GENE AND SPORADIC FRONTAL-LOBE DEMENTIA

      Neurology
    34. STEVENS M; VANDUIJN CM; OOSTRA BA; HEUTINK P; VANSWIETEN JC
      FAMILIAL AGGREGATION IN FRONTOTEMPORAL DEMENTIA

      Neurology
    35. HOYNG CB; HEUTINK P; TESTERS L; PINCKERS A; DEUTMAN AF; OOSTRA BA
      AUTOSOMAL-DOMINANT CENTRAL AREOLAR CHOROIDAL DYSTROPHY CAUSED BY A MUTATION IN CODON-142 IN THE PERIPHERIN RDS GENE/

      American journal of ophthalmology
    36. HEUTINK P; VERMEIJKEERS C; OOSTRA BA
      THE GENETIC BACKGROUND OF CRANIOSYNOSTOSIS SYNDROMES

      European journal of human genetics
    37. HEUTINK P; ZGURICAS J; BREEDVELD GJ; TESTERS L; LINDHOUT D; HOVIUS SER; OOSTRA BA
      GENE FOR TRIPHALANGEAL THUMB MAPS TO CHROMOSOME 7Q36

      Cytogenetics and cell genetics
    38. HOYNG CB; HEUTINK P; DEUTMAN AF; OOSTRA BA
      A MUTATION IN CODON-142 IN CENTRAL AREOLAR CHOROIDAL DYSTROPHY

      Investigative ophthalmology & visual science
    39. HING A; HEUTINK P; READ C; LACY M; WANG JC; BURGESS A; HELMS C; SCHERER S; TSUI LC; OOSTRA B; DONISKELLER H
      CONSTRUCTION OF A YAC CONTIG AND STS MAP SPANNING 2.5 MB IN 7Q36, THECRITICAL REGION FOR THE PREAXIAL POLYDACTYLY TYPE-2 GENE

      American journal of human genetics
    40. HEUTINK P; VANDEWETERING BJM; PAKSTIS AJ; KURLAN R; SANDOR P; OOSTRA BA; SANDKUIJL LA
      LINKAGE STUDIES ON GILLES-DE-LA-TOURETTE SYNDROME - WHAT IS THE STRATEGY OF CHOICE

      American journal of human genetics
    41. MCALLISTER KA; GROGG KM; JOHNSON DW; GALLIONE CJ; BALDWIN MA; JACKSON CE; HELMBOLD EA; MARKEL DS; MCKINNON WC; MURRELL J; MCCORMICK MK; PERICAKVANCE MA; HEUTINK P; OOSTRA BA; HAITJEMA T; WESTERMAN CJJ; PORTEOUS ME; GUTTMACHER AE; LETARTE M; MARCHUK DA
      ENDOGLIN, A TGF-BETA BINDING-PROTEIN OF ENDOTHELIAL-CELLS, IS THE GENE FOR HEREDITARY HEMORRHAGIC TELANGIECTASIA TYPE-1

      Nature genetics
    42. HEUTINK P; ZGURICAS J; VANOOSTERHOUT L; BREEDVELD GJ; TESTERS L; SANDKUIJL LA; SNIJDERS PJLM; WEISSENBACH J; LINDHOUT D; HOVIUS SER; OOSTRA BA
      THE GENE FOR TRIPHALANGEAL THUMB MAPS TO THE SUBTELOMERIC REGION OF CHROMOSOME 7Q

      Nature genetics
    43. WU YQ; HEUTINK P; DEVRIES BBA; SANDKUIJL LA; VANDENOUWELAND AMW; NIERMEIJER MF; GALJAARD H; REYNIERS E; WILLEMS PJ; HALLEY DJJ
      ASSIGNMENT OF A 2ND LOCUS FOR MULTIPLE EXOSTOSES TO THE PERICENTROMERIC REGION OF CHROMOSOME-11

      Human molecular genetics
    44. ZGURICAS J; SNIJDERS PJLM; HOVIUS SER; HEUTINK P; OOSTRA BA; LINDHOUT D
      PHENOTYPIC ANALYSIS OF TRIPHALANGEAL THUMB AND ASSOCIATED HAND MALFORMATIONS

      Journal of Medical Genetics
    45. HEUTINK P; HAITJEMA T; BREEDVELD GJ; JANSSEN B; SANDKUIJL LA; BONTEKOE CJM; WESTERMAN CJJ; OOSTRA BA
      LINKAGE OF HEREDITARY HEMORRHAGIC TELANGIECTASIA TO CHROMOSOME 9Q34 AND EVIDENCE FOR LOCUS HETEROGENEITY

      Journal of Medical Genetics
    46. BONTEKOE CJM; DEGRAAFF E; BREEDVELD GJ; OOSTRA BA; HEUTINK P
      DINUCLEOTIDE REPEAT POLYMORPHISM AT D11S994 LOCUS

      Human molecular genetics
    47. VANDEWETERING BJM; HEUTINK P
      THE GENETICS OF THE GILLES-DE-LA-TOURETTE SYNDROME - A REVIEW

      The Journal of laboratory and clinical medicine
    48. HEUTINK P; VANDEWETERING BJM; PAKSTIS AJ; KURLAN R; SANDOR P; DEVOR EJ; OOSTRA BA; SANDKUIJL LA
      COMPUTER-SIMULATIONS ON FAMILIES WITH GILLES-DE-LA-TOURETTE SYNDROME

      American journal of human genetics


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Documento generato il 15/01/21 alle ore 23:10:05