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  1. Article

    Open Access

    Evaluation of the Serotonergic Genes htr1A, htr1B, htr2A, and slc6A4 in Aggressive Behavior of Golden Retriever Dogs

    Aggressive behavior displays a high heritability in our study group of Golden Retriever dogs. Alterations in brain serotonin metabolism have been described in aggressive dogs before. Here, we evaluate whether ...

    L. van den Berg, M. Vos-Loohuis, M. B. H. Schilder, B. A. van Oost… in Behavior Genetics (2008)

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    Article

    Phenoty** of Aggressive Behavior in Golden Retriever Dogs with a Questionnaire

    Reliable and valid phenoty** is crucial for our study of genetic factors underlying aggression in Golden Retriever dogs. A mail questionnaire based on the Canine Behavioral Assessment and Research Questionna...

    L. van den Berg, M. B. H. Schilder, H. de Vries, P. A. J. Leegwater… in Behavior Genetics (2006)

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    Article

    Benign mitochondrial encephalomyopathy in a patient with complex I deficiency

    J. M. F. Trijbels, W. Ruitenbeek… in Journal of Inherited Metabolic Disease (1996)

  4. No Access

    Article

    A (G-to-A) mutation in the initiation codon of the proteolipid protein gene causing a relatively mild form of Pelizaeus-Merzbacher disease in a Dutch family

    Pelizaeus-Merzbacher disease (PMD) is an X-linked recessive disorder that is characterized by dysmyelination of the central nervous system resulting from mutations in the proteolipid protein (PLP) gene. Mutati...

    Erik A. Sistermans, Sistermans de Wijs, Renŕ F. M. de Coo, B. A. van Oost… in Human Genetics (1996)

  5. No Access

    Article

    Royal academy of medicine in Ireland international conference on homocysteine metabolism from basic science to clinical medicine

    K. Björkegren, C. Bergmark, U. de Faire… in Irish Journal of Medical Science (1995)

  6. No Access

    Article

    Familial mitochondrial encephalopathy with fetal ultrasonographic ventriculomegaly and intracerebral calcifications

    In two sibs antenatal ultrasonography revealed identical intracranial calcification, ventricular widening and microcephaly. The first pregnancy was artificially terminated at 19 weeks. Post-mortem examination ...

    J. F. Samsom, C. Jakobs, P. G. Barth, J. I. P. de Vries… in European Journal of Pediatrics (1994)

  7. No Access

    Article

    Biogenic amine metabolite patterns in the urine of monoamine oxidase A-deficient patients. A possible tool for diagnosis

    N. G. G. M. Abeling, A. H. van Gennip… in Journal of Inherited Metabolic Disease (1994)

  8. No Access

    Article

    Enzymological versus DNA investigations in mitochondrial (encephalo-)myopathies

    D. D. de Vries, W. Ruitenbeek, I. J. de Wijs… in Journal of Inherited Metabolic Disease (1993)

  9. No Access

    Article

    DXS539, a polymorphic DNA marker proximal of the fragile-X gene

    We report a new polymorphic DNA marker (pJH89, DXS539) proximal to the fragile-X site. The pJH89 probe identifies a TaqI and a NcoI restriction fragment length polymorphism (combined heterozygosity of 42%) and is...

    J. C. F. M. Dreesen, J. A. J. M. van den Hurk, A. P. T. Smits… in Human Genetics (1993)

  10. No Access

    Article

    Detection of extremely low levels of wild-type mitochondrial DNA in the liver of a patient with pearson syndrome by a sensitive PCR assay

    D. D. de Vries, W. Ruittenbeek, B. A. van Oost in Journal of Inherited Metabolic Disease (1992)

  11. No Access

    Chapter and Conference Paper

    Prader-Willi Syndrome and Angelman Syndrome in Two Female Cousins as a Result of a Familial Translocation

    Two first cousins, one with Prader-Willi Syndrome (PWS) and one with Angelman Syndrome (AS), were both found to have familial translocation 6;15. Cytogenetic and molecular analysis indicate that the child with...

    D. F. C. M. Smeets, M. R. Nelen, B. C. J. Hamel, A. P. T. Smits… in Prader-Willi Syndrome (1992)

  12. No Access

    Article

    New distal marker closely linked to the fragile X locus

    We have isolated II-10, a new X-chromosomal probe that identifies a highly informative two-allele TaqI restriction fragment length polymorphism at locus DXS466. Using somatic cell hybrids containing distinct port...

    T. J. M. Hulsebos, B. A. Oostra, S. Broersen, A. Smits, B. A. van Oost… in Human Genetics (1991)

  13. No Access

    Article

    Linkage analysis in X-linked adrenoleukodystrophy and application in post-and prenatal diagnosis

    We have performed linkage analysis with the DNA markers DXS52 and the clotting factor VIII gene (F8C), in several large families with X-linked adrenoleukodystrophy (ALD). The tight linkage to DXS52 could be ex...

    B. A. van Oost, P. M. van Zandvoort, W. Tünte, H. G. Brunner… in Human Genetics (1991)

  14. No Access

    Article

    Myotonic dystrophy is closely linked to the gene for muscle-type creatine kinase (CKMM)

    We have studied genetic linkage between the gene for creatine kinase muscle type (CKMM) and the gene for myotonic dystrophy (DM). In a panel of 65 myotonic dystrophy families from Canada and the Netherlands, a...

    H. G. Brunner, R. G. Korneluk, M. Coerwinkel-Driessen, A. MacKenzie… in Human Genetics (1989)

  15. No Access

    Article

    Nephrogenic diabetes insipidus: close linkage with markers from the distal long arm of the human X chromosome

    Ten families with nephrogenic diabetes insipidus (NDI) have been analysed for restriction fragment length polymorphisms (RFLPs). A search for linkage was performed using various chromosome-specific single-copy...

    N. Knoers, H. van der Heyden, B. A. van Oost, H. H. Ropers, L. Monnens… in Human Genetics (1988)