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  1. Article

    Open Access

    Male patients affected by mosaic PCDH19 mutations: five new cases

    Pathogenic variants in the PCDH19 gene are associated with epilepsy, intellectual disability (ID) and behavioural disturbances. Only heterozygous females and mosaic males are affected, likely due to a disease mec...

    I. M. de Lange, P. Rump, R. F. Neuteboom, P. B. Augustijn, K. Hodges… in neurogenetics (2017)

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    Article

    Glucokinase-Maturity-Onset Diabetes of the Young en zwangerschap

    Glucokinase-Maturity-Onset Diabetes of the Young (GCK-MODY), voorheen MODY-2 genoemd, is een monogenetische, dominant overervende aandoening. De aandoening kenmerkt zich door licht verhoogde glucosespiegels en...

    T.M. Vriesendorp, H. Kip, A.M. Sebel, P. Rump… in Nederlands Tijdschrift voor Diabetologie (2017)

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    Article

    A novel 3-bp deletion in the PANK2 gene of Dutch patients with pantothenate kinase-associated neurodegeneration: evidence for a founder effect

    Mutation analysis was performed in four apparently unrelated Dutch families with pantothenate kinase-associated neurodegeneration, formerly known as Hallervorden-Spatz syndrome. A novel 3-bp deletion encompass...

    P. Rump, H. H. Lemmink, C. C. Verschuuren-Bemelmans, P. M. Grootscholten… in Neurogenetics (2005)

  4. Article

    Components of the insulin resistance syndrome in seven-year-old children: relations with birth weight and the polyunsaturated fatty acid content of umbilical cord plasma phospholipids

    According to the foetal origins hypothesis, there is a relation between foetal nutrition and adult glucose intolerance. In adults, insulin resistance has been associated with dietary polyunsaturated fatty aci...

    P. Rump, C. Popp-Snijders, R. J. Heine, G. Hornstra in Diabetologia (2002)

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  5. No Access

    Article

    Relation between arachidonic acid and docosahexaenoic acid in maternal and neonatal blood

    P Rump, G Hornstra in European Journal of Clinical Nutrition (2001)

  6. No Access

    Article

    Leptin and phospholipid-esterified docosahexaenoic acid concentrations in plasma of women: observations during pregnancy and lactation

    Background: The n-3 fatty acid status changes during pregnancy and lactation. Plasma leptin concentrations and gene expression have been related to n-3 fatty acids.

    P Rump, SJ Otto, G Hornstra in European Journal of Clinical Nutrition (2001)