P Rump

Summary

Affiliation: University of Groningen
Country: The Netherlands

Publications

  1. ncbi The n-3 and n-6 polyunsaturated fatty acid composition of plasma phospholipids in pregnant women and their infants. relationship with maternal linoleic acid intake
    Patrick Rum
    Nutrition and Toxicology Research Institute Maastricht, University of Maastricht, The Netherlands
    Clin Chem Lab Med 40:32-9. 2002
  2. ncbi Interaction between a common variant of the cholesteryl ester transfer protein gene and the apolipoprotein E polymorphism: effects on plasma lipids and lipoproteins in a cohort of 7-year-old children
    P Rump
    Nutrition and Toxicology Research Institute Maastricht NUTRIM, Department of Human Biology, Maastricht University, Maastricht, The Netherlands
    Nutr Metab Cardiovasc Dis 12:317-24. 2002
  3. ncbi Tumor risk in Beckwith-Wiedemann syndrome: A review and meta-analysis
    P Rump
    Department of Clinical Genetics, Academic Hospital Groningen, Groningen, The Netherlands
    Am J Med Genet A 136:95-104. 2005
  4. ncbi Essential fatty acid composition of plasma phospholipids and birth weight: a study in term neonates
    P Rump
    Department of Human Biology and the Nutrition and Toxicology Research Institute Maastricht, Maastricht University, Maastricht, Netherlands
    Am J Clin Nutr 73:797-806. 2001
  5. ncbi 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
    P Rump
    Department of Human Biology, Maastricht University, Maastricht, The Netherlands
    Diabetologia 45:349-55. 2002
  6. pmc A novel 3-bp deletion in the PANK2 gene of Dutch patients with pantothenate kinase-associated neurodegeneration: evidence for a founder effect
    P Rump
    Department of Clinical Genetics, University Medical Centre Groningen, University of Groningen, 30 001, 9700 RB Groningen, The Netherlands
    Neurogenetics 6:201-7. 2005
  7. doi Drayer's syndrome of mental retardation, microcephaly, short stature and absent phalanges is caused by a recurrent deletion of chromosome 15(q26.2-->qter)
    P Rump
    Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands
    Clin Genet 74:455-62. 2008
  8. ncbi Severe complications in a child with achondroplasia and two FGFR3 mutations on the same allele
    P Rump
    Department of Clinical Genetics, University Medical Center Groningen, University of Groningen, The Netherlands
    Am J Med Genet A 140:284-90. 2006
  9. doi A novel mutation in MED12 causes FG syndrome (Opitz-Kaveggia syndrome)
    P Rump
    Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands
    Clin Genet 79:183-8. 2011

Detail Information

Publications9

  1. ncbi The n-3 and n-6 polyunsaturated fatty acid composition of plasma phospholipids in pregnant women and their infants. relationship with maternal linoleic acid intake
    Patrick Rum
    Nutrition and Toxicology Research Institute Maastricht, University of Maastricht, The Netherlands
    Clin Chem Lab Med 40:32-9. 2002
    ..This data can be be used as a reference for future studies and may aid in identifying term infants with a relatively low long-chain polyene status at birth...
  2. ncbi Interaction between a common variant of the cholesteryl ester transfer protein gene and the apolipoprotein E polymorphism: effects on plasma lipids and lipoproteins in a cohort of 7-year-old children
    P Rump
    Nutrition and Toxicology Research Institute Maastricht NUTRIM, Department of Human Biology, Maastricht University, Maastricht, The Netherlands
    Nutr Metab Cardiovasc Dis 12:317-24. 2002
    ..As both apo E and CETP contribute to the reverse transport of cholesterol to the liver, the effects of variations at the CETP locus may very well interact with the apo E genotype...
  3. ncbi Tumor risk in Beckwith-Wiedemann syndrome: A review and meta-analysis
    P Rump
    Department of Clinical Genetics, Academic Hospital Groningen, Groningen, The Netherlands
    Am J Med Genet A 136:95-104. 2005
    ..No Wilms tumor was seen in group I. In total, other tumors were seen with comparable frequencies in groups I-III. The results show a strong association between a LOI of H19 and especially Wilms tumor development in BWS...
  4. ncbi Essential fatty acid composition of plasma phospholipids and birth weight: a study in term neonates
    P Rump
    Department of Human Biology and the Nutrition and Toxicology Research Institute Maastricht, Maastricht University, Maastricht, Netherlands
    Am J Clin Nutr 73:797-806. 2001
    ..Essential fatty acids (EFAs) in umbilical cord blood samples are associated with attained birth weight in premature infants and low-birth-weight neonates...
  5. ncbi 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
    P Rump
    Department of Human Biology, Maastricht University, Maastricht, The Netherlands
    Diabetologia 45:349-55. 2002
    ..We examined whether the availability of polyunsaturated fatty acids during foetal life, as indicated by the fatty acid composition of cord blood samples, relates to childhood body composition and glycaemic control...
  6. pmc A novel 3-bp deletion in the PANK2 gene of Dutch patients with pantothenate kinase-associated neurodegeneration: evidence for a founder effect
    P Rump
    Department of Clinical Genetics, University Medical Centre Groningen, University of Groningen, 30 001, 9700 RB Groningen, The Netherlands
    Neurogenetics 6:201-7. 2005
    ..It was estimated that this mutation arose at the beginning of the ninth century, approximately 38 generations ago...
  7. doi Drayer's syndrome of mental retardation, microcephaly, short stature and absent phalanges is caused by a recurrent deletion of chromosome 15(q26.2-->qter)
    P Rump
    Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands
    Clin Genet 74:455-62. 2008
    ..This study demonstrates the possibility of parental mosaicism and the risk of recurrence in sibs for terminal subtelomeric deletions...
  8. ncbi Severe complications in a child with achondroplasia and two FGFR3 mutations on the same allele
    P Rump
    Department of Clinical Genetics, University Medical Center Groningen, University of Groningen, The Netherlands
    Am J Med Genet A 140:284-90. 2006
    ..Both mutations were not present in the parents and appear to have occurred de novo. To our knowledge, this is the first report in the literature on an achondroplasia patient with two FGFR3 mutations on the same allele...
  9. doi A novel mutation in MED12 causes FG syndrome (Opitz-Kaveggia syndrome)
    P Rump
    Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands
    Clin Genet 79:183-8. 2011
    ..G958E). This is the first demonstration that other mutations in this gene can also lead to Opitz-Kaveggia syndrome. The clinical phenotype of these three new cases is reviewed in detail and compared with the previous reported cases...