P Rump

Summary

Affiliation: University Medical Center Groningen
Country: The Netherlands

Publications

  1. 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
  2. ncbi request reprint 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
  3. doi request reprint 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
  4. doi request reprint 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
  5. doi request reprint Madelung deformity in a girl with a novel and de novo mutation in the GNAS gene
    Patrick Rump
    Department of Genetics, University Medical Center Groningen, University of Groningen, The Netherlands
    Am J Med Genet A 155:2566-70. 2011
  6. ncbi request reprint 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
  7. ncbi request reprint 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

Detail Information

Publications7

  1. 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...
  2. ncbi request reprint 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...
  3. doi request reprint 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...
  4. doi request reprint 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...
  5. doi request reprint Madelung deformity in a girl with a novel and de novo mutation in the GNAS gene
    Patrick Rump
    Department of Genetics, University Medical Center Groningen, University of Groningen, The Netherlands
    Am J Med Genet A 155:2566-70. 2011
    ..476T>C; p.Val159Ala) in exon 6 of the GNAS gene...
  6. ncbi request reprint 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...
  7. ncbi request reprint 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...