N. E. Petersen

发表

Detection and characterization of a novel splice mutation in the LDL receptor intron 12 resulting in two different mutant mRNA variants.

P. Guldberg, M. Hørder, H. Nissen, 1997, Atherosclerosis.

Phenotypic presentation of the FH-Cincinnati type 5 low density lipoprotein receptor mutation.

P. Guldberg, M. L. Larsen, T. Haghfelt, 1996, Scandinavian journal of clinical and laboratory investigation.

Improved RNase protection assay for quantifying LDL-receptor mRNA; estimation of analytical imprecision and biological variance in peripheral blood mononuclear cells.

L. K. Larsen, H. Nissen, L. Jensen, 1995, Clinical chemistry.

Myosin heavy chain mRNA transform to faster isoforms in immobilized skeletal muscle: a quantitative PCR study.

M. Härkönen, V. Harjola, N. E. Petersen, 1997, Journal of applied physiology.

Porphyria presenting with bilateral radial motor neuropathy: Evidence of a novel gene mutation

W. E. Schreiber, N. E. Petersen, P. H. King, 2002, Neurology.

Mutation screening of the entire coding region of the protoporphyrinogen oxidase gene using denaturing gradient gel electrophoresis and denaturing hplc.

M. Hørder, N. E. Petersen, A. Bygum, 2001, Clinical chemistry.

Association of mutations in the hemochromatosis gene with shorter life expectancy.

J. Vaupel, L. Christiansen, K. Christensen, 2001, Archives of internal medicine.

PCR-Oligonucleotide Ligation Assay from Dried Blood Spots

M. Hørder, N. E. Petersen, A. Bygum, 1999 .

Robust nonradioactive oligonucleotide ligation assay to detect a common point mutation in the CYP2D6 gene causing abnormal drug metabolism.

M. Hørder, O. Blaabjerg, N. E. Petersen, 1995, Clinical chemistry.

Clinically applicable mutation screening in familial hypercholesterolemia

P. Guldberg, M. Hørder, H. Nissen, 1996, Human mutation.

Genetic diagnosis with the denaturing gradient gel electrophoresis technique improves diagnostic precision in familial hypercholesterolemia.

P. Guldberg, M. L. Larsen, T. Haghfelt, 1995, Circulation.

Detection of a single base deletion in codon 424 of the low density lipoprotein receptor gene in a Danish family with familial hypercholesterolemia.

P. Guldberg, M. L. Larsen, T. Haghfelt, 1994, Atherosclerosis.

Evaluation of a clinically applicable mutation screening technique for genetic diagnosis of familial hypercholesterolemia and familial defective apolipoprotein B

P. Guldberg, H. Nissen, A. B. Hansen, 1998, Clinical genetics.

Characterization of two isoalleles and three mutations in both isoforms of purified recombinant human porphobilinogen deaminase

M. Hørder, N. E. Petersen, K. Kristiansen, 2005, Scandinavian journal of clinical and laboratory investigation.

Association between CYP1A2 polymorphism and susceptibility to porphyria cutanea tarda

K. Thomsen, M. Hørder, N. E. Petersen, 2000, Human Genetics.

Denaturing gradient gel electrophoresis analysis of the hemochromatosis (HFE) gene: impact of HFE gene mutations on the manifestation of porphyria cutanea tarda.

K. Thomsen, M. Hørder, N. E. Petersen, 1999, Clinical chemistry.

1.P.46 Detecting mutations in the lipoprotein lipase gene. Establishment and testing of a screening method

L. Krogh, F. Henriksen, M. Hørder, 1997 .

Expression and characterization of six clinically relevant uroporphyrinogen decarboxylase gene mutations

M. Hørder, N. E. Petersen, A. Brock, 2005, Scandinavian journal of clinical and laboratory investigation.

Familial and sporadic porphyria cutanea tarda: clinical, biochemical and genetic features with emphasis on iron status.

K. Thomsen, M. Hørder, N. E. Petersen, 2003, Acta dermato-venereologica.

Diagnostic strategy, genetic diagnosis and identification of new mutations in intermittent porphyria by denaturing gradient gel electrophoresis

R. Kauppinen, M. Hørder, H. Nissen, 1997, Human mutation.

Three splicing defects, an insertion, and two missense mutations responsible for acute intermittent porphyria

R. Kauppinen, N. E. Petersen, P. Mustajoki, 1998, Human Genetics.

An improved PCR-based method for site directed mutagenesis using megaprimers.

M. Hørder, N. E. Petersen, K. Kristiansen, 1998, Molecular and cellular probes.

Porphyrins, porphyrin metabolism and porphyrias. II. Diagnosis and monitoring in the acute porphyrias.

P. Harper, N. E. Petersen, S. Thunell, 2000, Scandinavian journal of clinical and laboratory investigation.

Activation of classical pathway complement in chronic inflammation. Elevated levels of circulating C3d and C4d split products in rheumatoid arthritis and Crohn's disease.

S. Svehag, J. Elmgreen, N. E. Petersen, 2009, Acta Medica Scandinavica.

Heterogeneity of C4d and C3d and their complex formation with serum albumin.

J. Folkersen, S. Svehag, N. E. Petersen, 2009, Acta pathologica, microbiologica, et immunologica Scandinavica. Section C, Immunology.

Screening for mutations in the uroporphyrinogen decarboxylase gene using denaturing gradient gel electrophoresis. Identification and characterization of six novel mutations associated with familial PCT

C. Ged, A. Fontanellas, H. de Verneuil, 1999, Human mutation.

Hemizygous antithrombin‐deficiency (Budapest III) in a newborn presenting with a thrombosis at birth

S. Kristensen, N. E. Petersen, M. Käehne, 2007, British journal of haematology.

Mutation screening by denaturing gradient gel electrophoresis in North American patients with acute intermittent porphyria.

J. Senz, M. Hørder, W. E. Schreiber, 1998, Clinical chemistry.

R325X mutation in exon 15 of the hydroxymethylbilane synthase gene identified in two Danish families with acute intermittent porphyria.

M. Hørder, H. Nissen, N. E. Petersen, 1996, Clinical chemistry.

Preparation of antibodies against the fourth complement component (C4) and development of a direct electroimmunoassay for quantification of C4d.

Robert B Sim, B. Teisner, J. Folkersen, 1985, Journal of clinical & laboratory immunology.

DGGE analysis of the coproporphyrinogen oxidase gene: two new mutations in DNA from Danish patients with hereditary coproporphyria.

O. Hother-Nielsen, N. E. Petersen, K. Rasmussen, 2000, Scandinavian Journal of Clinical and Laboratory Investigation.

Role of acetaldehyde in the induction of heart left ventricular atrial natriuretic peptide gene expression in rats.

M. Härkönen, N. E. Petersen, H. Jänkälä, 2000, Alcohol and alcoholism.

Immunoelectrophoretic analysis of C4 split products expressing D but not C epitopes: influence of storage, Ca2+ and Ca2+-chelating agents.

J. Folkersen, S. Svehag, N. E. Petersen, 1985, Complement.

[Porphyria cutanea tarda].

N. E. Petersen, A. Bygum, F. Brandrup, 2000, Ugeskrift for laeger.