Gregersen N - Search Results

1

Cloning and characterization of human very-long-chain acyl-CoA dehydrogenase cDNA, chromosomal assignment of the gene and identification in four patients of nine different mutations within the VLCAD gene.

Andresen BS, Bross P, Vianey-Saban C, Divry P, Zabot MT, Roe CR, Nada MA, Byskov A, Kruse TA, Neve S, Kristiansen K, Knudsen I, Corydon MJ, Gregersen N. Andresen BS, et al. Among authors: gregersen n. Hum Mol Genet. 1996 Apr;5(4):461-72. doi: 10.1093/hmg/5.4.461. Hum Mol Genet. 1996. PMID: 8845838

2

Genetic defects in fatty acid beta-oxidation and acyl-CoA dehydrogenases. Molecular pathogenesis and genotype-phenotype relationships.

Gregersen N, Bross P, Andresen BS. Gregersen N, et al. Eur J Biochem. 2004 Feb;271(3):470-82. doi: 10.1046/j.1432-1033.2003.03949.x. Eur J Biochem. 2004. PMID: 14728674 Free article. Review.

3

Short/branched-chain acyl-CoA dehydrogenase deficiency due to an IVS3+3A>G mutation that causes exon skipping.

Madsen PP, Kibaek M, Roca X, Sachidanandam R, Krainer AR, Christensen E, Steiner RD, Gibson KM, Corydon TJ, Knudsen I, Wanders RJ, Ruiter JP, Gregersen N, Andresen BS. Madsen PP, et al. Among authors: gregersen n. Hum Genet. 2006 Feb;118(6):680-90. doi: 10.1007/s00439-005-0070-4. Epub 2005 Nov 30. Hum Genet. 2006. PMID: 16317551

4

The ACADS gene variation spectrum in 114 patients with short-chain acyl-CoA dehydrogenase (SCAD) deficiency is dominated by missense variations leading to protein misfolding at the cellular level.

Pedersen CB, Kølvraa S, Kølvraa A, Stenbroen V, Kjeldsen M, Ensenauer R, Tein I, Matern D, Rinaldo P, Vianey-Saban C, Ribes A, Lehnert W, Christensen E, Corydon TJ, Andresen BS, Vang S, Bolund L, Vockley J, Bross P, Gregersen N. Pedersen CB, et al. Among authors: gregersen n. Hum Genet. 2008 Aug;124(1):43-56. doi: 10.1007/s00439-008-0521-9. Epub 2008 Jun 4. Hum Genet. 2008. PMID: 18523805

5

The most common mutation causing medium-chain acyl-CoA dehydrogenase deficiency is strongly associated with a particular haplotype in the region of the gene.

Kølvraa S, Gregersen N, Blakemore AI, Schneidermann AK, Winter V, Andresen BS, Curtis D, Engel PC, Pricille D, Rhead W, et al. Kølvraa S, et al. Among authors: gregersen n. Hum Genet. 1991 Aug;87(4):425-8. doi: 10.1007/BF00197161. Hum Genet. 1991. PMID: 1679031

6

Molecular characterization of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency: identification of a lys329 to glu mutation in the MCAD gene, and expression of inactive mutant enzyme protein in E. coli.

Gregersen N, Andresen BS, Bross P, Winter V, Rüdiger N, Engst S, Christensen E, Kelly D, Strauss AW, Kølvraa S, et al. Gregersen N, et al. Hum Genet. 1991 Apr;86(6):545-51. doi: 10.1007/BF00201539. Hum Genet. 1991. PMID: 1902818

7

Molecular diagnosis and characterization of medium-chain acyl-CoA dehydrogenase deficiency.

Andresen BS, Bross P, Jensen TG, Knudsen I, Winter V, Kølvraa S, Bolund L, Gregersen N. Andresen BS, et al. Among authors: gregersen n. Scand J Clin Lab Invest Suppl. 1995;220:9-25. Scand J Clin Lab Invest Suppl. 1995. PMID: 7652482 Review.

8

Prenatal diagnosis of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in a family with a previous fatal case of sudden unexpected death in childhood.

Gregersen N, Winter V, Jensen PK, Holmskov A, Kølvraa S, Andresen BS, Christensen E, Bross P, Lundemose JB, Gregersen M. Gregersen N, et al. Among authors: gregersen m. Prenat Diagn. 1995 Jan;15(1):82-6. doi: 10.1002/pd.1970150118. Prenat Diagn. 1995. PMID: 7740006

9

Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency due to heterozygosity for the common mutation and an allele resulting in low levels of MCAD mRNA.

Andresen BS, Bross P, Knudsen I, Winter V, Kølvraa S, Bolund L, Gregersen N. Andresen BS, et al. Among authors: gregersen n. J Inherit Metab Dis. 1994;17(3):275-8. doi: 10.1007/BF00711806. J Inherit Metab Dis. 1994. PMID: 7807932 No abstract available.

10

Amino acid polymorphism (Gly209Ser) in the ACADS gene.

Kristensen MJ, Kmoch S, Bross P, Andresen BS, Gregersen N. Kristensen MJ, et al. Among authors: gregersen n. Hum Mol Genet. 1994 Sep;3(9):1711. doi: 10.1093/hmg/3.9.1711-a. Hum Mol Genet. 1994. PMID: 7833941 No abstract available.

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