Winter VS - Search Results

1

Identification of four new mutations in the short-chain acyl-CoA dehydrogenase (SCAD) gene in two patients: one of the variant alleles, 511C-->T, is present at an unexpectedly high frequency in the general population, as was the case for 625G-->A, together conferring susceptibility to ethylmalonic aciduria.

Gregersen N, Winter VS, Corydon MJ, Corydon TJ, Rinaldo P, Ribes A, Martinez G, Bennett MJ, Vianey-Saban C, Bhala A, Hale DE, Lehnert W, Kmoch S, Roig M, Riudor E, Eiberg H, Andresen BS, Bross P, Bolund LA, Kølvraa S. Gregersen N, et al. Among authors: winter vs. Hum Mol Genet. 1998 Apr;7(4):619-27. doi: 10.1093/hmg/7.4.619. Hum Mol Genet. 1998. PMID: 9499414

2

Handling of human short-chain acyl-CoA dehydrogenase (SCAD) variant proteins in transgenic mice.

Kragh PM, Pedersen CB, Schmidt SP, Winter VS, Vajta G, Gregersen N, Bolund L, Corydon TJ. Kragh PM, et al. Among authors: winter vs. Mol Genet Metab. 2007 Jun;91(2):128-37. doi: 10.1016/j.ymgme.2007.03.005. Epub 2007 Apr 25. Mol Genet Metab. 2007. PMID: 17462936

3

Misfolding, degradation, and aggregation of variant proteins. The molecular pathogenesis of short chain acyl-CoA dehydrogenase (SCAD) deficiency.

Pedersen CB, Bross P, Winter VS, Corydon TJ, Bolund L, Bartlett K, Vockley J, Gregersen N. Pedersen CB, et al. Among authors: winter vs. J Biol Chem. 2003 Nov 28;278(48):47449-58. doi: 10.1074/jbc.M309514200. Epub 2003 Sep 23. J Biol Chem. 2003. PMID: 14506246 Free article.

4

Molecular analysis of medium-chain acyl-CoA dehydrogenase deficiency: a diagnostic approach.

Gregersen N, Winter V, Kølvraa S, Andresen BS, Bross P, Blakemore A, Curtis D, Bolund L. Gregersen N, et al. Prog Clin Biol Res. 1992;375:441-52. Prog Clin Biol Res. 1992. PMID: 1438387 Review. No abstract available.

5

[Medium chain acyl-CoA dehydrogenase (MCAD) deficiency: a life-threatening defect of fatty acid oxidation].

Gregersen N, Winter V, Andresen BS, Kølvraa S, Christensen E, Petersen BN, Bolund LA. Gregersen N, et al. Ugeskr Laeger. 1992 Feb 17;154(8):483-8. Ugeskr Laeger. 1992. PMID: 1539377 Review. Danish.

6

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. Hum Genet. 1991 Aug;87(4):425-8. doi: 10.1007/BF00197161. Hum Genet. 1991. PMID: 1679031

7

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

8

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. Scand J Clin Lab Invest Suppl. 1995;220:9-25. Scand J Clin Lab Invest Suppl. 1995. PMID: 7652482 Review.

9

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. Prenat Diagn. 1995 Jan;15(1):82-6. doi: 10.1002/pd.1970150118. Prenat Diagn. 1995. PMID: 7740006

10

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. J Inherit Metab Dis. 1994;17(3):275-8. doi: 10.1007/BF00711806. J Inherit Metab Dis. 1994. PMID: 7807932 No abstract available.

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