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213 results

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Page 1
A polymorphic variant in the human electron transfer flavoprotein alpha-chain (alpha-T171) displays decreased thermal stability and is overrepresented in very-long-chain acyl-CoA dehydrogenase-deficient patients with mild childhood presentation.
Bross P, Pedersen P, Winter V, Nyholm M, Johansen BN, Olsen RK, Corydon MJ, Andresen BS, Eiberg H, Kolvraa S, Gregersen N. Bross P, et al. Among authors: eiberg h. Mol Genet Metab. 1999 Jun;67(2):138-47. doi: 10.1006/mgme.1999.2856. Mol Genet Metab. 1999. PMID: 10356313
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: eiberg h. Hum Mol Genet. 1998 Apr;7(4):619-27. doi: 10.1093/hmg/7.4.619. Hum Mol Genet. 1998. PMID: 9499414
Single-nucleotide variations in the genes encoding the mitochondrial Hsp60/Hsp10 chaperone system and their disease-causing potential.
Bross P, Li Z, Hansen J, Hansen JJ, Nielsen MN, Corydon TJ, Georgopoulos C, Ang D, Lundemose JB, Niezen-Koning K, Eiberg H, Yang H, Kølvraa S, Bolund L, Gregersen N. Bross P, et al. Among authors: eiberg h. J Hum Genet. 2007;52(1):56-65. doi: 10.1007/s10038-006-0080-7. Epub 2006 Oct 27. J Hum Genet. 2007. PMID: 17072495
Identification of novel and known mutations in the genes for keratin 5 and 14 in Danish patients with epidermolysis bullosa simplex: correlation between genotype and phenotype.
Sørensen CB, Ladekjaer-Mikkelsen AS, Andresen BS, Brandrup F, Veien NK, Buus SK, Anton-Lamprecht I, Kruse TA, Jensen PK, Eiberg H, Bolund L, Gregersen N. Sørensen CB, et al. Among authors: eiberg h. J Invest Dermatol. 1999 Feb;112(2):184-90. doi: 10.1046/j.1523-1747.1999.00495.x. J Invest Dermatol. 1999. PMID: 9989794 Free article.
A survey of the newborn populations in Belgium, Germany, Poland, Czech Republic, Hungary, Bulgaria, Spain, Turkey, and Japan for the G985 variant allele with haplotype analysis at the medium chain Acyl-CoA dehydrogenase gene locus: clinical and evolutionary consideration.
Tanaka K, Gregersen N, Ribes A, Kim J, Kølvraa S, Winter V, Eiberg H, Martinez G, Deufel T, Leifert B, Santer R, François B, Pronicka E, László A, Kmoch S, Kremensky I, Kalaydjicva L, Ozalp I, Ito M. Tanaka K, et al. Among authors: eiberg h. Pediatr Res. 1997 Feb;41(2):201-9. doi: 10.1203/00006450-199702000-00008. Pediatr Res. 1997. PMID: 9029639
Heat-shock protein 70 genes and human longevity: a view from Denmark.
Singh R, Kølvraa S, Bross P, Christensen K, Gregersen N, Tan Q, Jensen UB, Eiberg H, Rattan SI. Singh R, et al. Among authors: eiberg h. Ann N Y Acad Sci. 2006 May;1067:301-8. doi: 10.1196/annals.1354.040. Ann N Y Acad Sci. 2006. PMID: 16804002
213 results