Gregersen N - Search Results

1

An LDL receptor promoter mutation in a heterozygous FH patient with dramatically skewed ratio between the two allelic mRNA variants.

Jensen LG, Jensen HK, Nissen H, Kristiansen K, Faergeman O, Bolund L, Gregersen N. Jensen LG, et al. Among authors: gregersen n. Hum Mutat. 1996;7(1):82-4. doi: 10.1002/(SICI)1098-1004(1996)7:1<82::AID-HUMU16>3.0.CO;2-O. Hum Mutat. 1996. PMID: 8664911 No abstract available.

2

High sensitivity of the single-strand conformation polymorphism method for detecting sequence variations in the low-density lipoprotein receptor gene validated by DNA sequencing.

Jensen HK, Jensen LG, Hansen PS, Faergeman O, Gregersen N. Jensen HK, et al. Among authors: gregersen n. Clin Chem. 1996 Aug;42(8 Pt 1):1140-6. Clin Chem. 1996. PMID: 8697568

3

A G-1-to-A acceptor splice site LDLR mutant allele leads to reduced relative transcript levels in patients with heterozygous familial hypercholesterolemia.

Jensen HK, Jensen LG, Hansen PS, Bolund L, Faergeman O, Gregersen N. Jensen HK, et al. Among authors: gregersen n. Clin Genet. 1996 Apr;49(4):175-9. doi: 10.1111/j.1399-0004.1996.tb03282.x. Clin Genet. 1996. PMID: 8828981

4

Two point mutations (313 + 1G --> A and 313 + 1G --> T) in the splice donor site of intron 3 of the low-density lipoprotein receptor gene are associated with familial hypercholesterolemia.

Jensen HK, Jensen LG, Hansen PS, Faergeman O, Gregersen N. Jensen HK, et al. Among authors: gregersen n. Hum Mutat. 1996;7(3):269-71. doi: 10.1002/(SICI)1098-1004(1996)7:3<269::AID-HUMU13>3.0.CO;2-0. Hum Mutat. 1996. PMID: 8829662 No abstract available.

5

Allele-specific measurement of low-density lipoprotein receptor transcript levels.

Jensen LG, Jensen HK, Heath F, Eiberg H, Kjeldsen M, Faergeman O, Kølvraa S, Bolund L, Gregersen N. Jensen LG, et al. Among authors: gregersen n. Hum Mutat. 1996;8(2):126-33. doi: 10.1002/(SICI)1098-1004(1996)8:2<126::AID-HUMU4>3.0.CO;2-9. Hum Mutat. 1996. PMID: 8844210

6

Two mutations in the same low-density lipoprotein receptor allele act in synergy to reduce receptor function in heterozygous familial hypercholesterolemia.

Jensen HK, Jensen TG, Faergeman O, Jensen LG, Andresen BS, Corydon MJ, Andreasen PH, Hansen PS, Heath F, Bolund L, Gregersen N. Jensen HK, et al. Among authors: gregersen n. Hum Mutat. 1997;9(5):437-44. doi: 10.1002/(SICI)1098-1004(1997)9:5<437::AID-HUMU10>3.0.CO;2-3. Hum Mutat. 1997. PMID: 9143924

7

Identification of recurrent and novel mutations in the LDL receptor gene in Spanish patients with familial hypercholesterolemia. Mutations in brief no. 135. Online.

Cenarro A, Jensen HK, Casao E, Civeira F, González-Bonillo J, Rodríguez-Rey JC, Gregersen N, Pocoví M. Cenarro A, et al. Among authors: gregersen n. Hum Mutat. 1998;11(5):413. doi: 10.1002/(SICI)1098-1004(1998)11:5<413::AID-HUMU16>3.0.CO;2-I. Hum Mutat. 1998. PMID: 10206683

8

Spectrum of LDL receptor gene mutations in Denmark: implications for molecular diagnostic strategy in heterozygous familial hypercholesterolemia.

Jensen HK, Jensen LG, Meinertz H, Hansen PS, Gregersen N, Faergeman O. Jensen HK, et al. Among authors: gregersen n. Atherosclerosis. 1999 Oct;146(2):337-44. doi: 10.1016/s0021-9150(99)00158-6. Atherosclerosis. 1999. PMID: 10532689

9

Normolipidemia and hypercholesterolemia in persons heterozygous for the same 1592 + 5G --> A splice site mutation in the low-density lipoprotein receptor gene.

Jensen HK, Jensen LG, Holst HU, Andreasen PH, Hansen PS, Larsen ML, Kølvraa S, Bolund L, Gregersen N, Faergeman O. Jensen HK, et al. Among authors: gregersen n. Clin Genet. 1999 Nov;56(5):378-88. doi: 10.1034/j.1399-0004.1999.560506.x. Clin Genet. 1999. PMID: 10668928

10

Genomic structure of the human mitochondrial chaperonin genes: HSP60 and HSP10 are localised head to head on chromosome 2 separated by a bidirectional promoter.

Hansen JJ, Bross P, Westergaard M, Nielsen MN, Eiberg H, Børglum AD, Mogensen J, Kristiansen K, Bolund L, Gregersen N. Hansen JJ, et al. Among authors: gregersen n. Hum Genet. 2003 Jan;112(1):71-7. doi: 10.1007/s00439-002-0837-9. Epub 2002 Oct 16. Hum Genet. 2003. PMID: 12483302

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