Grønskov K - Search Results

1

Generation of induced pluripotent stem cells, KCi001-A derived from a Bardet-Biedl syndrome patient compound heterozygous for the BBS1 variants c.1169T>G/c.1135G>C.

Hey CAB, Saltõkowa KB, Larsen LJ, Tümer Z, Brøndum-Nielsen K, Grønskov K, Hjortshøj TD, Møller LB. Hey CAB, et al. Among authors: gronskov k. Stem Cell Res. 2018 Aug;31:235-239. doi: 10.1016/j.scr.2018.08.005. Epub 2018 Aug 10. Stem Cell Res. 2018. PMID: 30142598 Free article.

2

High-throughput analysis of fragile X (CGG)n alleles in the normal and premutation range by PCR amplification and automated capillary electrophoresis.

Larsen LA, Grønskov K, Nørgaard-Pedersen B, Brøndum-Nielsen K, Hasholt L, Vuust J. Larsen LA, et al. Among authors: gronskov k. Hum Genet. 1997 Oct;100(5-6):564-8. doi: 10.1007/s004390050552. Hum Genet. 1997. PMID: 9341871

3

Deletion of all CGG repeats plus flanking sequences in FMR1 does not abolish gene expression.

Grønskov K, Hjalgrim H, Bjerager MO, Brøndum-Nielsen K. Grønskov K, et al. Am J Hum Genet. 1997 Oct;61(4):961-7. doi: 10.1086/514872. Am J Hum Genet. 1997. PMID: 9382110 Free PMC article.

4

Mutational analysis of the FMR1 gene in 118 mentally retarded males suspected of fragile X syndrome: absence of prevalent mutations.

Grønskov K, Hallberg A, Brøndum-Nielsen K. Grønskov K, et al. Hum Genet. 1998 Apr;102(4):440-5. doi: 10.1007/s004390050718. Hum Genet. 1998. PMID: 9600241

5

[Fragile X syndrome. Diagnosis, genetics and clinical findings].

Hjalgrim H, Grønskov K, Brøndum-Nielsen K. Hjalgrim H, et al. Among authors: gronskov k. Ugeskr Laeger. 1998 Sep 7;160(37):5330-4. Ugeskr Laeger. 1998. PMID: 9748856 Review. Danish.

6

Mutational analysis of PAX6: 16 novel mutations including 5 missense mutations with a mild aniridia phenotype.

Grønskov K, Rosenberg T, Sand A, Brøndum-Nielsen K. Grønskov K, et al. Eur J Hum Genet. 1999 Apr;7(3):274-86. doi: 10.1038/sj.ejhg.5200308. Eur J Hum Genet. 1999. PMID: 10234503

7

Analysis of FMR1 (CGG)n alleles and FRAXA microsatellite haplotypes in the population of Greenland: implications for the population of the New World from Asia.

Larsen LA, Armstrong JS, Grønskov K, Hjalgrim H, Brøndum-Nielsen K, Hasholt L, Nørgaard-Pedersen B, Vuust J. Larsen LA, et al. Among authors: gronskov k. Eur J Hum Genet. 1999 Oct-Nov;7(7):771-7. doi: 10.1038/sj.ejhg.5200374. Eur J Hum Genet. 1999. PMID: 10573009

8

Haplotype and AGG-interspersion analysis of FMR1 (CGG)(n) alleles in the Danish population: implications for multiple mutational pathways towards fragile X alleles.

Larsen LA, Armstrong JS, Grønskov K, Hjalgrim H, Macpherson JN, Brøndum-Nielsen K, Hasholt L, Nørgaard-Pedersen B, Vuust J. Larsen LA, et al. Among authors: gronskov k. Am J Med Genet. 2000 Jul 17;93(2):99-106. doi: 10.1002/1096-8628(20000717)93:2<99::aid-ajmg4>3.0.co;2-w. Am J Med Genet. 2000. PMID: 10869110

9

Population-based risk estimates of Wilms tumor in sporadic aniridia. A comprehensive mutation screening procedure of PAX6 identifies 80% of mutations in aniridia.

Grønskov K, Olsen JH, Sand A, Pedersen W, Carlsen N, Bak Jylling AM, Lyngbye T, Brøndum-Nielsen K, Rosenberg T. Grønskov K, et al. Hum Genet. 2001 Jul;109(1):11-8. doi: 10.1007/s004390100529. Hum Genet. 2001. PMID: 11479730

10

Is there a relationship between U-shaped audiograms and mutations in connexin 26?

Jacobsen SD, Gronskov K, Brondum-Nielsen K, Parving A. Jacobsen SD, et al. Among authors: gronskov k. Scand Audiol. 2001;30(3):184-8. doi: 10.1080/010503901316914557. Scand Audiol. 2001. PMID: 11683456

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