Grønskov K - Search Results

1

Mutation analysis of the GJB2 (connexin 26) gene by DGGE in Greek patients with sensorineural deafness.

Antoniadi T, Grønskov K, Sand A, Pampanos A, Brøndum-Nielsen K, Petersen MB. Antoniadi T, et al. Among authors: gronskov k. Hum Mutat. 2000;16(1):7-12. doi: 10.1002/1098-1004(200007)16:1<7::AID-HUMU2>3.0.CO;2-A. Hum Mutat. 2000. PMID: 10874298

2

Genetic and Clinical Characterization of Danish Achromatopsia Patients.

Andersen MKG, Bertelsen M, Grønskov K, Kohl S, Kessel L. Andersen MKG, et al. Among authors: gronskov k. Genes (Basel). 2023 Mar 10;14(3):690. doi: 10.3390/genes14030690. Genes (Basel). 2023. PMID: 36980963 Free PMC article.

3

RBP4-related eye disease in a Danish family with retinitis pigmentosa and congenital ocular malformations.

Kessel L, Bertelsen M, Grønskov K. Kessel L, et al. Among authors: gronskov k. Ophthalmic Genet. 2022 Dec;43(6):876-881. doi: 10.1080/13816810.2022.2141789. Epub 2022 Oct 31. Ophthalmic Genet. 2022. PMID: 36317196

4

Genetic Modifiers of Non-Penetrance and RNA Expression Levels in PRPF31-Associated Retinitis Pigmentosa in a Danish Cohort.

Lisbjerg K, Grønskov K, Bertelsen M, Møller LB, Kessel L. Lisbjerg K, et al. Among authors: gronskov k. Genes (Basel). 2023 Feb 8;14(2):435. doi: 10.3390/genes14020435. Genes (Basel). 2023. PMID: 36833363 Free PMC article.

5

Germline (epi)genetics reveals high predisposition in females: a 5-year, nationwide, prospective Wilms tumour cohort.

Stoltze UK, Hildonen M, Hansen TVO, Foss-Skiftesvik J, Byrjalsen A, Lundsgaard M, Pignata L, Grønskov K, Tumer Z, Schmiegelow K, Brok JS, Wadt KAW. Stoltze UK, et al. Among authors: gronskov k. J Med Genet. 2023 Sep;60(9):842-849. doi: 10.1136/jmg-2022-108982. Epub 2023 Apr 5. J Med Genet. 2023. PMID: 37019617 Free PMC article.

6

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

7

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.

8

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

9

[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.

10

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

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