Brøndum-Nielsen 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. 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

Prevalence of GJB2 mutations in prelingual deafness in the Greek population.

Pampanos A, Economides J, Iliadou V, Neou P, Leotsakos P, Voyiatzis N, Eleftheriades N, Tsakanikos M, Antoniadi T, Hatzaki A, Konstantopoulou I, Yannoukakos D, Gronskov K, Brondum-Nielsen K, Grigoriadou M, Gyftodimou J, Iliades T, Skevas A, Petersen MB. Pampanos A, et al. Int J Pediatr Otorhinolaryngol. 2002 Sep 2;65(2):101-8. doi: 10.1016/s0165-5876(02)00177-5. Int J Pediatr Otorhinolaryngol. 2002. PMID: 12176179

3

High carrier frequency of the 35delG deafness mutation in European populations. Genetic Analysis Consortium of GJB2 35delG.

Gasparini P, Rabionet R, Barbujani G, Melçhionda S, Petersen M, Brøndum-Nielsen K, Metspalu A, Oitmaa E, Pisano M, Fortina P, Zelante L, Estivill X. Gasparini P, et al. Eur J Hum Genet. 2000 Jan;8(1):19-23. doi: 10.1038/sj.ejhg.5200406. Eur J Hum Genet. 2000. PMID: 10713883

4

Birth prevalence and mutation spectrum in danish patients with autosomal recessive albinism.

Grønskov K, Ek J, Sand A, Scheller R, Bygum A, Brixen K, Brondum-Nielsen K, Rosenberg T. Grønskov K, et al. Invest Ophthalmol Vis Sci. 2009 Mar;50(3):1058-64. doi: 10.1167/iovs.08-2639. Epub 2008 Dec 5. Invest Ophthalmol Vis Sci. 2009. PMID: 19060277

5

Bardet-Biedl syndrome in Denmark--report of 13 novel sequence variations in six genes.

Hjortshøj TD, Grønskov K, Philp AR, Nishimura DY, Riise R, Sheffield VC, Rosenberg T, Brøndum-Nielsen K. Hjortshøj TD, et al. Hum Mutat. 2010 Apr;31(4):429-36. doi: 10.1002/humu.21204. Hum Mutat. 2010. PMID: 20120035

6

Screening of the ARX gene in 682 retarded males.

Grønskov K, Hjalgrim H, Nielsen IM, Brøndum-Nielsen K. Grønskov K, et al. Eur J Hum Genet. 2004 Sep;12(9):701-5. doi: 10.1038/sj.ejhg.5201222. Eur J Hum Genet. 2004. PMID: 15199382

7

GJB2 and GJB6 mutations in 165 Danish patients showing non-syndromic hearing impairment.

Grønskov K, Larsen LA, Rendtorff ND, Parving A, Nørgaard-Pedersen B, Brøndum-Nielsen K. Grønskov K, et al. Genet Test. 2004 Summer;8(2):181-4. doi: 10.1089/gte.2004.8.181. Genet Test. 2004. PMID: 15345117

8

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.

9

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

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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