Brøndum-Nielsen K - Search Results

1

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

2

The A1555G mtDNA mutation in Danish hearing-impaired patients: frequency and clinical signs.

ØStergaard E, Montserrat-Sentis B, Grønskov K, Brøndum-Nielsen K. ØStergaard E, et al. Clin Genet. 2002 Oct;62(4):303-5. doi: 10.1034/j.1399-0004.2002.620408.x. Clin Genet. 2002. PMID: 12372057

3

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

4

[The genome in terms of audiology and ophthalmology].

Tranebjærg L, Rendtorff ND, Brøndum-Nielsen K. Tranebjærg L, et al. Ugeskr Laeger. 2014 Nov 10;176(46):V06140365. Ugeskr Laeger. 2014. PMID: 25394931 Free article. Review. Danish.

5

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

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

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. Scand Audiol. 2001;30(3):184-8. doi: 10.1080/010503901316914557. Scand Audiol. 2001. PMID: 11683456

8

[Screening for fragile X syndrome. International experiences].

Vuust J, Larsen LA, Grønskov K, Nørgaard-Pedersen B, Brøndum-Nielsen K. Vuust J, et al. Ugeskr Laeger. 2006 Oct 23;168(43):3704-9. Ugeskr Laeger. 2006. PMID: 17069733 Review. Danish.

9

[Fragile X chromosomes and fragile X syndrome].

Boonen SE, Grønskov K, Brøndum-Nielsen K. Boonen SE, et al. Ugeskr Laeger. 2006 Oct 23;168(43):3727-8. Ugeskr Laeger. 2006. PMID: 17069739 Danish.

10

Risk for cancer in patients with Bardet-Biedl syndrome and their relatives.

Hjortshøj TD, Grønskov K, Rosenberg T, Brøndum-Nielsen K, Olsen JH. Hjortshøj TD, et al. Am J Med Genet A. 2007 Aug 1;143A(15):1699-702. doi: 10.1002/ajmg.a.31805. Am J Med Genet A. 2007. PMID: 17587209

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