Brøndum-Nielsen K - Search Results

1

Two new cases with microdeletion of 17q23.2 suggest presence of a candidate gene for sensorineural hearing loss within this region.

Schönewolf-Greulich B, Ronan A, Ravn K, Baekgaard P, Lodahl M, Nielsen K, Rendtorff ND, Tranebjaerg L, Brøndum-Nielsen K, Tümer Z. Schönewolf-Greulich B, et al. Am J Med Genet A. 2011 Dec;155A(12):2964-9. doi: 10.1002/ajmg.a.34302. Epub 2011 Nov 3. Am J Med Genet A. 2011. PMID: 22052739

2

Partial duplication of 13q31.3-q34 and deletion of 13q34 associated with diaphragmatic hernia as a sole malformation in a fetus.

Jønch AE, Larsen LG, Pouplier S, Nielsen K, Brøndum-Nielsen K, Tümer Z. Jønch AE, et al. Am J Med Genet A. 2012 Sep;158A(9):2302-8. doi: 10.1002/ajmg.a.35505. Epub 2012 Jul 27. Am J Med Genet A. 2012. PMID: 22847911

3

Segregation of a 4p16.3 duplication with a characteristic appearance, macrocephaly, speech delay and mild intellectual disability in a 3-generation family.

Schönewolf-Greulich B, Ravn K, Hamborg-Petersen B, Brøndum-Nielsen K, Tümer Z. Schönewolf-Greulich B, et al. Am J Med Genet A. 2013 Sep;161A(9):2358-62. doi: 10.1002/ajmg.a.36099. Epub 2013 Jul 25. Am J Med Genet A. 2013. PMID: 23894085

4

Subtelomeric study of 132 patients with mental retardation reveals 9 chromosomal anomalies and contributes to the delineation of submicroscopic deletions of 1pter, 2qter, 4pter, 5qter and 9qter.

Sogaard M, Tümer Z, Hjalgrim H, Hahnemann J, Friis B, Ledaal P, Pedersen VF, Baekgaard P, Tommerup N, Cingöz S, Duno M, Brondum-Nielsen K. Sogaard M, et al. BMC Med Genet. 2005 May 17;6:21. doi: 10.1186/1471-2350-6-21. BMC Med Genet. 2005. PMID: 15904506 Free PMC article.

5

Deletions and rearrangements of the H19/IGF2 enhancer region in patients with Silver-Russell syndrome and growth retardation.

Grønskov K, Poole RL, Hahnemann JM, Thomson J, Tümer Z, Brøndum-Nielsen K, Murphy R, Ravn K, Melchior L, Dedic A, Dolmer B, Temple IK, Boonen SE, Mackay DJ. Grønskov K, et al. J Med Genet. 2011 May;48(5):308-11. doi: 10.1136/jmg.2010.086504. Epub 2011 Jan 28. J Med Genet. 2011. PMID: 21278389

6

[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.

7

Blepharophimosis, corneal vascularization, deafness, and acroosteolysis: a "new" syndrome?

Warburg M, Ullman S, Jensen H, Pedersen H, Kobayashi T, Russell B, Tranebjaerg L, Richard G, Brøndum-Nielsen K. Warburg M, et al. Am J Med Genet A. 2006 Dec 15;140(24):2709-13. doi: 10.1002/ajmg.a.31543. Am J Med Genet A. 2006. PMID: 17103436

8

Characterization of a supernumerary small marker X chromosome in two females with similar phenotypes.

Tümer Z, Wolff D, Silahtaroglu AN, Orum A, Brøndum-Nielsen K. Tümer Z, et al. Am J Med Genet. 1998 Feb 26;76(1):45-50. Am J Med Genet. 1998. PMID: 9508064

9

Delineation of an interstitial 9q22 deletion in basal cell nevus syndrome.

Boonen SE, Stahl D, Kreiborg S, Rosenberg T, Kalscheuer V, Larsen LA, Tommerup N, Brøndum-Nielsen K, Tümer Z. Boonen SE, et al. Am J Med Genet A. 2005 Jan 30;132A(3):324-8. doi: 10.1002/ajmg.a.30422. Am J Med Genet A. 2005. PMID: 15690381 Review.

10

11p Microdeletion including WT1 but not PAX6, presenting with cataract, mental retardation, genital abnormalities and seizures: a case report.

Almind GJ, Brøndum-Nielsen K, Bangsgaard R, Baekgaard P, Grønskov K. Almind GJ, et al. Mol Cytogenet. 2009 Feb 17;2:6. doi: 10.1186/1755-8166-2-6. Mol Cytogenet. 2009. PMID: 19222835 Free PMC article.

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