Brondum-Nielsen K - Search Results

1

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.

2

Additional chromosomal abnormalities in patients with a previously detected abnormal karyotype, mental retardation, and dysmorphic features.

Bisgaard AM, Kirchhoff M, Tümer Z, Jepsen B, Brøndum-Nielsen K, Cohen M, Hamborg-Petersen B, Bryndorf T, Tommerup N, Skovby F. Bisgaard AM, et al. Am J Med Genet A. 2006 Oct 15;140(20):2180-7. doi: 10.1002/ajmg.a.31425. Am J Med Genet A. 2006. PMID: 16955412

3

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

4

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.

5

Human CCS gene: genomic organization and exclusion as a candidate for amyotrophic lateral sclerosis (ALS).

Silahtaroglu AN, Brondum-Nielsen K, Gredal O, Werdelin L, Panas M, Petersen MB, Tommerup N, Tümer Z. Silahtaroglu AN, et al. BMC Genet. 2002 Apr 19;3:5. doi: 10.1186/1471-2156-3-5. BMC Genet. 2002. PMID: 11991808 Free PMC article.

6

Interstitial deletion of 14q24.3-q32.2 in a male patient with plagiocephaly, BPES features, developmental delay, and congenital heart defects.

Cingöz S, Bache I, Bjerglund L, Ropers HH, Tommerup N, Jensen H, Brøndum-Nielsen K, Tümer Z. Cingöz S, et al. Am J Med Genet A. 2011 Jan;155A(1):203-6. doi: 10.1002/ajmg.a.33766. Am J Med Genet A. 2011. PMID: 21204233

7

No evidence for pathogenic variants or maternal effect of ZFP57 as the cause of Beckwith-Wiedemann Syndrome.

Boonen SE, Hahnemann JM, Mackay D, Tommerup N, Brøndum-Nielsen K, Tümer Z, Grønskov K. Boonen SE, et al. Eur J Hum Genet. 2012 Jan;20(1):119-21. doi: 10.1038/ejhg.2011.140. Epub 2011 Aug 24. Eur J Hum Genet. 2012. PMID: 21863059 Free PMC article.

8

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

9

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

10

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

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