Tümer Z - Search Results

1

A homozygous mutation in a consanguineous family consolidates the role of ALDH1A3 in autosomal recessive microphthalmia.

Roos L, Fang M, Dali C, Jensen H, Christoffersen N, Wu B, Zhang J, Xu R, Harris P, Xu X, Grønskov K, Tümer Z. Roos L, et al. Among authors: tumer z. Clin Genet. 2014 Sep;86(3):276-81. doi: 10.1111/cge.12277. Epub 2013 Oct 25. Clin Genet. 2014. PMID: 24024553

2

X-linked recessive Menkes disease: identification of partial gene deletions in affected males.

Poulsen L, Horn N, Heilstrup H, Lund C, Tümer Z, Møller LB. Poulsen L, et al. Among authors: tumer z. Clin Genet. 2002 Dec;62(6):449-57. doi: 10.1034/j.1399-0004.2002.620605.x. Clin Genet. 2002. PMID: 12485192

3

Cytogenetically invisible microdeletions involving PITX2 in Rieger syndrome.

Engenheiro E, Saraiva J, Carreira I, Ramos L, Ropers HH, Silva E, Tommerup N, Tümer Z. Engenheiro E, et al. Among authors: tumer z. Clin Genet. 2007 Nov;72(5):464-70. doi: 10.1111/j.1399-0004.2007.00879.x. Epub 2007 Sep 10. Clin Genet. 2007. PMID: 17850355

4

Mowat-Wilson syndrome: an underdiagnosed syndrome?

Engenheiro E, Møller RS, Pinto M, Soares G, Nikanorova M, Carreira IM, Ullmann R, Tommerup N, Tümer Z. Engenheiro E, et al. Among authors: tumer z. Clin Genet. 2008 Jun;73(6):579-84. doi: 10.1111/j.1399-0004.2008.00997.x. Epub 2008 Apr 28. Clin Genet. 2008. PMID: 18445050

5

A duplication encompassing the SHOX gene and the downstream evolutionarily conserved sequences.

Roos L, Brøndum Nielsen K, Tümer Z. Roos L, et al. Among authors: tumer z. Am J Med Genet A. 2009 Dec;149A(12):2900-1. doi: 10.1002/ajmg.a.33118. Am J Med Genet A. 2009. PMID: 19938087 No abstract available.

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. Among authors: tumer z. 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

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. Among authors: tumer z. 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

8

Novel heterozygous nonsense mutation of the OPTN gene segregating in a Danish family with ALS.

Tümer Z, Bertelsen B, Gredal O, Magyari M, Nielsen KC, Lucamp, Grønskov K, Brøndum-Nielsen K. Tümer Z, et al. Neurobiol Aging. 2012 Jan;33(1):208.e1-5. doi: 10.1016/j.neurobiolaging.2011.07.001. Epub 2011 Aug 26. Neurobiol Aging. 2012. PMID: 21852022

9

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. Among authors: tumer z. 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.

10

[The genetic background for the eye malformations anophthalmia and microphthalmia].

Roos LS, Grønskov K, Jensen H, Tümer Z. Roos LS, et al. Among authors: tumer z. Ugeskr Laeger. 2012 Mar 12;174(11):713-6. Ugeskr Laeger. 2012. PMID: 22409892 Danish.

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