Tümer Z - Search Results

1

Prenatal molecular testing for Beckwith-Wiedemann and Silver-Russell syndromes: a challenge for molecular analysis and genetic counseling.

Eggermann T, Brioude F, Russo S, Lombardi MP, Bliek J, Maher ER, Larizza L, Prawitt D, Netchine I, Gonzales M, Grønskov K, Tümer Z, Monk D, Mannens M, Chrzanowska K, Walasek MK, Begemann M, Soellner L, Eggermann K, Tenorio J, Nevado J, Moore GE, Mackay DJ, Temple K, Gillessen-Kaesbach G, Ogata T, Weksberg R, Algar E, Lapunzina P. Eggermann T, et al. Among authors: tumer z. Eur J Hum Genet. 2016 Jun;24(6):784-93. doi: 10.1038/ejhg.2015.224. Epub 2015 Oct 28. Eur J Hum Genet. 2016. PMID: 26508573 Free PMC article. Review.

2

Molecular cytogenetic detection of 9q34 breakpoints associated with nail patella syndrome.

Silahtaroglu A, Hol FA, Jensen PK, Erdel M, Duba HC, Geurds MP, Knoers NV, Mariman EC, Tümer Z, Utermann G, Wirth J, Bugge M, Tommerup N. Silahtaroglu A, et al. Among authors: tumer z. Eur J Hum Genet. 1999 Jan;7(1):68-76. doi: 10.1038/sj.ejhg.5200260. Eur J Hum Genet. 1999. PMID: 10094193

3

Axenfeld-Rieger syndrome and spectrum of PITX2 and FOXC1 mutations.

Tümer Z, Bach-Holm D. Tümer Z, et al. Eur J Hum Genet. 2009 Dec;17(12):1527-39. doi: 10.1038/ejhg.2009.93. Epub 2009 Jun 10. Eur J Hum Genet. 2009. PMID: 19513095 Free PMC article. Review.

4

Menkes disease.

Tümer Z, Møller LB. Tümer Z, et al. Eur J Hum Genet. 2010 May;18(5):511-8. doi: 10.1038/ejhg.2009.187. Epub 2009 Nov 4. Eur J Hum Genet. 2010. PMID: 19888294 Free PMC article. Review.

5

Clinical utility gene card for: Axenfeld-Rieger syndrome.

Weisschuh N, De Baere E, Wissinger B, Tümer Z. Weisschuh N, et al. Among authors: tumer z. Eur J Hum Genet. 2011 Mar;19(3). doi: 10.1038/ejhg.2010.163. Epub 2010 Oct 13. Eur J Hum Genet. 2011. PMID: 20940740 Free PMC article. No abstract available.

6

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

7

Clinical utility gene card for: Menkes disease.

Tümer Z, Klomp L. Tümer Z, et al. Eur J Hum Genet. 2011 Oct;19(10). doi: 10.1038/ejhg.2011.56. Epub 2011 Apr 13. Eur J Hum Genet. 2011. PMID: 21487442 Free PMC article. No abstract available.

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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