Tumer Z - Search Results

1

Germline (epi)genetics reveals high predisposition in females: a 5-year, nationwide, prospective Wilms tumour cohort.

Stoltze UK, Hildonen M, Hansen TVO, Foss-Skiftesvik J, Byrjalsen A, Lundsgaard M, Pignata L, Grønskov K, Tumer Z, Schmiegelow K, Brok JS, Wadt KAW. Stoltze UK, et al. Among authors: tumer z. J Med Genet. 2023 Sep;60(9):842-849. doi: 10.1136/jmg-2022-108982. Epub 2023 Apr 5. J Med Genet. 2023. PMID: 37019617 Free PMC article.

2

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

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. 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

4

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

5

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.

6

[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.

7

Transient neonatal diabetes, ZFP57, and hypomethylation of multiple imprinted loci: a detailed follow-up.

Boonen SE, Mackay DJ, Hahnemann JM, Docherty L, Grønskov K, Lehmann A, Larsen LG, Haemers AP, Kockaerts Y, Dooms L, Vu DC, Ngoc CT, Nguyen PB, Kordonouri O, Sundberg F, Dayanikli P, Puthi V, Acerini C, Massoud AF, Tümer Z, Temple IK. Boonen SE, et al. Among authors: tumer z. Diabetes Care. 2013 Mar;36(3):505-12. doi: 10.2337/dc12-0700. Epub 2012 Nov 12. Diabetes Care. 2013. PMID: 23150280 Free PMC article.

8

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

9

Mosaicism for c.431_454dup in ARX causes a mild Partington syndrome phenotype.

Grønskov K, Diness B, Stahlhut M, Zilmer M, Tümer Z, Bisgaard AM, Brøndum-Nielsen K. Grønskov K, et al. Among authors: tumer z. Eur J Med Genet. 2014 May-Jun;57(6):284-7. doi: 10.1016/j.ejmg.2014.03.009. Epub 2014 Apr 13. Eur J Med Genet. 2014. PMID: 24727054

10

Case report: a novel KERA mutation associated with cornea plana and its predicted effect on protein function.

Roos L, Bertelsen B, Harris P, Bygum A, Jensen H, Grønskov K, Tümer Z. Roos L, et al. Among authors: tumer z. BMC Med Genet. 2015 Jun 23;16:40. doi: 10.1186/s12881-015-0179-9. BMC Med Genet. 2015. PMID: 26099342 Free PMC article.

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