Tümer Z - Search Results

1

Deciphering the premature mortality in PIGA-CDG - An untold story.

Bayat A, Kløvgaard M, Johannesen KM, Barakat TS, Kievit A, Montomoli M, Parrini E, Pietrafusa N, Schelhaas J, van Slegtenhorst M, Miya K, Guerrini R, Tranebjærg L, Tümer Z, Rubboli G, Møller RS. Bayat A, et al. Among authors: tumer z. Epilepsy Res. 2021 Feb;170:106530. doi: 10.1016/j.eplepsyres.2020.106530. Epub 2020 Dec 9. Epilepsy Res. 2021. PMID: 33508693 Review.

2

Identification of a novel EYA1 splice-site mutation in a Danish branchio-oto-renal syndrome family.

Henriksen AM, Tümer Z, Tommerup N, Tranebjaerg L, Larsen LA. Henriksen AM, et al. Among authors: tumer z. Genet Test. 2004 Winter;8(4):404-6. doi: 10.1089/gte.2004.8.404. Genet Test. 2004. PMID: 15684871

3

[The genetic basis of epilepsy. The Danish Epilepsy Society].

Hansen CP, Møller R, Tümer Z, Tommerup N; Dansk Epilepsi Selskab. Hansen CP, et al. Among authors: tumer z. Ugeskr Laeger. 2007 Mar 19;169(12):1102. Ugeskr Laeger. 2007. PMID: 17394813 Danish. No abstract available.

4

Interstitial deletion of chromosome 4p associated with mild mental retardation, epilepsy and polymicrogyria of the left temporal lobe.

Møller RS, Hansen CP, Jackson GD, Ullmann R, Ropers HH, Tommerup N, Tümer Z. Møller RS, et al. Among authors: tumer z. Clin Genet. 2007 Dec;72(6):593-8. doi: 10.1111/j.1399-0004.2007.00901.x. Epub 2007 Oct 16. Clin Genet. 2007. PMID: 17941887

5

Balanced translocation in a patient with severe myoclonic epilepsy of infancy disrupts the sodium channel gene SCN1A.

Møller RS, Schneider LM, Hansen CP, Bugge M, Ullmann R, Tommerup N, Tümer Z. Møller RS, et al. Among authors: tumer z. Epilepsia. 2008 Jun;49(6):1091-4. doi: 10.1111/j.1528-1167.2008.01550.x. Epub 2008 Feb 20. Epilepsia. 2008. PMID: 18294202 Free article.

6

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

7

Deletion of 7q34-q36.2 in two siblings with mental retardation, language delay, primary amenorrhea, and dysmorphic features.

Sehested LT, Møller RS, Bache I, Andersen NB, Ullmann R, Tommerup N, Tümer Z. Sehested LT, et al. Among authors: tumer z. Am J Med Genet A. 2010 Dec;152A(12):3115-9. doi: 10.1002/ajmg.a.33476. Am J Med Genet A. 2010. PMID: 21082657

8

High frequency of rare copy number variants affecting functionally related genes in patients with structural brain malformations.

Kariminejad R, Lind-Thomsen A, Tümer Z, Erdogan F, Ropers HH, Tommerup N, Ullmann R, Møller RS. Kariminejad R, et al. Among authors: tumer z. Hum Mutat. 2011 Dec;32(12):1427-35. doi: 10.1002/humu.21585. Epub 2011 Sep 23. Hum Mutat. 2011. PMID: 21882292

9

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. Among authors: tumer z. 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

10

X-linked congenital ptosis and associated intellectual disability, short stature, microcephaly, cleft palate, digital and genital abnormalities define novel Xq25q26 duplication syndrome.

Møller RS, Jensen LR, Maas SM, Filmus J, Capurro M, Hansen C, Marcelis CL, Ravn K, Andrieux J, Mathieu M, Kirchhoff M, Rødningen OK, de Leeuw N, Yntema HG, Froyen G, Vandewalle J, Ballon K, Klopocki E, Joss S, Tolmie J, Knegt AC, Lund AM, Hjalgrim H, Kuss AW, Tommerup N, Ullmann R, de Brouwer AP, Strømme P, Kjaergaard S, Tümer Z, Kleefstra T. Møller RS, et al. Among authors: tumer z. Hum Genet. 2014 May;133(5):625-38. doi: 10.1007/s00439-013-1403-3. Epub 2013 Dec 11. Hum Genet. 2014. PMID: 24326587

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