Zenker M - Search Results

1

Familial cardiofaciocutaneous syndrome in a father and a son with a novel MEK2 mutation.

Karaer K, Lissewski C, Zenker M. Karaer K, et al. Among authors: zenker m. Am J Med Genet A. 2015 Feb;167A(2):385-8. doi: 10.1002/ajmg.a.36429. Epub 2014 Dec 8. Am J Med Genet A. 2015. PMID: 25487361

2

Novel BRAF mutation in a patient with LEOPARD syndrome and normal intelligence.

Koudova M, Seemanova E, Zenker M. Koudova M, et al. Among authors: zenker m. Eur J Med Genet. 2009 Sep-Oct;52(5):337-40. doi: 10.1016/j.ejmg.2009.04.006. Epub 2009 May 4. Eur J Med Genet. 2009. PMID: 19416762

3

Cardio-facio-cutaneous syndrome: does genotype predict phenotype?

Allanson JE, Annerén G, Aoki Y, Armour CM, Bondeson ML, Cave H, Gripp KW, Kerr B, Nystrom AM, Sol-Church K, Verloes A, Zenker M. Allanson JE, et al. Among authors: zenker m. Am J Med Genet C Semin Med Genet. 2011 May 15;157C(2):129-35. doi: 10.1002/ajmg.c.30295. Epub 2011 Apr 14. Am J Med Genet C Semin Med Genet. 2011. PMID: 21495173 Free PMC article.

4

Clinical and molecular analysis of RASopathies in a group of Turkish patients.

Şimşek-Kiper PÖ, Alanay Y, Gülhan B, Lissewski C, Türkyilmaz D, Alehan D, Cetin M, Utine GE, Zenker M, Boduroğlu K. Şimşek-Kiper PÖ, et al. Among authors: zenker m. Clin Genet. 2013 Feb;83(2):181-6. doi: 10.1111/j.1399-0004.2012.01875.x. Epub 2012 Apr 9. Clin Genet. 2013. PMID: 22420426

5

Health and quality of life in adults with Noonan syndrome.

Binder G, Grathwol S, von Loeper K, Blumenstock G, Kaulitz R, Freiberg C, Webel M, Lissewski C, Zenker M, Paul T. Binder G, et al. Among authors: zenker m. J Pediatr. 2012 Sep;161(3):501-505.e1. doi: 10.1016/j.jpeds.2012.02.043. Epub 2012 Apr 10. J Pediatr. 2012. PMID: 22494877

6

A new nonsense mutation in the NF1 gene with neurofibromatosis-Noonan syndrome phenotype.

Yimenicioğlu S, Yakut A, Karaer K, Zenker M, Ekici A, Carman KB. Yimenicioğlu S, et al. Among authors: zenker m. Childs Nerv Syst. 2012 Dec;28(12):2181-3. doi: 10.1007/s00381-012-1905-7. Epub 2012 Sep 11. Childs Nerv Syst. 2012. PMID: 22965773

7

Functional analysis of a duplication (p.E63_D69dup) in the switch II region of HRAS: new aspects of the molecular pathogenesis underlying Costello syndrome.

Lorenz S, Lissewski C, Simsek-Kiper PO, Alanay Y, Boduroglu K, Zenker M, Rosenberger G. Lorenz S, et al. Among authors: zenker m. Hum Mol Genet. 2013 Apr 15;22(8):1643-53. doi: 10.1093/hmg/ddt014. Epub 2013 Jan 17. Hum Mol Genet. 2013. PMID: 23335589

8

Fraser syndrome due to mutations in GRIP1--clinical phenotype in two families and expansion of the mutation spectrum.

Schanze D, Kayserili H, Satkın BN, Altunoglu U, Zenker M. Schanze D, et al. Among authors: zenker m. Am J Med Genet A. 2014 Mar;164A(3):837-40. doi: 10.1002/ajmg.a.36343. Epub 2013 Dec 19. Am J Med Genet A. 2014. PMID: 24357607 No abstract available.

9

Clinical and Molecular Findings of Tunisian Patients with RASopathies.

Louati R, Abdelmoula NB, Trabelsi I, Abid D, Lissewski C, Kharrat N, Kamoun S, Zenker M, Rebai T. Louati R, et al. Among authors: zenker m. Mol Syndromol. 2014 Aug;5(5):212-7. doi: 10.1159/000362898. Epub 2014 May 23. Mol Syndromol. 2014. PMID: 25337068 Free PMC article.

10

Hydrops, fetal pleural effusions and chylothorax in three patients with CBL mutations.

Bülow L, Lissewski C, Bressel R, Rauch A, Stark Z, Zenker M, Bartsch O. Bülow L, et al. Among authors: zenker m. Am J Med Genet A. 2015 Feb;167A(2):394-9. doi: 10.1002/ajmg.a.36838. Epub 2014 Oct 30. Am J Med Genet A. 2015. PMID: 25358541 Free article.

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