Lissewski C - Search Results

1

Cancer spectrum and frequency among children with Noonan, Costello, and cardio-facio-cutaneous syndromes.

Kratz CP, Franke L, Peters H, Kohlschmidt N, Kazmierczak B, Finckh U, Bier A, Eichhorn B, Blank C, Kraus C, Kohlhase J, Pauli S, Wildhardt G, Kutsche K, Auber B, Christmann A, Bachmann N, Mitter D, Cremer FW, Mayer K, Daumer-Haas C, Nevinny-Stickel-Hinzpeter C, Oeffner F, Schlüter G, Gencik M, Überlacker B, Lissewski C, Schanze I, Greene MH, Spix C, Zenker M. Kratz CP, et al. Among authors: lissewski c. Br J Cancer. 2015 Apr 14;112(8):1392-7. doi: 10.1038/bjc.2015.75. Epub 2015 Mar 5. Br J Cancer. 2015. PMID: 25742478 Free PMC article.

2

Copy number variants including RAS pathway genes-How much RASopathy is in the phenotype?

Lissewski C, Kant SG, Stark Z, Schanze I, Zenker M. Lissewski C, et al. Am J Med Genet A. 2015 Nov;167A(11):2685-90. doi: 10.1002/ajmg.a.37155. Epub 2015 May 14. Am J Med Genet A. 2015. PMID: 25974318

3

Genotype and phenotype in patients with Noonan syndrome and a RIT1 mutation.

Kouz K, Lissewski C, Spranger S, Mitter D, Riess A, Lopez-Gonzalez V, Lüttgen S, Aydin H, von Deimling F, Evers C, Hahn A, Hempel M, Issa U, Kahlert AK, Lieb A, Villavicencio-Lorini P, Ballesta-Martinez MJ, Nampoothiri S, Ovens-Raeder A, Puchmajerová A, Satanovskij R, Seidel H, Unkelbach S, Zabel B, Kutsche K, Zenker M. Kouz K, et al. Among authors: lissewski c. Genet Med. 2016 Dec;18(12):1226-1234. doi: 10.1038/gim.2016.32. Epub 2016 Apr 21. Genet Med. 2016. PMID: 27101134 Free article.

4

The novel RAF1 mutation p.(Gly361Ala) located outside the kinase domain of the CR3 region in two patients with Noonan syndrome, including one with a rare brain tumor.

Harms FL, Alawi M, Amor DJ, Tan TY, Cuturilo G, Lissewski C, Brinkmann J, Schanze D, Kutsche K, Zenker M. Harms FL, et al. Among authors: lissewski c. Am J Med Genet A. 2018 Feb;176(2):470-476. doi: 10.1002/ajmg.a.38569. Epub 2017 Dec 22. Am J Med Genet A. 2018. PMID: 29271604

5

Expanding the clinical phenotype of RASopathies in 38 Turkish patients, including the rare LZTR1, RAF1, RIT1 variants, and large deletion in NF1.

Uludağ Alkaya D, Lissewski C, Yeşil G, Zenker M, Tüysüz B. Uludağ Alkaya D, et al. Among authors: lissewski c. Am J Med Genet A. 2021 Dec;185(12):3623-3633. doi: 10.1002/ajmg.a.62410. Epub 2021 Jun 29. Am J Med Genet A. 2021. PMID: 34184824

6

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: lissewski c. 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

7

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: lissewski c. 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

8

Genotype and phenotype spectrum of NRAS germline variants.

Altmüller F, Lissewski C, Bertola D, Flex E, Stark Z, Spranger S, Baynam G, Buscarilli M, Dyack S, Gillis J, Yntema HG, Pantaleoni F, van Loon RL, MacKay S, Mina K, Schanze I, Tan TY, Walsh M, White SM, Niewisch MR, García-Miñaúr S, Plaza D, Ahmadian MR, Cavé H, Tartaglia M, Zenker M. Altmüller F, et al. Among authors: lissewski c. Eur J Hum Genet. 2017 Jun;25(7):823-831. doi: 10.1038/ejhg.2017.65. Epub 2017 May 3. Eur J Hum Genet. 2017. PMID: 28594414 Free PMC article.

9

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: lissewski c. 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.

10

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: lissewski c. 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

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