Zenker M - Search Results

1

A novel mutation in the FRAS1 gene in a patient with Fraser syndrome.

Ozemri Sag S, Gorukmez O, Gorukmez O, Ture M, Sahinturk S, Topak A, Gulten T, Schanze D, Yakut T, Zenker M. Ozemri Sag S, et al. Among authors: zenker m. Genet Couns. 2015;26(1):21-7. Genet Couns. 2015. PMID: 26043503

2

Manitoba-oculo-tricho-anal (MOTA) syndrome is caused by mutations in FREM1.

Slavotinek AM, Baranzini SE, Schanze D, Labelle-Dumais C, Short KM, Chao R, Yahyavi M, Bijlsma EK, Chu C, Musone S, Wheatley A, Kwok PY, Marles S, Fryns JP, Maga AM, Hassan MG, Gould DB, Madireddy L, Li C, Cox TC, Smyth I, Chudley AE, Zenker M. Slavotinek AM, et al. Among authors: zenker m. J Med Genet. 2011 Jun;48(6):375-82. doi: 10.1136/jmg.2011.089631. Epub 2011 Apr 20. J Med Genet. 2011. PMID: 21507892 Free PMC article.

3

Clinical and molecular studies in two families with Fraser syndrome: a new FRAS1 gene mutation, prenatal ultrasound findings and implications for genetic counselling.

Ogur G, Zenker M, Tosun M, Ekici F, Schanze D, Ozyilmaz B, Malatyalioglu E. Ogur G, et al. Among authors: zenker m. Genet Couns. 2011;22(3):233-44. Genet Couns. 2011. PMID: 22029163

4

Mutations in GRIP1 cause Fraser syndrome.

Vogel MJ, van Zon P, Brueton L, Gijzen M, van Tuil MC, Cox P, Schanze D, Kariminejad A, Ghaderi-Sohi S, Blair E, Zenker M, Scambler PJ, Ploos van Amstel HK, van Haelst MM. Vogel MJ, et al. Among authors: zenker m. J Med Genet. 2012 May;49(5):303-6. doi: 10.1136/jmedgenet-2011-100590. Epub 2012 Apr 17. J Med Genet. 2012. PMID: 22510445

5

MOTA Syndrome: Molecular Genetic Confirmation of the Diagnosis in a Newborn with Previously Unreported Clinical Features.

Mitter D, Schanze D, Sterker I, Müller D, Till H, Zenker M. Mitter D, et al. Among authors: zenker m. Mol Syndromol. 2012 Sep;3(3):136-139. doi: 10.1159/000341501. Epub 2012 Jul 25. Mol Syndromol. 2012. PMID: 23112756 Free PMC article.

6

Ablepharon macrostomia syndrome: A distinct genetic entity clinically related to the group of FRAS-FREM complex disorders.

Schanze D, Harakalova M, Stevens CA, Brancati F, Dallapiccola B, Farndon P, Ferraz VE, McDonald-McGinn DM, Zackai EH, Wright M, van Lieshout S, Vogel MJ, van Haelst MM, Zenker M. Schanze D, et al. Among authors: zenker m. Am J Med Genet A. 2013 Dec;161A(12):3012-7. doi: 10.1002/ajmg.a.36119. Epub 2013 Sep 24. Am J Med Genet A. 2013. PMID: 24115501

7

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.

8

Novel FREM1 mutations in a patient with MOTA syndrome: Clinical findings, mutation update and review of FREM1-related disorders literature.

Chacon-Camacho OF, Zenker M, Schanze D, Ledesma-Gil J, Zenteno JC. Chacon-Camacho OF, et al. Among authors: zenker m. Eur J Med Genet. 2017 Mar;60(3):190-194. doi: 10.1016/j.ejmg.2017.01.005. Epub 2017 Jan 19. Eur J Med Genet. 2017. PMID: 28111185 Review.

9

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: zenker m. 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

10

Midro AT, Stasiewicz-Jarocka B, Borys J, Hubert E, Skotnicka B, Hassmann-Poznańska E, Sierpińska T, Panasiuk B, Schanze D, Zenker M. Midro AT, et al. Among authors: zenker m. Am J Med Genet A. 2020 Apr;182(4):773-779. doi: 10.1002/ajmg.a.61495. Epub 2020 Jan 30. Am J Med Genet A. 2020. PMID: 31999076

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