Schrock E - Search Results

1

Isolation, characterization, and differentiation of progenitor cells from human adult adrenal medulla.

Santana MM, Chung KF, Vukicevic V, Rosmaninho-Salgado J, Kanczkowski W, Cortez V, Hackmann K, Bastos CA, Mota A, Schrock E, Bornstein SR, Cavadas C, Ehrhart-Bornstein M. Santana MM, et al. Among authors: schrock e. Stem Cells Transl Med. 2012 Nov;1(11):783-91. doi: 10.5966/sctm.2012-0022. Epub 2012 Oct 29. Stem Cells Transl Med. 2012. PMID: 23197690 Free PMC article.

2

Interstitial deletion 1p36.32 in two brothers with a distinct phenotype--overgrowth, macrocephaly and nearly normal intellectual function.

Di Donato N, Klink B, Hahn G, Schrock E, Hackmann K. Di Donato N, et al. Among authors: schrock e. Eur J Med Genet. 2014 Sep;57(9):494-7. doi: 10.1016/j.ejmg.2014.05.004. Epub 2014 May 23. Eur J Med Genet. 2014. PMID: 24862882

3

A further patient with van Maldergem syndrome.

Neuhann TM, Müller D, Hackmann K, Holzinger S, Schrock E, Di Donato N. Neuhann TM, et al. Among authors: schrock e. Eur J Med Genet. 2012 Jun;55(6-7):423-8. doi: 10.1016/j.ejmg.2012.02.012. Epub 2012 Mar 13. Eur J Med Genet. 2012. PMID: 22469822

4

Macrocephaly, obesity, mental (intellectual) disability, and ocular abnormalities: alternative definition and further delineation of MOMO syndrome.

Di Donato N, Riess A, Hackmann K, Rump A, Huebner A, von der Hagen M, Hahn G, Schrock E, Tinschert S. Di Donato N, et al. Among authors: schrock e. Am J Med Genet A. 2012 Nov;158A(11):2857-62. doi: 10.1002/ajmg.a.35481. Epub 2012 Jul 20. Am J Med Genet A. 2012. PMID: 22821547

5

Distinct phenotype of PHF6 deletions in females.

Di Donato N, Isidor B, Lopez Cazaux S, Le Caignec C, Klink B, Kraus C, Schrock E, Hackmann K. Di Donato N, et al. Among authors: schrock e. Eur J Med Genet. 2014 Feb;57(2-3):85-9. doi: 10.1016/j.ejmg.2013.12.003. Epub 2013 Dec 28. Eur J Med Genet. 2014. PMID: 24380767

6

PUF60-SCRIB fusion transcript in a patient with 8q24.3 microdeletion and atypical Verheij syndrome.

Abdin D, Rump A, Tzschach A, Sarnow K, Schröck E, Hackmann K, Di Donato N. Abdin D, et al. Among authors: schrock e. Eur J Med Genet. 2019 Dec;62(12):103587. doi: 10.1016/j.ejmg.2018.11.021. Epub 2018 Nov 23. Eur J Med Genet. 2019. PMID: 30472487

7

A new autosomal dominant syndrome of distinctive face showing ptosis and prominent eyes associated with cleft palate, ear anomalies, and learning disability.

Tyshchenko N, Neuhann TM, Gerlach E, Hahn G, Heisch K, Rump A, Schrock E, Tinschert S, Hackmann K. Tyshchenko N, et al. Among authors: schrock e. Am J Med Genet A. 2011 Sep;155A(9):2060-5. doi: 10.1002/ajmg.a.34159. Epub 2011 Aug 10. Am J Med Genet A. 2011. PMID: 21834043

8

Selection of a highly invasive neuroblastoma cell population through long-term human cytomegalovirus infection.

Michaelis M, Barth S, Breitling R, Bruch J, Steinberger D, Rothweiler F, Hackmann K, Schröck E, Doerr HW, Griffin DK, Cinatl J, Cinatl J Jr. Michaelis M, et al. Among authors: schrock e. Oncogenesis. 2012 Apr 30;1(4):e10. doi: 10.1038/oncsis.2012.10. Oncogenesis. 2012. PMID: 23552602 Free PMC article.

9

Severe forms of Baraitser-Winter syndrome are caused by ACTB mutations rather than ACTG1 mutations.

Di Donato N, Rump A, Koenig R, Der Kaloustian VM, Halal F, Sonntag K, Krause C, Hackmann K, Hahn G, Schrock E, Verloes A. Di Donato N, et al. Among authors: schrock e. Eur J Hum Genet. 2014 Feb;22(2):179-83. doi: 10.1038/ejhg.2013.130. Epub 2013 Jun 12. Eur J Hum Genet. 2014. PMID: 23756437 Free PMC article.

10

Novel truncating PPM1D mutation in a patient with intellectual disability.

Porrmann J, Rump A, Hackmann K, Di Donato N, Kahlert AK, Wagner J, Jahn A, Eger I, Flury M, Schrock E, Tzschach A, Gieldon L. Porrmann J, et al. Among authors: schrock e. Eur J Med Genet. 2019 Jan;62(1):70-72. doi: 10.1016/j.ejmg.2018.05.006. Epub 2018 May 11. Eur J Med Genet. 2019. PMID: 29758292

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