Schrock E - Search Results

1

Author Correction: Variants in exons 5 and 6 of ACTB cause syndromic thrombocytopenia.

Latham SL, Ehmke N, Reinke PYA, Taft MH, Eicke D, Reindl T, Stenzel W, Lyons MJ, Friez MJ, Lee JA, Hecker R, Frühwald MC, Becker K, Neuhann TM, Horn D, Schrock E, Niehaus I, Sarnow K, Grützmann K, Gawehn L, Klink B, Rump A, Chaponnier C, Figueiredo C, Knöfler R, Manstein DJ, Di Donato N. Latham SL, et al. Among authors: schrock e. Nat Commun. 2018 Nov 19;9(1):4930. doi: 10.1038/s41467-018-07404-6. Nat Commun. 2018. PMID: 30451859 Free PMC article.

2

High-resolution analysis of chromosomal imbalances using the Affymetrix 10K SNP genotyping chip.

Herr A, Grützmann R, Matthaei A, Artelt J, Schröck E, Rump A, Pilarsky C. Herr A, et al. Among authors: schrock e. Genomics. 2005 Mar;85(3):392-400. doi: 10.1016/j.ygeno.2004.07.015. Genomics. 2005. PMID: 15718106

3

1.6Mb deletion in chromosome band 3q29 associated with eye abnormalities.

Tyshchenko N, Hackmann K, Gerlach EM, Neuhann T, Schrock E, Tinschert S. Tyshchenko N, et al. Among authors: schrock e. Eur J Med Genet. 2009 Mar-Jun;52(2-3):128-30. doi: 10.1016/j.ejmg.2009.03.002. Epub 2009 Mar 17. Eur J Med Genet. 2009. PMID: 19298871

4

Homozygous loss of CHRNA7 on chromosome 15q13.3 causes severe encephalopathy with seizures and hypotonia.

Endris V, Hackmann K, Neuhann TM, Grasshoff U, Bonin M, Haug U, Hahn G, Schallner JC, Schröck E, Tinschert S, Rappold G, Moog U. Endris V, et al. Among authors: schrock e. Am J Med Genet A. 2010 Nov;152A(11):2908-11. doi: 10.1002/ajmg.a.33692. Am J Med Genet A. 2010. PMID: 20979196 No abstract available.

5

Glioblastomas with oligodendroglial component-common origin of the different histological parts and genetic subclassification.

Klink B, Schlingelhof B, Klink M, Stout-Weider K, Patt S, Schrock E. Klink B, et al. Among authors: schrock e. Cell Oncol (Dordr). 2011 Jun;34(3):261-75. doi: 10.1007/s13402-011-0034-8. Epub 2011 May 3. Cell Oncol (Dordr). 2011. PMID: 21538026

6

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

7

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

8

Partial deletion of GLRB and GRIA2 in a patient with intellectual disability.

Hackmann K, Matko S, Gerlach EM, von der Hagen M, Klink B, Schrock E, Rump A, Di Donato N. Hackmann K, et al. Among authors: schrock e. Eur J Hum Genet. 2013 Jan;21(1):112-4. doi: 10.1038/ejhg.2012.97. Epub 2012 Jun 6. Eur J Hum Genet. 2013. PMID: 22669415 Free PMC article.

9

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

10

Germline truncating-mutations in BRCA1 and MSH6 in a patient with early onset endometrial cancer.

Kast K, Neuhann TM, Görgens H, Becker K, Keller K, Klink B, Aust D, Distler W, Schröck E, Schackert HK. Kast K, et al. Among authors: schrock e. BMC Cancer. 2012 Nov 20;12:531. doi: 10.1186/1471-2407-12-531. BMC Cancer. 2012. PMID: 23164213 Free PMC article.

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