Schrock E - Search Results

1

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

2

Small reciprocal insertion detected by spectral karyotyping (SKY) and delimited by array-CGH analysis.

Matthaei A, Werner W, Gerlach EM, Koerner U, Tinschert S, Nitz I, Herr A, Rump A, Bartsch O, Hinkel KG, Schrock E, Oexle K. Matthaei A, et al. Among authors: schrock e. Eur J Med Genet. 2005 Jul-Sep;48(3):328-38. doi: 10.1016/j.ejmg.2005.04.024. Eur J Med Genet. 2005. PMID: 16179228

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

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. Anal Cell Pathol (Amst). 2010;33(1):37-54. doi: 10.3233/ACP-CLO-2010-0530. Anal Cell Pathol (Amst). 2010. PMID: 20966543 Free PMC article.

5

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.

6

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

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

Clonal evolution including partial loss of human leukocyte antigen genes favoring extramedullary acute myeloid leukemia relapse after matched related allogeneic hematopoietic stem cell transplantation.

Stölzel F, Hackmann K, Kuithan F, Mohr B, Füssel M, Oelschlägel U, Thiede C, Röllig C, Platzbecker U, Schetelig J, Illmer T, Schaich M, Seliger B, Hartmann A, Baretton G, Zietz C, Ehninger G, Schrock E, Bornhäuser M. Stölzel F, et al. Among authors: schrock e. Transplantation. 2012 Apr 15;93(7):744-9. doi: 10.1097/TP.0b013e3182481113. Transplantation. 2012. PMID: 22314337

9

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

10

De novo microdeletions of chromosome 6q14.1-q14.3 and 6q12.1-q14.1 in two patients with intellectual disability - further delineation of the 6q14 microdeletion syndrome and review of the literature.

Becker K, Di Donato N, Holder-Espinasse M, Andrieux J, Cuisset JM, Vallée L, Plessis G, Jean N, Delobel B, Thuresson AC, Annerén G, Ravn K, Tümer Z, Tinschert S, Schrock E, Jønch AE, Hackmann K. Becker K, et al. Among authors: schrock e. Eur J Med Genet. 2012 Aug-Sep;55(8-9):490-7. doi: 10.1016/j.ejmg.2012.03.003. Epub 2012 Apr 12. Eur J Med Genet. 2012. PMID: 22561202 Review.

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