Zschocke J - Search Results

1

A novel germline POLE mutation causes an early onset cancer prone syndrome mimicking constitutional mismatch repair deficiency.

Wimmer K, Beilken A, Nustede R, Ripperger T, Lamottke B, Ure B, Steinmann D, Reineke-Plaass T, Lehmann U, Zschocke J, Valle L, Fauth C, Kratz CP. Wimmer K, et al. Among authors: zschocke j. Fam Cancer. 2017 Jan;16(1):67-71. doi: 10.1007/s10689-016-9925-1. Fam Cancer. 2017. PMID: 27573199 Free PMC article.

2

Functional PMS2 hybrid alleles containing a pseudogene-specific missense variant trace back to a single ancient intrachromosomal recombination event.

Ganster C, Wernstedt A, Kehrer-Sawatzki H, Messiaen L, Schmidt K, Rahner N, Heinimann K, Fonatsch C, Zschocke J, Wimmer K. Ganster C, et al. Among authors: zschocke j. Hum Mutat. 2010 May;31(5):552-60. doi: 10.1002/humu.21223. Hum Mutat. 2010. PMID: 20186689 Free PMC article.

3

Parental origin of apparently balanced de novo complex chromosomal rearrangements investigated by microdissection, whole genome amplification, and microsatellite-mediated haplotype analysis.

Grossmann V, Höckner M, Karmous-Benailly H, Liang D, Puttinger R, Quadrelli R, Röthlisberger B, Huber A, Wu L, Spreiz A, Fauth C, Erdel M, Zschocke J, Utermann G, Kotzot D. Grossmann V, et al. Among authors: zschocke j. Clin Genet. 2010 Dec;78(6):548-53. doi: 10.1111/j.1399-0004.2010.01419.x. Clin Genet. 2010. PMID: 20584030

4

Phenotypic variability of a deletion and duplication 6q16.1 → q21 due to a paternal balanced ins(7;6)(p15;q16.1q21).

Spreiz A, Müller D, Zotter S, Albrecht U, Baumann M, Fauth C, Erdel M, Zschocke J, Utermann G, Kotzot D. Spreiz A, et al. Among authors: zschocke j. Am J Med Genet A. 2010 Nov;152A(11):2762-7. doi: 10.1002/ajmg.a.33699. Am J Med Genet A. 2010. PMID: 20954245

5

Lipoic acid synthetase deficiency causes neonatal-onset epilepsy, defective mitochondrial energy metabolism, and glycine elevation.

Mayr JA, Zimmermann FA, Fauth C, Bergheim C, Meierhofer D, Radmayr D, Zschocke J, Koch J, Sperl W. Mayr JA, et al. Among authors: zschocke j. Am J Hum Genet. 2011 Dec 9;89(6):792-7. doi: 10.1016/j.ajhg.2011.11.011. Am J Hum Genet. 2011. PMID: 22152680 Free PMC article.

6

Mutations in ROGDI Cause Kohlschütter-Tönz Syndrome.

Schossig A, Wolf NI, Fischer C, Fischer M, Stocker G, Pabinger S, Dander A, Steiner B, Tönz O, Kotzot D, Haberlandt E, Amberger A, Burwinkel B, Wimmer K, Fauth C, Grond-Ginsbach C, Koch MJ, Deichmann A, von Kalle C, Bartram CR, Kohlschütter A, Trajanoski Z, Zschocke J. Schossig A, et al. Among authors: zschocke j. Am J Hum Genet. 2012 Apr 6;90(4):701-7. doi: 10.1016/j.ajhg.2012.02.012. Epub 2012 Mar 15. Am J Hum Genet. 2012. PMID: 22424600 Free PMC article.

7

A 1.1 million base pair X-chromosomal deletion covering the PDHA1 and CDKL5 genes in a female patient with West syndrome and pyruvate oxidation deficiency.

Mayr JA, Koch J, Fauth C, Zimmermann FA, Rauscher C, Zschocke J, Sperl W. Mayr JA, et al. Among authors: zschocke j. Neuropediatrics. 2012 Jun;43(3):130-4. doi: 10.1055/s-0032-1309308. Epub 2012 Apr 2. Neuropediatrics. 2012. PMID: 22473288

8

Parental origin of de novo cytogenetically balanced reciprocal non-Robertsonian translocations.

Höckner M, Spreiz A, Frühmesser A, Tzschach A, Dufke A, Rittinger O, Kalscheuer V, Singer S, Erdel M, Fauth C, Grossmann V, Utermann G, Zschocke J, Kotzot D. Höckner M, et al. Among authors: zschocke j. Cytogenet Genome Res. 2012;136(4):242-5. doi: 10.1159/000337923. Epub 2012 Apr 18. Cytogenet Genome Res. 2012. PMID: 22516930

9

Improved multiplex ligation-dependent probe amplification analysis identifies a deleterious PMS2 allele generated by recombination with crossover between PMS2 and PMS2CL.

Wernstedt A, Valtorta E, Armelao F, Togni R, Girlando S, Baudis M, Heinimann K, Messiaen L, Staehli N, Zschocke J, Marra G, Wimmer K. Wernstedt A, et al. Among authors: zschocke j. Genes Chromosomes Cancer. 2012 Sep;51(9):819-31. doi: 10.1002/gcc.21966. Epub 2012 May 14. Genes Chromosomes Cancer. 2012. PMID: 22585707 Free PMC article.

10

Novel mutation in potassium channel related gene KCTD7 and progressive myoclonic epilepsy.

Krabichler B, Rostasy K, Baumann M, Karall D, Scholl-Bürgi S, Schwarzer C, Gautsch K, Spreiz A, Kotzot D, Zschocke J, Fauth C, Haberlandt E. Krabichler B, et al. Among authors: zschocke j. Ann Hum Genet. 2012 Jul;76(4):326-31. doi: 10.1111/j.1469-1809.2012.00710.x. Epub 2012 May 21. Ann Hum Genet. 2012. PMID: 22606975

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