Kotzot D - Search Results

1

Disruption of EXOC6B in a patient with developmental delay, epilepsy, and a de novo balanced t(2;8) translocation.

Frühmesser A, Blake J, Haberlandt E, Baying B, Raeder B, Runz H, Spreiz A, Fauth C, Benes V, Utermann G, Zschocke J, Kotzot D. Frühmesser A, et al. Among authors: kotzot d. Eur J Hum Genet. 2013 Oct;21(10):1177-80. doi: 10.1038/ejhg.2013.18. Epub 2013 Feb 20. Eur J Hum Genet. 2013. PMID: 23422942 Free PMC article.

2

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: kotzot d. 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

3

Effects of deletion and duplication in a patient with a 46,XX,der(7)t(7;17)(q36;p13)mat karyotype.

Frühmesser A, Haberlandt E, Judmaier W, Schinzel A, Utermann B, Erdel M, Fauth C, Utermann G, Zschocke J, Kotzot D. Frühmesser A, et al. Among authors: kotzot d. Am J Med Genet A. 2012 Sep;158A(9):2239-44. doi: 10.1002/ajmg.a.35450. Epub 2012 Jul 20. Am J Med Genet A. 2012. PMID: 22821890

4

Combined Dup(7)(q22.1q32.2), Inv(7)(q31.31q31.33), and Ins(7;19)(q22.1;p13.2p13.2) in a 12-year-old boy with developmental delay and various dysmorphism.

Frühmesser A, Erdel M, Duba HC, Fauth C, Amberger A, Utermann G, Zschocke J, Kotzot D. Frühmesser A, et al. Among authors: kotzot d. Eur J Med Genet. 2013 Jul;56(7):383-8. doi: 10.1016/j.ejmg.2013.04.003. Epub 2013 Apr 19. Eur J Med Genet. 2013. PMID: 23608969

5

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: kotzot d. Clin Genet. 2010 Dec;78(6):548-53. doi: 10.1111/j.1399-0004.2010.01419.x. Clin Genet. 2010. PMID: 20584030

6

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: kotzot d. Cytogenet Genome Res. 2012;136(4):242-5. doi: 10.1159/000337923. Epub 2012 Apr 18. Cytogenet Genome Res. 2012. PMID: 22516930

7

Chromosomal microaberrations in patients with epilepsy, intellectual disability, and congenital anomalies.

Spreiz A, Haberlandt E, Baumann M, Baumgartner Sigl S, Fauth C, Gautsch K, Karall D, Janetschek C, Rostasy K, Scholl-Bürgi S, Zotter S, Utermann G, Zschocke J, Kotzot D. Spreiz A, et al. Among authors: kotzot d. Clin Genet. 2014 Oct;86(4):361-6. doi: 10.1111/cge.12288. Epub 2013 Oct 28. Clin Genet. 2014. PMID: 24116836

8

Del(18)(q12.2q21.1) caused by a paternal sister chromatid rearrangement in a developmentally delayed girl.

Kotzot D, Haberlandt E, Fauth C, Baumgartner S, Scholl-Bürgi S, Utermann G. Kotzot D, et al. Am J Med Genet A. 2005 Jun 15;135(3):304-7. doi: 10.1002/ajmg.a.30727. Am J Med Genet A. 2005. PMID: 15887269 Review.

9

Uniparental disomy (UPD) other than 15: phenotypes and bibliography updated.

Kotzot D, Utermann G. Kotzot D, et al. Am J Med Genet A. 2005 Jul 30;136(3):287-305. doi: 10.1002/ajmg.a.30483. Am J Med Genet A. 2005. PMID: 15957160

10

Yellow teeth, seizures, and mental retardation: a less severe case of Kohlschütter-Tönz syndrome.

Haberlandt E, Svejda C, Felber S, Baumgartner S, Günther B, Utermann G, Kotzot D. Haberlandt E, et al. Among authors: kotzot d. Am J Med Genet A. 2006 Feb 1;140(3):281-3. doi: 10.1002/ajmg.a.31071. Am J Med Genet A. 2006. PMID: 16411202

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