Haberlandt E - Search Results

1

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: haberlandt e. 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.

2

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. 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

3

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: haberlandt e. 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

4

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: haberlandt e. 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

5

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: haberlandt e. 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.

6

Microdeletion 19p13.2 in an almost 5-year-old boy.

Haberlandt E, Spreiz A, Sigl SB, Janetschek C, Röthlisberger B, Zotter S, Rostasy K, Zschocke J, Kotzot D. Haberlandt E, et al. Am J Med Genet A. 2012 May;158A(5):1190-4. doi: 10.1002/ajmg.a.35291. Epub 2012 Apr 9. Am J Med Genet A. 2012. PMID: 22488779

7

Interpretation of molecular results in segmental uniparental disomy.

Haberlandt E, Kotzot D. Haberlandt E, et al. Hepatol Res. 2012 Nov;42(11):1150-3. doi: 10.1111/j.1872-034X.2012.01041.x. Hepatol Res. 2012. PMID: 23094856 No abstract available.

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. Among authors: haberlandt e. 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

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: haberlandt e. Clin Genet. 2014 Oct;86(4):361-6. doi: 10.1111/cge.12288. Epub 2013 Oct 28. Clin Genet. 2014. PMID: 24116836

10

Don't miss patients with atypical FMR1 mutations: dysmorphism and clinical features in a boy with a partially methylated FMR1 full mutation.

Haberlandt E, Zotter S, Witsch-Baumgartner M, Zschocke J, Kotzot D. Haberlandt E, et al. Eur J Pediatr. 2014 Sep;173(9):1257-61. doi: 10.1007/s00431-014-2375-6. Epub 2014 Jul 17. Eur J Pediatr. 2014. PMID: 25027833

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