Haberlandt E - Search Results

1

ASPP2 deficiency causes features of 1q41q42 microdeletion syndrome.

Zak J, Vives V, Szumska D, Vernet A, Schneider JE, Miller P, Slee EA, Joss S, Lacassie Y, Chen E, Escobar LF, Tucker M, Aylsworth AS, Dubbs HA, Collins AT, Andrieux J, Dieux-Coeslier A, Haberlandt E, Kotzot D, Scott DA, Parker MJ, Zakaria Z, Choy YS, Wieczorek D, Innes AM, Jun KR, Zinner S, Prin F, Lygate CA, Pretorius P, Rosenfeld JA, Mohun TJ, Lu X. Zak J, et al. Among authors: haberlandt e. Cell Death Differ. 2016 Dec;23(12):1973-1984. doi: 10.1038/cdd.2016.76. Epub 2016 Jul 22. Cell Death Differ. 2016. PMID: 27447114 Free PMC article.

2

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.

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: 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

4

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

5

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

6

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

7

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.

8

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

9

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.

10

The mitochondrial solute carrier SLC25A5 at Xq24 is a novel candidate gene for non-syndromic intellectual disability.

Vandewalle J, Bauters M, Van Esch H, Belet S, Verbeeck J, Fieremans N, Holvoet M, Vento J, Spreiz A, Kotzot D, Haberlandt E, Rosenfeld J, Andrieux J, Delobel B, Dehouck MB, Devriendt K, Fryns JP, Marynen P, Goldstein A, Froyen G. Vandewalle J, et al. Among authors: haberlandt e. Hum Genet. 2013 Oct;132(10):1177-85. doi: 10.1007/s00439-013-1322-3. Epub 2013 Jun 20. Hum Genet. 2013. PMID: 23783460

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