El-Maarri O - Search Results

1

Targeted Resequencing of 29 Candidate Genes and Mouse Expression Studies Implicate ZIC3 and FOXF1 in Human VATER/VACTERL Association.

Hilger AC, Halbritter J, Pennimpede T, van der Ven A, Sarma G, Braun DA, Porath JD, Kohl S, Hwang DY, Dworschak GC, Hermann BG, Pavlova A, El-Maarri O, Nöthen MM, Ludwig M, Reutter H, Hildebrandt F. Hilger AC, et al. Hum Mutat. 2015 Dec;36(12):1150-4. doi: 10.1002/humu.22859. Epub 2015 Sep 14. Hum Mutat. 2015. PMID: 26294094 Free PMC article.

2

Heterozygous large deletions of Factor 8 gene in females identified by multiplex PCR-LC.

Pavlova A, Förster T, Delev D, Schröder J, El-Maarri O, Müller-Reible C, Oldenburg J. Pavlova A, et al. Haemophilia. 2008 May;14(3):599-606. doi: 10.1111/j.1365-2516.2007.01629.x. Epub 2008 Jan 22. Haemophilia. 2008. PMID: 18218012 Free article.

3

Epigenetic alteration of the dopamine transporter gene in alcohol-dependent patients is associated with age.

Nieratschker V, Grosshans M, Frank J, Strohmaier J, von der Goltz C, El-Maarri O, Witt SH, Cichon S, Nöthen MM, Kiefer F, Rietschel M. Nieratschker V, et al. Addict Biol. 2014 Mar;19(2):305-11. doi: 10.1111/j.1369-1600.2012.00459.x. Epub 2012 Apr 16. Addict Biol. 2014. PMID: 22506971

4

F8 genetic analysis strategies when standard approaches fail.

Pezeshkpoor B, Pavlova A, Oldenburg J, El-Maarri O. Pezeshkpoor B, et al. Hamostaseologie. 2014;34(2):167-73. doi: 10.5482/HAMO-13-08-0043. Epub 2013 Dec 3. Hamostaseologie. 2014. PMID: 24296544 Review.

5

DNA methylation signature in peripheral blood reveals distinct characteristics of human X chromosome numerical aberrations.

Sharma A, Jamil MA, Nuesgen N, Schreiner F, Priebe L, Hoffmann P, Herns S, Nöthen MM, Fröhlich H, Oldenburg J, Woelfle J, El-Maarri O. Sharma A, et al. Clin Epigenetics. 2015 Jul 28;7(1):76. doi: 10.1186/s13148-015-0112-2. eCollection 2015. Clin Epigenetics. 2015. PMID: 26221191 Free PMC article.

6

Skewed X-chromosome inactivation and XIST locus methylation levels do not contribute to the lower prevalence of Parkinson's disease in females.

Sharma A, Kaut O, Pavlova A, Fröhlich H, Ahmad A, Schmitt I, El-Maarri O, Oldenburg J, Wüllner U. Sharma A, et al. Among authors: el maarri o. Neurobiol Aging. 2017 Sep;57:248.e1-248.e5. doi: 10.1016/j.neurobiolaging.2017.05.021. Epub 2017 Jun 6. Neurobiol Aging. 2017. PMID: 28663000

7

Detection of heterozygous large deletions in the antithrombin gene using multiplex polymerase chain reaction and denatured high performance liquid chromatography.

Pavlova A, El-Maarri O, Luxembourg B, Lindhoff-Last E, Kochhan L, Bruhn HD, Delev D, Watzka M, Seifried E, Oldenburg J. Pavlova A, et al. Haematologica. 2006 Sep;91(9):1264-7. Haematologica. 2006. PMID: 16956830

8

Evidence of pathogenicity of a mutation in 3' untranslated region causing mild haemophilia A.

Pezeshkpoor B, Berkemeier AC, Czogalla KJ, Oldenburg J, El-Maarri O. Pezeshkpoor B, et al. Among authors: el maarri o. Haemophilia. 2016 Jul;22(4):598-603. doi: 10.1111/hae.12923. Epub 2016 May 24. Haemophilia. 2016. PMID: 27216882

9

Maternal alleles acquiring paternal methylation patterns in biparental complete hydatidiform moles.

El-Maarri O, Seoud M, Coullin P, Herbiniaux U, Oldenburg J, Rouleau G, Slim R. El-Maarri O, et al. Hum Mol Genet. 2003 Jun 15;12(12):1405-13. doi: 10.1093/hmg/ddg152. Hum Mol Genet. 2003. PMID: 12783848

10

Patients with familial biparental hydatidiform moles have normal methylation at imprinted genes.

El-Maarri O, Seoud M, Rivière JB, Oldenburg J, Walter J, Rouleau G, Slim R. El-Maarri O, et al. Eur J Hum Genet. 2005 Apr;13(4):486-90. doi: 10.1038/sj.ejhg.5201353. Eur J Hum Genet. 2005. PMID: 15657620

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