Affiliation: University of Bonn
Pezeshkpoor B, Pavlova A, Oldenburg J, El Maarri O. F8 genetic analysis strategies when standard approaches fail. Hamostaseologie. 2014;34:167-73 pubmed publisher
..In this review, we present the experiences with molecular diagnosis of such cases and approaches to be applied for mutation negative patients. ..
El Maarri O, Becker T, Junen J, Manzoor S, Diaz Lacava A, Schwaab R, et al
. Gender specific differences in levels of DNA methylation at selected loci from human total blood: a tendency toward higher methylation levels in males. Hum Genet. 2007;122:505-14 pubmed
..This observed difference could be due to the process of X chromosome inactivation or merely to the presence of an additional X chromosome in female cells or could be a result of downstream effects of sex determination. ..
El Maarri O, Walier M, Behne F, van Üüm J, Singer H, Diaz Lacava A, et al
. Methylation at global LINE-1 repeats in human blood are affected by gender but not by age or natural hormone cycles. PLoS ONE. 2011;6:e16252 pubmed publisher
..In conclusion, neither natural cycle of hormones nor age has a detectable effect on the LINE-1 methylation in peripheral blood cells, while gender remains an important factor. ..
El Maarri O, Singer H, Klein C, Watzka M, Herbiniaux U, Brackmann H, et al
. Lack of F8 mRNA: a novel mechanism leading to hemophilia A. Blood. 2006;107:2759-65 pubmed
..These findings strongly suggest that the cause of HA in this patient is either absence or rapid degradation of the F8 mRNA, which points to a novel mechanism leading to HA. ..
El Maarri O, Kareta M, Mikeska T, Becker T, Diaz Lacava A, Junen J, et al
. A systematic search for DNA methyltransferase polymorphisms reveals a rare DNMT3L variant associated with subtelomeric hypomethylation. Hum Mol Genet. 2009;18:1755-68 pubmed publisher