Ludmila Kousoulidou

Identification of high frequency of Y chromosome deletions in patients with sex chromosome mosaicism and correlation with the clinical phenotype and Y‐chromosome instability

Philippos C. Patsalis, Nicos Skordis, Carolina Sismani et al. · American Journal of Medical Genetics Part A · 2005 · 86 citations · Full text

263.4 kb deletion within the TCF4 gene consistent with Pitt–Hopkins syndrome, inherited from a mosaic parent with normal phenotype

Ludmila Kousoulidou, George A. Tanteles, Maria Moutafi et al. · European Journal of Medical Genetics · 2013 · 54 citations

Tcf4 Gene, Kb Deletion, Mendelian Disorder +9

9 Mb familial duplication in chromosome band Xp22.2–22.13 associated with mental retardation, hypotonia and developmental delay, scoliosis, cardiovascular problems and mild dysmorphic facial features

Carolina Sismani, Violetta Anastasiadou, Ludmila Kousoulidou et al. · European Journal of Medical Genetics · 2011 · 52 citations

Down Syndrome, Chromatin, Developmental Biology +12

Detection of small genomic imbalances using microarray-based multiplex amplifiable probe hybridization

Philippos C. Patsalis, Ludmila Kousoulidou, Katrin Männik et al. · European Journal of Human Genetics · 2006 · 15 citations

Small Genomic Imbalances, Genetics, High Throughput Sequencing +6

Novel pericentric inversion inv(9)(p23q22.3) in unrelated individuals with fertility problems in the Southeast European population

Carolina Sismani, Stamatia-Maria Rapti, Pavlina Iliopoulou et al. · Journal of Human Genetics · 2020 · 15 citations

Infertility, Unrelated Individuals, Fertility +9