Loukas Argyriou

An exceptional complex chromosomal rearrangement (CCR) with eight breakpoints involving four chromosomes (1;3;9;14) in an azoospermic male with normal phenotype

Iris Bartels, Heike Starke, Loukas Argyriou et al. · European Journal of Medical Genetics · 2006 · 101 citations

Biology, Chromatin, Azoospermic Male +10

Expansion of mutation spectrum, determination of mutation cluster regions and predictive structural classification of SPAST mutations in hereditary spastic paraplegia

Moneef Shoukier, Jürgen Neesen, Simone M. Sauter et al. · European Journal of Human Genetics · 2008 · 89 citations · Full text

Biology, Mutation Cluster Regions, Genetic Disorder +8

Bi-allelic missense disease-causing variants in RPL3L associate neonatal dilated cardiomyopathy with muscle-specific ribosome biogenesis

Mythily Ganapathi, Loukas Argyriou, Susanne Morlot et al. · Human Genetics · 2020 · 31 citations · Full text

Mutation analysis in hereditary haemorrhagic telangiectasia in Germany reveals 11 novel <i>ENG</i> and 12 novel <i>ACVRL1/ALK1</i> mutations

L‐E Wehner, B. J. Folz, Loukas Argyriou et al. · Clinical Genetics · 2006 · 30 citations

Genetics, Genetic Epidemiology, Vascular Malformation +20

Novel mutations in the ENG and ACVRL1 genes causing hereditary hemorrhagic teleangiectasia

Loukas Argyriou, Stefan Twelkemeyer, Irakli Panchulidze et al. · International Journal of Molecular Medicine · 2006 · 18 citations · Full text

Genetics, Pathology, Molecular Genetics +16