Isabelle Koscinski

Homozygous Mutation in SPATA16 Is Associated with Male Infertility in Human Globozoospermia

Anika H.D.M. Dam, Isabelle Koscinski, Jan A.M. Kremer et al. · The American Journal of Human Genetics · 2007 · 289 citations · Full text

Spermatogenesis, Biology, Infertility +13

DPY19L2 Deletion as a Major Cause of Globozoospermia

Isabelle Koscinski, Elias Elinati, Camille Fossard et al. · The American Journal of Human Genetics · 2011 · 207 citations · Full text

Genetic Disorder, Genetics, Pathogenesis +6

A Recurrent Deletion of DPY19L2 Causes Infertility in Man by Blocking Sperm Head Elongation and Acrosome Formation

Radu Harbuz, Raoudha Zouari, Virginie Pierre et al. · The American Journal of Human Genetics · 2011 · 195 citations · Full text

Spermatogenesis, Acrosome Formation, Infertility +14

Globozoospermia is mainly due to DPY19L2 deletion via non-allelic homologous recombination involving two recombination hotspots

Elias Elinati, Paul Kuentz, Claire Redin et al. · Human Molecular Genetics · 2012 · 112 citations

Non-allelic Homologous Recombination, Genetics, Molecular Biology +18

The Aurora Kinase C c.144delC mutation causes meiosis I arrest in men and is frequent in the North African population

Klaus Dieterich, Raoudha Zouari, Radu Harbuz et al. · Human Molecular Genetics · 2009 · 107 citations · Full text

Spermatogenesis, Fertility, Cytogenetics +24