Hanneke Mieloo

Parental insertional balanced translocations are an important cause of apparently de novo CNVs in patients with developmental anomalies

Beata Nowakowska, Nicole de Leeuw, Claudia AL Ruivenkamp et al. · European Journal of Human Genetics · 2011 · 115 citations · Full text

Down Syndrome, Developmental Anomaly, Developmental Biology +8

Buccal cell FISH and blood PCR-Y detect high rates of X chromosomal mosaicism and Y chromosomal derivatives in patients with Turner syndrome

Kim Freriks, Henri Timmers, Romana T. Netea‐Maier et al. · European Journal of Medical Genetics · 2013 · 54 citations

Chromatin, Cytogenetics, Genetic Disorder +11

Identification of an unbalanced cryptic translocation between the chromosomes 8 and 13 in two sisters with mild mental retardation accompanied by mild dysmorphic features

Tjitske Kleefstra, Guillaume van de Zande, Gerard Merkx et al. · European Journal of Human Genetics · 2000 · 13 citations · Full text

Down Syndrome, Developmental Anomaly, Unbalanced Cryptic Translocation +10

Dysmorphology and mental retardation: molecular cytogenetic studies in dysmorphic mentally retarded patients

G.J.C.M. van Buggenhout, Conny M.A. van Ravenswaaij‐Arts, Hanneke Mieloo et al. · Annales de Génétique · 2001 · 11 citations

Down Syndrome, Mendelian Disorder, Psychiatry +9