Mariluce Riegel

Cryptic deletions are a common finding in “balanced” reciprocal and complex chromosome rearrangements: a study of 59 patients

Manuela De Gregori, Roberto Ciccone, Pamela Magini et al. · Journal of Medical Genetics · 2007 · 357 citations · Full text

Life Sciences, Genetics, Cytogenetics +16

Duplications in addition to terminal deletions are present in a proportion of ring chromosomes: clues to the mechanisms of formation

Elena Rossi, Mariluce Riegel, Jole Messa et al. · Journal of Medical Genetics · 2007 · 157 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Submicroscopic terminal deletions and duplications in retarded patients with unclassified malformation syndromes

Mariluce Riegel, Alessandra Baumer, Mauricette Jamar et al. · Human Genetics · 2001 · 129 citations

Medicine, Pediatrics, Developmental Pediatrics +14

European Cytogeneticists Association Register of Unbalanced Chromosome Aberrations (ECARUCA); an online database for rare chromosome abnormalities

Ilse Feenstra, Jiayi Fang, David A. Koolen et al. · European Journal of Medical Genetics · 2005 · 125 citations

Life Sciences, Genetics, Molecular Genetics +17

Monochorionic‐diamniotic twins discordant in gender from a naturally conceived pregnancy through postzygotic sex chromosome loss in a 47,XXY zygote

Nicolas H. Zech, Josef Wisser, Giancarlo Natalucci et al. · Prenatal Diagnosis · 2008 · 118 citations

Life Sciences, Genetics, Molecular Genetics +17