Cristina Cuoco
Istituto Giannina Gaslini(IT)
Publications by Year
Research Areas
Genomic variations and chromosomal abnormalities, Genetics and Neurodevelopmental Disorders, Chromosomal and Genetic Variations, Prenatal Screening and Diagnostics, Genomics and Rare Diseases
Most-Cited Works
- → The 11q;22q translocation: A European collaborative analysis of 43 cases(1980)201 cited
- → Multibranched chromosomes 1, 9, and 16 in a patient with combined IgA and IgE deficiency(1979)126 cited
- → First trimester fetal karyotyping: one thousand diagnoses(1986)76 cited
- → Discordance Between Prenatal Cytogenetic Diagnosis after Chorionic Villi Sampling and Chromosomal Constitution of the Fetus(1985)65 cited
- → RORB gene and 9q21.13 microdeletion: Report on a patient with epilepsy and mild intellectual disability(2013)64 cited
- → Heterozygous deletion of CHL1 gene: Detailed array-CGH and clinical characterization of a new case and review of the literature(2014)62 cited
- → Genetic amniocentesis: 505 cases performed before the sixteenth week of gestation(1990)56 cited
- → Duplication of the short arm of chromosome 9. Analysis of five cases(1982)55 cited
- → Microarray based analysis of an inherited terminal 3p26.3 deletion, containing only the CHL1 gene, from a normal father to his two affected children(2011)54 cited
- → Mucopolysaccharidosis type II in a female patient with a reciprocal X;9 translocation and skewed X chromosome inactivation(2014)51 cited