Elke Back
University of Miami(US)
Publications by Year
Research Areas
Genomic variations and chromosomal abnormalities, Chromosomal and Genetic Variations, Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities, Prenatal Screening and Diagnostics, Genomics and Chromatin Dynamics
Most-Cited Works
- → Campomelic Dysplasia Translocation Breakpoints Are Scattered over 1 Mb Proximal to SOX9: Evidence for an Extended Control Region(1999)212 cited
- → Deletion mapping on chromosome 10p and definition of a critical region for the second DiGeorge syndrome locus (DGS2)(1998)89 cited
- → Familial pericentric inversion of chromosome 12(1986)84 cited
- Quantitative studies on the arrangement of human metaphase chromosomes. I. Individual features in the association pattern of the acrocentric chromosomes of normal males and females.(1968)
- → Quantitative studies on the arrangement of human metaphase chromosomes(1968)72 cited
- → Segregation of a complex rearrangement of chromosomes 6, 7, 8, and 12 through three generations(1981)44 cited
- → Absence of Y-specific DNA sequences in human 46,XX true hermaphrodites and in 45,X mixed gonadal dysgenesis(1987)43 cited
- → Familial ring (20) chromosomal mosaicism(1989)41 cited
- → Mutations in RIT1 cause Noonan syndrome – additional functional evidence and expanding the clinical phenotype(2015)40 cited