Roberto Quadrelli
Publications by Year
Research Areas
Genomic variations and chromosomal abnormalities, Prenatal Screening and Diagnostics, Chromosomal and Genetic Variations, Genetic factors in colorectal cancer, Metabolism and Genetic Disorders
Most-Cited Works
- → Different TBX5 interactions in heart and limb defined by Holt–Oram syndrome mutations(1999)365 cited
- → Gain-of-function mutations in TRPV4 cause autosomal dominant brachyolmia(2008)231 cited
- → Thalidomide, a current teratogen in South America(1996)104 cited
- → Parental origin of apparently balanced de novo complex chromosomal rearrangements investigated by microdissection, whole genome amplification, and microsatellite‐mediated haplotype analysis(2010)82 cited
- → Parental decisions to abort or continue a pregnancy following prenatal diagnosis of chromosomal abnormalities in a setting where termination of pregnancy is not legally available(2006)44 cited
- [Familial colonic cancer].(1978)
- → Nine novel mutations inNR0B1 (DAX1) causing adrenal hypoplasia congenita(2001)18 cited
- → Awareness and attitude toward prenatal diagnosis of chromosomal abnormalities in patients with no access to legal termination of pregnancy(2006)16 cited
- → Van der Woude syndrome. A case report.(1998)16 cited
- → A Girl with del(4)(q33) And Occipital Encephalocele: Clinical Description And Molecular Genetic Characterization of A Rare Patient(2007)14 cited