Dianne Abuelo
Brown University(US)
Publications by Year
Research Areas
Genomic variations and chromosomal abnormalities, Connective tissue disorders research, Prenatal Screening and Diagnostics, Chromosomal and Genetic Variations, Congenital Anomalies and Fetal Surgery
Most-Cited Works
- → Mutations in smooth muscle α-actin (ACTA2) lead to thoracic aortic aneurysms and dissections(2007)838 cited
- → Permanent Neonatal Diabetes due to Mutations in KCNJ11 Encoding Kir6.2(2004)334 cited
- → Reviewing the evidence for mycophenolate mofetil as a new teratogen: Case report and review of the literature(2009)222 cited
- → Familial Thoracic Aortic Aneurysms and Dissections(2001)219 cited
- → Recurrent Infections, Hypotonia, and Mental Retardation Caused by Duplication of MECP2 and Adjacent Region in Xq28(2006)190 cited
- Pelizaeus-Merzbacher disease: an X-linked neurologic disorder of myelin metabolism with a novel mutation in the gene encoding proteolipid protein.(1989)
- → Macrocephaly-Cutis marmorata telangiectatica congenita: A distinct disorder with developmental delay and connective tissue abnormalities