High-Throughput Genomics Identify Novel FBN1/2 Variants in Severe Neonatal Marfan Syndrome and Congenital Heart Defects.

Autor: Zodanu, Gloria K. E.^1,2 (AUTHOR) gzodanu@mednet.ucla.edu, Hwang, John H.^1,2 (AUTHOR) gsatou@mednet.ucla.edu, Mehta, Zubin^1,2 (AUTHOR) nhalnon@mednet.ucla.edu, Sisniega, Carlos^1,2 (AUTHOR) csisniega@mednet.ucla.edu, Barsegian, Alexander^1,2 (AUTHOR) barsegian88@gmail.com, Kang, Xuedong^1,2 (AUTHOR) snelson@mednet.ucla.edu, Biniwale, Reshma^2,3 (AUTHOR) msi@mednet.ucla.edu, Si, Ming-Sing³ (AUTHOR), Satou, Gary M.² (AUTHOR), Halnon, Nancy² (AUTHOR), Grody, Wayne W.^2,4,5 (AUTHOR), Van Arsdell, Glen S.^2,3 (AUTHOR), Nelson, Stanley F.^2,4,5 (AUTHOR), Touma, Marlin^1,2,6,7,8,9 (AUTHOR) mtouma@mednet.ucla.edu

Publikováno v: International Journal of Molecular Sciences. May2024, Vol. 25 Issue 10, p5469. 15p.

Wide Clinical Variability in Cat Eye Syndrome Patients: Four Non-Related Patients and Three Patients from the Same Family.

Autor: Belangero, S.I., Pacanaro, A.N.X., Bellucco, F.T., Christofolini, D.M., Kulikowski, L.D., Guilherme, R.S., Bortolai, A., Dutra, A.R.N., Piazzon, F.B., Cernach, M.C., Melaragno, M.I.

Publikováno v: Cytogenetic & Genome Research; 2012, Vol. 138 Issue 1, p5-10, 6p, 2 Diagrams, 1 Chart