Renata Laxova

From Wikipedia, the free encyclopedia
Jump to: navigation, search

Renata Laxova, Ph.D., a pediatric geneticist, is Emeritus Professor of Genetics at the Departments of Pediatrics and Medical Genetics, Waisman Center, University of Wisconsin–Madison.[1] She is the discoverer of the Neu-Laxová syndrome, a rare congenital abnormality involving multiple organs, with autosomal recessive inheritance.[2][3]

She was born and educated in Brno, Czechoslovakia, and survived the Holocaust by inclusion in the Kindertransport, and spent the war years in England. She returned to Czechoslovakia after the war, received a medical degree and training as a pediatrician there. Her Doctoral thesis from the University of Brno was Genetika isoamylas: Studie nového lidského polymorfismu. (in English: "Genetics of Isoamylases: Study of the New Human Polymorphism") in 1967.[4] After the invasion of Czechoslovakia in August 1968, she escaped a second time to England, where she worked with Lionel Penrose at the Kennedy-Galton Center in London on mental retardation. She was then appointed to the faculty at the University of Wisconsin-Madison, where she worked in its research center for human developmental disabilities, the Waisman Center[5] on prenatal diagnosis and genetics counseling.[6][7]

Laxova is the author of 64 peer-reviewed papers, as shown in Scopus. Her most cited are:

  • "Diagnostic criteria for Walker-Warburg syndrome" by Dobyns, W.B., Pagon, R.A., Armstrong, D., Curry, C.J.R., Greenberg, F., Grix, A., Holmes, L.B., Laxova, R., Michels, V.V., Robinow, M., Zimmerman, R.L. American Journal of Medical Genetics Volume 32, Issue 2, 1989, Pages 195-210. Cited 207 times
  • "The critical region of the human Xq" by Therman, E., Laxova, R., Susman, B. Human Genetics Volume 85, Issue 5, 1990, Pages 455-461 cited 85 times
  • "Mutations of the P gene in oculocutaneous albinism, ocular albinism, and Prader-Willi syndrome plus albinism" by Lee, S.-T., Nicholls, R.D., Bundey, S., Laxova, R., Musarella, M., Spritz, R.A. New England Journal of Medicine Volume 330, Issue 8, 24 February 1994, Pages 529-534, cited 80 times.

References[edit]

External links[edit]