Renata Laxova

Renata Laxova, Ph.D., (born July 15, 1931) is an American 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]

Renata Laxova
Born (1931-07-15) July 15, 1931
Brno, Czechoslovakia
Alma materUniversity of Brno
Scientific career
FieldsGenetics
InstitutionsUniversity of Wisconsin–Madison

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 Centre for Medical and Community Genetics' 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]

Publications

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, February 24, 1994, Pages 529-534, cited 80 times.
gollark: Please just actually ask things.
gollark: Well, in a very real sense, Java bad, and also programming at a high level is pretty hard and loosely-defined.
gollark: Greetings, human.
gollark: https://wiki.vg/Protocol_Encryption
gollark: According to the unofficial documentation I can find, it is *meant* to be encrypted in online mode.

References
  1. "Person details: Directory: : University of Wisconsin–Madison". Wisc.edu. Retrieved July 10, 2015.
  2. [Neu RL, Kajii T, Gardner LI, et al.: A lethal syndrome of microcephaly with multiple congenital anomalies in three siblings. Pediatrics 1971, 47:610-612] PMID 5547878
  3. "BMC Pregnancy and Childbirth | Abstract | Prenatal diagnosis of Neu-Laxova syndrome: a case report". Biomedcentral.com. Retrieved July 10, 2015.
  4. "Genetika isoamylas : Studie nového lidského polymorfismu (Book, 1967)". [WorldCat.org]. February 22, 1999. Retrieved July 10, 2015.
  5. Archived October 6, 2008, at the Wayback Machine
  6. "Oral History Program interview with Renata Lexova, 2004". Worldcat.org. Retrieved October 28, 2014.
  7. "[Oral history program interview with Renata Laxova, 2008] (Audiobook on CD, 2008)". [WorldCat.org]. February 22, 1999. Retrieved July 10, 2015.
This article is issued from Wikipedia. The text is licensed under Creative Commons - Attribution - Sharealike. Additional terms may apply for the media files.