Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Elizabeth A. Donarum"'
Autor:
Phillip Stafford, D. Holmes Morton, David Craig, Javier F. Cardenas, Andrew R. Conway, Elizabeth A. Donarum, Travis Dunckley, Kara Melmed, Winnie S. Liang, Dietrich A. Stephan, Diane Hu-Lince, Kevin A. Strauss, Erik G. Puffenberger, Jennifer M. Parod, Seth E. Dobrin, C. Robert Flynn, Courtney A. Wright
Publikováno v:
Proceedings of the National Academy of Sciences. 101:11689-11694
We have identified a lethal phenotype characterized by sudden infant death (from cardiac and respiratory arrest) with dysgenesis of the testes in males [Online Mendelian Inheritance in Man (OMIM) accession no. 608800]. Twenty-one affected individuals
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0ef2487958ac84ccc2f7939d09888d54
https://doi.org/10.1073/pnas.0401194101
https://doi.org/10.1073/pnas.0401194101
Autor:
Michael A. Marino, Bhoomi Brahmbhatt, Joe M. Devaney, Lauri Toivonen, Kirsi Piippo, Kevin M. Brown, Heikki Swan, Elizabeth A. Donarum, Dietrich A. Stephan, Matti Viitasalo, Kimmo Kontula, Päivi Laitinen, Natascia Tiso
Publikováno v:
Scopus-Elsevier
Background —Familial polymorphic ventricular tachycardia is an autosomal-dominant, inherited disease with a relatively early onset and a mortality rate of ≈30% by the age of 30 years. Phenotypically, it is characterized by salvoes of bidirectiona
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5ccb3a325aa5e42183781374417c97b0
https://doi.org/10.1161/01.cir.103.4.485
https://doi.org/10.1161/01.cir.103.4.485
Publikováno v:
BMC Neuroscience. 7
Background It has been estimated that more than 50% of patients with Neurofibromatosis type 1 (NF1) have neurobehavioral impairments which include attention deficit/hyperactivity disorder, visual/spatial learning disabilities, and a myriad of other c
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::79df9e1b11e01d113a04aa73e90527fe
https://doi.org/10.1186/1471-2202-7-22
https://doi.org/10.1186/1471-2202-7-22
Autor:
Eric J. Murphy, Henry Senephansiri, Maneesh Gupta, Robert C. Switzer, K. Michael Gibson, O. Carter Snead, Phillip L. Pearl, C.A.J.M. Jakobs, Kay Larkin, Elizabeth A. Donarum, Dietrich A. Stephan
Publikováno v:
Journal of inherited metabolic disease. 29(1)
Succinic semialdehyde dehydrogenase (SSADH) deficiency, a rare genetic defect of GABA degradation recently modelled in mice (SSADH(-/-) mice), manifests early absence seizures that evolve into generalized convulsive seizures and lethal status epilept
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2dd3a21f1d9fefa0d6b5beba77f9e4c4
https://pubmed.ncbi.nlm.nih.gov/16601881
https://pubmed.ncbi.nlm.nih.gov/16601881