Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Sara O. Mason"'
Autor:
Sara O. Mason, Colleen A. Campbell, Diana L. Kolbe, Charuta Joshi, Richard J.H. Smith, M. Adela Mansilla
Publikováno v:
Brain and Development. 38:848-851
We describe the presentation and workup of two brothers with early-onset epileptic encephalopathy who became seizure-free on a ketogenic diet. Extensive testing culminated in whole exome sequencing, which led to the diagnosis of phosphatidyl inositol
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8cd1460f8a9ec1eabbda69f36165c20b
https://doi.org/10.1016/j.braindev.2016.04.004
https://doi.org/10.1016/j.braindev.2016.04.004
Autor:
M. Adela Mansilla, Sara O. Mason, Colleen A. Campbell, Charuta Joshi, Diana L. Kolbe, Richard J.H. Smith
Publikováno v:
BioMed Research International, Vol 2016 (2016)
BioMed Research International
BioMed Research International
Whole exome sequencing (WES) has revolutionized the way we think about and diagnose epileptic encephalopathies. Multiple recent review articles discuss the benefits of WES and suggest various algorithms to follow for determining the etiology of epile
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8c8a1c91fc3a9079214a178ac7af0483
https://doi.org/10.1155/2016/6421039
https://doi.org/10.1155/2016/6421039
Autor:
Anne E. Kwitek, Colleen A. Campbell, Maria A. Mansilla, Christie P. Thomas, Sara O. Mason, M. J. Kimble, Richard J.H. Smith, Carla Nishimura, Benjamin W. Darbro, Zoe A. Stewart, Ramakrishna Sompallae
Publikováno v:
American Journal of Transplantation
Related living kidney donors (LKDs) are at higher risk of end‐stage renal disease (ESRD) compared with unrelated LKDs. A genetic panel was developed to screen 115 genes associated with renal diseases. We used this panel to screen six negative contr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e96fecdde79bae61cfee7bc710808f07
https://pubmed.ncbi.nlm.nih.gov/27434427
https://pubmed.ncbi.nlm.nih.gov/27434427
Publikováno v:
Advances in Alzheimer's Disease. :87-92
GAPDH is a conserved enzyme that binds diverse proteins, such as Siah during apoptotic nuclear translocation. There is one somatic GAPDH gene, but over 60 pseudogenes, the expression of which is nebulous. A single nucleotide polymorphism (SNP) in the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c5c95e1059b3d7013061c6e1e6db039e
https://doi.org/10.4236/aad.2012.13011
https://doi.org/10.4236/aad.2012.13011