Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Julia V Hegert"'
Autor:
Paras A Patel, Julia V Hegert, Ingrid Cristian, Alicia Kerr, Leslie E W LaConte, Michael A Fox, Sarika Srivastava, Konark Mukherjee
Publikováno v:
J Med Genet
BackgroundHeterozygous loss of X-linked genes likeCASKand MeCP2 (Rett syndrome) causes developmental delay in girls, while in boys, loss of the only allele of these genes leads to epileptic encephalopathy. The mechanism for these disorders remains un
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7445df96aca583a2ed534588af7484b3
https://europepmc.org/articles/PMC9365889/
https://europepmc.org/articles/PMC9365889/
Publikováno v:
Journal of Investigative Medicine High Impact Case Reports, Vol 7 (2019)
Journal of Investigative Medicine High Impact Case Reports
Journal of Investigative Medicine High Impact Case Reports
A 72-year-old male smoker was brought into the emergency department complaining of 4 months of progressive dyspnea and fatigue. Computed tomography angiogram of the lungs was negative for pulmonary embolism; however, a 10 cm right upper lobe mass and
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::69951e22c816ccca0a78b30dd9c8eff3
https://doaj.org/article/9c1b8e38d0b1415bbefa1fc10c4e7dce
https://doaj.org/article/9c1b8e38d0b1415bbefa1fc10c4e7dce
Autor:
Sanja Pajovic, Sameer Agnihotri, David Zagzag, Louis Letourneau, Julia V Hegert, Juliette Hukin, Cynthia Hawkins, King Ching Ho, Mathieu Bourgey, Chris Jones, Annie Huang, Jason E. Cain, Anne Bendel, Yevgen Chornenkyy, Joshua Mangerel, Pedro Castelo-Branco, Andrew Morrison, Mark M. Souweidane, Jean Michaud, Amy Smith, Eric Bouffet, C. David Allis, Matthias A. Karajannis, Lucy Lafay-Cousin, Alexandre Montpetit, David A. Ramsay, Shayna Zelcer, Mark Barszczyk, Cameron Brennan, Chris Dunham, Alan Mackay, Guillaume Bourque, Javad Nazarian, Peter W. Lewis, Ute Bartels, Oren J. Becher, Misko Dzamba, Katrin Scheinemann, Kathryn R. Taylor, Scott Ryall, Jennifer Zuccaro, Nicholas K. Foreman, Pawel Buczkowicz, Michael Brudno, Christine M. Hoeman, Patricia Rakopoulos, Uri Tabori, Jennifer A. Chan, Sandra E. Dunn, Andrew M. Donson, Jason Fangusaro, Francisco Cordero
Publikováno v:
Nature Genetics. 46:451-456
Diffuse intrinsic pontine glioma (DIPG) is a fatal brain cancer that arises in the brainstem of children, with no effective treatment and near 100% fatality. The failure of most therapies can be attributed to the delicate location of these tumors and
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::06d8a59eb0cc0bbe9564eba9dcd77168
https://doi.org/10.1038/ng.2936
https://doi.org/10.1038/ng.2936