Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Kira Dies"'
Autor:
Michael S. Breen, Xuanjia Fan, Tess Levy, Rebecca M. Pollak, Brett Collins, Aya Osman, Anna S. Tocheva, Mustafa Sahin, Elizabeth Berry-Kravis, Latha Soorya, Audrey Thurm, Craig M. Powell, Jonathan A. Bernstein, Alexander Kolevzon, Joseph D. Buxbaum, Simon K. Warfield, Benoit Scherrer, Rajna Filip-Dhima, Kira Dies, Paige Siper, Ellen Hanson, Jennifer M. Phillips
Publikováno v:
HGG Advances, Vol 4, Iss 1, Pp 100145- (2023)
Summary: Phelan-McDermid syndrome (PMS) is a rare neurodevelopmental disorder caused at least in part by haploinsufficiency of the SHANK3 gene, due to sequence variants in SHANK3 or subtelomeric 22q13.3 deletions. Phenotypic differences have been rep
Externí odkaz:
https://doaj.org/article/3468f77f03d1418b9e1044467e8fe3e3
Autor:
Elizabeth Buttermore, Stormy Chamberlain, Jannine Cody, Gregory Costain, Louis Dang, Andrew DeWoody, Yssa DeWoody, Kira Dies, Evan Eichler, Santhosh Girirajan, Marie Gramm, Alycia Halladay, Dennis Lal, Matthew Lalli, Tess Levy, Glennis Logsdon, Daniel Lowenstein, Heather Mefford, Jennifer Mulle, Alysson Muotri, Melissa Murphy, Eduardo Perez Palma, Stefan Pinter, Rebecca Pollak, Ryan Purcell, Rodney Samaco, Bina Shah, Karun Singh, Joyce So, Maria Sundberg, Surabi Veeraragavan, Vanessa Vogel-Farley, Anthony Wynshaw-Boris
Publikováno v:
Am J Hum Genet
Copy-number variants and structural variants (CNVs/SVs) drive many neurodevelopmental-related disorders. While many neurodevelopmental-related CNVs/SVs give rise to complex phenotypes, the overlap in phenotypic presentation between independent CNVs c
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0540d7d6b7ef8fac51990e15ee9abe10
https://europepmc.org/articles/PMC9388383/
https://europepmc.org/articles/PMC9388383/
Autor:
Julia Bassell, Siddharth Srivastava, Anna K. Prohl, Benoit Scherrer, Kush Kapur, Rajna Filip-Dhima, Elizabeth Berry-Kravis, Latha Soorya, Audrey Thurm, Craig M. Powell, Jonathan A. Bernstein, Joseph D. Buxbaum, Alexander Kolevzon, Simon K. Warfield, Mustafa Sahin, Joseph Buxbaum, Elizabeth Berry Kravis, Craig Powell, Simon Warfield, Kira Dies, Paige Siper, Ellen Hanson, Jennifer M. Phillips, Stormi P. White
Publikováno v:
Pediatr Neurol
Background This cohort study utilized diffusion tensor imaging tractography to compare the uncinate fasciculus and inferior longitudinal fasciculus in children with Phelan-McDermid syndrome with age-matched controls and investigated trends between au
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e9113f5a382f0b3aa8319aded81ac106
https://doi.org/10.1016/j.pediatrneurol.2020.01.006
https://doi.org/10.1016/j.pediatrneurol.2020.01.006
Autor:
Marianne Hoogeveen-Westerveld, Rosemary Ekong, Sue Povey, Izabela Karbassi, Sat Dev Batish, Johan T. den Dunnen, Agnies van Eeghen, Elizabeth Thiele, Karin Mayer, Kira Dies, Li Wen, Catherine Thompson, Steven P. Sparagana, Peter Davies, Cora Aalfs, Ans van den Ouweland, Dicky Halley, Mark Nellist
Publikováno v:
Human mutation, 33(3), 476-479. Wiley-Liss Inc.
Human Mutation, 33(3), 476-479. Wiley-Liss Inc.
Human Mutation, 33(3), 476-479
Human Mutation, 33(3), 476-479. Wiley-Liss Inc.
Human Mutation, 33(3), 476-479
Tuberous sclerosis complex (TSC) is an autosomal dominant disorder caused by mutations in the TSC1 or TSC2 genes. The TSC1 and TSC2 gene products, TSC1 and TSC2, form a complex that inhibits the mammalian target of rapamycin (mTOR) complex 1 (TORC1).
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9a3025a2f72edffa81e4eb089de47582
https://doi.org/10.1002/humu.22007
https://doi.org/10.1002/humu.22007
Autor:
Marianne Hoogeveen-Westerveld, Rosemary Ekong, Sue Povey, Karin Mayer, Nathalie Lannoy, Frances Elmslie, Martina Bebin, Kira Dies, Catherine Thompson, Steven P. Sparagana, Peter Davies, Agnies M. van Eeghen, Elizabeth A. Thiele, Ans van den Ouweland, Dicky Halley, Mark Nellist
Publikováno v:
Human Mutation. 34:409-410
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::d0e5780c5c31d0fb7779b7040009dc81
https://doi.org/10.1002/humu.22256
https://doi.org/10.1002/humu.22256