Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Linda Banser"'
Autor:
Christine R Beck, Claudia M B Carvalho, Linda Banser, Tomasz Gambin, Danielle Stubbolo, Bo Yuan, Karen Sperle, Suzanne M McCahan, Marco Henneke, Pavel Seeman, James Y Garbern, Grace M Hobson, James R Lupski
Publikováno v:
PLoS Genetics, Vol 11, Iss 3, p e1005050 (2015)
Inverted repeats (IRs) can facilitate structural variation as crucibles of genomic rearrangement. Complex duplication-inverted triplication-duplication (DUP-TRP/INV-DUP) rearrangements that contain breakpoint junctions within IRs have been recently a
Externí odkaz:
https://doaj.org/article/69485bbb44444f2b9c70070509172664
Autor:
Robert P. Skoff, Carlisle P. Landel, Karen Sperle, Linda Banser, Kristi Clark, Denise Bessert, Lauren Sakowski, Grace M. Hobson
Publikováno v:
Journal of Neuroscience. 33:11788-11799
Pelizaeus-Merzbacher disease (PMD) is a hypomyelinating leukodystrophy caused by mutations of the proteolipid protein 1 gene (PLP1), which is located on the X chromosome and encodes the most abundant protein of myelin in the central nervous sytem. Ap
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::81988650088b17d6599e281c93265358
https://doi.org/10.1523/jneurosci.1336-13.2013
https://doi.org/10.1523/jneurosci.1336-13.2013
Autor:
Z.A. Yuan, Alan Brook, Grace M. Hobson, Jennifer Kirkham, Linda Banser, Angelique Davis-Williams, Melissa Aragon, Carolyn W. Gibson
Publikováno v:
American Journal of Medical Genetics Part A. :1698-1705
A female patient is described with clinical symptoms of both microphthalmia with linear skin defects (MLS or MIDAS) and dental enamel defects, having an appearance compatible with X-linked amelogenesis imperfecta (XAI). Genomic DNA was purified from
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f780825138ef795d89947239cc29c1af
https://doi.org/10.1002/ajmg.a.32968
https://doi.org/10.1002/ajmg.a.32968
Autor:
Suzanne M McCahan, Pavel Seeman, Linda Banser, Marco Henneke, Karen Sperle, James Y. Garbern, Tomasz Gambin, Grace M. Hobson, Danielle Stubbolo, Christine R. Beck, Bo Yuan, James R. Lupski, Claudia M.B. Carvalho
Publikováno v:
PLoS Genetics, Vol 11, Iss 3, p e1005050 (2015)
PLoS Genetics
PLoS Genetics
Inverted repeats (IRs) can facilitate structural variation as crucibles of genomic rearrangement. Complex duplication—inverted triplication—duplication (DUP-TRP/INV-DUP) rearrangements that contain breakpoint junctions within IRs have been recent
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cf99eadb26712c966710436004f69fd1
http://resolver.sub.uni-goettingen.de/purl?gs-1/13556
http://resolver.sub.uni-goettingen.de/purl?gs-1/13556
Autor:
Barbra Charina V. Cavan, Grace M. Hobson, Jennifer R. Taube, Karen Sperle, James Y. Garbern, Linda Banser, Pavel Seeman
Publikováno v:
Human molecular genetics. 23(20)
Alternative splicing of the proteolipid protein 1 gene (PLP1) produces two forms, PLP1 and DM20, due to alternative use of 5′ splice sites with the same acceptor site in intron 3. The PLP1 form predominates in central nervous system RNA. Mutations
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::348236cd3ffc85c6cbdefccd2a9f1f27
https://pubmed.ncbi.nlm.nih.gov/24890387
https://pubmed.ncbi.nlm.nih.gov/24890387