Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Danielle Stubbolo"'
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:
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:
Christopher A. Chapleau, Jane B. Lane, Kathleen J. Motil, Carolyn Schanen, Jeffrey L. Neul, Patrick MacLeod, Kathy M. B. Vinette, Steven A. Skinner, Alan K. Percy, Walter E. Kaufmann, Susan M. Kirwin, Danielle Stubbolo, Daniel G. Glaze
Publikováno v:
American Journal of Medical Genetics Part A, vol 164, iss 5
Author(s): Chapleau, Christopher A; Lane, Jane; Kirwin, Susan; Schanen, Carolyn; Vinette, Kathy MB; Stubbolo, Danielle; MacLeod, Patrick; Glaze, Daniel G; Motil, Kathleen J; Neul, Jeffrey L; Skinner, Steven A; Kaufmann, Walter E; Percy, Alan K
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b4342c1fce41f72c9bebd7d498d963b2
https://escholarship.org/uc/item/0353f9xc
https://escholarship.org/uc/item/0353f9xc
Autor:
Christopher A, Chapleau, Jane, Lane, Susan M, Kirwin, Carolyn, Schanen, Kathy M B, Vinette, Danielle, Stubbolo, Patrick, MacLeod, Daniel G, Glaze, Kathleen J, Motil, Jeffrey L, Neul, Steven A, Skinner, Walter E, Kaufmann, Alan K, Percy
Publikováno v:
American journal of medical genetics. Part A. (7)
The objective of our study was to characterize the influence of multiple mutations in the MECP2 gene in a cohort of individuals with Rett syndrome. Further analysis demonstrated that nearly all resulted from de novo in cis mutations, where the diseas
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e328207df07e47f2ec49b624bd227d57
https://pubmed.ncbi.nlm.nih.gov/23696494
https://pubmed.ncbi.nlm.nih.gov/23696494
Autor:
Inge A. Meijer, Armin Grau, Oren S. Cohen, Jean-Pierre Bouchard, Sabina Capellari, Guy A. Rouleau, Madhavi K. Ganapathiraju, Eleonore Eymard Pierre, Thomas Klopstock, Diego Santana Chaves Geraldo Miguel, Rastislav Pjontek, Odile Boespflug-Tanguy, Giovanna Vaula, Laura E. Kropp, Pierre Labauge, Camilo Toro, Niklas Dahl, Lourenco Charles Marques, Grace M. Hobson, Brent L. Fogel, Anish Chakka, Adeline Vanderver, William A. Gahl, Harshvardhan Rolyan, Pietro Cortelli, Danielle Stubbolo, Alfredo Brusco, Elisa Giorgio, Quasar S Padiath, Atle Melberg, Eleonora Di Gregorio, Filippo Vairo, Daniela Lacerenza, Paola Mandich, F. Talarico, Sharon Hassin-Baer, Svetlana A. Yatsenko, Alessandro Brussino
Publikováno v:
Human Mutation. 35:149-149
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::ec9bc0007a0b1b2d831c4cd513d69a49
https://doi.org/10.1002/humu.22466
https://doi.org/10.1002/humu.22466