Zobrazeno 1 - 10
of 20
pro vyhledávání: '"N. Alice Yamada"'
Autor:
Martin N. Lindberg, Carol T. Schembri, Rick Haven, Amir Ben-Dor, N. Alice Yamada, Ole Feldballe Rasmussen, Varun Raghunathan, Richard K. Workman, Adrienne Sloane McCampbell, Lars Jacobsen, May Tom-Moy
Publikováno v:
Applied immunohistochemistrymolecular morphology : AIMM. 27(5)
High-quality patient samples are required for reliable immunohistochemistry test outcomes that provide a significant benefit for patient care. Among the preanalytic variables in tissue handling, tissue thickness is thought to be easily controlled; ho
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::023cb9b3313cd5c6bce7b10578ea2dad
https://pubmed.ncbi.nlm.nih.gov/29084061
https://pubmed.ncbi.nlm.nih.gov/29084061
Autor:
Marie Cécile Gaillard, Peter Tsang, Teresa Romeo Luperchio, Katja Pekrun, Robert A. Ach, James Taylor, Xianrong Wong, N. Alice Yamada, Michael E.G. Sauria, Karen L. Reddy
SummaryNon-random, dynamic three-dimensional organization of the nucleus is important for regulation of gene expression. Numerous studies using chromosome conformation capture strategies have uncovered ensemble organizational principles of individual
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fd160c5d0330ae30ce11e9685dd4a50a
Autor:
Tina Graves, Peter Tsang, Nick Sampas, Laurakay Bruhn, Mario Ventura, Rajinder Kaul, Paige Anderson, Hillary S. Hayden, Maika Malig, Anya Tsalenko, Evan E. Eichler, Jeffrey M. Kidd, Giuliana Giannuzzi, N. Alice Yamada, Joelle Kallicki, Francesca Antonacci, Richard K. Wilson, Can Alkan, Robert W Fulton
Publikováno v:
Nature methods
The extent of human genomic structural variation suggests that there must be portions of the genome yet to be discovered, annotated and characterized at the sequence level. We present a resource and analysis of 2,363 new insertion sequences correspon
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::283cd07c3b724184670b8f443965d312
http://europepmc.org/articles/PMC2875995
http://europepmc.org/articles/PMC2875995
Autor:
Colleen Elso, Stephanie N. Morrison, Hillary Thurkow, Heather L. Thompson, Xiaochen Lu, Angela Tarver, Lisa Stubbs, N. Alice Yamada
Publikováno v:
JNCI Monographs. 2008:91-95
Translocations have provided invaluable tools for identifying both cancer-linked genes and loci associated with heritable human diseases, but heritable human translocations are rare and few mouse models exist. Here we report progress on analysis of a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::22125db22eade45614ab647378a14994
https://doi.org/10.1093/jncimonographs/lgn008
https://doi.org/10.1093/jncimonographs/lgn008
Autor:
Joshua D. Smith, Kevin McKernan, Can Alkan, Michael O. Dorschner, Laurakay Bruhn, William F. Donahue, Maynard V. Olson, Eray Tüzün, Nancy F. Hansen, James C. Mullikin, Evan E. Eichler, Tera L. Newman, Lin Chen, Gregory M. Cooper, Joshua M. Korn, Steven A. McCarroll, Eric Haugen, Heather Ebling, N. Alice Yamada, John A. Stamatoyannopoulos, Richard K. Wilson, Ze Cheng, Adrianne Brand, Tina Graves, Nick Sampas, David Altshuler, Nadeem Tusneem, Maika Malig, Peter Tsang, Hillary S. Hayden, Douglas R. Smith, Robert David, Daniel A. Peiffer, Molly Weaver, Wei Tao, Erik Gustafson, Rajinder Kaul, Brian Teague, Deborah A. Nickerson, David J. Saranga, David C. Schwartz, Francesca Antonacci, Troy Zerr, Will D. Gillett, Karen A. Phelps, Jeffrey M. Kidd
Publikováno v:
Nature. 453:56-64
Genetic variation among individual humans occurs on many different scales, ranging from gross alterations in the human karyotype to single nucleotide changes. Here we explore variation on an intermediate scale--particularly insertions, deletions and
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::568fad44e21dc050cbf47352072395a0
https://doi.org/10.1038/nature06862
https://doi.org/10.1038/nature06862
Autor:
Amir Ben-Dor, Jong Il Kim, Peter Tsang, George H. Perry, Stephen Laderman, Nick Sampas, Laia Rodriguez-Revenga, Charles W. Tran, Jeong-Sun Seo, Israel Steinfeld, Han Soo Park, Anya Tsalenko, Zohar Yakhini, N. Alice Yamada, Laurakay Bruhn, Charles Lee, Alicia F. Scheffer
Publikováno v:
The American Journal of Human Genetics. 82(3):685-695
Despite considerable excitement over the potential functional significance of copy-number variants (CNVs), we still lack knowledge of the fine-scale architecture of the large majority of CNV regions in the human genome. In this study, we used a high-
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::01ab250cd75824e2f5283459febe1a28
Autor:
James B. Wilson, N. Alice Yamada, Nigel J. Jones, Cynthia B. Thomas, John M. Hinz, Irene M. Jones, Larry H. Thompson, Robert S. Tebbs, Edmund P. Salazar
Publikováno v:
DNA Repair. 4:11-22
The Fanconi anemia (FA) proteins overlap with those of homologous recombination through FANCD1/BRCA2, but the biochemical functions of other FA proteins are largely unknown. By constructing and characterizing a null fancg mutant (KO40) of hamster CHO
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::36f63f9c3a194e98362b7cff0204f82b
https://doi.org/10.1016/j.dnarep.2004.06.013
https://doi.org/10.1016/j.dnarep.2004.06.013
Autor:
Ira M. Lubin, N. Alice Yamada, Rachel M. Stansel, Rhonda G. Pace, Elizabeth M. Rohlfs, Lawrence M. Silverman
Publikováno v:
Archives of Pathology & Laboratory Medicine. 123:1177-1181
Context.—Hereditary hemochromatosis is recognized as one of the most common autosomal recessive disorders, with a prevalence of 1 in 200 to 400 in the white population. Early detection and treatment are completely effective in preventing pathology.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::286ad3bc5a60ae4905b78c85f60ed14e
https://doi.org/10.5858/1999-123-1177-hgumas
https://doi.org/10.5858/1999-123-1177-hgumas
Autor:
Florence K. Crary, Rochelle L. Coulson, Dag H. Yasui, N. Alice Yamada, Robert A. Ach, Peter Tsang, Weston T. Powell, Janine M. LaSalle, Spencer S. Wong
Publikováno v:
Human Molecular Genetics
Prader-Willi syndrome (PWS), a genetic disorder of obesity, intellectual disability and sleep abnormalities, is caused by loss of non-coding RNAs on paternal chromosome 15q11-q13. The imprinted minimal PWS locus encompasses a long non-coding RNA (lnc
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9208a2d69a60b414f5b920b4afcb2d6a
https://pubmed.ncbi.nlm.nih.gov/23771028
https://pubmed.ncbi.nlm.nih.gov/23771028
Autor:
N. Alice Yamada, Richard J. Ellis, Stephen Laderman, Zohar Yakhini, Alicia F. Scheffer, Peter Tsang, Nick Sampas, Amir Ben-Dor, Laurakay Bruhn, Philippe Froguel, Alexandra I. F. Blakemore, Adam J. de Smith, Anya Tsalenko
Publikováno v:
Human molecular genetics. 16(23)
The discovery of copy number variation in healthy individuals is far from complete, and owing to the resolution of detection systems used, the majority of loci reported so far are relatively large ( approximately 65%>10 kb). Applying a two-stage high
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8554b47fcb82461eeb20d2b68b0418b2
https://pubmed.ncbi.nlm.nih.gov/17666407
https://pubmed.ncbi.nlm.nih.gov/17666407