Zobrazeno 1 - 10
of 17
pro vyhledávání: '"Ellen K. Brundage"'
Autor:
Bekim Sadikovic, Jing Wang, Ayman W El-Hattab, Megan Landsverk, Ganka Douglas, Ellen K Brundage, William J Craigen, Eric S Schmitt, Lee-Jun C Wong
Publikováno v:
PLoS ONE, Vol 12, Iss 11, p e0188610 (2017)
[This corrects the article DOI: 10.1371/journal.pone.0015687.].
Externí odkaz:
https://doaj.org/article/d99ac69edea54cfc98d93b84d9ecf385
Autor:
Bekim Sadikovic, Jing Wang, Ayman W El-Hattab, Megan Landsverk, Ganka Douglas, Ellen K Brundage, William J Craigen, Eric S Schmitt, Lee-Jun C Wong
Publikováno v:
PLoS ONE, Vol 5, Iss 12, p e15687 (2010)
Mitochondrial DNA (mtDNA) deletions are a common cause of mitochondrial disorders. Large mtDNA deletions can lead to a broad spectrum of clinical features with different age of onset, ranging from mild mitochondrial myopathies (MM), progressive exter
Externí odkaz:
https://doaj.org/article/bd4b798f7b2e475b838cc488f05ed56f
Autor:
Megan Landsverk, Ayman W. El-Hattab, William J. Craigen, Eric S. Schmitt, Ganka Douglas, Jing Wang, Bekim Sadikovic, Ellen K. Brundage, Lee-Jun C. Wong
Publikováno v:
PLoS ONE, Vol 12, Iss 11, p e0188610 (2017)
PLoS ONE
PLoS ONE
Mitochondrial DNA (mtDNA) deletions are a common cause of mitochondrial disorders. Large mtDNA deletions can lead to a broad spectrum of clinical features with different age of onset, ranging from mild mitochondrial myopathies (MM), progressive exter
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::249a264ca362f35c1957547ec303bec2
http://europepmc.org/articles/PMC5695760?pdf=render
http://europepmc.org/articles/PMC5695760?pdf=render
Autor:
Lee-Jun C. Wong, Peter Procopis, Taro Yamazaki, Christopher Troedson, David R. Thorburn, Alison G. Compton, Fang-Yuan Li, Ellen K. Brundage, Meredith Wilson
Publikováno v:
Mitochondrion. 11:104-107
Mutations in the polymerase γ (POLG) gene are among the most common causes of mitochondrial disease and more than 160 POLG mutations have been reported. However, a large proportion of patients suspected of having POLG mutations only have one (hetero
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::daddd1efbab834d59134e67cf51842d8
https://doi.org/10.1016/j.mito.2010.07.012
https://doi.org/10.1016/j.mito.2010.07.012
Autor:
Ellen K. Brundage, Pawel Stankiewicz, Jolanta Wierzba, Davut Pehlivan, James R. Lupski, Janusz Limon, Zhilian Xia, Sau Wai Cheung, Magdalena Ratajska
Publikováno v:
European Journal of Medical Genetics. 53:378-382
Cornelia de Lange syndrome (CdLS) is a rare multisystem congenital anomaly disorder characterized by growth and developmental delay, distinctive facial dysmorphism, limb malformations and multiple organ defects. Approximately 60–65% of the CdLS sub
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b90351dd414d5704939a584ca9e780e5
https://doi.org/10.1016/j.ejmg.2010.08.002
https://doi.org/10.1016/j.ejmg.2010.08.002
Autor:
Lee-Jun C. Wong, Li Chieh Chen, Fangyuan Li, Amber N. Pursley, Hongli Zhan, Johannes Häberle, Ellen K. Brundage, Jing Wang, Oleg A. Shchelochkov, Eric S. Schmitt
Publikováno v:
Molecular Genetics and Metabolism
CPSI deficiency usually results in severe hyperammonemia presenting in the first days of life warranting prompt diagnosis. Most CPS1 defects are non-recurrent, private mutations, including point mutation, small insertions and deletions. In this study
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cc292c4688525a7f8fe8cb9a7f370e6e
Autor:
A. Craig Chinault, Svetlana A. Yatsenko, James R. Lupski, Erin K. Roney, Ellen K. Brundage, Sau Wai Cheung
Publikováno v:
Human Molecular Genetics. 18:1924-1936
We characterized at the molecular level the genomic rearrangements in 28 unrelated patients with 9q34.3 subtelomeric deletions. Four distinct categories were delineated: terminal deletions, interstitial deletions, derivative chromosomes and complex r
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3b55ce635c3279b90e609153532c577e
https://doi.org/10.1093/hmg/ddp114
https://doi.org/10.1093/hmg/ddp114
Autor:
J. R. Lupski, Xueqing Wang, Seema R. Lalani, Zhishuo Ou, Richard A. Friedman, Jennifer K. Gentile, J. F. Martin, Tomohiko Ai, Amber N. Pursley, I. Hansmann, B. A. Boggs, A. C. Chinault, Gerald F. Cox, Pawel Stankiewicz, Gladys Zapata, Susan E. Waisbren, Jeffrey A. Towbin, Weimin Bi, Ellen K. Brundage, Mehrdad Khajavi, Chad A. Shaw, John W. Belmont, Jean J. Kim, S. Schnittger, Sau Wai Cheung, L. Ma, Subeena Sood, Lorraine Potocki, Joseph V. Thakuria, Molly S. Bray, Xander H.T. Wehrens
Publikováno v:
Journal of Medical Genetics. 46:168-175
Background: Wolff-Parkinson-White syndrome (WPW) is a bypass reentrant tachycardia that results from an abnormal connection between the atria and ventricles. Mutations in PRKAG2 have been described in patients with familial WPW syndrome and hypertrop
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8556a5f7f5bccb4754d19bd4d63650b2
https://doi.org/10.1136/jmg.2008.061002
https://doi.org/10.1136/jmg.2008.061002
Autor:
Weimei Di, Jiewen Li, A. Craig Chinault, Chun Yang, Ellen K. Brundage, Patrick J. Biggs, Allan Bradley, Hong Su, Mark A. Pershouse
Publikováno v:
Genomics. 69:139-142
Even with the completion of a draft version of the human genome sequence only a fraction of the genes identified from this sequence have known functions. Chromosomal engineering in mouse cells, in concert with gene replacement assays to prove the fun
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::30929d23bb671e0f96369cb2b2d9b7d5
https://doi.org/10.1006/geno.2000.6323
https://doi.org/10.1006/geno.2000.6323
Autor:
Zhilian Xia, Lorraine Potocki, Ellen K. Brundage, Gerardo Cabrera-Meza, Sau Wai Cheung, Amarilis Sanchez-Valle, Mary E. Carlin, Xueqing Wang, Pawel Stankiewicz, Seema R. Lalani, Anna Eifert, Sung Hae L. Kang, Donnice Michel, Patricia Williams
Publikováno v:
American journal of medical genetics. Part A. (11)
Branchio-oto-renal syndrome is characterized by branchial defects, hearing loss, preauricular pits, and renal anomalies. Mutations in EYA1 are the most common cause of branchio-oto-renal and branchio-otic syndromes. Large chromosomal aberrations of 8
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::07c4a88e5a2c443a5151d143cca7e042
https://pubmed.ncbi.nlm.nih.gov/20979191
https://pubmed.ncbi.nlm.nih.gov/20979191