Zobrazeno 1 - 10
of 11
pro vyhledávání: '"Erin K. Roney"'
Autor:
Vincenzo A Gennarino, Callison E Alcott, Chun-An Chen, Arindam Chaudhury, Madelyn A Gillentine, Jill A Rosenfeld, Sumit Parikh, James W Wheless, Elizabeth R Roeder, Dafne DG Horovitz, Erin K Roney, Janice L Smith, Sau W Cheung, Wei Li, Joel R Neilson, Christian P Schaaf, Huda Y Zoghbi
Publikováno v:
eLife, Vol 4 (2015)
The brain is sensitive to the dose of MeCP2 such that small fluctuations in protein quantity lead to neuropsychiatric disease. Despite the importance of MeCP2 levels to brain function, little is known about its regulation. In this study, we report el
Externí odkaz:
https://doaj.org/article/7168d83de16d46b7ae23b7d971a06ba0
Autor:
Erin K. Roney, Sau Wai Cheung, Carlos A. Bacino, Ankita Patel, Srirangan Sampath, Justin Pham, James R. Lupski, Weimin Bi, Tomasz Gambin, Patricia Hixson, Seema R. Lalani, Amber Pursley, Pawel Stankiewicz, Chad A. Shaw, Sung-Hae L. Kang
Publikováno v:
European Journal of Human Genetics
Somatic chromosomal mosaicism arising from post-zygotic errors is known to cause several well-defined genetic syndromes as well as contribute to phenotypic variation in diseases. However, somatic mosaicism is often under-diagnosed due to challenges i
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::60960dc60b4815184cf9e2f4f418f758
http://europepmc.org/articles/PMC4350600
http://europepmc.org/articles/PMC4350600
Autor:
Lindsay C. Burrage, Erin K. Roney, Patricia Hixson, Sau Wai Cheung, Luis M. Franco, Tanya N. Eble
Publikováno v:
American Journal of Medical Genetics Part A. 161:841-844
Interstitial deletions involving 2q24 have been associated with a wide range of phenotypes including intellectual disability and short stature. To date, the smallest common region among reported cases of deletions in this region is approximately 2.65
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e386b1fa371c455df05cbb92409823e7
https://doi.org/10.1002/ajmg.a.35751
https://doi.org/10.1002/ajmg.a.35751
Autor:
Carlos A. Bacino, William J. Craigen, Christian P. Schaaf, Erin K. Roney, Amy M. Breman, Maria Blazo, Sau Wai Cheung, Frank J. Probst
Publikováno v:
American Journal of Medical Genetics Part A. 155:1465-1468
TO THE EDITOR: Most cases of Edwards syndrome result from an extra copy of chromosome 18 (Trisomy 18) [Edwards et al., 1960], however, a small fraction of individuals have unbalanced translocations or isochromosome 18q (i(18q)) [Bass et al., 1979; Fr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::01f94d288962eae84aa4aadf61c55f69
https://doi.org/10.1002/ajmg.a.33935
https://doi.org/10.1002/ajmg.a.33935
Publikováno v:
American Journal of Medical Genetics Part A. :453-458
Duplications involving portions of the long arm of the X-chromosome can be associated with mental retardation, short stature, microcephaly, panhypopituitarism, and a wide range of physical findings. Less common are duplications in distal Xq associate
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e70a9ede7434953bf46c5479cc37ffc0
https://doi.org/10.1002/ajmg.a.33227
https://doi.org/10.1002/ajmg.a.33227
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:
Erin K. Roney, Christian P. Schaaf, Dafne D G Horovitz, Wei Li, Jill A. Rosenfeld, Elizabeth Roeder, Joel R. Neilson, Arindam Chaudhury, Callison E Alcott, Janice L. Smith, Huda Y. Zoghbi, Madelyn A. Gillentine, Sau Wai Cheung, Sumit Parikh, Vincenzo A. Gennarino, James W. Wheless, Chun-An Chen
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::d57dbe81af9d26a7fafe71829b0f1a10
https://doi.org/10.7554/elife.10782.011
https://doi.org/10.7554/elife.10782.011
Autor:
Chun-An Chen, Christian P. Schaaf, James W. Wheless, Wei Li, Joel R. Neilson, Sau Wai Cheung, Sumit Parikh, Huda Y. Zoghbi, Madelyn A. Gillentine, Vincenzo A. Gennarino, Callison E Alcott, Jill A. Rosenfeld, Elizabeth Roeder, Erin K. Roney, Janice L. Smith, Dafne D G Horovitz, Arindam Chaudhury
Publikováno v:
eLife, Vol 4 (2015)
eLife
eLife
The brain is sensitive to the dose of MeCP2 such that small fluctuations in protein quantity lead to neuropsychiatric disease. Despite the importance of MeCP2 levels to brain function, little is known about its regulation. In this study, we report el
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d1ce8c92f74067690ff17fc95bf277d5
https://elifesciences.org/articles/10782
https://elifesciences.org/articles/10782
Autor:
Sau Wai Cheung, Brian S. Carter, M. Williams, Katie Plunkett, Joanna Wiszniewska, Ankita Patel, James R. Lupski, Weimin Bi, Pawel Stankiewicz, Frank J. Probst, Erin K. Roney, Cathy A. Stevens
Publikováno v:
Journal of medical genetics. 49(11)
Background Genomic rearrangements usually involve one of the two chromosome homologues. Homozygous microdeletion/duplication is very rare. The chromosome 22q11.2 region is prone to recurrent rearrangements due to the presence of low-copy repeats. A c
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::266f138dc858d38f85724be113bef1b4
https://pubmed.ncbi.nlm.nih.gov/23042811
https://pubmed.ncbi.nlm.nih.gov/23042811
Autor:
Patricia Hixson, Robbin Palmer, Christian P. Schaaf, James R. Lupski, Svetlana A. Yatsenko, Erin K. Roney, Yu-Tze Ng, Richard Fisher, Daryl A. Scott, Ankita Patel, Sau Wai Cheung
Publikováno v:
Human genetics. 131(12)
Constitutional deletions of distal 9q34 encompassing the EHMT1 (euchromatic histone methyltransferase 1) gene, or loss-of-function point mutations in EHMT1, are associated with the 9q34.3 microdeletion syndrome, also known as Kleefstra syndrome [MIM#
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bfc48c24c0333f67630e357c73850df6
https://pubmed.ncbi.nlm.nih.gov/22890305
https://pubmed.ncbi.nlm.nih.gov/22890305