Zobrazeno 1 - 10
of 57
pro vyhledávání: '"Katharine Rudd"'
Autor:
Lucilla Pizzo, Jian Zhao, Adam Clayton, Julie Feusier, Coumarane Mani, Zoe Lewis, Rachel Lasher, Denise Quigley, Katharine Rudd, Erica Andersen, Bo Hong
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101509- (2024)
Externí odkaz:
https://doaj.org/article/3ffd598721554a448be10ae64dafc791
Autor:
Alev Cagla Ozdemir, Grace M Wynn, Aimee Vester, M Neale Weitzmann, Gretchen N Neigh, Shanthi Srinivasan, M Katharine Rudd
Publikováno v:
PLoS ONE, Vol 12, Iss 12, p e0188763 (2017)
The G-protein beta subunit 3 (GNB3) gene has been implicated in obesity risk; however, the molecular mechanism of GNB3-related disease is unknown. GNB3 duplication is responsible for a syndromic form of childhood obesity, and an activating DNA sequen
Externí odkaz:
https://doaj.org/article/6377138046d049ce892d693e55016244
Autor:
Karen E Hermetz, Scott Newman, Karen N Conneely, Christa L Martin, Blake C Ballif, Lisa G Shaffer, Jannine D Cody, M Katharine Rudd
Publikováno v:
PLoS Genetics, Vol 10, Iss 1, p e1004139 (2014)
Inverted duplications are a common type of copy number variation (CNV) in germline and somatic genomes. Large duplications that include many genes can lead to both neurodevelopmental phenotypes in children and gene amplifications in tumors. There are
Externí odkaz:
https://doaj.org/article/98cb361d57bb4a7581e7900cda9814ba
Publikováno v:
PLoS ONE, Vol 9, Iss 7, p e101607 (2014)
Chromosome breakage in germline and somatic genomes gives rise to copy number variation (CNV) responsible for genomic disorders and tumorigenesis. DNA sequence is known to play an important role in breakage at chromosome fragile sites; however, the s
Externí odkaz:
https://doaj.org/article/1a4cb382d8dd484b95117e0454221ac9
Autor:
Keith E Szulwach, Xuekun Li, Yujing Li, Chun-Xiao Song, Ji Woong Han, SangSung Kim, Sandeep Namburi, Karen Hermetz, Julie J Kim, M Katharine Rudd, Young-Sup Yoon, Bing Ren, Chuan He, Peng Jin
Publikováno v:
PLoS Genetics, Vol 7, Iss 6, p e1002154 (2011)
Covalent modification of DNA distinguishes cellular identities and is crucial for regulating the pluripotency and differentiation of embryonic stem (ES) cells. The recent demonstration that 5-methylcytosine (5-mC) may be further modified to 5-hydroxy
Externí odkaz:
https://doaj.org/article/d56adc1fb5e94987bfa629575df65a1e
Autor:
Nicole K. A. Wilson, Yohan Lee, Robert Long, Karen Hermetz, M. Katharine Rudd, Rachel Miller, Judith L. Rapoport, Anjené M. Addington
Publikováno v:
Case Reports in Genetics, Vol 2011 (2011)
Schizophrenia is a debilitating mental disorder affecting approximately 1% of the world's population. Childhood onset schizophrenia (COS), defined as onset before age 13, is a rare and severe form of the illness that may have more salient genetic inf
Externí odkaz:
https://doaj.org/article/5b5fd62e95114583b6c061a4d4100929
Autor:
M. Katharine Rudd, Maria Shaker, Demitrios Dedousis, Shashirekha Shetty, Shabnam Zarei, Melissa Keinath
Publikováno v:
Molecular Genetics and Metabolism. 132:S259-S260
Autor:
M Katharine Rudd, Cynthia Friedman, Sean S Parghi, Elena V Linardopoulou, Li Hsu, Barbara J Trask
Publikováno v:
PLoS Genetics, Vol 3, Iss 2, p e32 (2007)
Chromosome ends are known hotspots of meiotic recombination and double-strand breaks. We monitored mitotic sister chromatid exchange (SCE) in telomeres and subtelomeres and found that 17% of all SCE occurs in the terminal 0.1% of the chromosome. Telo
Externí odkaz:
https://doaj.org/article/adef68cc10b94e048e4721a4001415e4
Publikováno v:
American Journal of Medical Genetics Part A. 176:502-504
Autor:
Romela Pasion, Justin Schleede, Sabrina R. Williams, Peter Papenhausen, Jennifer Laffin, Kristy Lee, M. Katharine Rudd
Publikováno v:
Prenatal diagnosis. 38(12)
Noninvasive prenatal testing accurately detects trisomy for chromosomes 13, 21, and 18, but has a significantly lower positive predictive value for monosomy X. Discordant monosomy X results are often assumed to be due to maternal mosaicism, usually w