Zobrazeno 1 - 10
of 35
pro vyhledávání: '"Marjorie Withers"'
Autor:
Claudia Gonzaga-Jauregui, Tamar Harel, Tomasz Gambin, Maria Kousi, Laurie B. Griffin, Ludmila Francescatto, Burcak Ozes, Ender Karaca, Shalini N. Jhangiani, Matthew N. Bainbridge, Kim S. Lawson, Davut Pehlivan, Yuji Okamoto, Marjorie Withers, Pedro Mancias, Anne Slavotinek, Pamela J. Reitnauer, Meryem T. Goksungur, Michael Shy, Thomas O. Crawford, Michel Koenig, Jason Willer, Brittany N. Flores, Igor Pediaditrakis, Onder Us, Wojciech Wiszniewski, Yesim Parman, Anthony Antonellis, Donna M. Muzny, Nicholas Katsanis, Esra Battaloglu, Eric Boerwinkle, Richard A. Gibbs, James R. Lupski
Publikováno v:
Cell Reports, Vol 12, Iss 7, Pp 1169-1183 (2015)
Charcot-Marie-Tooth (CMT) disease is a clinically and genetically heterogeneous distal symmetric polyneuropathy. Whole-exome sequencing (WES) of 40 individuals from 37 unrelated families with CMT-like peripheral neuropathy refractory to molecular dia
Externí odkaz:
https://doaj.org/article/b23784000fc94e8fa5337756d5dd9e52
Autor:
Marjorie Withers
Publikováno v:
Maine Policy Review, Vol 18, Iss 1 (2009)
Externí odkaz:
https://doaj.org/article/cc3fe9d1cea24e9ab8c172a55f66310c
Autor:
Adrian Gherman, Peter E Chen, Tanya M Teslovich, Pawel Stankiewicz, Marjorie Withers, Carl S Kashuk, Aravinda Chakravarti, James R Lupski, David J Cutler, Nicholas Katsanis
Publikováno v:
PLoS Genetics, Vol 3, Iss 7, p e119 (2007)
The modern synthetic view of human evolution proposes that the fixation of novel mutations is driven by the balance among selective advantage, selective disadvantage, and genetic drift. When considering the global architecture of the human genome, th
Externí odkaz:
https://doaj.org/article/f1460fc8893845b5ae85367cb4e342c9
Autor:
William A. Gahl, Elizabeth A. Burke, Yajun Tang, Melissa G. Dominguez, Ron A. Deckelbaum, May Christine V. Malicdan, Michael Podgorski, Brian Zambrowicz, James R. Lupski, Christopher J. Scheonherr, Wendy K. Chung, Dennis Delgado, Aris N. Economides, John Dronzek, Nicholas W. Gale, Richard A. Gibbs, Prasad Sarangapani, Samer Nuwayhid, Matthew C. Franklin, Harikiran Nistala, Shek Man Chim, Claudia Gonzaga-Jauregui, Saathyaki Rajamani, Ender Karaca, Marjorie Withers
Publikováno v:
Human Molecular Genetics
Neurodevelopmental disorder with microcephaly, hypotonia and variable brain anomalies (NMIHBA) is an autosomal recessive neurodevelopmental and neurodegenerative disorder characterized by global developmental delay and severe intellectual disability.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0571f97e78204efd705fe7ef33c99a53
http://europepmc.org/articles/PMC7788287
http://europepmc.org/articles/PMC7788287
Autor:
Samer Nuwayhid, Harikiran Nistala, Saathyaki Rajamani, Richard A. Gibbs, Christopher J. Scheonherr, Dennis Delgado, Yajun Tang, James R. Lupski, John Dronzek, May Christine V. Malicdan, Matthew C. Franklin, Michael Podgorski, Ender Karaca, Claudia Gonzaga-Jauregui, Melissa G. Dominguez, Ron A. Deckelbaum, Marjorie Withers, Wendy K. Chung, Aris N. Economides, Brian Zambrowicz, Elizabeth A. Burke, Shek Man Chim, Nicholas W. Gale, William A. Gahl, Prasad Sarangapani
Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies (NMIHBA) is an autosomal recessive neurodevelopmental and neurodegenerative disorder characterized by global developmental delay and severe intellectual disability
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::09a25f9eed0ffba184f5c372d32b5a24
https://doi.org/10.1101/2020.03.02.973909
https://doi.org/10.1101/2020.03.02.973909
Autor:
Priya S. Shah, Nevan J. Krogan, Nichole Link, Burak Tepe, Beyhan Tüysüz, Hugo J. Bellen, Bilgen Bilge Geçkinli, James R. Lupski, Ganesh H. Mochida, Marjorie Withers, Ajay X. Thomas, Hatip Aydin, Ghayda M. Mirzaa, Benjamin R. Arenkiel, Angad Jolly, Robin D. Clark, Sedat Isikay, Tulay Tos, Hyunglok Chung
Publikováno v:
Developmental cell, vol 51, iss 6
Dev Cell
Dev Cell
The apical Par complex, which contains atypical protein kinase C (aPKC), Bazooka (Par-3), and Par-6, is required for establishing polarity during asymmetric division of neuroblasts in Drosophila, and its activity depends on L(2)gl. We show that loss
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::290993b760c987f9d60253c21c0672fe
https://escholarship.org/uc/item/4np6183x
https://escholarship.org/uc/item/4np6183x
Autor:
Dirk Czesnik, Richard A. Gibbs, Zeynep Coban Akdemir, Christine R. Beck, Marjorie Withers, James R. Lupski, Tamar Harel, Claudia M.B. Carvalho, Donna M. Muzny, Yuji Okamoto, Wojciech Wiszniewski, Michael W. Sereda, Davut Pehlivan, Claudia Gonzaga-Jauregui, Shalini N. Jhangiani, Meryem Tuba Goksungur, Bernd Rautenstrauss
Publikováno v:
Genetics in Medicine. 18:443-451
Charcot-Marie-Tooth (CMT) disease is a heterogeneous group of genetic disorders of the peripheral nervous system. Copy-number variants (CNVs) contribute significantly to CMT, as duplication of PMP22 underlies the majority of CMT1 cases. We hypothesiz
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5fa12ee1d881f8567f6f17f9ee2669fc
https://doi.org/10.1038/gim.2015.124
https://doi.org/10.1038/gim.2015.124
Autor:
RuthAnne Spence, Jennifer L. Morton, Marjorie Withers, Shelley Cohen Konrad, Carry Buterbaugh
Publikováno v:
Work. 50:413-423
BACKGROUND: The antecedents that contribute to health disparities in maternal child health populations begin before birth and extend into the early prenatal and gestational growth periods. Mothers and infants living in rural poverty in particular are
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::01b62340939619ec3017dbdfdf7c68cc
https://doi.org/10.3233/wor-151999
https://doi.org/10.3233/wor-151999
Autor:
Divya Kalra, Jianhong Hu, James R. Lupski, Zeynep Coban Akdemir, Adam C. English, Claudia M.B. Carvalho, Qingchang Meng, Zechen Chong, P. J. Hastings, Chad A. Shaw, Edward S. Chen, Fritz J. Sedlazeck, Shalini N. Jhangiani, Bo Yuan, Harsha Doddapaneni, Richard A. Gibbs, Pengfei Liu, Christine R. Beck, Yi Han, Philip C. Thornton, Kimberly Walker, Ken Chen, Xiaofei Song, Grzegorz Ira, Donna M. Muzny, Marjorie Withers
Publikováno v:
Cell. 176:1310-1324.e10
DNA rearrangements resulting in human genome structural variants (SVs) are caused by diverse mutational mechanisms. We used long- and short-read sequencing technologies to investigate end products of de novo chromosome 17p11.2 rearrangements and quer
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cdffe549cf4a5eebac0e546fa95ee28c
https://doi.org/10.1016/j.cell.2019.01.045
https://doi.org/10.1016/j.cell.2019.01.045
Autor:
Yi-Ping Ho, Emil L. Kristoffersen, Jèssica B. Cifuentes, James R. Lupski, Lærke Bay Marcussen, Josephine Vagner, Anita T. Simonsen, Sissel Juul, Charlotte Harmsen, Birgitta R. Knudsen, Rikke Frøhlich, Marjorie Withers, Pia W. Jensen, Magnus Stougaard, Jørn Koch, Mattia Falconi, Alessandro Desideri
Publikováno v:
Jensen, P W, Falconi, M, Kristoffersen, E L, Simonsen, A T, Cifuentes, J B, Marcussen, L, Hougaard, R F, Vagner, J, Harmsen, C, Jensen, S J, Ho, Y-P, Withers, M A, Lupski, J R, Koch, J E, Desideri, A, Knudsen, B R & Stougaard, M 2013, ' Real-time detection of TDP1 activity using a fluorophore-quencher coupled DNA-biosensor ', Biosensors and Bioelectronics, vol. Volume 48, pp. 230–237 . https://doi.org/10.1016/j.bios.2013.04.019
Real-time detection of enzyme activities may present the easiest and most reliable way of obtaining quantitative analyses in biological samples. We present a new DNA-biosensor capable of detecting the activity of the potential anticancer drug target
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::14e2e0c11a5b161615b2dbd11dbf8340
https://doi.org/10.1016/j.bios.2013.04.019
https://doi.org/10.1016/j.bios.2013.04.019