Zobrazeno 1 - 10
of 15
pro vyhledávání: '"Katie Clarkson"'
Autor:
Renata Neves, Rafal Panek, Katie Clarkson, Ouliana Panagioti, Natasha Schneider Fernandez, Sophie Wilne, Mohnish Suri, William P. Whitehouse, Sumit Jagani, Madhumita Dandapani, Cris Glazebrook, Robert A. Dineen
Publikováno v:
Cancer Medicine, Vol 13, Iss 14, Pp n/a-n/a (2024)
Abstract Background/Objectives Ataxia telangiectasia (A‐T) is an inherited multisystem disorder with increased sensitivity to ionising radiation and elevated cancer risk. Although other cancer predisposition syndromes have established cancer screen
Externí odkaz:
https://doaj.org/article/06cc3ae5c68843c19a297c4539909959
Autor:
Eric G. Bend, Erfan Aref-Eshghi, David B. Everman, R. Curtis Rogers, Sara S. Cathey, Eloise J. Prijoles, Michael J. Lyons, Heather Davis, Katie Clarkson, Karen W. Gripp, Dong Li, Elizabeth Bhoj, Elaine Zackai, Paul Mark, Hakon Hakonarson, Laurie A. Demmer, Michael A. Levy, Jennifer Kerkhof, Alan Stuart, David Rodenhiser, Michael J. Friez, Roger E. Stevenson, Charles E. Schwartz, Bekim Sadikovic
Publikováno v:
Clinical Epigenetics, Vol 11, Iss 1, Pp 1-17 (2019)
Abstract Background ADNP syndrome is a rare Mendelian disorder characterized by global developmental delay, intellectual disability, and autism. It is caused by truncating mutations in ADNP, which is involved in chromatin regulation. We hypothesized
Externí odkaz:
https://doaj.org/article/57a3f24470ab45e9a3daea857bcee71b
Publikováno v:
Behavior Analysis: Research and Practice. 21:51-64
Autor:
Seul Kee Byeon, Silvia Radenkovic, Anna N. Ligezka, Stephen McGee, Sunnie Y.W. Wong, Angie Lichty, Akhilesh Pandey, Katie Clarkson, Tim Wood, Yuebo Zhang, Eva Morava, Mayank Saraswat, Anil K. Madugundu, Katharine Kubiak, Michael J. Friez, Wasantha Ranatunga, Taylor Fitzpatrick-Schmidt, Julie R. Jones
Publikováno v:
Mol Genet Metab
Pathogenic alterations in the DPM2 gene have been previously described in patients with hypotonia, progressive muscle weakness, absent psychomotor development, intractable seizures, and early death. We identified biallelic DPM2 variants in a 23-year-
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c0d4ae13fb63412d7d922af016600da6
https://lirias.kuleuven.be/handle/123456789/661788
https://lirias.kuleuven.be/handle/123456789/661788
Autor:
Karen W. Gripp, Laurie A. Demmer, Bekim Sadikovic, Jennifer Kerkhof, Eric G. Bend, Heather Davis, R. Curtis Rogers, Paul R. Mark, Michael A. Levy, Elizabeth J. Bhoj, Sara S. Cathey, Dong Li, Hakon Hakonarson, Alan Stuart, Michael J. Friez, Elaine H. Zackai, Erfan Aref-Eshghi, Charles E. Schwartz, Eloise J. Prijoles, Katie Clarkson, Roger E. Stevenson, David I. Rodenhiser, Michael J. Lyons, David B. Everman
Publikováno v:
Clinical Epigenetics
Paediatrics Publications
Clinical Epigenetics, Vol 11, Iss 1, Pp 1-17 (2019)
Paediatrics Publications
Clinical Epigenetics, Vol 11, Iss 1, Pp 1-17 (2019)
Background ADNP syndrome is a rare Mendelian disorder characterized by global developmental delay, intellectual disability, and autism. It is caused by truncating mutations in ADNP, which is involved in chromatin regulation. We hypothesized that the
Publikováno v:
Cancer Genetics. :S4
Autor:
Luc Régal, Katie Clarkson, Katherine Lachlan, Kati J. Buckingham, Charles J. Waechter, F. Sessions Cole, Kimiyo Raymond, Rita Barone, Daisy Rymen, Derek Wong, Arve Vøllo, Gert Matthijs, Jay Shendure, Alina T. Midro, Erik A. Eklund, Hudson H. Freeze, Rudy Van Coster, Gregory M. Cooper, Jeffrey S. Rush, Sergey A. Shiryaev, Luísa Diogo, Philip James, Andrew J. Kornberg, Laurie A. Demmer, Jose E. Abdenur, Valerie Race, Maria Kibaek, Shawn O'Connor, Lynne A. Wolfe, Amarilis Sanchez-Valle, Agata Fiumara, Miao He, Raymond Y. Wang, Alex J. Fay, Martin Kircher, Rebecca D. Ganetzky, William A. Gahl, Erika Souche, Füsun Alehan, Amy Yang, Michael J. Bamshad, Himanshu Goel, S. Lane Rutledge, Jane E. Brumbaugh, Susan Sparks, Daniel Katz, Can Ficicioglu, Bobby G. Ng, Jaak Jaeken, Heidi Peters, Christina Lam, Gerard T. Berry, Liesbeth Keldermans, Eric Vilain, Tim Wood, Lyndsay A. Harshman, Deborah A. Nickerson, Pamela Trapane, Joy Yaplito-Lee
Publikováno v:
Human Mutation. 37:653-660
Congenital disorders of glycosylation (CDG) arise from pathogenic mutations in over one hundred genes leading to impaired protein or lipid glycosylation. ALG1 encodes a β1,4 mannosyltransferase that catalyzes the addition of the first of nine mannos
Autor:
Nicholas Katsanis, Katie Clarkson, Grazia M.S. Mancini, Margot R.F. Reijnders, Ken Corning, Rolph Pfundt, Han G. Brunner, Carlo Marcelis, Thomas H. Millard, Nurhuda Mohamad Ansor, Ronald D. Cohn, Wyatt W. Yue, Siddharth Banka, Shehla Mohammed, Perciliz L. Tan, Jill Clayton-Smith, David Chitayat, Julie R. Jones, Wayne W.K. Lam, Maian Roifman, Maria Kousi
Publikováno v:
American Journal of Human Genetics, 101(3), 466-477. Cell Press
American Journal of Human Genetics, 101, 466-477
Reijners, M, Mohamad Ansor, N, Kousi, M, Yue, W, Tan, P, Clarkson, K, Clayton-Smith, J, Corning, K, Jones, J, Lam, W, Mancini, G, Marcelis, C, Mohammed, S, Pfundt, R, Roifman, M, Cohn, R, Chiayat, D, Millard, T, Katsanis, N, Brunner, H & Banka, S 2017, ' RAC1 Missense Mutations in Developmental Disorders with Diverse Phenotypes ', American Journal of Human Genetics, vol. 101, no. 3, pp. 466-477 . https://doi.org/10.1016/j.ajhg.2017.08.007
American Journal of Human Genetics, 101, 3, pp. 466-477
American Journal of Human Genetics, 101, 466-477
Reijners, M, Mohamad Ansor, N, Kousi, M, Yue, W, Tan, P, Clarkson, K, Clayton-Smith, J, Corning, K, Jones, J, Lam, W, Mancini, G, Marcelis, C, Mohammed, S, Pfundt, R, Roifman, M, Cohn, R, Chiayat, D, Millard, T, Katsanis, N, Brunner, H & Banka, S 2017, ' RAC1 Missense Mutations in Developmental Disorders with Diverse Phenotypes ', American Journal of Human Genetics, vol. 101, no. 3, pp. 466-477 . https://doi.org/10.1016/j.ajhg.2017.08.007
American Journal of Human Genetics, 101, 3, pp. 466-477
Contains fulltext : 177246.pdf (Publisher’s version ) (Open Access) RAC1 is a widely studied Rho GTPase, a class of molecules that modulate numerous cellular functions essential for normal development. RAC1 is highly conserved across species and is
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8f9623b7656adc84c2e5096ae5577f0f
https://cris.maastrichtuniversity.nl/en/publications/67276af2-5080-45c4-9c40-8c2fd0082d62
https://cris.maastrichtuniversity.nl/en/publications/67276af2-5080-45c4-9c40-8c2fd0082d62
Autor:
Hudson H. Freeze, Miao He, Madhuri Hegde, Tongzhong Ju, Katie Clarkson, Bobby G. Ng, Philip James, Kimiyo Raymond, Ghazia Asif, Xueli Li, Jiang Rong, Tim Wood, Baoyun Xia, Richard D. Cummings, Cornelius F. Boerkoel, Wenyue Zhang, Melanie A. Jones
Publikováno v:
Clinical chemistry. 62(1)
BACKGROUND Primary deficiencies in mannosylation of N-glycans are seen in a majority of patients with congenital disorders of glycosylation (CDG). We report the discovery of a series of novel N-glycans in sera, plasma, and cultured skin fibroblasts f
Autor:
Herbert A. Lubs, Charles E. Schwartz, Charles A. Williams, Richard J. Simensen, Katie Clarkson, Roger E. Stevenson, Jo-Ann Blaymore Bier, Dianne N. Abuelo, Michael J. Friez, Shashidhar Pai, Julie R. Jones, Philip F. Giampietro
Publikováno v:
Pediatrics. 118:e1687-e1695
OBJECTIVE. Our goal was to describe the neurologic and clinical features of affected males from families with X-linked patterns of severe mental retardation, hypotonia, recurrent respiratory infection, and microduplication of Xq28 that consistently i