Zobrazeno 1 - 10
of 16
pro vyhledávání: '"Ann M. Joseph-George"'
Autor:
Peter J. B. Sabatini, Resham Ejaz, Dimitri J. Stavropoulos, Roberto Mendoza-Londono, Ann M. Joseph-George
Publikováno v:
Molecular Cytogenetics, Vol 11, Iss 1, Pp 1-5 (2018)
Abstract Background Complex genomic structural variations, involving chromoanagenesis, have been implicated in multiple congenital anomalies and abnormal neurodevelopment. Familial inheritance of complex chromosomal structural alteration resulting fr
Externí odkaz:
https://doaj.org/article/30439dec26e44dfdb08ade0f42c79039
Autor:
Jonathan M. Coutinho, Roshni R. Singaraja, Martin Kang, David J. Arenillas, Lisa N. Bertram, Nagat Bissada, Bart Staels, Jean-Charles Fruchart, Catherine Fievet, Ann M. Joseph-George, Wyeth W. Wasserman, Michael R. Hayden
Publikováno v:
Journal of Lipid Research, Vol 46, Iss 6, Pp 1113-1123 (2005)
Humanized mouse models are useful tools to explore the functional and regulatory differences between human and murine orthologous genes. We have combined a bioinformatics approach and an in vivo approach to assess the functional and regulatory differ
Externí odkaz:
https://doaj.org/article/d92660a5138a4dc6b2fd57727cefc16a
Autor:
Wilson W L Sung, S. Mohsen Hosseini, Brett Trost, Stephen W. Scherer, John Wei, James Ellis, Jeffrey R. MacDonald, Sarah Bowdin, Janet A. Buchanan, M. Stephen Meyn, Miriam S. Reuter, Rohan V. Patel, Giovanna Pellecchia, Allison Hazell, Ryan A. Cook, Sergio L. Pereira, Bhooma Thiruvahindrapuram, Jennifer L. Howe, Iris Cohn, Lisa J. Strug, Ryan K. C. Yuen, Peter Pasceri, Yvonne Bombard, Joe Whitney, Hin C. Lee, Tara Paton, Anne S. Bassett, Rosanna Weksberg, Jill Davies, Barbara Kellam, Dimitri J. Stavropoulos, Wei Wei, Christian R. Marshall, Cheryl Shuman, Marc Fiume, Fred W. Keeley, Richard F. Wintle, Matthew R. Hildebrandt, Jo Anne Herbrick, Zhuozhi Wang, Peter N. Ray, Thomas Nalpathamkalam, Ronald D. Cohn, Sherilyn L. Bell, Neal Sondheimer, Daniele Merico, Susan Walker, Ann M. Joseph-George, Melanie M. Mahtani, Asli Romm, Chao Lu, Michael J. Szego, Nasim Monfared
Publikováno v:
Canadian Medical Association Journal. 190:E126-E136
BACKGROUND: The Personal Genome Project Canada is a comprehensive public data resource that integrates whole genome sequencing data and health information. We describe genomic variation identified in the initial recruitment cohort of 56 volunteers. M
Autor:
Ebba Alkhunaizi, Ann M. Joseph-George, Fowzan S. Alkuraya, Susan Blaser, Sanjay Kumar Bharti, Mais Hashem, Nicole Martin, Ranad Shaheen, Robert M. Brosh, David Chitayat, Mohammed Al-Owain, Mohammed A. Butt, Ghada M H Abdel-Salam, Karen Chong, Blake C. Papsin, Ruth Godoy
Publikováno v:
American journal of medical genetics. Part A. 176(11)
Warsaw breakage syndrome (WBS) is a recently recognized DDX11-related rare cohesinopathy, characterized by severe prenatal and postnatal growth restriction, microcephaly, developmental delay, cochlear anomalies and sensorineural hearing loss. Only se
Autor:
Stephen W. Scherer, Bhooma Thiruvahindrapuram, Ann M. Joseph-George, Peter Kannu, Emmanuelle Lemyre, Ada Chan, Susan Walker, Mary Shago, Grace Yoon, Janet A. Buchanan, Abdul Noor, Lia D’Abate, Christian R. Marshall, Melissa T. Carter, Sonia Nizard, Mehdi Zarrei, Géraldine Mathonnet, Kristiina Tammimies, Thomas Nalpathamkalam, Ryan K. C. Yuen, Mohammed Uddin, Frédérique Tihy, Daniele Merico, Dimitri J. Stavropoulos, Giovanna Pellecchia, Matthew J. Gazzellone, Erik C. Thorland, Koenraad Devriendt, Marsha Speevak
Publikováno v:
Scientific Reports
A challenge in clinical genomics is to predict whether copy number variation (CNV) affecting a gene or multiple genes will manifest as disease. Increasing recognition of gene dosage effects in neurodevelopmental disorders prompted us to develop a com
Publikováno v:
Neurology: Genetics
A previously healthy 16-year-old girl of Jamaican descent presented with a 1-year history of progressive daytime somnolence, sleep attacks (sudden irresistible episodes of sleep), and paroxysms of altered level of consciousness. Her parents also repo
Autor:
Charles Lee, Matthew E. Hurles, Xavier Estivill, Muhammad Rafiq, Lars Feuk, Yongshu He, Stephen W. Scherer, Lorena Pantano, Ann M. Joseph-George, Keith W. Jones, Richard J. Mural, Richard Redon, Razi Khaja, John Wei, Junjun Zhang, Lluís Armengol, Mary Shago, Hiroyuki Aburatani, Cheng Qian, Jeffrey R. MacDonald
Publikováno v:
Nature Genetics. 38:1413-1418
Numerous types of DNA variation exist, ranging from SNPs to larger structural alterations such as copy number variants (CNVs) and inversions. Alignment of DNA sequence from different sources has been used to identify SNPs1,2 and intermediate-sized va
Autor:
Ann M. Joseph-George, Claire Jones, David Chitayat, Matthew Vlasschaert, Georges Maire, Karen Chong, Elena Kolomietz, Rebecca Arthur, Diane Myles-Reid
Publikováno v:
Systems biology in reproductive medicine. 60(6)
Intrachromosomal insertions are rare and difficult to diagnose. However, making the correct diagnosis is critical for genetic risk assessment, and prenatal and preimplantation genetic diagnosis outcomes. We present a case of preimplantation genetic d
Autor:
Cynthia J. Guidos, Eniko Papp, Jayne S. Danska, Paul E. Kowalski, Raymond C.C. Wong, Ildiko Grandal, Radia M. Johnson, Lauryl M. J. Nutter, Ann M. Joseph-George
Publikováno v:
Genesdevelopment. 28(11)
During V(D)J recombination of immunoglobulin genes, p53 and nonhomologous end-joining (NHEJ) suppress aberrant rejoining of DNA double-strand breaks induced by recombinase-activating genes (Rags)-1/2, thus maintaining genomic stability and limiting m
Autor:
Yongshu He, Ann M. Joseph-George, Christian R. Marshall, Kathy Chun, Ciara A Fahey, David Chitayat, Jeffrey R. MacDonald, Greg Ryan, Elizabeth J.T. Winsor, Raymond C.C. Wong, Anne Summers, Stephen W. Scherer
Publikováno v:
Journal of medical genetics. 48(5)
Background There are four known pericentromeric euchromatic variants of chromosome 9 in the literature that are increasingly being observed in diagnostic cytogenetic laboratories. These variants pose diagnostic and counselling dilemmas, especially in