Zobrazeno 1 - 9
of 9
pro vyhledávání: '"Mariana Kekis"'
Publikováno v:
Practical Oncologic Molecular Pathology ISBN: 9783030732264
Genetic testing for hereditary cancer syndromes and acquired malignancies is a routine part of personalized cancer treatment. Identifying germline variants for hereditary cancer syndromes and predisposition risks of non-hematologic and hematologic ma
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f43fec18da6473992bed21b317a0698a
https://doi.org/10.1007/978-3-030-73227-1_12
https://doi.org/10.1007/978-3-030-73227-1_12
Autor:
Christine Shuss, Mariana Kekis, Carol Deeg, Aimee McKinney, Caroline Astbury, Scott E. Hickey, Inga Calloway, Sayaka Hashimoto
Publikováno v:
European Journal of Medical Genetics. 59:569-572
Constitutional mosaicism for trisomy 3 is extremely rare, with only a few postnatally diagnosed cases reported in the literature. We report a case of constitutional trisomy 3 mosaicism in a 16-year-old female, who presented with chronic joint pain, e
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::550d3521df66151907c8764103f53059
https://doi.org/10.1016/j.ejmg.2016.10.002
https://doi.org/10.1016/j.ejmg.2016.10.002
Autor:
Sayaka Hashimoto, Carol Deeg, Cecelia Green-Geer, Linda Erdman, Mariana Kekis, Aimee McKinney, Caroline Astbury, Robert E. Pyatt, Scott E. Hickey, Christine Shuss
Publikováno v:
American journal of medical genetics. Part A. 173(4)
Intrachromosomal triplications are complex chromosomal rearrangements which arise during meiosis or mitosis and lead to a tetrasomic dose of the affected genomic regions. We describe a female patient harboring an intrachromosomal triplication who pre
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f1a615b2b6fb445c845ab45b61ba59c3
https://pubmed.ncbi.nlm.nih.gov/28328127
https://pubmed.ncbi.nlm.nih.gov/28328127
Autor:
Elaine C. Wirrell, Courtney J. Wusthoff, William D. Gaillard, Jason Coryell, Zachary M. Grinspan, Eric H. Kossoff, John J. Alexander, Tobias Loddenkemper, Ignacio Valencia, Renée A. Shellhaas, Nicole Ryan, Sookyong Koh, Kelly G. Knupp, Mariana Kekis, William B. Dobyns, John R. Mytinger, Edward J. Novotny, Anne T. Berg, Joseph Sullivan, Catherine J. Chu, Russell P. Saneto, Cynthia Keator
Publikováno v:
JAMA Pediatrics. 171:863
Importance Early-life epilepsies are often a consequence of numerous neurodevelopmental disorders, most of which are proving to have genetic origins. The role of genetic testing in the initial evaluation of these epilepsies is not established. Object
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::661e616130ccc0f1a539e87ff90d4c13
https://doi.org/10.1001/jamapediatrics.2017.1743
https://doi.org/10.1001/jamapediatrics.2017.1743
Autor:
Orlando D. Schärer, Bin Wu, Meghan M. Slean, Christopher E. Pearson, Frank H. T. Nelissen, Kerrie Nichol Edamura, Sybren S. Wijmenga, Mariana Kekis, Kaalak Reddy, Marco Tessari, Ruud L. E. G. Aspers
Publikováno v:
Biochemistry, 52, 5, pp. 773-785
Biochemistry
Biochemistry, 52, 773-785
Biochemistry
Biochemistry, 52, 773-785
Expansions of (CTG)·(CAG) repeated DNAs are the mutagenic cause of 14 neurological diseases, likely arising through the formation and processing of slipped-strand DNAs. These transient intermediates of repeat length mutations are formed by out-of-re
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::08c122e8a0b73df4dba85daff6378ec0
https://doi.org/10.1096/fasebj.27.1_supplement.542.12
https://doi.org/10.1096/fasebj.27.1_supplement.542.12
Autor:
Aida Abu-Baker, Tetsuo Ashizawa, Linda L. Bachinski, Albino Bacolla, Gillian P. Bates, John S. Belt, Dya Bezprozvanny, Sanjay Bidichandani, John J. Bissler, Alexis Brice, Kerri M. Carlson, CheunJu Chen, Thomas A. Cooper, Natividad Cortez-Apreza, John W. Day, Irene De Biase, Ruhee Dere, Didier Devys, Katherine A. Dick, Vincent Dion, Lisa M. Ellerby, Henry F. Epstein, Kenneth H. Fischbeck, Laurent Foiry, Rune R. Frants, Gwenn A. Garden, M´rio Gomes-Pereira, Geneviéve Gourdon, Paul J. Hagerman, Randi J Hagerman, Peter S. Harper, Vera I. Hashem, Michael R. Hayden, Micheal L. Hebert, Dominique Helmlinger, Emma Hockly, Susan E. Holmes, H.S. Hwang, Yoshio Ikeda, Kinya Ishikawa, George R. Jackson, Mariana Kekis, Beata Kosmider, Irina V. Kovtun, Ralf Krahe, Wlodzimierz J. Krzyzosiak, Albert R. La Spada, Jacquelynn E. Larson, Rachel Lau, Michael Leffak, Michelle R. Leonard, Yunfu Lin, Yuan Liu, Julien L. Marcadier, Jamie M. Margolis, Russell L. Margolis, Cynthia T. McMurray, Sergei M. Mirkin, Hidehiro Mizusawa, Darren G. Monckton, S. Erin Montgomery, Marek Napierala, David L. Nelson, Elizabeth O'Hearn, Ben A. Oostra, Harry T. Orr, George W. Padberg, Massimo Pandolfo, Gagan B. Panigrahi, Sharan Paul, Henry Paulson, Christopher E. Pearson, Olga Pletnikova, Vladimir N. Potaman, Mahmoud A. Pouladi, Rajendra Prasad, Héléne Puccio, Stefan M. Pulst, Malgorzata J. Pytlos, Laura P.W. Ranum, Lynn A. Raymond, Sita Reddy, Robert I. Richards, Christopher A. Ross, Guy Rouleau, Dobrila D. Rudnicki, Tzu-Kang Sang, Peggy E. Shelbourne, Michael J. Siciliano, Richard R. Sinden, Ram Singh, Krzysztof Sobczak, LesHe S. Son, Giovanni Stevanin, S. Strack, Maurice S. Swanson, J. Paul Taylor, Charles A. Thornton, Andrea Todd, Juan Troncoso, Ray Truant, Bjarne Udd, Karen Usdin, Silvere M. van der Maarel, Rene E.M.A. van Herpen, Caroline Vosch, Derick G. Wansink, Robert D. Wells, Ronald Wetzel, Bé Wieringa, Robert B. Wilson, Samuel H. Wilson, John H. Wilson, Marzena Wojciechowska
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::bd4cd0ded2f3ce9679528ecf02b5ccd4
https://doi.org/10.1016/b978-012369462-1/50000-4
https://doi.org/10.1016/b978-012369462-1/50000-4
Autor:
Rachel Lau, Gagan B. Panigrahi, Mariana Kekis, Christopher E. Pearson, S. Erin Montgomery, Michelle R. Leonard, Julien L. Marcadier, Caroline Vosch, Andrea Todd
Publikováno v:
Genetic Instabilities and Neurological Diseases (Second Edition)
Disease-associated repeat instability can occur in various patient tissues, including germ cells, proliferating somatic tissues, and nonproliferating tissues like the brain. Various DNA metabolic processes could potentially give rise to slipped DNAs
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::267a16bb6745f16c5532cee33a536d05
https://doi.org/10.1016/b978-012369462-1/50042-9
https://doi.org/10.1016/b978-012369462-1/50042-9
Autor:
Mariana Kekis, B. David Stollar, Mandy Tam, Christopher E. Pearson, Gerald B. Price, S. Erin Montgomery
Publikováno v:
Journal of molecular biology. 332(3)
At least 15 human diseases have been associated with the length-dependent expansion of gene-specific (CTG).(CAG) repeats, including myotonic dystrophy (DM1) and spinocerebellar ataxia type 1 (SCA1). Repeat expansion is likely to involve unusual DNA s
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::46c56d70a9ff964764fef58aa7897a3f
https://pubmed.ncbi.nlm.nih.gov/12963369
https://pubmed.ncbi.nlm.nih.gov/12963369
Autor:
Noah A Hahn, Alexander Marsolais, Xiao Li, Debashish Ray, J. Timothy Westwood, Craig A. Smibert, John D. Laver, Karen Yy Fung, Syed Nabeel-Shah, Hua Luo, Sachdev S. Sidhu, Howard D. Lipshitz, Kate B. Cook, Timothy P. Hughes, Mariana Kekis, Quaid Morris
Publikováno v:
Genome Biology
Background Brain tumor (BRAT) is a Drosophila member of the TRIM-NHL protein family. This family is conserved among metazoans and its members function as post-transcriptional regulators. BRAT was thought to be recruited to mRNAs indirectly through in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::374d3d17ec5e42e582f9889f9fb9790b