Zobrazeno 1 - 10
of 29
pro vyhledávání: '"Thérèse M. F. Tuohy"'
Autor:
Steve D. Wilton, Olga L. Gurvich, Christine B. Anderson, Kevin M. Flanigan, Thérèse M. F. Tuohy, Michael T. Howard, Richard S. Finkel, Robert B. Weiss, Livija Medne
Publikováno v:
Annals of Neurology. 63:81-89
Objective The degenerative muscle diseases Duchenne (DMD) and Becker muscular dystrophy result from mutations in the DMD gene, which encodes the dystrophin protein. Recent improvements in mutational analysis techniques have resulted in the increasing
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cbbdfa9a820183fb1cf47b3758560367
https://doi.org/10.1002/ana.21290
https://doi.org/10.1002/ana.21290
Autor:
Randall W. Burt, Angela L. Schwab, Deborah W. Neklason, Thérèse M. F. Tuohy, Michelle W Condie
Publikováno v:
Familial Cancer. 7:173-177
De novo mutations in the adenomatous polyposis coli (APC) gene are estimated to constitute approximately 25% of familial adenomatous polyposis (FAP) cases. A small percentage of these arise in the mosaic form, affecting only a subset of cells in the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::60fdb76f31a57754e2eeaf18351e0148
https://doi.org/10.1007/s10689-007-9169-1
https://doi.org/10.1007/s10689-007-9169-1
Autor:
Frank H. Chan, Mahendra S. Rao, Ying Liu, Bruce F. Bebo, Tilat A. Rizvi, Nicholas Wallingford, Rubing Xing, Thérèse M. F. Tuohy, Larry S. Sherman
Publikováno v:
Glia. 47:335-345
The CD44 transmembrane glycoprotein family has been implicated in cell-cell adhesion and cell signaling in response to components of the extracellular matrix but its role in the nervous system is not understood. CD44 proteins are elevated in Schwann
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4905f340c28c98079d43925b59c73991
https://doi.org/10.1002/glia.20042
https://doi.org/10.1002/glia.20042
Autor:
Reshma Rangwala, Jaime N. Struve, Larry S. Sherman, Thérèse M. F. Tuohy, Nicholas M. Wallingford, Charles Kuntz
Publikováno v:
Glia. 38:93-102
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f6fdd2b096660091781d9a7715591cfd
https://doi.org/10.1002/glia.10053
https://doi.org/10.1002/glia.10053
Autor:
Joanna Groden, Thérèse M. F. Tuohy
Publikováno v:
Human Mutation. 12:122-127
A method for concatenating exons from genomic DNA, thereby skipping large stretches of intron sequence, has been developed using the polymerase chain reaction (PCR) with primers based on known intron–exon junction sequences. The use of genomic DNA
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::eea21018c0179df7330652ab31060737
https://doi.org/10.1002/(sici)1098-1004(1998)12:2<122::aid-humu7>3.0.co
https://doi.org/10.1002/(sici)1098-1004(1998)12:2<122::aid-humu7>3.0.co
Autor:
Thérèse M F, Tuohy, Kerry G, Rowe, Geraldine P, Mineau, Richard, Pimentel, Randall W, Burt, N Jewel, Samadder
Publikováno v:
Cancer. 120(1)
Guidelines recommend that individuals with a first-degree relative (FDR) diagnosed with colorectal cancer (CRC) or advanced adenoma before age 60 years should undergo colonoscopy starting at age 40 years. The authors quantified the risk of adenomas a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::7966ab766a73f972de299526bfcc587f
https://pubmed.ncbi.nlm.nih.gov/24150996
https://pubmed.ncbi.nlm.nih.gov/24150996
Publikováno v:
Journal of Molecular Biology. 235:1369-1376
An unusual, spontaneously arising mutant of Escherichia coli tRNA Arg 2 has been deduced to have two extra nucleotides in its anticodon loop and a duplication of ten nucleotide residues in the TFC loop. This conclusion is based on its gene sequence,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::62a353a553638c4c6a2c8e8b52665a1d
https://doi.org/10.1006/jmbi.1994.1093
https://doi.org/10.1006/jmbi.1994.1093
Autor:
David J. Witherspoon, Jinchuan Xing, Stephen L. Guthery, Lynn B. Jorde, Scott R. Woodward, W. Scott Watkins, Randall W. Burt, Tatum S. Simonson, Thérèse M. F. Tuohy, Chad D. Huff, Yuhua Zhang, Deborah W. Neklason
Publikováno v:
Genome research. 21(5)
Accurate estimation of recent shared ancestry is important for genetics, evolution, medicine, conservation biology, and forensics. Established methods estimate kinship accurately for first-degree through third-degree relatives. We demonstrate that ch
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::83a212dd6b8a38df4dd7cc4c2089bf35
https://pubmed.ncbi.nlm.nih.gov/21324875
https://pubmed.ncbi.nlm.nih.gov/21324875
Autor:
David A. Stevenson, Thérèse M. F. Tuohy, James E. Coxworth, Anita Y. Kinney, Fallon R. Levine, Randall W. Burt
Familial adenomatous polyposis (FAP) is the second most common hereditary colorectal cancer syndrome and confers a nearly 100% lifetime risk of developing colorectal cancer. Understanding factors that facilitate and inhibit genetic testing and cancer
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3fb93a833baa7a55295046e4520f0e5f
https://europepmc.org/articles/PMC3020788/
https://europepmc.org/articles/PMC3020788/
Autor:
Randall W. Burt, Thérèse M. F. Tuohy
Publikováno v:
Hereditary Colorectal Cancer ISBN: 9781441966025
Attenuated familial adenomatous polyposis is a variant of familial adenomatous polyposis (FAP) in which patients present with 99 or fewer cumulative polyps in the colon and/or rectum, with a tendency toward more proximal colonic polyps [1, 2]. The
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::795f5a2fa80fea618db90518b96165cc
https://doi.org/10.1007/978-1-4419-6603-2_14
https://doi.org/10.1007/978-1-4419-6603-2_14