Zobrazeno 1 - 10
of 26
pro vyhledávání: '"Brant C. Hendrickson"'
Autor:
Jeremy P. Cheadle, Thomas Scholl, Richard Wenstrup, Julian R. Sampson, Cynthia Frye, Valentina Moskvina, James Colley, Edward Rawstorne, Natalie Jones, Brant C. Hendrickson, Kristilyn Eliason, Anthony R. Dallosso, Duncan Azzopardi
Supplementary Tables S1 & S2 from Multiple Rare Nonsynonymous Variants in the Adenomatous Polyposis Coli Gene Predispose to Colorectal Adenomas
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a2faa7989d9549c33ee98d6950d46357
https://doi.org/10.1158/0008-5472.22374266
https://doi.org/10.1158/0008-5472.22374266
Autor:
Jeremy P. Cheadle, Thomas Scholl, Richard Wenstrup, Julian R. Sampson, Cynthia Frye, Valentina Moskvina, James Colley, Edward Rawstorne, Natalie Jones, Brant C. Hendrickson, Kristilyn Eliason, Anthony R. Dallosso, Duncan Azzopardi
It has been proposed that multiple rare variants in numerous genes collectively account for a substantial proportion of multifactorial inherited predisposition to a variety of diseases, including colorectal adenomas (CRA). We have studied this hypoth
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::a6ea15f7a9b874c8170615e5fc6b2bbd
https://doi.org/10.1158/0008-5472.c.6497375
https://doi.org/10.1158/0008-5472.c.6497375
Autor:
Abdallah A. Diallo, K. Dembele, Guida Landouré, Ilo Dicko, Moussa Traoré, Arouna Togora, Souleymane Coulibaly, Mariam Sylla, Seydou Doumbia, K Traoré, Alice B. Schindler, Barrington G. Burnett, Mamadou Dolo, Mamadou karembe, Amadou Toure, Brant C. Hendrickson, B Maiga, Modibo Sangare, Kenneth H. Fischbeck, Sekou F. Traore, C.O. Guinto, Youlouza Coulibaly, Katherine V. Bricceno, Katherine G. Meilleur, Angela Kokkinis, Housseini Dolo, Adama Sissoko, Siaka Y. Coulibaly, Yaya Ibrahim Coulibaly, Youssoufa Maiga, Brehima Diakite, Yaya Kassogue, Hammadoun Ali Sangho
Publikováno v:
eNeurologicalSci
eNeurologicalSci, Vol 3, Iss C, Pp 17-20 (2016)
eNeurologicalSci, Vol 3, Iss C, Pp 17-20 (2016)
Introduction: Spinal muscular atrophy (SMA) and sporadic amyotrophic lateral sclerosis (SALS) are both motor neuron disorders. SMA results from the deletion of the survival motor neuron (SMN) 1 gene. High or low SMN1 copy number and the absence of SM
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ef5e9b0f5ccc0ef864e8469c2e5a2911
http://europepmc.org/articles/PMC5803066
http://europepmc.org/articles/PMC5803066
Autor:
Kristen Zukosky, Manfred Boehm, Andrew B. Singleton, Guibin Chen, Fatoumata N'Go Yaro, Sungyoung Auh, Jonathan H. Nofziger, Mahamadou Traoré, Ke-lian Chen, Rick M. Fairhurst, Alice B. Schindler, Ali Saad, Guida Landouré, Modibo Sangare, Kenneth H. Fischbeck, Barrington G. Burnett, Katherine G. Meilleur, Brant C. Hendrickson, Hee‐Suk Lee, Katherine V. Bricceno, Evgenia Pak, Thomas Scholl, Nouhoum Bocoum, Koumba Bagayogo, Michael P. Fay, Mahamadou Diakite, Abdelbasset Amara, George G. Harmison, Youssoufa Maiga, Hammadoun Ali Sango, Fatoumata Daou, Amalia Dutra, Aldiouma Guindo, Christopher Grunseich, Yaya Ibrahim Coulibaly, Moez Gribaa
Publikováno v:
Annals of Neurology
Objective Spinal muscular atrophy (SMA) is one of the most common severe hereditary diseases of infancy and early childhood in North America, Europe, and Asia. SMA is usually caused by deletions of the survival motor neuron 1 (SMN1) gene. A closely r
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a8730781056e7c547a7000bbf6363e92
https://doi.org/10.1002/ana.24114
https://doi.org/10.1002/ana.24114
Autor:
Angela Leo, Viatcheslav R. Akmaev, Matthew S. Lebo, Brant C. Hendrickson, Thomas Scholl, Andrew M. Walker
Publikováno v:
The Journal of Molecular Diagnostics. 14:550-559
Array-based comparative genome hybridization (aCGH) is a powerful, data-intensive technique used to identify genomic copy number variation throughout the human genome. The use of aCGH clinically to identify pathogenic copy number aberrations is becom
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fb5dff7beee7380706a3651061a3af89
https://doi.org/10.1016/j.jmoldx.2012.06.002
https://doi.org/10.1016/j.jmoldx.2012.06.002
Autor:
Kerry Flynn, Paul Labrousse, Andrew M. Walker, Christopher Sears, Bernice A Allitto, Colin Donohoe, Elizabeth M. Rohlfs, Elaine A Sugarman, Leonid Boguslavskiy, Brant C. Hendrickson, Thomas Scholl, Viatcheslav R. Akmaev
Publikováno v:
Journal of Medical Genetics
Background: Spinal muscular atrophy (SMA) is the most common inherited lethal disease of children. Various genetic deletions involving the bi-allelic loss of SMN1 exon 7 are reported to account for 94% of affected individuals. Published literature pl
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4243e8e043d9317c943aba9ebb0e8587
https://doi.org/10.1136/jmg.2009.066969
https://doi.org/10.1136/jmg.2009.066969
Autor:
Thaddeus Judkins, Tom Scholl, Jason S. Ho, Kathleen R. Blazer, Katrina Lowstuter, Brant C. Hendrickson, Gail E. Tomlinson, Jeffrey N. Weitzel, Charité Ricker, Josef Herzog, Veronica I. Lagos
Publikováno v:
Cancer Epidemiology, Biomarkers & Prevention. 16:1615-1620
Background: Large rearrangements account for 8% to 15% of deleterious BRCA mutations, although none have been characterized previously in individuals of Mexican ancestry. Methods: DNA from 106 Hispanic patients without an identifiable BRCA mutation b
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::14071ab8e96dae2c526ecffdf14bd3d8
https://doi.org/10.1158/1055-9965.epi-07-0198
https://doi.org/10.1158/1055-9965.epi-07-0198
Autor:
Kristilyn Eliason, Robert C. Shaler, Christopher Sears, Tom Scholl, Benoît Leclair, Thad Judkins, George Carmody, Brant C. Hendrickson, Michael J. Norton
Publikováno v:
Journal of Forensic Sciences. 52:806-819
Victim identification initiatives undertaken in the wake of Mass Fatality Incidents (MFIs) where high-body fragmentation has been sustained are often dependent on DNA typing technologies to complete their mandate. The success of these endeavors is li
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ac1a29576bfbce92b826fea59bad08b7
https://doi.org/10.1111/j.1556-4029.2007.00456.x
https://doi.org/10.1111/j.1556-4029.2007.00456.x
Autor:
Elena M. Stoffel, Lynn Anne Burbidge, David H. Stockwell, Brant C. Hendrickson, John Tazelaar, Ewout W. Steyerberg, Amie M. Deffenbaugh, Thomas Scholl, J. Balmaña, Sapna Syngal, Julia Reid, Brian E. Ward
Publikováno v:
JAMA-Journal of the American Medical Association, 296(12), 1469-1478. American Medical Association
textabstractContext: Lynch syndrome is caused primarily by mutations in the mismatch repair genes MLH1 and MSH2. Objectives: To analyze MLH1/MSH2 mutation prevalence in a large cohort of patients undergoing genetic testing and to develop a clinical m
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5bca8ef622be3b69bddb6aac33250025
https://doi.org/10.1001/jama.296.12.1469
https://doi.org/10.1001/jama.296.12.1469
Autor:
Brian E. Ward, Kristilyn Eliason, Brant C. Hendrickson, Michael J. Norton, Dmitri Pruss, Thomas Scholl, Amie M. Deffenbaugh, Thaddeus Judkins, Benoît Leclair
Publikováno v:
Cancer Research. 65:10096-10103
This work describes an approach to characterize the clinical significance of genetic variants detected during the genetic testing of BRCA1 in patients from hereditary breast/ovarian cancer families. Results from transgenic mice and extensive clinical
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::922529e9da6a234f4c2021a2f952d6ce
https://doi.org/10.1158/0008-5472.can-05-1241
https://doi.org/10.1158/0008-5472.can-05-1241