Zobrazeno 1 - 10
of 30
pro vyhledávání: '"Michele G. Mehaffey"'
Autor:
James H. Doroshow, Richard M. Simon, Barbara A. Conley, Robert J. Kinders, P. Mickey Williams, Seth M. Steinberg, Paul M. McGregor, William D. Walsh, Michele G. Mehaffey, Chih-Jian Lih, Deborah E. Allen, Jiuping Ji, Alice P. Chen, Ahrim Youn, Peter M. Szabo, Robert J. Morgan, Miguel A. Villalona-Calero, Michael J. Naughton, David R. Gandara, Daniel M. Sullivan, Gini F. Fleming, Amit M. Oza, Shivaani Kummar
Supplemental Figure S1. Kaplan-Meier analysis of the progression free survival (PFS) of patients on each treatment arm stratified by BRCA status showed no significant differences.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ac78b660c4e98ad73ca9863a9f1c1ebb
https://doi.org/10.1158/1078-0432.22461263.v1
https://doi.org/10.1158/1078-0432.22461263.v1
Autor:
James H. Doroshow, Richard M. Simon, Barbara A. Conley, Robert J. Kinders, P. Mickey Williams, Seth M. Steinberg, Paul M. McGregor, William D. Walsh, Michele G. Mehaffey, Chih-Jian Lih, Deborah E. Allen, Jiuping Ji, Alice P. Chen, Ahrim Youn, Peter M. Szabo, Robert J. Morgan, Miguel A. Villalona-Calero, Michael J. Naughton, David R. Gandara, Daniel M. Sullivan, Gini F. Fleming, Amit M. Oza, Shivaani Kummar
Supplementary Expression Data. Individual expression values for all 211 genes interrogated in the tumor tissue of 55 patients.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4719fdaa52cff5b2368e357113fb40cf
https://doi.org/10.1158/1078-0432.22461254
https://doi.org/10.1158/1078-0432.22461254
Autor:
James H. Doroshow, Richard M. Simon, Barbara A. Conley, Robert J. Kinders, P. Mickey Williams, Seth M. Steinberg, Paul M. McGregor, William D. Walsh, Michele G. Mehaffey, Chih-Jian Lih, Deborah E. Allen, Jiuping Ji, Alice P. Chen, Ahrim Youn, Peter M. Szabo, Robert J. Morgan, Miguel A. Villalona-Calero, Michael J. Naughton, David R. Gandara, Daniel M. Sullivan, Gini F. Fleming, Amit M. Oza, Shivaani Kummar
Purpose: Veliparib, a PARP inhibitor, demonstrated clinical activity in combination with oral cyclophosphamide in patients with BRCA-mutant solid tumors in a phase I trial. To define the relative contribution of PARP inhibition to the observed clinic
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0a59e143b68831612282f14d975a5acd
https://doi.org/10.1158/1078-0432.c.6524744.v1
https://doi.org/10.1158/1078-0432.c.6524744.v1
Autor:
James H. Doroshow, Richard M. Simon, Barbara A. Conley, Robert J. Kinders, P. Mickey Williams, Seth M. Steinberg, Paul M. McGregor, William D. Walsh, Michele G. Mehaffey, Chih-Jian Lih, Deborah E. Allen, Jiuping Ji, Alice P. Chen, Ahrim Youn, Peter M. Szabo, Robert J. Morgan, Miguel A. Villalona-Calero, Michael J. Naughton, David R. Gandara, Daniel M. Sullivan, Gini F. Fleming, Amit M. Oza, Shivaani Kummar
Supplementary Methods, Tables S1 and S2, Figure Legend
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::328021638afbe02d32a6d9991afde791
https://doi.org/10.1158/1078-0432.22461251
https://doi.org/10.1158/1078-0432.22461251
Autor:
Danielle Mercatante Carrick, Michele G Mehaffey, Michael C Sachs, Sean Altekruse, Corinne Camalier, Rodrigo Chuaqui, Wendy Cozen, Biswajit Das, Brenda Y Hernandez, Chih-Jian Lih, Charles F Lynch, Hala Makhlouf, Paul McGregor, Lisa M McShane, JoyAnn Phillips Rohan, William D Walsh, Paul M Williams, Elizabeth M Gillanders, Leah E Mechanic, Sheri D Schully
Publikováno v:
PLoS ONE, Vol 10, Iss 7, p e0127353 (2015)
Next Generation Sequencing (NGS) technologies are used to detect somatic mutations in tumors and study germ line variation. Most NGS studies use DNA isolated from whole blood or fresh frozen tissue. However, formalin-fixed paraffin-embedded (FFPE) ti
Externí odkaz:
https://doaj.org/article/66eecb3a1c8949b0ba95630dac227961
Autor:
Margaret P. Adam, Karen W. Gripp, Kelly Kernan, Dan Doherty, George Anadiotis, Rebecca Sahraoui, Jennifer C. Dempsey, Michele G. Mehaffey, Daniel G. Miller, Carrie Fagerstrom, Yassmine Akkari, Katia Sol-Church, Heather C Mefford, Candace T. Myers, Wagner A.R. Baratela, Deborah L. Stabley, Martin Kircher, Michael B. Bober, Deborah A. Nickerson, Michael J. Bamshad, Katherine M. Robbins, Amy Lacroix, Angela L. Duker
Publikováno v:
The American Journal of Human Genetics. 104:35-44
Baratela-Scott syndrome (BSS) is a rare, autosomal-recessive disorder characterized by short stature, facial dysmorphisms, developmental delay, and skeletal dysplasia caused by pathogenic variants in XYLT1. We report clinical and molecular investigat
Autor:
Bert B.A. de Vries, Gemma L. Carvill, Sandra Jansen, Ingrid E. Scheffer, Matthew Zemel, Heather C Mefford, Han G. Brunner, Michele G. Mehaffey, Amy Lacroix, Lisenka E.L.M. Vissers, Petra de Vries
Publikováno v:
Developmental Medicine & Child Neurology, 63, 12, pp. 1441-1447
Developmental Medicine & Child Neurology
Developmental Medicine & Child Neurology, 63, 1441-1447
Developmental Medicine & Child Neurology
Developmental Medicine & Child Neurology, 63, 1441-1447
Contains fulltext : 243998.pdf (Publisher’s version ) (Open Access) AIM: To determine whether genes that cause developmental and epileptic encephalopathies (DEEs) are more commonly implicated in intellectual disability with epilepsy as a comorbid f
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fcadce2df7e2f84599479b7a33069788
https://hdl.handle.net/https://repository.ubn.ru.nl/handle/2066/243998
https://hdl.handle.net/https://repository.ubn.ru.nl/handle/2066/243998
Autor:
Géraldine Viot, Sara Halbach, Sandra Yang, William T. Gibson, Megan T. Cho, Sabine Luettgen, Pierre-Marie Martin, Karen W. Gripp, Christopher T. Gordon, Michael J. Bamshad, Jonas Denecke, Benjamin Apple, Thierry Bienvenu, William B. Dobyns, Elizabeth Francisco, Jill R. Murrell, Deborah A. Nickerson, Nadja Ehmke, Angela E. Lin, Kelly Radtke, Lisenka E.L.M. Vissers, Shelagh Joss, Farah R. Zahir, Louise Amlie-Wolf, Francisca Millan, Joan M. Stoler, Michael Parker, Youngha Lee, Carey McDougall, Denise Horn, Ruth McGowan, Elaine H. Zackai, Nicolas Lebrun, Ingrid M. Wentzensen, Zöe Powis, Oliver Puk, Nancy Vegas, Dan Doherty, Noa Lev-El, Amanda Barone Pritchard, Joseph T. Shieh, Francesca Filippini, Mariëtte J.V. Hoffer, Russell R. Reid, Valérie Cormier-Daire, Murim Choi, Michele G. Mehaffey, Stanislas Lyonnet, Jan M. Friedman, Sarina G. Kant, Yuri A. Zarate, David Viskochil, Gordon K.C. Leung, Angela M. Kaindl, Steven L.C. Pei, Christopher C.Y. Mak, Clémantine Dimartino, Koenraad Devriendt, Tiong Yang Tan, Mullin H.C. Yu, Chumei Li, Brian H.Y. Chung, Tim M. Strom, Lindsay B. Henderson, Elliot S. Stolerman, Trevor L Hoffman, Lina Basel-Salmon, Davor Lessel, Chelsea Roadhouse, Gisele E. Ishak, Caitlin Troyer, Jong-Hee Chae, Claudia Gonzaga-Jauregui, Ann Seman, Naama Orenstein, Marcie A. Steeves, Eric G. Bend, James D. Weisfeld-Adams, Jamel Chelly, William G. Wilson, Jeanne Amiel, Darrel Waggoner
Publikováno v:
Brain, 143, 55-68. OXFORD UNIV PRESS
Brain, 143, 1, pp. 55-68
Brain, 143, 55-68
Brain
Brain, 143, 1, pp. 55-68
Brain, 143, 55-68
Brain
Contains fulltext : 218289.pdf (Publisher’s version ) (Closed access) MN1 encodes a transcriptional co-regulator without homology to other proteins, previously implicated in acute myeloid leukaemia and development of the palate. Large deletions enc
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::30ec397c293d381da181f748c538b1db
https://academic.oup.com/brain/article/143/1/55/5675541
https://academic.oup.com/brain/article/143/1/55/5675541
Autor:
Annapurna Poduri, Amy L Schneider, Yuet Ping Yuen, Wai Km Chak, Heather C Mefford, Deepak Gill, Anne M Rochtus, Gabriel M. Ronen, Ingrid E. Scheffer, Michele G. Mehaffey, Candace T. Myers, Katja E. Boysen
Publikováno v:
Developmental medicine and child neurologyReferences. 62(9)
Epilepsy of infancy with migrating focal seizures (EIMFS), one of the most severe developmental and epileptic encephalopathy syndromes, is characterized by seizures that migrate from one hemisphere to the other. EIMFS is genetically heterogeneous wit
Autor:
Michele G. Mehaffey, Mei-Feng Wu, Edith P. Almanza Fuerte, Laura A. Jansen, Ingrid E. Scheffer, Wen-Hung Chung, Michael S. Hildebrand, Meng-Han Tsai, Paul J. Lockhart, Richard J. Leventer, Wen-Lang Fan, Heather C Mefford, Ying-Chao Chang, Chung-Kin Chan, Nian-Hsin Chao, Alison M. Muir, William B. Dobyns, Shih-Chi Su, Kheng Seang Lim, Guillaume Sébire, Nicolas Deconinck, Won Jing Wang, Ching Ching Ng, Kate Riney, Kun-Chuan Yang, Samuel F. Berkovic, Jin Wu Tsai, John A. Damiano, Yi-Ning Kang, Brenda E. Porter, Ghayda M. Mirzaa
Publikováno v:
Neuron
Lissencephaly (LIS), denoting a "smooth brain," is characterized by the absence of normal cerebral convolutions with abnormalities of cortical thickness. Pathogenic variants in over 20 genes are associated with LIS. The majority of posterior predomin