Zobrazeno 1 - 10
of 35
pro vyhledávání: '"Dominique C. Pichard"'
Autor:
Damian May, Kalé Kponee-Shovein, Jeffrey L. Neul, Alan K. Percy, Malena Mahendran, Nathaniel Downes, Grace Chen, Talissa Watson, Dominique C. Pichard, Melissa Kennedy, Patrick Lefebvre
Publikováno v:
Journal of Neurodevelopmental Disorders, Vol 16, Iss 1, Pp 1-12 (2024)
Abstract Background With the advent of the first targeted therapy for Rett Syndrome (RTT), a comprehensive assessment of the journey of RTT is needed to elucidate on present unmet needs in this population. This study characterized females with RTT in
Externí odkaz:
https://doaj.org/article/85d4f235fe314dd9b90f1126e2424377
Autor:
Ehren Dancy, Pamela Stratton, Dominique C. Pichard, Beatriz E. Marciano, Edward W. Cowen, Alison A. McBride, Koenraad Van Doorslaer, Melissa A. Merideth, Noemi Salmeri, Marybeth S. Hughes, Theo Heller, Mark Parta, Dennis D. Hickstein, Heidi H. Kong, Steven M. Holland, Christa S. Zerbe
Publikováno v:
Frontiers in Immunology, Vol 15 (2024)
ObjectivePatients with pathogenic variants in the GATA Binding Protein 2 (GATA2), a hematopoietic transcription factor, are at risk for human papillomavirus-related (HPV) anogenital cancer at younger than expected ages. A female cohort with GATA2 hap
Externí odkaz:
https://doaj.org/article/d6962edf636b4e08a6feb288037c400d
Autor:
Karyl S. Barron, Ivona Aksentijevich, Natalie T. Deuitch, Deborah L. Stone, Patrycja Hoffmann, Ryan Videgar-Laird, Ariane Soldatos, Jenna Bergerson, Camilo Toro, Cornelia Cudrici, Michele Nehrebecky, Tina Romeo, Anne Jones, Manfred Boehm, Jennifer A. Kanakry, Dimana Dimitrova, Katherine R. Calvo, Hawwa Alao, Devika Kapuria, Gil Ben-Yakov, Dominique C. Pichard, Londa Hathaway, Alessandra Brofferio, Elisa McRae, Natalia Sampaio Moura, Oskar Schnappauf, Sofia Rosenzweig, Theo Heller, Edward W. Cowen, Daniel L. Kastner, Amanda K. Ombrello
Publikováno v:
Frontiers in Immunology, Vol 12 (2022)
The deficiency of adenosine deaminase 2 (DADA2) is an autosomal recessively inherited disease that has undergone extensive phenotypic expansion since being first described in patients with fevers, recurrent strokes, livedo racemosa, and polyarteritis
Externí odkaz:
https://doaj.org/article/33cd9736fc644181983208987669339d
Autor:
Deeann Wallis, Anat Stemmer-Rachamimov, Jaishri O. Blakeley, Dominique C. Pichard, Bruce R. Korf, Sarah Adsit, Kavita Y. Sarin
Publikováno v:
Neurology
ObjectiveTo summarize existing biomarker data for cutaneous neurofibroma (cNF) and to inform the incorporation of biomarkers into clinical trial design for cNFs.MethodsThe cNF working group, a subgroup of the Response Evaluation in Neurofibromatosis
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0bce9365953c44ecebd1ad38c2ab3ca0
https://doi.org/10.1212/wnl.0000000000012426
https://doi.org/10.1212/wnl.0000000000012426
Autor:
Paula Molés-Poveda, Galen O. Joe, Edward W. Cowen, Leora E. Comis, Dominique C. Pichard, Sandra A. Mitchell, Beth Solomon, Rachel K. Rosenstein, Steven Z. Pavletic
Publikováno v:
Archives of Physical Medicine and Rehabilitation. 102:776-788
Graft-versus-host disease (GVHD) is a multisystemic disorder that affects 30%-80% of patients who undergo allogeneic hematopoietic stem cell transplantation 10%-15% of GVHD patients develop sclerotic features affecting the skin or deeper tissues, lea
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::013833e5875aa2236d568b4ca518875b
https://doi.org/10.1016/j.apmr.2020.10.141
https://doi.org/10.1016/j.apmr.2020.10.141
Autor:
Haley B. Naik, Dominique C. Pichard, Daniella M. Schwartz, Michelle O'Brien, Matthew Masciocchi, Julie Thompson, H. Nida Sen, Seth M. Steinberg, Sandra A. Mitchell, Adriana A. de Jesus, Timothy H. McCalmont, Amit Dey, Rachel K. Rosenstein, Zuoming Deng, Raphaela Goldbach-Mansky, Nehal N. Mehta, Edward W. Cowen
Publikováno v:
Journal of the American Academy of Dermatology. 87(6)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::aea073a25b6c3c9b204951a2014bcaec
https://pubmed.ncbi.nlm.nih.gov/36116584
https://pubmed.ncbi.nlm.nih.gov/36116584
Autor:
William D. Figg, Jaishri O. Blakeley, Andrea M. Gross, Oxana Borisovna Kapustina, John Glod, Andrea Baldwin, Janet Therrien, Brigitte C. Widemann, Amanda Carbonell, Seth M. Steinberg, Eva Dombi, Staci Martin, Kara Heisey, D. Wade Clapp, Dominique C. Pichard, Brian Weiss, L. Austin Doyle, Scott M. Paul, Marie Claire Roderick, Amish C. Shah, David Venzon, Malcolm A. Smith, Miriam Bornhorst, Patricia Whitcomb, Ae Rang Kim, Pamela L. Wolters, Chi Zhang, Cody J. Peer, Michael Fisher
Publikováno v:
New England Journal of Medicine. 382:1430-1442
No approved therapies exist for inoperable plexiform neurofibromas in patients with neurofibromatosis type 1.We conducted an open-label, phase 2 trial of selumetinib to determine the objective response rate among patients with plexiform neurofibromas
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e11a23f9e57e4747baef93d8bc7d5994
https://doi.org/10.1056/nejmoa1912735
https://doi.org/10.1056/nejmoa1912735
Autor:
Matthias A. Karajannis, A Taylor, Diana Baralle, Rosalie E. Ferner, A Gomes, Dave Viskochil, J Toelen, Rianne Oostenbrink, Christopher L. Moertel, Laura Papi, Conxi Lázaro, H Wu, Michael D. Wilson, Shay Ben-Shachar, Pierre Wolkenstein, Sirkku Peltonen, Plotkin, P Joly, Dominique C. Pichard, Michael Fisher, Steinke-Lange, T Frébourg, P Ciavarelli, H Hanson, Mia MacCollin, I Blanco, D Bessis, Meena Upadhyaya, C Cassiman, Dusica Babovic-Vuksanovic, Riccardi, Juha Peltonen, James H. Tonsgard, B Poppe, Katharina Wimmer, M Larralde, P Pancza, A Heiberg, Bruce R. Korf, Mautner, D. G. R. Evans, Robert Listernick, Tena Rosser, S Barbarot, Eva Trevisson, D Stevenson, M Anten, Eduard Serra, Miriam J. Smith, Christopher J Hammond, Susan M Huson, Yemima Berman, Marco Giovannini, C Mallucci, Anat Stemmer-Rachamimov, G Tadini, Robert A. Avery, N Rezende, Nicole J. Ullrich, CO Hanemann, SM Stivaros, Hildegard Kehrer-Sawatzki, A Parry, D Kroshinsky, Maurizio Clementi, JT Jordan, A Varan, Joanne Ngeow, A Mueller, G Zadeh, Michel Kalamarides, D Halliday, M Link, Elizabeth K. Schorry, Roger J. Packer, Vanessa L. Merker, David H. Gutmann, Arthur S. Aylsworth, Karin Soares Gonçalves Cunha, V-F Mautner, Amanda L. Bergner, David A. Stevenson, Eric Legius, L Le, M Ruggieri, Fred G. Barker, Ludwine Messiaen, Jan M. Friedman, J. Blakeley, Kaleb Yohay, Katherine A. Rauen, LO Rodrigues
Publikováno v:
Genetics in Medicine
Genetics in Medicine, 23(8), 1506-1513. Lippincott Williams & Wilkins
Genetics in Medicine, 23(8), 1506-1513. Lippincott Williams & Wilkins
PURPOSE: By incorporating major developments in genetics, ophthalmology, dermatology, and neuroimaging, to revise the diagnostic criteria for neurofibromatosis type 1 (NF1) and to establish diagnostic criteria for Legius syndrome (LGSS). METHODS: We
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::45cd2826f627d5badf189e97ab322203
https://orca.cardiff.ac.uk/id/eprint/143733/1/s41436-021-01170-5.pdf
https://orca.cardiff.ac.uk/id/eprint/143733/1/s41436-021-01170-5.pdf
Autor:
Michelle Millwood, Alexei A. Grom, Dominique C. Pichard, Michelle O'Brien, April Brundidge, Michelle Sutter, Hanna Kim, Yinghui Shi, Manuk Manukyan, Laura Vian, Robert A. Colbert, Massimo Gadina, Samantha Dill, Xiaobai Li, Jomy M. George, Brian M. Feldman, Shajia Lu, Lisa G. Rider, Maria D. Perez, Lawrence Yao, Edward W. Cowen, Minal S. Jain, Lilian W Adeojo, Wanxia Li Tsai
Publikováno v:
Ann Rheum Dis
Juvenile dermatomyositis (JDM) is a systemic vasculopathy with weakness and rash, frequently exhibiting a chronic/polycyclic course, and treated with broad immunosuppression. An interferon (IFN) signature correlates with disease activity.1 Interferon
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::05088ada833bd47cd6a378b3c35d60b2
https://doi.org/10.1136/annrheumdis-2020-218690
https://doi.org/10.1136/annrheumdis-2020-218690
Autor:
Dominique C. Pichard, Peng Li, Sarah Adsit, Whitney Narmore, Claas Rohl, Jaishri O. Blakeley, Tena Rosser, Brigitte C. Widemann, Ashley Cannon, Pamela L. Wolters, Andrés J. Lessing, Scott R. Plotkin, Gregg Erickson
Publikováno v:
Neurology
ObjectiveTo assess the perspectives of adults with neurofibromatosis 1 (NF1) regarding cutaneous neurofibroma (cNF) morbidity, treatment options, and acceptable risk–benefit ratio to facilitate the design of patient-centered clinical trials.Methods
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5b22dd65c4b800a1fdd908d4123058c5
https://pubmed.ncbi.nlm.nih.gov/34230202
https://pubmed.ncbi.nlm.nih.gov/34230202