Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Barbara Neistadt"'
Autor:
R. Coleman Lindsley, Inga Hofmann, Sioban Keel, Colin C. Pritchard, Scott A. Coats, Tom Walsh, Rafael Márquez, Boglarka Gyurkocza, Mary Claire King, David A. Williams, Barbara Neistadt, Marshall S. Horwitz, Michael Y. Zhang, Melissa Forouhar, Christopher J. Mariani, Keith R. Loeb, Ryan Basom, Jeffrey J. Delrow, Ming K. Lee, Suleyman Gulsuner, Akiko Shimamura, Bradford S Schwartz, Janis L. Abkowitz, Marilyn Sanchez-Bonilla, Lucy A. Godley, Jane E. Churpek
Publikováno v:
Nature Genetics. 47:180-185
We report germline missense mutations in ETV6 segregating with the dominant transmission of thrombocytopenia and hematologic malignancy in three unrelated kindreds, defining a new hereditary syndrome featuring thrombocytopenia with susceptibility to
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0b813faef712e661ebfc35a76bb55e62
https://doi.org/10.1038/ng.3177
https://doi.org/10.1038/ng.3177
Autor:
Amanda C. Watts, Zakiya N Moton, Dezheng Huo, Yonglan Zheng, Barbara Neistadt, Cecilia Zvosec, Rafael Márquez, Olufunmilayo I. Olopade, Jane E. Churpek, James D. Fackenthal, Fang Liu, Matthew M. Churpek, Tom Walsh, Silvia Casadei, Anne M. Thornton, Jing Zhang, Ming K. Lee, Qun Niu, Mary Claire King
Publikováno v:
Breast Cancer Research and Treatment
African Americans have a disproportionate burden of aggressive young-onset breast cancer. Genomic testing for inherited predisposition to breast cancer is increasingly common in clinical practice, but comprehensive mutation profiles remain unknown fo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a9c79d38f830b4fc2d08f4504577f7a4
https://doi.org/10.1007/s10549-014-3195-0
https://doi.org/10.1007/s10549-014-3195-0
Autor:
Sioban Keel, Jeremy P. Segal, Tom Walsh, Mary Claire King, Amittha Wickrema, Akiko Shimamura, Katarzyna Rojek, Barbara Neistadt, Lucy A. Godley, Jane E. Churpek, Eric Nickels, Rafael Márquez, Koen van Besien, Richard A. Larson, Andrew S. Artz, Ming K. Lee
Analysis of the clinical characteristics of hematopoietic stem cell transplant (HSCT) donors has proven beneficial for identifying cases of heritable hematopoietic disorders. This study examines poor peripheral blood hematopoietic stem cell mobilizat
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::36b94d7a0327bd3b6d947d672eb83b9a
https://europepmc.org/articles/PMC5592729/
https://europepmc.org/articles/PMC5592729/
Publikováno v:
BMJ Case Rep
Haemophagocytic lymphohistiocytosis (HLH) is a rare and potentially fatal disorder. It is challenging to diagnose due to its rarity and variation in clinical presentation, laboratory abnormalities and underlying aetiologies. A reproductive-aged woman
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::584bfab876d3c44c6598f61291d2ef65
https://doi.org/10.1136/bcr-2018-224832
https://doi.org/10.1136/bcr-2018-224832
Autor:
Anase Asom, Jane E. Churpek, Barbara Neistadt, Aparna Vasanthakumar, Madison Weatherly, Rafael Márquez, George Rafidi, Elizabeth M. Davis, Stephen Arnovitz, Michelle M. Le Beau, Robert Duszynski, Lucy A. Godley, James W. Vardiman, Janet B. Lepore
Publikováno v:
Blood. 127(3)
Background: Fanconi anemia (FA) is caused by mutations in one of seventeen genes that make up the FA DNA double strand break (DSB) repair pathway. Recently, two individuals with biallelic germline BRCA1 mutations, each consisting of one null and one
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2b4da4063eac176b5409c7b6e59ec555
https://pubmed.ncbi.nlm.nih.gov/26644450
https://pubmed.ncbi.nlm.nih.gov/26644450
Autor:
Nameer Al Mardini, Lucy A. Godley, Barbara Neistadt, Sandeep Gurbuxani, Rachelle Lorenz, Ismael Shaukat, Rafael Márquez, Jane E. Churpek, Andrew Hantel, Jonathan L. Miller, Jerry Wong
Recently a mother-daughter pair with life-long thrombocytopenia presented for consultation regarding their presumed diagnoses of autoimmune-based idiopathic thrombocytopenic purpura (ITP) and their extended family history of bleeding and myeloid mali
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f3aee6c1191d827c4d6143c2e0fa683c
https://europepmc.org/articles/PMC4206674/
https://europepmc.org/articles/PMC4206674/