Zobrazeno 1 - 8
of 8
pro vyhledávání: '"Melissa Forouhar"'
Publikováno v:
Pediatrics In Review. 43:222-225
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3bf1f20cd7939a2cc27e4701b54e4ab4
https://doi.org/10.1542/pir.2020-003954
https://doi.org/10.1542/pir.2020-003954
Publikováno v:
Clinical Pediatrics. 60:346-349
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::4bf372c2328c78a198cf4af4b539d440
https://doi.org/10.1177/00099228211021277
https://doi.org/10.1177/00099228211021277
Publikováno v:
Clinical pediatrics. 60(8)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::6d42bd0d38bdee6df4839af70a2b709e
https://pubmed.ncbi.nlm.nih.gov/34100657
https://pubmed.ncbi.nlm.nih.gov/34100657
Publikováno v:
Pediatric Infectious Disease Journal. 41:e104-e105
Multisystem inflammatory syndrome in children (MIS-C) is a serious complication that is observed most commonly in pediatric patients following severe acute respiratory syndrome coronavirus 2 infections. However, the mechanism and predictors of diseas
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1d2cb217554f1e60c68c63f9f72fbaa8
https://doi.org/10.1097/inf.0000000000003444
https://doi.org/10.1097/inf.0000000000003444
Autor:
Omar Niss, Robert B. Lorsbach, Mikaela Berger, Satheesh Chonat, Morgan McLemore, David Buchbinder, Timothy McCavit, Linda G. Shaffer, Jessica Simpson, Jeffrey H. Schwartz, Jessica Meznarich, Myesa Emberesh, Katie G. Seu, Wenying Zhang, Theodosia A. Kalfa, Ammar Husami, Theodosia Kalfa, Robert Lorsbach, Carolyn Lutzko, Adam Nelson, Charles Quinn, Clarissa Johnson, Jennifer A. Rothman, Sweta Gupta, Mara Nuñez Toscano, Melissa Forouhar, Vinod K. Gidvani-Diaz, James B. Ball, Gavin D. Roach, KayeLyn Wagner, Sam Milanovich, James Boyer, Jane Chawla, Christine Moore Smith, Adrienne Lee, Vlad C. Radulescu, Yasmina L. Abajas, A. Kim Ritchey, Hunter R. Underhill, Yaddanapudi Ravindranath, Niketa C. Shah
Publikováno v:
Blood Cells Mol Dis
Congenital dyserythropoietic anemias (CDAs) are characterized by ineffective erythropoiesis and distinctive erythroblast abnormalities; the diagnosis is often missed or delayed due to significant phenotypic heterogeneity. We established the CDA Regis
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6456eca53dbaf10f48ac098fb79414e7
https://pubmed.ncbi.nlm.nih.gov/33401150
https://pubmed.ncbi.nlm.nih.gov/33401150
Publikováno v:
Journal of pediatric hematology/oncology. 40(6)
Congenital dyserythropoetic anemias (CDA) represent a heterogeneous group of inherited red cell disorders resulting in ineffective erythropoiesis. Several CDA variants have been identified. KLF1 is a transcription factor required for cell division in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cf8a19590b17c25bdc6f07ffc3530a35
https://pubmed.ncbi.nlm.nih.gov/29200155
https://pubmed.ncbi.nlm.nih.gov/29200155
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
Publikováno v:
Hemoglobin. 40(4)
An asymptomatic toddler and his mother consistently demonstrated low transcutaneous pulse oximetry (SpO2) measurements, discordant with normal arterial blood gas analyses while breathing room air. Previous evaluations by medical teams were unable to
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fd317d451e8515b41de0f1a65288b736
https://pubmed.ncbi.nlm.nih.gov/27225845
https://pubmed.ncbi.nlm.nih.gov/27225845